InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMC1A

Summary

InnateDB Protein

IDBP-69777.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMC1A

Protein Name

structural maintenance of chromosomes 1A

Synonyms

CDLS2; DXS423E; SB1.8; SMC1; SMC1alpha; SMC1L1; SMCB;

Species

Homo sapiens

Ensembl Protein

ENSP00000323421

InnateDB Gene

IDBG-69775 (SMC1A)

Protein Structure

UniProt Annotation

Function

Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint. {ECO:0000269PubMed:11877377}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12199140}. Chromosome {ECO:0000269PubMed:12199140}. Chromosome, centromere, kinetochore {ECO:0000269PubMed:12199140}. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex. The phosphorylated form on Ser-957 and Ser-966 associates with chromatin during G1/S/G2 phases but not during M phase, suggesting that phosphorylation does not regulate cohesin function. Integral component of the functional centromere- kinetochore complex at the kinetochore region during mitosis.

Disease Associations

Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. {ECO:0000269PubMed:16604071, ECO:0000269PubMed:17221863, ECO:0000269PubMed:17273969, ECO:0000269PubMed:19701948, ECO:0000269PubMed:20358602, ECO:0000269PubMed:20635401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 133 experimentally validated interaction(s) in this database.
They are also associated with 16 interaction(s) predicted by orthology.

Experimentally validated
Total	133 [view]
Protein-Protein	129 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	16 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0036033	mediator complex binding
GO:0044822	poly(A) RNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000070	mitotic sister chromatid segregation
GO:0000278	mitotic cell cycle
GO:0000398	mRNA splicing, via spliceosome
GO:0006281	DNA repair
GO:0007052	mitotic spindle organization
GO:0007062	sister chromatid cohesion
GO:0007064	mitotic sister chromatid cohesion
GO:0007093	mitotic cell cycle checkpoint
GO:0007126	meiotic nuclear division
GO:0008380	RNA splicing
GO:0009314	response to radiation
GO:0010467	gene expression
GO:0019827	stem cell maintenance
GO:0032876	negative regulation of DNA endoreduplication
GO:0042770	signal transduction in response to DNA damage
GO:0051276	chromosome organization

Cellular Component

GO:0000775	chromosome, centromeric region
GO:0000776	kinetochore
GO:0000777	condensed chromosome kinetochore
GO:0000794	condensed nuclear chromosome
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005694	chromosome
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0008280	cohesin core heterodimer
GO:0030893	meiotic cohesin complex