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FLASH GENE
Symbol SMC3 contributors: mct/npt/pgu - updated : 03-05-2015
HGNC name structural maintenance of chromosomes 3
HGNC id 2468
Corresponding disease
CDLS2 Cornelia De Lange syndrome 2
Location 10q25.2      Physical location : 112.327.448 - 112.364.390
Synonym name
  • human chromosome associated polypeptide
  • structural maintenance of chromosome 3-like 1 (yeast)
  • chondroitin sulfate proteoglycan 6 (bamacan)
  • bamacan proteoglycan
  • basement membrane-associated chondroitin proteoglycan
  • cohesin
  • Synonym symbol(s) HCAP, BAM, CSPG6, SMC3L1, BMH, CDLS3
    DNA
    TYPE functioning gene
    STRUCTURE 36.94 kb     29 Exon(s)
    regulatory sequence Promoter
    text structure seven putative consensus sequences for beta-catenin / TCF4 binding
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 4131 141.4 1217 - 2008 18614053
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
     thymus   lowly
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon lowly
     liver    
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    Respiratorylung   lowly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Membrane    
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal head including a NTP binding motif
  • 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
  • a central hinge region
  • two alpha-helix coiled-coil regions
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to Xenopus XCAP-E
    homolog to murine Cspg6
    Homologene
    FAMILY
  • SMC (structural maintenance of chromosomes) family
  • SMC3 subfamily
  • CATEGORY secretory , structural protein , protooncogene
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,centromere
    text
  • highly in the nuclear fraction
  • basement membrane (secretory form)
  • basic FUNCTION
  • basement membrane protein, enabling proper
  • chromosome segregation
  • playing a role in the interaction of chromosomes with the ATPase motor protein (KIFAP3)
  • complexing with small G protein GDP dissociation
  • stimulator (SMAP/KAP3) and a ATPase motor associated protein KIF3A/B
  • required to prevent fragile site expression
  • post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein
  • play an important role in the maintenance of chromosomal integrity by preventing the premature separation of the sister chromatids at the onset of anaphase
  • important component of DNA repair (ATM- and ATR-dependent phosphorylation of SMC1A and SMC3 are critical for DNA damage response)
  • dynamics of cohesins REC8, STAG3, SMC1B and SMC3 suggest their participation in sister chromatid cohesion throughout the whole meiotic process in human oocytes
  • is radially displaced from the spindle axis and confines pericentric chromatin
  • pericentric SMC3 and SMC4 contribute to spindle length regulation and dynamics in metaphase
  • regulates sister chromatid cohesion and also plays a role in transcriptional control of gene expression
  • multiunit complex of SMC1A, SMC3 and RAD21, associates with chromatin after mitosis and holds sister chromatids together following DNA replication
  • 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,meiosis
    nucleotide, recombination
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text cohesion of dividing chromosomes, condensation recombination
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with SMC1B required for metaphase progression in mitotic cells
  • component of anaphase promoting complex with ANAP11 and another cohesin complex containing SM1L2, RAD21, SA1, SA2, yeast orthologs and regulating a novel prophase pathway
  • 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
  • protein
  • SMAP (KIFAP3)
  • KIF3A/KIF3B
  • interacting with TCF4(target the for beta-catenin/TCF4 transactivation pathway)
  • Hinderin is a binding partner of SMC3
  • interacts with MXI1, MXD3 and MXD4
  • RAD21 sumoylation by NSMCE2 promotes sister chromatid homologous recombination (SCR) by antagonizing WAPL at a step after cohesin loading at DSBs and in a way not solely dependent on SMC3 acetylation
  • SMC3 acetylation leads to recruitment of CDCA5, inhibition of WAPL, and stabilization of cohesin on DNA
  • cohesin proposed DNA exit gate is formed by interactions between RAD21 and the coiled-coil region of SMC3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDLS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    maybe directly linked to oncogenesis, colon carcinoma
    tumoral germinal mutation      
    in myelodysplastic syndromes, and acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS