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

Gene ID: 1281, updated on 26-Nov-2014
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]
See COL3A1 in Epigenomics, MapViewer
Location:
2q31
Exon count:
51
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 microRNA 561 Neighboring gene GULP, engulfment adaptor PTB domain containing 1 Neighboring gene disrupted in renal carcinoma 1 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 keratin 18 pseudogene 19

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)
    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 ...
  • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
    Endothelins, organism-specific biosystem
    Endothelins
  • 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...
  • 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)
    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
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
 
axon guidance TAS
Traceable Author Statement
more info
 
blood vessel development IEA
Inferred from Electronic Annotation
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
 
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
collagen alpha-1(III) chain
collagen, fetal
alpha1 (III) collagen
Ehlers-Danlos syndrome type IV, autosomal dominant

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 

    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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

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

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    181698732..181737119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)