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FLASH GENE
Symbol SMC1A contributors: mct/npt/pgu - updated : 02-05-2014
HGNC name structural maintenance of chromosomes 1A
HGNC id 11111
Corresponding disease
CDLSX Cornelia de Lange syndrome, X-linked
Location Xp11.22      Physical location : 53.401.071 - 53.449.618
Synonym name
  • SMC1 (structural maintenance of chromosomes 1, yeast)-like 1
  • segregation of mitotic chromosomes 1 (SMC1, yeast human homolog of)
  • Synonym symbol(s) KIAA0178, DXS423E, SB1.8, SMC1, SMC1(alpha), SMCB, SMC1L1, DKFZp686L19178, MGC138332
    DNA
    TYPE functioning gene
    SPECIAL FEATURE escaping inactivation
    STRUCTURE 48.58 kb     25 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located located in an area of the X-chromosome that escapes X inactivation
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 9784 143 1233 - 2009 18996922
    26 - 9930 - 1211 - 2009 18996922
    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
  • 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
    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