structural maintenance of chromosomes 1A

Summary
Gene Symbol
  • SMC1A
Organism
Homo sapiens (human)
NCBI Gene
8243
PubChem
8243
Alliance of Genome Resources
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
Gene Ontology (GO)
GO Hierarchy
Displaying entries 6 - 8 of 8 in total
GO Term Evidence Code PMID
ATP hydrolysis activity
mediator complex binding
protein heterodimerization activity
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
structural maintenance of chromosomes protein
Functional Category
  • L: Replication, recombination and repair
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0070380 developmental and epileptic encephalopathy 85
DOID:0080506 Cornelia de Lange syndrome 2
DOID:6000 congestive heart failure

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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