COL5A1

GENE INFORMATION

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Gene name

COL5A1

Synonyms

Description

Collagen, type V, alpha 1 (HGNC Symbol)

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. 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]

Chromosome

9

Cytoband

q34.3

Chromosome location (bp)

134641774 - 134844843

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000130635 (version 78.38)

Entrez gene

1289

UniProt

P20908 (UniProt - Evidence at protein level)

neXtProt

NX_P20908

Antibodypedia

COL5A1 antibodies
 

PROTEIN VIEW

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COL5A1-001
 
COL5A1-003
 
COL5A1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL5A1-001 ENSP00000360882
ENST00000371817
P20908
Show all »
Show » Show » 1838 183.6 Yes 0
COL5A1-003 ENSP00000360885
ENST00000371820
Show » Show » 210 23.5 No 0
COL5A1-201 ENSP00000481360
ENST00000618395
Q9UML4
Show all »
Show » Show » 1838 183.7 Yes 0