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FLASH GENE
Symbol COL6A1 contributors: mct - updated : 17-11-2012
HGNC name collagen, type VI, alpha 1
HGNC id 2211
Corresponding disease
BTHM1 Bethlem myopathy 1
UCMD3 Ullrich congenital muscular dystrophy 3
Location 21q22.3      Physical location : 47.401.662 - 47.424.963
Synonym name
  • collagen alpha-1
  • human mRNA for collagen VI alpha-1 C-terminal globular domain9
  • Synonym symbol(s) OPLL
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    text head to head with COL6A2
    STRUCTURE 23.30 kb     35 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see PFKL PFKL ,COLOT1
    Physical map
    LOC391283 21 similar to interspersed repeat antigen, putative C21orf122 21q22.3 chromosome 21 open reading frame 122 ADARB1 21q22.3 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) C21orf89 21q22.1 chromosome 21 open reading frame 89 C21orf80 21q22.3 chromosome 21 open reading frame 80 C21orf86 21q22.1 chromosome 21 open reading frame 86 C21orf93 21q22.1 chromosome 21 open reading frame 93 LOC388830 21 similar to PRED59 COL18A1 21q22.3 collagen, type XVIII, alpha 1 LOC388831 21 LOC388831 SLC19A1 21q22.3 solute carrier family 19 (folate transporter), member 1 LOC388832 21 hypothetical gene supported by BC020585 LOC388833 21 LOC388833 PCBP3 21q22.3 poly(rC) binding protein 3 COL6A1 21q22.3 collagen, type VI, alpha 1 LOC200292 21q22.3 hypothetical LOC200292 COL6A2 21q22.3 collagen, type VI, alpha 2 FTCD 21q22.3 formiminotransferase cyclodeaminase C21orf56 21q22.3 chromosome 21 open reading frame 56 LSS 21q22.3 lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) MCM3APAS 21q22.3 MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein, antisense C21orf85 21q22.1 chromosome 21 open reading frame 85 MCM3AP 21q22.3 MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein C21orf57 21q22.3 chromosome 21 open reading frame 57 C21orf58 21q22.3 chromosome 21 open reading frame 58 PCNT2 21q22.3 pericentrin 2 (kendrin) LOC388834 21 hypothetical gene supported by AK127572 C21orf106 21q22.3 chromosome 21 open reading frame 106 S100B 21q22.3 S100 calcium binding protein, beta (neural) HRMT1L1 21q22.3 HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae) RPL23AP4 21q22.3 ribosomal protein L23a pseudogene 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 4246 - 1028 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vessels    
    Hearing/Equilibriumearinnercochlea highly
    Nervousnerve   highly
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three von Willebrand factor A-like modules, one N terminal
  • two C terminal, flanking the collagen triple helix repeat domain
  • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Col6a1
    Homologene
    FAMILY
  • type VI collagen family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • involved in the maintenance of extracellular matrix
  • acting as a cell-binding protein
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA
    a component
  • trimers composed of three different chains: alpha 1(VI), alpha 2(VI), and alpha 3(VI)
  • major components of microfibrils
  • collagen VI for ternary complex with TGFBI and SLRPs
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • collagens and other proteins of the extracellular matrix
  • processed by BMP1
  • expression responsive to VEGFA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BTHM1 , UCMD3
    Susceptibility
  • to ossification of the posterior longitudinal ligament of the spine
  • to Down-syndrome atrioventricular septal defects
  • Variant & Polymorphism SNP
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS