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FLASH GENE
Symbol COL15A1 contributors: mct/npt - updated : 02-11-2006
HGNC name collagen, type XV, alpha 1
HGNC id 2192
Location 9q22.33      Physical location : 101.706.137 - 101.833.068
Synonym name
  • restin
  • collagen type XV proteoglycan
  • collagen XV, alpha-1 polypeptide
  • Synonym symbol(s) CA1E, FLJ38566
    DNA
    TYPE functioning gene
    STRUCTURE 126.93 kb     42 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see BAAT
    Physical map
    KIAA1529 9q22.33 KIAA1529 LOC389777 9 LOC389777 LOC286359 9q22.33 hypothetical protein LOC286359 PCTAIRE2BP 9q22.33 tudor repeat associator with PCTAIRE 2 TMOD1 9q22.32-q22.33 tropomodulin 1 LOC158427 9q22.33 PP4189 NCBP1 9q34.1 nuclear cap binding protein subunit 1, 80kDa XPA 9q22.32 xeroderma pigmentosum, complementation group A LOC392371 9 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FOXE1 9q22.3 forkhead box E1 (thyroid transcription factor 2) NAP1 19q13.33 pronapsin A HEMGN 9q22.33 hemogen ANP32B 9q22.32 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B NANS 9p24.1-p23 N-acetylneuraminic acid synthase (sialic acid synthase) TRIM14 9q22.32 tripartite motif-containing 14 CORO2A 9q22.3 coronin, actin binding protein, 2A TBC1D2 9q22.33 TBC1 domain family, member 2 GPR51 9q22.1 G protein-coupled receptor 51 SAMD6 9q31.1 sterile alpha motif domain containing 6 GALNT12 9q22.33 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) LOC392372 9 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) COL15A1 9q22.32-q22.33 collagen, type XV, alpha 1 TGFBR1 9q22 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ALG2 9q31.1 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) SEC61B 9q22.32-q31.3 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) LOC347265 9q31.1 similar to bA13B9.3 (novel protein similar to KRT8) LOC389778 9 LOC389778 NR4A3 9q22.32-q22.33 nuclear receptor subfamily 4, group A, member 3 STX17 9q31.1 syntaxin 17 INVS 9q31 inversin FLJ20287 9q31.1 hypothetical protein FLJ20287 MGC17337 9q31.1 similar to RIKEN cDNA 5730528L13 gene TMEFF1 9q31 transmembrane protein with EGF-like and two follistatin-like domains 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    42 - 5273 139 1388 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
     vessels    
    Digestiveliver    
    Endocrineadrenal gland    
     pancreas    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Membranebasement membrane   
    Muscularsmooth   
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunestellate
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text adrenals, kidney, pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fibril-associated collagens with interrupted helices (FACIT)
  • a N terminal thrombospondin domain
  • nine collagenous domains
  • a laminin G domain and O-tandem repeat structure in the C-terminal
  • conjugated GlycoP
    mono polymer homomer , trimer
    isoforms Precursor precursor of restin (a potent anti angiogenic protein) which is proteolytically processed by the C terminal fragment of COL XV
    HOMOLOGY
    interspecies ortholog to murine Col15a1
    intraspecies homolog to COL XVIII
    Homologene
    FAMILY
  • multiplexin collagen family
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • adhesion of basement membrane to connective tissue stroma
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular , development
    text anti-angiogenic by its C terminus (restin)
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in renal cell carcinoma (Morris 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Col15a1 deficient mice develop a skeletal myopathy and cardiovascular defects