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

    Gene ID: 1281, updated on 6-Jul-2024

    Summary

    Official Symbol
    COL3A1provided by HGNC
    Official Full Name
    collagen type III alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2201
    See related
    Ensembl:ENSG00000168542 MIM:120180; AllianceGenome:HGNC:2201
    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; EDSVASC; PMGEDSV
    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 type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]
    Expression
    Biased expression in gall bladder (RPKM 1491.0), placenta (RPKM 1173.3) and 12 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See COL3A1 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (188974373..189012746)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (189463283..189501589)
    105.20220307 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 LOC124906107 Neighboring gene uncharacterized LOC105373790 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:189538838-189539338 Neighboring gene disrupted in renal carcinoma 1 Neighboring gene uncharacterized LOC105373791 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409 Neighboring gene microRNA 1245a Neighboring gene microRNA 1245b Neighboring gene microRNA 3606 Neighboring gene collagen type V alpha 2 chain Neighboring gene microRNA 3129 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:190081672-190082544 Neighboring gene keratin 18 pseudogene 19

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2017-01-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2017-01-12)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34534

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in aorta smooth muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in basement membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in collagen fibril organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in elastic fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in layer formation in cerebral cortex IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb joint morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of Rho protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cytokine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in supramolecular fiber organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta1 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in wound healing NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    collagen alpha-1(III) chain
    Names
    Ehlers-Danlos syndrome type IV, autosomal dominant
    alpha-1 type III collagen
    alpha1 (III) collagen
    collagen, fetal
    collagen, type III, alpha 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000090.4NP_000081.2  collagen alpha-1(III) chain preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC066694
      Consensus CDS
      CCDS2297.1
      UniProtKB/Swiss-Prot
      D2JYH5, D3DPH4, P02461, P78429, Q15112, Q16403, Q53S91, Q541P8, Q6LDB3, Q6LDJ2, Q6LDJ3, Q7KZ56, Q8N6U4, Q9UC88, Q9UC89, Q9UC90, Q9UC91, R4N3C5, V9GZI1
      Related
      ENSP00000304408.4, ENST00000304636.9
      Conserved Domains (4) summary
      pfam01391
      Location:414473
      Collagen; Collagen triple helix repeat (20 copies)
      PRK07764
      Location:245452
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam00093
      Location:3288
      VWC; von Willebrand factor type C domain
      pfam01410
      Location:12331465
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791764.1 Reference GRCh38.p14 PATCHES

      Range
      79333..117706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      189463283..189501589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001376916.1: Suppressed sequence

      Description
      NM_001376916.1: This RefSeq is removed as it is redundant with another RefSeq.