Homo sapiens Gene: COL5A3
Summary
InnateDB Gene IDBG-26167.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL5A3
Gene Name collagen, type V, alpha 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000080573
Encoded Proteins
collagen, type V, alpha 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:9959561-10010471
Strand Reverse strand
Band p13.2
Transcripts
ENST00000264828 ENSP00000264828
ENST00000461214
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005518 collagen binding
GO:0008201 heparin binding
GO:0043394 proteoglycan binding
Biological Process
GO:0007160 cell-matrix adhesion
GO:0007411 axon guidance
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0043588 skin development
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005588 collagen type V
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
GO:0070062 extracellular vesicular exosome
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
Signal Transduction 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
PID BIOCARTA
PID NCI
Cross-References
SwissProt P25940
TrEMBL
UniProt Splice Variant
Entrez Gene 50509
UniGene Hs.235368
RefSeq NM_015719
HUGO HGNC:14864
OMIM 120216
CCDS CCDS12222
HPRD 00369
IMGT
EMBL AC008742 AF177941
GenPept AAF59902
RNA Seq Atlas 50509