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Gene: COL3A1 (collagen type III alpha 1 chain) Homo sapiens
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Symbol: COL3A1
Name: collagen type III alpha 1 chain
Description: Exhibits several functions, including integrin binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including animal organ development; cell surface receptor signaling pathway; and collagen fibril organization. Localizes to the collagen type III trimer and extracellular space. Implicated in Ehlers-Danlos syndrome; autosomal dominant type IV Ehlers-Danlos syndrome; end stage renal failure; and type III Ehlers-Danlos syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-1 type III collagen; alpha1 (III) collagen; collagen alpha-1(III) chain; collagen type III alpha 1; collagen, fetal; collagen, type III, alpha 1; EDS4A; EDSVASC; Ehlers-Danlos syndrome type IV, autosomal dominant; FLJ34534; PMGEDSV
Orthologs:
Mus musculus (house mouse) : Col3a1 (collagen, type III, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col3a1 (collagen type III alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col3a1 (collagen type III alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL3A1 (collagen type III alpha 1 chain)
Canis lupus familiaris (dog) : COL3A1 (collagen type III alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col3a1 (collagen type III alpha 1 chain)
Sus scrofa (pig) : COL3A1 (collagen type III alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382188,974,373 - 189,012,746 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372189,839,099 - 189,877,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362189,547,344 - 189,585,717 (+)NCBINCBI36hg18NCBI36
Build 342189,664,604 - 189,702,978NCBI
Celera2183,433,958 - 183,472,272 (+)NCBI
Cytogenetic Map2q32.2NCBI
HuRef2181,698,732 - 181,737,119 (+)NCBIHuRef
CHM1_12189,845,032 - 189,883,377 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated