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FLASH GENE
Symbol COL5A1 contributors: mct - updated : 09-11-2018
HGNC name collagen, type V, alpha 1
HGNC id 2209
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 - D9S66 - COL5A1 - D9S67 - qter
Authors Greenspan (95)
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
  • to central corneal thickness
  • to chronic Achilles tendinopathy
    • Variant & Polymorphism other
  • variant in collagen-related genes (COL5A1 at locus 9q34) influencing central corneal thickness (CCT)
  • individuals with an A2 allele of this gene are less likely of developing symptoms of chronic Achilles tendinopathy
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS