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    COL1A1 collagen, type I, alpha 1 [ Homo sapiens (human) ]

    Gene ID: 1277, updated on 26-Jul-2015
    Official Symbol
    COL1A1provided by HGNC
    Official Full Name
    collagen, type I, alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:2197
    See related
    Ensembl:ENSG00000108821; HPRD:00362; MIM:120150; Vega:OTTHUMG00000148674
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OI1; OI2; OI3; OI4; EDSC
    Summary
    This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
    Orthologs
    See COL1A1 in Epigenomics, MapViewer
    Location:
    17q21.33
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (50184096..50201648, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48261457..48279003, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371818 Neighboring gene sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) Neighboring gene histone linker H1 domain, spermatid-specific 1, pseudogene Neighboring gene uncharacterized LOC105371821 Neighboring gene uncharacterized LOC105371820 Neighboring gene uncharacterized LOC101927230

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ehlers-Danlos syndrome, classic type Compare labs
    Ehlers-Danlos syndrome, procollagen proteinase deficient
    MedGen: C0268345 OMIM: 130060 GeneReviews: Not available
    Compare labs
    Infantile cortical hyperostosis
    MedGen: C0020497 OMIM: 114000 GeneReviews: Caffey Disease
    Compare labs
    Osteogenesis imperfecta Compare labs
    Osteogenesis imperfecta type I Compare labs
    Osteogenesis imperfecta type III Compare labs
    Osteogenesis imperfecta with normal sclerae, dominant form Compare labs
    Osteogenesis imperfecta, recessive perinatal lethal Compare labs
    Osteoporosis
    MedGen: C0029458 OMIM: 166710 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
    NHGRI GWA Catalog
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 X4-tropic gp120 upregulates alpha-SMA (ACTA2) and collagen I alpha 1 expression via the ERK1/2 pathway in a CXCR4-dependent manner in activated human hepatic stellate cells PubMed
    Tat tat HIV-1 Tat, through its basic domain (amino acids 46-60), inhibits the adhesion of collagen I to the neuroblastoma cell line GI-CA-N, suggesting a role for Tat in the neurologic dysfunction and destruction of the CNS observed in infants infected with HIV-1 PubMed
    tat HIV-1 Tat upregulates the steady-state RNA levels for fibronectin and types I and III collagen in glioblastoma cells and salivary gland cell lines PubMed
    Vpu vpu HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to upregulate expression of profibrogenic markers COL-1, PCT, SMA-1, VEGF, and MMP2, which is inhibited by MIF treatment PubMed
    matrix gag Treatment of human stellate cells with HIV-1 MA upregulates the expression of CXCR2, syndecan-2, collagen-I, alpha-SMA, vimentin, and endothelin-1 PubMed

    Go to the HIV-1, Human Interaction Database

    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
      Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
      Inflammatory Response Pathway, organism-specific biosystem
      Inflammatory Response Pathway
    • Osteoblast Signaling, organism-specific biosystem (from WikiPathways)
      Osteoblast Signaling, organism-specific biosystem
      Osteoblast Signaling
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Platelet activation, organism-specific biosystem (from KEGG)
      Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Scavenging by Class A Receptors, organism-specific biosystem (from REACTOME)
      Scavenging by Class A Receptors, organism-specific biosystemClass A scavenger receptors contain an intracellular domain, a transmembrane region, a coiled-coil domain, a collagenous domain, and the SR cysteine-rich domain (reviewed in Areschoug and Gordon 2009...
    • Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    • VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem (from Pathway Interaction Database)
      VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem
      VEGFR3 signaling in lymphatic endothelium
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystem
      Vesicle-mediated transport
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    platelet-derived growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone trabecula formation IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development involved in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to epidermal growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to fluoride IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    collagen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    intramembranous ossification IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    negative regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    platelet activation TAS
    Traceable Author Statement
    more info
     
    positive regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterotrimerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to corticosteroid IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    response to hyperoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skin morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tooth eruption IEA
    Inferred from Electronic Annotation
    more info
     
    tooth mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    collagen type I trimer IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    secretory granule IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    collagen alpha-1(I) chain
    Names
    alpha-1 type I collagen
    alpha1(I) procollagen
    collagen alpha 1 chain type I
    collagen alpha-1(I) chain preproprotein
    collagen of skin, tendon and bone, alpha-1 chain
    pro-alpha-1 collagen type 1
    type I proalpha 1
    type I procollagen alpha 1 chain

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007400.1 RefSeqGene

      Range
      5001..22544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1

    mRNA and Protein(s)

    1. NM_000088.3NP_000079.2  collagen alpha-1(I) chain preproprotein

      See identical proteins and their annotated locations for NP_000079.2

      Status: REVIEWED

      Source sequence(s)
      AC015909, Z74615
      Consensus CDS
      CCDS11561.1
      UniProtKB/Swiss-Prot
      P02452
      Related
      ENSP00000225964, OTTHUMP00000192905, ENST00000225964, OTTHUMT00000309036
      Conserved Domains (3) summary
      pfam01391
      Location:236295
      Collagen; Collagen triple helix repeat (20 copies)
      smart00038
      Location:12281464
      COLFI; Fibrillar collagens C-terminal domain
      pfam00093
      Location:4095
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      50184096..50201648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524341.1XP_011522643.1  

      See identical proteins and their annotated locations for XP_011522643.1

      Conserved Domains (3) summary
      pfam01391
      Location:236295
      Collagen; Collagen triple helix repeat (20 copies)
      smart00038
      Location:11621398
      COLFI; Fibrillar collagens C-terminal domain
      pfam00093
      Location:4095
      VWC; von Willebrand factor type C domain
    2. XM_005257058.3XP_005257115.2  

      See identical proteins and their annotated locations for XP_005257115.2

      Conserved Domains (3) summary
      pfam01391
      Location:236295
      Collagen; Collagen triple helix repeat (20 copies)
      smart00038
      Location:11381374
      COLFI; Fibrillar collagens C-terminal domain
      pfam00093
      Location:4095
      VWC; von Willebrand factor type C domain
    3. XM_005257059.3XP_005257116.2  

      Conserved Domains (3) summary
      pfam01391
      Location:236295
      Collagen; Collagen triple helix repeat (20 copies)
      smart00038
      Location:9221158
      COLFI; Fibrillar collagens C-terminal domain
      pfam00093
      Location:4095
      VWC; von Willebrand factor type C domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      48325754..48343284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)