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FLASH GENE
Symbol SMC1A contributors: mct/npt/pgu - updated : 02-05-2017
HGNC name structural maintenance of chromosomes 1A
HGNC id 11111
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvesselaorta   
Digestiveliver   highly
 mouthtongue  highly
Endocrinepancreas    
Lymphoid/Immunelymph node   highly
Reproductivemale systemprostate   
Respiratorylung    
Urinarybladder   highly
cell lineage
cell lines
fluid/secretion lymph
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal NTP-binding site
  • two nucleotide-binding motifs, known as Walker A and Walker B motifs, situated at opposing ends of the polypeptide and the large coiled-coil motif is situated between the Walker A and Walker B motifs
  • two coiled-coil domains that are thought to form a lattice-like structure
  • a globular ATP-binding site at both ends and a long helical domain that is interrupted near its center by a nonhelical region
  • a C-terminal helix-loop-helix (HLH) domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae SMC1 protein
    homolog to murine Smc1l1
    Homologene
    FAMILY
  • ezrin/radixin/moesin family
  • SMC family
  • SMC1 subfamily
  • CATEGORY motor/contractile , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,kinetochore
    text
  • mitotic
  • not associated with chromatin after prophase I
  • associated with the two centrioles of a centrosome
  • basic FUNCTION
  • playing roles in sister chromatid cohesion and DNA repair
  • member of the cohesin complex, enabling proper chromosome segregation
  • may be playing a role in spindle pole assembly during mitosis
  • involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM
  • may be absolutely required for the correct completion of the last steps of DNA replication and required to prevent fragile site expression
  • play an important role in the maintenance of chromosomal integrity by preventing the premature separation of the sister chromatids at the onset of anaphase
  • involved in centrosome/basal body-related functions, such as organization of dynamic arrays of microtubules and ciliary formation
  • may play important roles in nucleation or anchoring of microtubules at interphase of the cell cycle and abscission at the final stage of cytokinesis
  • recruited to microtubule-bound RNA export factor 1 (RAE1) at the mitotic spindle pole
  • important component of DNA repair (ATM- and ATR-dependent phosphorylation of SMC1A and SMC3 are critical for DNA damage response)
  • multiunit complex of SMC1A, SMC3 and RAD21, associates with chromatin after mitosis and holds sister chromatids together following DNA replication
  • SMC1A upregulation is involved in the pathogenesis of glioma
  • in the development, participates in tissue-specific enhancer-promoter interactions and interactions that demarcate regions of correlated regulatory output
  • STAG2, RAD21, SMC1A, SMC3 mutations participate in leukemogenesis through the deregulated expression of genes that are involved in myeloid development and differentiation
  • cohesin ring is a protein complex composed of four core subunits: SMC1A, SMC3, RAD21 and STAG1/STAG2 and is involved in chromosome segregation, DNA repair, chromatin organization and transcription regulation
  • NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation
  • CELLULAR PROCESS cell cycle, division, mitosis
    nucleotide, chromatin organization
    PHYSIOLOGICAL PROCESS
    text cell cycle control, chromatin/chromosome structure
    PATHWAY
    metabolism
    signaling
    pathway that participates in spindle pole formation and that involves recruitment of SMC1A by microtubule-bound RAE1 at the spindle pole
    a component
  • heterodimerizing with SMC3 (CSPG6)
  • component of SMC1A, SMC3, RAD21 and STAG1, cohesin complex that is central to the mechanism of sister chromatid cohesion
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP/GTP binding
  • protein
  • BRCA1
  • ATM
  • interacting with FANCM (most likely contributes to CHEK1 and SMC1A phosphorylation by stimulating ATR activity towards its targets through promoting TOPBP1 retention on chromatin)
  • cell & other
    REGULATION
    Other its phosphorylation is required for an increased mobility after DNA damage in G2-phase cells, suggesting that ATM-dependent phosphorylation facilitates mobilization of the cohesin complex after DNA damage
    ASSOCIATED DISORDERS
    corresponding disease(s) CDLSX , EIEE85
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   amplification    
    Xp duplication including SMC1A, (
    tumoral somatic mutation      
    in myelodysplastic syndromes, and acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS