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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
structural maintenance of chromosomes 1AMIM:300040Ensembl:ENSG00000072501HGNC:HGNC:11111PA35961Xp11.22

GO terms in SMC1A


Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0003682chromatin binding
MFHDAGO:0003723RNA binding
MFIPIGO:0005515protein binding
MFIEAGO:0005524ATP binding
MFIEAGO:0036033mediator complex binding
MFIPIGO:0046982protein heterodimerization activity
CCTASGO:0000775chromosome, centromeric region
CCIDAGO:0000776kinetochore
CCIEAGO:0000777condensed chromosome kinetochore
CCTASGO:0000794condensed nuclear chromosome
CCIDAGO:0005634nucleus
CCIDAGO:0005654nucleoplasm
CCTASGO:0005654nucleoplasm
CCTASGO:0005694chromosome
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCIDAGO:0008278cohesin complex
CCTASGO:0008278cohesin complex
CCIDAGO:0016363nuclear matrix
CCIDAGO:0030893meiotic cohesin complex
CCIDAGO:0097431mitotic spindle pole
BPTASGO:0000070mitotic sister chromatid segregation
BPTASGO:0006281DNA repair
BPIMPGO:0007062sister chromatid cohesion
BPTASGO:0007064mitotic sister chromatid cohesion
BPIEPGO:0009314response to radiation
BPIEAGO:0019827stem cell population maintenance
BPIMPGO:0032876negative regulation of DNA endoreduplication
BPIEAGO:0051301cell division
BPISSGO:0051321meiotic cell cycle
BPIDAGO:0072423response to DNA damage checkpoint signaling
BPIMPGO:1901673regulation of mitotic spindle assembly

Gene expression in normal tissue: SMC1A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SMC1A


DatabasePathway IDPathway Des.
reactomeR-HSA-1221632Meiotic synapsis
reactomeR-HSA-1474165Reproduction
reactomeR-HSA-1500620Meiosis
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-2467813Separation of Sister Chromatids
reactomeR-HSA-2468052Establishment of Sister Chromatid Cohesion
reactomeR-HSA-2470946Cohesin Loading onto Chromatin
reactomeR-HSA-2500257Resolution of Sister Chromatid Cohesion
reactomeR-HSA-2555396Mitotic Metaphase and Anaphase
reactomeR-HSA-2990846SUMOylation
reactomeR-HSA-3108214SUMOylation of DNA damage response and repair proteins
reactomeR-HSA-3108232SUMO E3 ligases SUMOylate target proteins
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-68877Mitotic Prometaphase
reactomeR-HSA-68882Mitotic Anaphase
reactomeR-HSA-68884Mitotic Telophase/Cytokinesis
reactomeR-HSA-68886M Phase
reactomeR-HSA-69242S Phase
reactomeR-HSA-69278Cell Cycle, Mitotic
reactomeR-HSA-8939211ESR-mediated signaling
reactomeR-HSA-9006931Signaling by Nuclear Receptors
reactomeR-HSA-9018519Estrogen-dependent gene expression
pidatm_pathwayATM pathway
kegghsa04110Cell cycle - Homo sapiens (human)
kegghsa04114Oocyte meiosis - Homo sapiens (human)
wikipathwaysWP1530miRNA Regulation of DNA Damage Response
wikipathwaysWP179Cell Cycle
wikipathwaysWP2002miR-targeted genes in epithelium - TarBase
wikipathwaysWP2004miR-targeted genes in lymphocytes - TarBase
wikipathwaysWP2446Retinoblastoma (RB) in Cancer
wikipathwaysWP2875Constitutive Androstane Receptor Pathway
wikipathwaysWP2882Nuclear Receptors Meta-Pathway
wikipathwaysWP3651Pathways Affected in Adenoid Cystic Carcinoma
wikipathwaysWP3878ATM Signaling Network in Development and Disease
wikipathwaysWP4010Liver steatosis AOP
wikipathwaysWP411mRNA Processing
wikipathwaysWP4240Regulation of sister chromatid separation at the metaphase-anaphase transition
wikipathwaysWP707DNA Damage Response

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SMC1A

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