Homo sapiens Gene: COL3A1
Summary
InnateDB Gene IDBG-77195.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL3A1
Gene Name collagen, type III, alpha 1
Synonyms EDS4A;
Species Homo sapiens
Ensembl Gene ENSG00000168542
Encoded Proteins
collagen, type III, alpha 1
collagen, type III, alpha 1
collagen, type III, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:188974320-189012746
Strand Forward strand
Band q32.2
Transcripts
ENST00000304636 ENSP00000304408
ENST00000317840 ENSP00000315243
ENST00000450867 ENSP00000415346
ENST00000470167
ENST00000467886
ENST00000487010
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 13 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005178 integrin binding
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0007160 cell-matrix adhesion
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007229 integrin-mediated signaling pathway
GO:0007411 axon guidance
GO:0007507 heart development
GO:0007568 aging
GO:0009314 response to radiation
GO:0009612 response to mechanical stimulus
GO:0018149 peptide cross-linking
GO:0021987 cerebral cortex development
GO:0022617 extracellular matrix disassembly
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0034097 response to cytokine
GO:0035025 positive regulation of Rho protein signal transduction
GO:0042060 wound healing
GO:0043206 extracellular fibril organization
GO:0043588 skin development
GO:0048565 digestive tract development
GO:0050777 negative regulation of immune response
GO:0071230 cellular response to amino acid stimulus
GO:2001223 negative regulation of neuron migration
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005586 collagen type III
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
NCAM signaling for neurite out-growth pathway
Degradation of the extracellular matrix pathway
Syndecan interactions pathway
NCAM1 interactions pathway
Axon guidance pathway
Binding and Uptake of Ligands by Scavenger Receptors pathway
Signal Transduction pathway
Scavenging by Class A Receptors pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Signaling by PDGF pathway
Collagen formation pathway
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
Amoebiasis pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Endothelins
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.443625 Hs.708235
RefSeq NM_000090
HUGO
OMIM
CCDS CCDS2297
HPRD 00365
IMGT
EMBL
GenPept
RNA Seq Atlas