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structural maintenance of chromosomes 1A

Summary

Gene Symbol

SMC1A

Organism

Homo sapiens (human)

External Links

NCBI Gene

8243

PubChem

8243

Alliance of Genome Resources

HGNC:11111

Annotation

Keyword

3D-structure
ATP-binding
Acetylation
Cell cycle
Centromere
Chromosome
Coiled coil
DNA repair
Direct protein sequencing
Disease variant
Epilepsy
Intellectual disability
Kinetochore
Meiosis
Mitosis
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Ubl conjugation

Proteins

Displaying **all 4** entries
UniProt	Protein Name
Q68EN4
A0A384MR33
Q14683	Sb1.8
G8JLG1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 10** of 12 in total

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GO Term	Evidence Code	PMID
mitotic sister chromatid cohesion	TAS	12199140
establishment of meiotic sister chromatid cohesion	NAS	32409525
establishment of mitotic sister chromatid cohesion	NAS	32409525
mitotic sister chromatid segregation	TAS	7757074
meiotic cell cycle	ISS

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

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

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization [inference]

spindle organization [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

spindle assembly [inference]

mitotic spindle assembly

microtubule cytoskeleton organization involved in mitosis [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

cell cycle [inference]

meiotic cell cycle

cell cycle process [inference]

spindle organization [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

spindle assembly [inference]

mitotic spindle assembly

chromosome segregation [inference]

nuclear chromosome segregation [inference]

sister chromatid segregation [inference]

mitotic sister chromatid segregation

sister chromatid cohesion

mitotic sister chromatid cohesion

establishment of sister chromatid cohesion [inference]

mitotic cell cycle process [inference]

microtubule cytoskeleton organization involved in mitosis [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

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

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cell division

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

cellular response to biotic stimulus [inference]

response to cell cycle checkpoint signaling [inference]

response to DNA integrity checkpoint signaling [inference]

response to DNA damage checkpoint signaling

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

microtubule cytoskeleton organization [inference]

spindle organization [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

spindle assembly [inference]

mitotic spindle assembly

microtubule cytoskeleton organization involved in mitosis [inference]

mitotic spindle organization [inference]

mitotic spindle assembly

chromosome organization [inference]

sister chromatid segregation [inference]

mitotic sister chromatid segregation

sister chromatid cohesion

mitotic sister chromatid cohesion

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

spindle assembly [inference]

mitotic spindle assembly

cellular component assembly [inference]

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

spindle assembly [inference]

mitotic spindle assembly

reproductive process [inference]

meiotic cell cycle

multicellular organismal process [inference]

stem cell population maintenance [inference]

somatic stem cell population maintenance

developmental process [inference]

maintenance of cell number [inference]

stem cell population maintenance [inference]

somatic stem cell population maintenance

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

response to biotic stimulus [inference]

cellular response to biotic stimulus [inference]

response to cell cycle checkpoint signaling [inference]

response to DNA integrity checkpoint signaling [inference]

response to DNA damage checkpoint signaling

response to abiotic stimulus [inference]

response to radiation

response to endogenous stimulus [inference]

cellular response to endogenous stimulus [inference]

response to cell cycle checkpoint signaling [inference]

response to DNA integrity checkpoint signaling [inference]

response to DNA damage checkpoint signaling

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

cellular response to biotic stimulus [inference]

response to cell cycle checkpoint signaling [inference]

response to DNA integrity checkpoint signaling [inference]

response to DNA damage checkpoint signaling

Displaying entries **11 - 12** of 12 in total

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GO Term	Evidence Code	PMID
nuclear matrix	IDA	11590136
chromosome, centromeric region	TAS

GO Hierarchy

cellular component

protein-containing complex [inference]

cohesin complex

cellular anatomical entity [inference]

spindle pole [inference]

mitotic spindle pole

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

kinetochore

chromosome

nuclear chromosome [inference]

condensed nuclear chromosome

condensed chromosome [inference]

condensed nuclear chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

kinetochore

chromosome

nuclear chromosome [inference]

condensed nuclear chromosome

condensed chromosome [inference]

condensed nuclear chromosome

chromosomal region [inference]

chromosome, centromeric region

supramolecular complex [inference]

kinetochore

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
DNA binding	IBA
protein heterodimerization activity	IPI	11590136
ATP binding	IEA
RNA binding	HDA	22681889
mediator complex binding	IEA

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

binding [inference]

protein binding

protein dimerization activity [inference]

protein heterodimerization 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

protein-containing complex binding [inference]

organic cyclic compound binding [inference]

nucleic acid binding [inference]

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

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0070380	developmental and epileptic encephalopathy 85	Alliance of Genome Resources
DOID:0080506	Cornelia de Lange syndrome 2	Alliance of Genome Resources
DOID:11725	Cornelia de Lange syndrome	Alliance of Genome Resources
DOID:6000	congestive heart failure	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus	Alliance of Genome Resources