SMC1A
Summary: Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
structural maintenance of chromosomes 1A | MIM:300040 | Ensembl:ENSG00000072501 | HGNC:HGNC:11111 | PA35961 | Xp11.22 |
GO terms in SMC1A
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IDA | GO:0003682 | chromatin binding |
MF | HDA | GO:0003723 | RNA binding |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0005524 | ATP binding |
MF | IEA | GO:0036033 | mediator complex binding |
MF | IPI | GO:0046982 | protein heterodimerization activity |
CC | TAS | GO:0000775 | chromosome, centromeric region |
CC | IDA | GO:0000776 | kinetochore |
CC | IEA | GO:0000777 | condensed chromosome kinetochore |
CC | TAS | GO:0000794 | condensed nuclear chromosome |
CC | IDA | GO:0005634 | nucleus |
CC | IDA | GO:0005654 | nucleoplasm |
CC | TAS | GO:0005654 | nucleoplasm |
CC | TAS | GO:0005694 | chromosome |
CC | IDA | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
CC | IDA | GO:0008278 | cohesin complex |
CC | TAS | GO:0008278 | cohesin complex |
CC | IDA | GO:0016363 | nuclear matrix |
CC | IDA | GO:0030893 | meiotic cohesin complex |
CC | IDA | GO:0097431 | mitotic spindle pole |
BP | TAS | GO:0000070 | mitotic sister chromatid segregation |
BP | TAS | GO:0006281 | DNA repair |
BP | IMP | GO:0007062 | sister chromatid cohesion |
BP | TAS | GO:0007064 | mitotic sister chromatid cohesion |
BP | IEP | GO:0009314 | response to radiation |
BP | IEA | GO:0019827 | stem cell population maintenance |
BP | IMP | GO:0032876 | negative regulation of DNA endoreduplication |
BP | IEA | GO:0051301 | cell division |
BP | ISS | GO:0051321 | meiotic cell cycle |
BP | IDA | GO:0072423 | response to DNA damage checkpoint signaling |
BP | IMP | GO:1901673 | regulation of mitotic spindle assembly |
Gene expression in normal tissue: SMC1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMC1A
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1221632 | Meiotic synapsis |
reactome | R-HSA-1474165 | Reproduction |
reactome | R-HSA-1500620 | Meiosis |
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-1640170 | Cell Cycle |
reactome | R-HSA-1640170 | Cell Cycle |
reactome | R-HSA-2467813 | Separation of Sister Chromatids |
reactome | R-HSA-2468052 | Establishment of Sister Chromatid Cohesion |
reactome | R-HSA-2470946 | Cohesin Loading onto Chromatin |
reactome | R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
reactome | R-HSA-2555396 | Mitotic Metaphase and Anaphase |
reactome | R-HSA-2990846 | SUMOylation |
reactome | R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
reactome | R-HSA-392499 | Metabolism of proteins |
reactome | R-HSA-597592 | Post-translational protein modification |
reactome | R-HSA-68877 | Mitotic Prometaphase |
reactome | R-HSA-68882 | Mitotic Anaphase |
reactome | R-HSA-68884 | Mitotic Telophase/Cytokinesis |
reactome | R-HSA-68886 | M Phase |
reactome | R-HSA-69242 | S Phase |
reactome | R-HSA-69278 | Cell Cycle, Mitotic |
reactome | R-HSA-8939211 | ESR-mediated signaling |
reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
reactome | R-HSA-9018519 | Estrogen-dependent gene expression |
pid | atm_pathway | ATM pathway |
kegg | hsa04110 | Cell cycle - Homo sapiens (human) |
kegg | hsa04114 | Oocyte meiosis - Homo sapiens (human) |
wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
wikipathways | WP179 | Cell Cycle |
wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
wikipathways | WP2875 | Constitutive Androstane Receptor Pathway |
wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
wikipathways | WP3651 | Pathways Affected in Adenoid Cystic Carcinoma |
wikipathways | WP3878 | ATM Signaling Network in Development and Disease |
wikipathways | WP4010 | Liver steatosis AOP |
wikipathways | WP411 | mRNA Processing |
wikipathways | WP4240 | Regulation of sister chromatid separation at the metaphase-anaphase transition |
wikipathways | WP707 | DNA Damage Response |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMC1A