Homo sapiens Protein: SMC1A | |||||||||||||||||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||
InterPro |
IPR000533
Tropomyosin IPR003395 RecF/RecN/SMC, N-terminal IPR010935 SMCs flexible hinge IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00261
PF12718 PF02463 PF06470 |
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PRINTS |
PR00194
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PIRSF | |||||||||||||||||||||||||||||||||
SMART |
SM00968
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TIGRFAMs | |||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||
SwissProt | Q14683 | ||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q14683 | ||||||||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||
Entrez Gene | 8243 | ||||||||||||||||||||||||||||||||
UniGene | Hs.623440 | ||||||||||||||||||||||||||||||||
RefSeq | NP_006297 | ||||||||||||||||||||||||||||||||
HUGO | HGNC:11111 | ||||||||||||||||||||||||||||||||
OMIM | 300040 | ||||||||||||||||||||||||||||||||
CCDS | CCDS14352 | ||||||||||||||||||||||||||||||||
HPRD | 02077 | ||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||
EMBL | AL161779 BC112127 D80000 S78271 Z97054 | ||||||||||||||||||||||||||||||||
GenPept | AAB34405 AAI12128 BAA11495 CAI42089 CAI42646 | ||||||||||||||||||||||||||||||||