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FLASH GENE
Symbol COL11A1 contributors: mct - updated : 13-03-2007
HGNC name collagen, type XI, alpha 1
HGNC id 2186
Corresponding disease
FCHG fibrochondrogenesis
MRSH Marshall syndrome
STL2 Stickler syndrome 2
Location 1p21.1      Physical location : 103.342.023 - 103.574.052
Synonym name
  • collagen alpha-1
  • XIchain precursor
  • collagen XI, alpha-1 polypeptide
  • Synonym symbol(s) COLL6,CO11A1
    DNA
    TYPE functioning gene
    STRUCTURE 232.03 kb     67 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure the transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    67 - 7291 181 1806 - -
    alternate exon 6, designated exon 6A
    67 - 7327 - 1818 - -
    alternate exon 6, designated exon 6B
    64 - 6960 - 1690 - -
    does not utilize either alternate exon 6A or 6B
    - - 7191 - 1767 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Hearing/Equilibriumearinner  highly
    Skin/Tegumentskin   highly
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Connectivecartilagehyaline  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal region with thrombospondin N-terminal forming a globular head
  • triple helix repeat
  • an extended tail at the variable C terminal
  • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY
  • collagen family
  • fibrillar subfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text ocular vitreous body, extracellular matrix
    basic FUNCTION
  • playing an essential role in skeletal morphogenesis
  • maintaining the interfibrillar spacing and fibril diameter of type II collagen
  • regulation of fibrillogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
  • alpha 1 chain XI, heterotrimerizing with alpha 2 XI and alpha 3 XI, a post translationally modified variant of COL2A1
  • s2 constituent of fibril forming
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STL2 , MRSH , FCHG
    Susceptibility to lumbar disc herniation
    Variant & Polymorphism SNP 4603CT had the most significant association with lumbar disc herniation
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS