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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
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)