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FLASH GENE
Symbol COL1A1 contributors: mct/npt/shn - updated : 14-04-2015
HGNC name collagen, type I, alpha 1
HGNC id 2197
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Connectivecartilage   
Connectivedenseligament  
Connectivedensetendon  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text bone, cochlea
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a rope-like structure
  • a long stretch of uninterupted GLY-XY triplets
  • a VWFC domain
  • conjugated GlycoP
    mono polymer heteromer , trimer
    isoforms Precursor preprocollagen
    HOMOLOGY
    interspecies ortholog to Col1a1, Mus musculus
    ortholog to Col1a1, Rattus norvegicus
    ortholog to COL1A1, Pan troglodytes
    Homologene
    FAMILY
  • fibrillar collagen family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • main source of mechanical strength, template for mineral deposition in bones, involved in determination of bone density
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , ossification
    text
  • forms the fibrils of tendon, ligaments and bones (in bones the fibrils are mineralized with calcium hydroxyapatite)
  • PATHWAY
    metabolism
    signaling
    a component
  • component of fibrillar collagen of type I heterotrimerizing with COL1A2 (two alpha, one alpha chains)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • secreted protein, acidic, cysteine-rich (osteonectin), SPARC (Termine et al, 1981)
  • von Willebrand factor, VWF (Pareti et al, 1986)
  • integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor), ITGA2 (Staatz et al, 1990)
  • biglycan, BGN (Schönherr et al, 1995)
  • matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase), MMP9 (Mäkelä et al, 1998)
  • Nidogen-2, NID2 (Kohfeldt et al, 1998)
  • platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog), PDGFB (Shimizu et al, 1999)
  • metalloproteinase-2, MMP-2 (Ellerbroek et al, 2001)
  • Matrilin-2, MATN2 (Piecha et al, 2002)
  • Thioredoxin, TRX (Matsumoto et al, 2002)
  • NFKB is a strong inhibitor of collagen synthesis and of COL1A1 transcription in healthy and scleroderma fibroblasts, and RELA subunit of NFKB being responsible for the inhibitory action
  • COL1A1 and ITM2A genes both regulate the expressions of calcium channel genes
  • cell & other
    REGULATION
    induced by CREB3L1 (Murakami 2009)
    SP7 inducing COL1A1 gene expression through binding to SP1 sites in the bone enhancer and proximal promoter regions
    Other regulation of its transcription in human dermal fibroblasts involves a multimolecular complex implying at least three trans-activators, SP1, SP3, and ZBTB7B, which could act in concert to up-regulate COL1A1 transcription activity or down-regulate promoter activity
    ASSOCIATED DISORDERS
    corresponding disease(s) EDS7A1 , OI1A , OI2A , OI3A , OI4A , EDS1C , ICHO , OIEDS
    related resource Collagen Type I & III
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    with PDGFB t(17;22) (q22;q13) in dermatofibrosarcoma protuberans and in giant cell fibroblastoma
    constitutional   deletion    
    of GPATCH8 and COL1A1 in mild osteogenesis imperfecta with hyperuricemia (
    Susceptibility
  • to reduced bone density, osteoporosis (senile, postmenopausal)
  • to otosclerosis
  • to myopia (MYP5)
  • to osteoporosis
  • Variant & Polymorphism SNP , other
  • polymorphic binding site sp1
  • SNP in the regulatory regions are associated with otosclerosis
  • three common polymorphisms in the 5prime flank of COLIA1 interact to regulate COL1A1 transcription by affecting binding affinity of several critical regulatory factors including NMP4, Osterix and Sp1(Jin 2009)
  • three SNPs increasing the risk of myopia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice expressing a partially deleted COL1A1 gene have bones significantly shorter in length, a decrease in wet weight, mineral content and collagen content (Pereira et al, 1993)
  • mouse Aga2, with a dominant frameshift mutation in the Col1a1 C-propeptide domain, have OI phenotypic changes and endoplasmatic reticulum (ER) stress-related apoptosis in bone tissue
  • mice expressing a mutated COL1A1 gene exhibit phenotypic variability and incomplete penetrance of Osteogenesis imperfecta (Pereira et al, 1994)
  • transgenic mice with a targeted mutation in COL1A1 gene display ocular hypertension (Aihara et al, 2003)