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FLASH GENE
Symbol COL12A1 contributors: mct/np - updated : 17-06-2012
HGNC name collagen, type XII, alpha 1
HGNC id 2188
Corresponding disease
DEL6Q1 chromosome 6q1 deletions
Location 6q13      Physical location : 75.794.042 - 75.915.623
Synonym name
  • collagen, type XII, alpha 1-like
  • collagen type XII proteoglycan
  • Synonym symbol(s) BA209D8.1, COL12A1L
    DNA
    TYPE functioning gene
    STRUCTURE 121.58 kb     66 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC391942 6 similar to syntenin-2alpha LOC391943 6 similar to Multifunctional protein ADE2 LOC340168 6q14.1 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 LOC154288 6q14.1 similar to RIKEN cDNA 2410004A20 RPL39P3 6q14.1 ribosomal protein L39 pseudogene 3 DDX43 6q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 C6orf150 6q13 chromosome 6 open reading frame 150 MTO1 6q14.1 mitochondrial translation optimization 1 homolog (S. cerevisiae) EEF1A1 6q14 eukaryotic translation elongation factor 1 alpha 1 LOC389411 6 LOC389411 SLC17A5 6q14-q15 solute carrier family 17 (anion/sugar transporter), member 5 CD109 6q14.1 CD109 antigen (Gov platelet alloantigens) COL12A1 6q12-q13 collagen, type XII, alpha 1 COX7A2 6q12 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) C6orf67 6q14.1 chromosome 6 open reading frame 67 FILIP1 6q14.1 filamin A interacting protein 1 SUSP1 6q13-q14.3 filamin A interacting protein 1 MYO6 6q13 myosin VI IMPG1 6q14.2-q15 interphotoreceptor matrix proteoglycan 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    51 - 8087 - 1899 - Thierry (2004)
  • two A-like domains and 8 FBN type III repeats
  • 66 - 11579 333 3063 - Thierry (2004)
  • two non triple helical domains (long variant)
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Hearing/Equilibriumear    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    Connectivedensetendon  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text aminion, chorion
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fibril associated collagen with interrupted triple helices (FACIT)
  • four von Willebrand A-like modules
  • 18 FBN type III repeats
  • one NC4 collagen homology domain
  • two triple helical domains
  • conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    Homologene
    FAMILY collagen family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • maintaining the integrity of ECM containing COLI fibers
  • may be involved in basement membrane regulation providing specific molecular bridges between fibrils and other matrix components (Thierry 2004)
  • with COL14A1, might well be able to serve different functions during human embryonic development although their structures are highly similar (Thierry 2004)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text skeletal development
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of fibril associated collagen with interrupted triple helices (FACIT)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COLI fibers
  • COMP binds to COL12A1 and COL14A1 via their C-terminal collagenous domains, and three proteins codistribute in a characteristic narrow zone in the superficial papillary dermis of healthy human skin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL6Q1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS