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Description for Protein SMC1A

structural maintenance of chromosomes 1A
38 total interacting proteins; 11 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
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 SMC1L2 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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06636
    KEGG - Pathway(s):
    hsa04110; hsa04114
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SB1.8; DXS423E; SMC1alpha; SMCB; Structural maintenance of chromosome 1-like 1 protein
    Approved Symbol:
    SMC1A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 15
    Human (de-) phosphorylation sites: 15; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cornelia de Lange syndrome 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02077 Entrez Gene ID: 8243 OMIM ID: 300040 Swissprot Accession: Q14683;