Homo sapiens Gene: COL5A1
Summary
InnateDB Gene IDBG-91757.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL5A1
Gene Name collagen, type V, alpha 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000130635
Encoded Proteins
collagen, type V, alpha 1
collagen, type V, alpha 1
collagen, type V, alpha 1
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 associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:134641774-134844843
Strand Forward strand
Band q34.3
Transcripts
ENST00000371820 ENSP00000360885
ENST00000371817 ENSP00000360882
ENST00000464187
ENST00000469093
ENST00000463925
ENST00000460264
ENST00000465877
ENST00000618395 ENSP00000481360
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 10 [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:0008201 heparin binding
GO:0043394 proteoglycan binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001568 blood vessel development
GO:0003007 heart morphogenesis
GO:0007155 cell adhesion
GO:0007411 axon guidance
GO:0016477 cell migration
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0032964 collagen biosynthetic process
GO:0035313 wound healing, spreading of epidermal cells
GO:0035989 tendon development
GO:0043206 extracellular fibril organization
GO:0043588 skin development
GO:0045112 integrin biosynthetic process
GO:0048592 eye morphogenesis
GO:0051128 regulation of cellular component organization
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005588 collagen type V
GO:0005604 basement membrane
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
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
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
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Validated transcriptional targets of deltaNp63 isoforms
Cross-References
SwissProt P20908
TrEMBL A0A024R8E5 Q59EE7 Q96HC0 Q9UML4
UniProt Splice Variant
Entrez Gene 1289
UniGene Hs.210283 Hs.595415 Hs.712826
RefSeq NM_000093 NM_001278074
HUGO HGNC:2209
OMIM 120215
CCDS CCDS6982 CCDS75932
HPRD
IMGT
EMBL AB209864 AL591890 AL603650 AL645768 BC008760 CH471090 D90279 L38808 M76729
GenPept AAA59993 AAA79853 AAH08760 BAA14323 BAD93101 CAI15483 CAI17261 CAI39859 EAW88128 EAW88130 EAW88131
RNA Seq Atlas 1289