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FLASH GENE
Symbol COL3A1 contributors: mct - updated : 07-06-2011
HGNC name collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
HGNC id 2201
Corresponding disease
ACRG acrogeria, Gottron type
EDS3 Ehlers-Danlos syndrome, type III
EDS4A Ehlers-Danlos syndrome, type IV
FAN arterial aneurysms, familial
Location 2q32.2      Physical location : 189.839.098 - 189.877.472
Synonym name
  • collagen alpha-1(III) chain
  • collagen, fetal
  • Synonym symbol(s) FLJ34534, EDS4A
    DNA
    TYPE functioning gene
    STRUCTURE 38.37 kb     51 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - (D2S32 - D2S138 - D2S148 ) - (D2S24 - COL5A2 - COL3A1 - D2S118 - D2S161 ) - qter
    Authors Tiller (94)
    Physical map
    LOC151273 2q32.1 similar to E74-like factor 2 (ets domain transcription factor); new Ets-related factor FLJ34780 2q32.1 hypothetical protein FLJ34780 LEREPO4 2q32.2 likely ortholog of mouse immediate early response, erythropoietin 4 ITGAV 2q31-q32.1 integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) KIAA1946 2q32.2 KIAA1946 protein ZSWIM2 2q32.2 zinc finger, SWIM domain containing 2 LOC391467 2 similar to Inosine-5-monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPDH-I) (IMPD 1) CALCRL 2q31.3 calcitonin receptor-like TFPI 2q31-q32.1 tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) LOC344328 2q32.2 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein CED-6 2q32.3-q33 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein DIRC1 2q33 disrupted in renal carcinoma 1 COL3A1 2q32.2 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) COL5A2 2q24.3-q31 collagen, type V, alpha 2 LOC339781 2q32.3 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FLJ12519 2q32.3 hypothetical protein FLJ12519 SLC40A1 2q32 solute carrier family 40 (iron-regulated transporter), member 1 NS3TP1 2p24.3-q21.3 HCV NS3-transactivated protein 1 FLJ25415 2q32.3 hypothetical protein FLJ25415 OSGEPL1 2q32 O-sialoglycoprotein endopeptidase-like 1 LOC51240 2q32.3 hypothetical protein LOC51240 PMS1 2q31.1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) LOC285011 2q32.3 similar to HNRPC protein GDF8 2q32.2 growth differentiation factor 8 MGC13057 2q32.3 hypothetical protein MGC13057 HIBCH 2q32.3 3-hydroxyisobutyryl-Coenzyme A hydrolase INPP1 2q32 inositol polyphosphate-1-phosphatase FLJ20160 2q32.3 FLJ20160 protein LOC391468 2 similar to Hypothetical protein KIAA0286 (HA6800) NAB1 2q32.3-q33 NGFI-A binding protein 1 (EGR1 binding protein 1) GLS 2q32-q34 glutaminase STAT1 2q32.2-q32.3 signal transducer and activator of transcription 1, 91kDa STAT4 2q32.2-q32.3 signal transducer and activator of transcription 4 MYO1B 2q12-q34 myosin IB FLJ22833 2q32.3 hypothetical protein FLJ22833 SDPR 2q32-q33 serum deprivation response (phosphatidylserine binding protein) HSP40 2q32.3 HSP40 pseudogene TMEFF2 2q32.3-q33 transmembrane protein with EGF-like and two follistatin-like domains 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    51 - 5490 138 1466 - 2004 14970208
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Hearing/Equilibriumearinnercochlea  
    Nervousnerve    
    Respiratorylung    
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectiveinterstitialdermis  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     fibroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text cochlea, embryonic tissue
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fibrillar collagen with a large triple helical domain
  • two N and C globular domains
  • a von Willebrand factor (vWF) type C domain
  • conjugated GlycoP
    mono polymer homomer , trimer
    isoforms Precursor procollagen
    HOMOLOGY
    interspecies ortholog to murine Col3a1
    Homologene
    FAMILY
  • fibrillar collagen family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix structural constituent
    basic FUNCTION
  • fibrillar collagen of extensible tissues
  • is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs
  • regulates the proper lamination of the cerebral cortex by acting as the major ligand of GPR56 in the developing brain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular , development
    text histogenesis, organogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COL3A1 is the ligand of GPR56
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACRG , EDS3 , EDS4A , FAN
    related resource Collagen Type I & III
    Susceptibility to pelvic organ prolapse (POP)
    Variant & Polymorphism other
  • older age and incidence of COL3A1 rs1800255 genotype AA were significantly associated with risk of POP (
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS