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structural maintenance of chromosomes flexible hinge domain containing 1

Summary

Gene Symbol

SMCHD1

Aliases

FSHD2
KIAA0650

Organism

Homo sapiens (human)

External Links

NCBI Gene

23347

HGNC

29090

PubChem

23347

Alliance of Genome Resources

HGNC:29090

JoGo

SMCHD1

TogoVar

SMCHD1

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Chromatin regulator
Chromosome
DNA repair
DNA-binding
Direct protein sequencing
Disease variant
Hydrolase
Hypogonadotropic hypogonadism
Isopeptide bond
Kallmann syndrome
Microphthalmia
Phosphoprotein
Proteomics identification
Reference proteome
Ubl conjugation

Proteins

Displaying 1 entry
UniProt	Protein Name
A6NHR9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

1

2

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GO Term	Evidence Code	PMID
double-strand break repair	IEA
dosage compensation by inactivation of X chromosome	IDA	23542155
nose development	IMP	28067909 28067911
positive regulation of DNA repair	IMP	24790221
chromosome organization	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

double-strand break repair

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

double-strand break repair

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

chromosome organization

protein-containing complex organization [inference]

protein-DNA complex organization [inference]

chromatin organization [inference]

chromatin remodeling [inference]

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

heterochromatin organization [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

sensory organ development [inference]

nose development

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

double-strand break repair

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

double-strand break repair

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of cellular metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of DNA metabolic process [inference]

regulation of DNA recombination [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of DNA repair [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of cellular metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of DNA metabolic process [inference]

regulation of DNA recombination [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of DNA repair [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of DNA metabolic process [inference]

regulation of DNA recombination [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of DNA repair [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of DNA metabolic process [inference]

regulation of DNA recombination [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of DNA repair [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of cellular metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of response to stimulus [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of response to stimulus [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of response to stimulus [inference]

positive regulation of response to stimulus [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of response to stimulus [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of response to stress [inference]

regulation of cellular response to stress [inference]

regulation of DNA repair [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of DNA metabolic process [inference]

regulation of DNA recombination [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of DNA repair [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of cellular metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

epigenetic regulation of gene expression [inference]

sex-chromosome dosage compensation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation [inference]

dosage compensation by inactivation of X chromosome

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of DNA recombination [inference]

negative regulation of double-strand break repair via homologous recombination

regulation of cellular response to stress [inference]

regulation of DNA repair [inference]

negative regulation of DNA repair [inference]

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of DNA repair

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

regulation of double-strand break repair via homologous recombination [inference]

negative regulation of double-strand break repair via homologous recombination

negative regulation of double-strand break repair [inference]

negative regulation of double-strand break repair via homologous recombination

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

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GO Term	Evidence Code	PMID
chromosome, telomeric region	IDA	24270157
Barr body	IDA	23542155
Barr body	IBA
nucleoplasm	IDA
nuclear body	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome [inference]

nuclear chromosome [inference]

Barr body

sex chromosome [inference]

X chromosome [inference]

Barr body

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome [inference]

nuclear chromosome [inference]

Barr body

sex chromosome [inference]

X chromosome [inference]

Barr body

site of DNA damage [inference]

site of double-strand break

chromosomal region [inference]

chromosome, telomeric region

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GO Term	Evidence Code	PMID
DNA binding	IEA
DNA clamp loader activity
protein binding	IPI	23542155 26496610
ATP binding	IEA
ATP hydrolysis activity	ISS

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

ATP hydrolysis activity

catalytic activity, acting on a protein [inference]

ATP-dependent histone chaperone activity [inference]

catalytic activity, acting on a nucleic acid [inference]

catalytic activity, acting on DNA [inference]

ATP-dependent activity, acting on DNA [inference]

DNA clamp loader activity

DNA translocase activity [inference]

chromatin extrusion motor activity

ATP-dependent chromatin remodeler activity [inference]

ATP-dependent histone chaperone activity [inference]

cohesin loader activity

binding [inference]

protein binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

molecular carrier activity [inference]

protein carrier chaperone [inference]

histone chaperone activity [inference]

H3-H4 histone complex chaperone activity [inference]

ATP-dependent H3-H4 histone complex chaperone activity

ATP-dependent histone chaperone activity [inference]

ATP-dependent activity [inference]

ATP-dependent activity, acting on DNA [inference]

DNA clamp loader activity

DNA translocase activity [inference]

chromatin extrusion motor activity

ATP-dependent chromatin remodeler activity [inference]

ATP-dependent histone chaperone activity [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

structural maintenance of chromosomes flexible hinge domain-containing protein 1

Functional Category

G: Carbohydrate transport and metabolism
L: Replication, recombination and repair
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
ATP binding
double-strand break repair

Displaying **all 4** entries
InterPro
Histidine kinase/HSP90-like ATPase superfamily
SMCs flexible hinge superfamily
SMCs flexible hinge
Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Human Protein Atlas

ENSG00000101596

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111193	facioscapulohumeral muscular dystrophy 2	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000059	Hypoplastic labia majora
HP:0000135	Hypogonadism
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:603457	arhinia, choanal atresia, and microphthalmia
ORPHA:2250	hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OMIM:158901	facioscapulohumeral muscular dystrophy 2
ORPHA:269	facioscapulohumeral muscular dystrophy

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Facioscapulohumeral muscular dystrophy

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

ChIP-Atlas

Target Genes: Predicted target genes bound by given transcription factors. Target Genes
Potential target genes for SMCHD1
Distance from TSS: ± 10 kb

Displaying 1 entry
Gene Symbol	Description	Cellline (score)
RPEL1	ribulose-5-phosphate-3-epimerase like 1	SH-SY5Y(350) SH-SY5Y(540)

Colocalization: Predicted partner proteins colocalizing with given transcription factors. Colocalization
Colocalization analysis for SMCHD1

Displaying **all 4** entries
Gene Symbol	Description	Cellline (score)
INSR	insulin receptor	SH-SY5Y(0) SH-SY5Y(4) SH-SY5Y(9)
SMCHD1	structural maintenance of chromosomes flexible hinge domain containing 1	HCT_116(10) SH-SY5Y(0) SH-SY5Y(10) SH-SY5Y(9) hTERT_RPE-1(0) hTERT_RPE-1(10)
HDAC2	histone deacetylase 2	U-87_MG(0)
DCP1A	decapping mRNA 1A	SH-EP(0)

An integrative, comprehensive database to explore public Epigenetic dataset, including ChIP-Seq, DNase-Seq, ATAC-Seq, and Bisulfite-Seq data: ChIP-Atlas covers almost all public data archived in Sequence Read Archive of NCBI, EBI, and DDBJ with over 224,000 experiments.

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements