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FLASH GENE
Symbol COL1A1 contributors: mct/npt/shn - updated : 14-04-2010
HGNC name collagen, type I, alpha 1
HGNC id 2197
Corresponding disease
EDS1C Ehlers-Danlos syndrome, type Ic
EDS7A1 Ehlers-Danlos syndrome, type VIIA
ICHO infantile cortical hyperostosis
OI1A osteogenesis imperfecta, types I et IA
OI2A osteogenesis imperfecta, type II
OI3A osteogenesis imperfecta, type III
OI4A osteogenesis imperfecta, type IV
OIEDS osteogenesis imperfecta with Ehlers-Danlos syndrome
Location 17q21.33      Physical location : 48.261.458 - 48.279.000
Synonym name
  • collagen alpha-1
  • I chain precursor
  • collagen of skin, tendon and bone, alpha-1 chain
  • Synonym symbol(s) OI4
    DNA
    TYPE functioning gene
    STRUCTURE 17.54 kb     51 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • proximal region of COL1A1 harbors a functional 67/ 61-bp DNA-binding site for ZBTB7B in dermal fibroblasts
  • TGFbeta-responsive activating sequences regarding the promoter of COL1A1 are located between 174 and 84 bp from the transcription start site in a region containing a binding site for the transcription factor SP1 (specific protein-1) and an element with the canonical NF-1 (nuclear factor-1) binding motif
  • MAPPING cloned Y linked Y status confirmed
    Map cen - D17S943 - D17S1795 - COL1A1 - D17S1869 - D17S1815 - qter
    Physical map
    PHB 17q21.3 prohibitin LOC388400 17 similar to Eukaryotic translation initiation factor 4E (eIF4E) (eIF-4E) (mRNA cap-binding protein) (eIF-4F 25 kDa subunit) NGFR 17q21.31 nerve growth factor receptor (TNFR superfamily, member 16) NXPH3 17q21.31 neurexophilin 3 SPOP 17q22 speckle-type POZ protein SLC35B1 17q21.3-q22 solute carrier family 35, member B1 LOC81558 17q21.33 C/EBP-induced protein MYST2 17q21.32 MYST histone acetyltransferase 2 TAC4 17 tachykinin 4 (hemokinin) LOC124865 17q21.33 similar to ribosomal protein P0-like protein; 60S acidic ribosomal protein PO; ribosomal protein, large, P0-like DLX4 17q21-q22 distal-less homeobox 4 DLX3 17q21.3-q22 distal-less homeo box 3 ITGA3 17q22-q23 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) PDK2 17q21.3 pyruvate dehydrogenase kinase, isoenzyme 2 LOC201191 17q21.33 hypothetical protein LOC201191 PPP1R9B 17q21-q22 protein phosphatase 1, regulatory subunit 9B, spinophilin SGCA 17q21 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) HILS1 17q21.33 spermatid-specific linker histone H1-like protein COL1A1 17q21.31-q22.15 collagen, type I, alpha 1 FLJ33318 17q21.33 hypothetical protein FLJ33318 XYLT2 17q21.3-17q22 xylosyltransferase II MRPL27 17q21.3-q22 mitochondrial ribosomal protein L27 FLJ31364 PRO1855 17q21.33 hypothetical protein PRO1855 FLJ20920 17q21.33 hypothetical protein FLJ20920 MRPS21P9 17q21 mitochondrial ribosomal protein S21 pseudogene 9 CHAD 17q21.33 chondroadherin FLJ11164 17q21.33 hypothetical protein FLJ11164 DKFZp434N1415 17q21.33 Mycbp-associated protein EPN3 17q24.1 epsin 3 FLJ21347 17q21.33 hypothetical protein FLJ21347 LOC253962 17q21.33 hypothetical protein LOC253962 CACNA1G 17q22 calcium channel, voltage-dependent, alpha 1G subunit ABCC3 17q21.3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 MGC15396 17q21.33 hypothetical protein MGC15396 LUC7A 17q21 cisplatin resistance-associated overexpressed protein OA48-18 17q21.33 acid-inducible phosphoprotein FLJ20694 17q21.33 hypothetical protein FLJ20694 LOC390801 17 similar to S100 calcium-binding protein A10; S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)); annexin II ligand, calpactin I, light polypeptide WFIKKNRP 17q21.33 WFIKKN-related protein LOC390802 17 similar to ribosomal protein L5; 60S ribosomal protein L5 TOB1 17q21 transducer of ERBB2, 1 SPAG9 17q21.31 sperm associated antigen 9
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    51 - 5927 - 1464 - -
    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
  • 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)