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

Gene ID: 1281, updated on 6-Sep-2021

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
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 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]
Expression
Biased expression in gall bladder (RPKM 1491.0), placenta (RPKM 1173.3) and 12 other tissues See more
Orthologs
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Genomic context

See COL3A1 in Genome Data Viewer
Location:
2q32.2
Exon count:
51
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (188974373..189012746)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (189839099..189877472)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8257 Neighboring gene GULP PTB domain containing engulfment adaptor 1 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 chain Neighboring gene microRNA 3129 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

Homology

Clone Names

  • FLJ34534

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell-matrix adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
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 extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 cytokine IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to radiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in skeletal system development IEA
Inferred from Electronic Annotation
more info
 
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 transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
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)

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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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    188974373..189012746
    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.
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