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    COL3A1 collagen, type III, alpha 1 [ Homo sapiens (human) ]

    Gene ID: 1281, updated on 5-Jul-2015
    Official Symbol
    COL3A1provided by HGNC
    Official Full Name
    collagen, type III, alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:2201
    See related
    Ensembl:ENSG00000168542; HPRD:00365; MIM:120180; Vega:OTTHUMG00000132648
    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
    EDS4A
    Summary
    This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
    Orthologs
    See COL3A1 in Epigenomics, MapViewer
    Location:
    2q31
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (188974373..189012746)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (189839099..189877472)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373789 Neighboring gene uncharacterized LOC105373790 Neighboring gene disrupted in renal carcinoma 1 Neighboring gene uncharacterized LOC105373791 Neighboring gene microRNA 1245a Neighboring gene microRNA 1245b Neighboring gene microRNA 3606 Neighboring gene collagen, type V, alpha 2 Neighboring gene microRNA 3129 Neighboring gene uncharacterized LOC105373792

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in COL3A1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat 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

    Go to the HIV-1, Human Interaction Database

    • Amoebiasis, organism-specific biosystem (from KEGG)
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    • Amoebiasis, conserved biosystem (from KEGG)
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    • 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)
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    • Collagen formation, organism-specific biosystem (from REACTOME)
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    • 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)
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    • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
      Endothelins, organism-specific biosystem
      Endothelins
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
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    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
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    • Focal adhesion, organism-specific biosystem (from KEGG)
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    • Focal adhesion, conserved biosystem (from KEGG)
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    • Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
      Inflammatory Response Pathway, organism-specific biosystem
      Inflammatory Response Pathway
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
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    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
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    • Platelet activation, organism-specific biosystem (from KEGG)
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    • 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)
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    • Scavenging by Class A Receptors, organism-specific biosystem (from REACTOME)
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    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ34534

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix structural constituent IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integrin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integrin binding NAS
    Non-traceable Author Statement
    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
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    aorta smooth muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen fibril organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of Rho protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    response to cytokine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    wound healing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen type III trimer IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen type III trimer NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    colocalizes_with extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    collagen alpha-1(III) chain
    Names
    Ehlers-Danlos syndrome type IV, autosomal dominant
    alpha1 (III) collagen
    collagen, fetal

    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_007404.1 RefSeqGene

      Range
      5001..43374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_3

    mRNA and Protein(s)

    1. NM_000090.3NP_000081.1  collagen alpha-1(III) chain preproprotein

      See identical proteins and their annotated locations for NP_000081.1

      Status: REVIEWED

      Source sequence(s)
      AC066694, BC028178, BP374999, X14420
      Consensus CDS
      CCDS2297.1
      UniProtKB/Swiss-Prot
      P02461
      Related
      ENSP00000304408, OTTHUMP00000163485, ENST00000304636, OTTHUMT00000255899
      Conserved Domains (3) summary
      pfam01391
      Location:414473
      Collagen; Collagen triple helix repeat (20 copies)
      smart00038
      Location:12311466
      COLFI; Fibrillar collagens C-terminal domain
      pfam00093
      Location:3288
      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_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      188974373..189012746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      189845032..189883377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)