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FLASH GENE
Symbol COL5A1 contributors: - updated : 19-03-2007
HGNC name collagen, type V, alpha 1
HGNC id 2209
Corresponding disease
EDS1A Ehlers-Danlos syndrome, gravis classical type
EDS2 Ehlers-Danlos syndrome, type II
Location 9q34.3      Physical location : 137.533.651 - 137.736.686
Synonym name collagen alpha-1
Synonym symbol(s) CA15
DNA
TYPE functioning gene
STRUCTURE 203.00 kb     66 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - GSN - D9S60 - D9S65 - ASS1 - DBH DBH - D9S66 - COL5A1 - D9S67 - qter
Authors Greenspan (95)
Physical map
DBH 9q34.2 dopamine beta-hydroxylase (dopamine beta-monooxygenase) SARDH 9q33-q34 sarcosine dehydrogenase VAV2 9q34.2 vav 2 oncogene LOC389803 9 similar to bA74P14.2 (novel protein) BRD3 9q34.2-q34.3 bromodomain containing 3 ARF4P 9q34 ADP-ribosylation factor 4 pseudogene LOC158226 9q34.3 hypothetical LOC158226 RXRA 9q34.3 retinoid X receptor, alpha LOC157943 9q34.3 hypothetical LOC157943 COL5A1 9q34.3 collagen, type V, alpha 1 LOC389804 9 LOC389804 LOC392397 9 similar to hypothetical protein FCN2 9q34 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) FCN1 9q34 ficolin (collagen/fibrinogen domain containing) 1 OLFM1 9q34.3 olfactomedin 1 LOC392398 9 similar to ligand-independent activating molecule for estrogen receptor C9orf62 9q34.3 chromosome 9 open reading frame 62 KIAA0649 9q34.3 chromosome 9 open reading frame 62 MGC29761 9q34.3 hypothetical protein MGC29761 MRPS2 9q34 mitochondrial ribosomal protein S2 LCN1 9q34 lipocalin 1 (protein migrating faster than albumin, tear prealbumin) OBP2A 9q34 lipocalin 1 (protein migrating faster than albumin, tear prealbumin) PAEP 9q34.2-q34.3 progestagen-associated endometrial protein (placental protein 14, pregnancy-associated endometrial alpha-2-globulin, alpha uterine protein) LOC138159 9q34.3 beta-lactoglobulin pseudogene GLTDC1 9q34.3 galactosyltransferase family 6 domain containing 1 LOC392399 9 similar to Putative MUP-like lipocalin precursor
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Cardiovascularheart   highly
Skin/Tegumentskin    
Visualeyeanterior segmentcornea  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Connectiveinterstitialdermis  
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • fibrillar collagen with triple helix repeat
  • thrombospondin N terminal-like domain
  • laminin G domain
  • conjugated GlycoP
    mono polymer homomer , heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Col5a1
    Homologene
    FAMILY collagen family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • incorporated into, and contributing to regulate the shape and diameter of type I collagen fibrils
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating as a low abundance collagen, with collagen type I fibrils
  • cell & other
    REGULATION
    Other regulated by BMP1 (procollagen C-peptidase)
    ASSOCIATED DISORDERS
    corresponding disease(s) EDS1A , EDS2
    Susceptibility
  • individuals with an A2 allele of this gene are less likely of developing symptoms of chronic Achilles tendinopathy
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS