P20908.3
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UniProt Primary Accession #
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UniProt Secondary Accession #
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NCBI Official Full Name
Collagen alpha-1(V) chain
NCBI Official Synonym Full Names
collagen, type V, alpha 1
NCBI Protein Information
collagen alpha-1(V) chain; collagen alpha-1(V) chain
UniProt Protein Name
Collagen alpha-1(V) chain
UniProt Entry Name
CO5A1_HUMAN
NCBI Summary for COL5A1
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]
UniProt Comments for COL5A1
COL5A1: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Defects in COL5A1 are a cause of Ehlers-Danlos syndrome type 1 (EDS1); also known as Ehlers-Danlos syndrome gravis or severe classic type Ehlers-Danlos syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. Defects in COL5A1 are a cause of Ehlers-Danlos syndrome type 2 (EDS2); also known as Ehlers-Danlos syndrome mitis or mild classic type Ehlers Danlos syndrome. Belongs to the fibrillar collagen family.
Protein type: Secreted, signal peptide; Secreted; Motility/polarity/chemotaxis; Extracellular matrix; Cell adhesion
Chromosomal Location of Human Ortholog: 9q34.2-q34.3
Cellular Component: extracellular matrix; collagen type V; endoplasmic reticulum lumen; extracellular region; basement membrane
Molecular Function: integrin binding; heparin binding; proteoglycan binding; platelet-derived growth factor binding; extracellular matrix structural constituent; metal ion binding
Biological Process: skin development; heart morphogenesis; blood vessel development; axon guidance; cell migration; extracellular matrix organization and biogenesis; collagen fibril organization; collagen catabolic process; extracellular matrix disassembly; integrin biosynthetic process; regulation of cellular component organization and biogenesis; fibril organization and biogenesis; cell adhesion; collagen biosynthetic process; eye morphogenesis; wound healing, spreading of epidermal cells
Disease: Ehlers-danlos Syndrome, Type I
Research Articles on COL5A1
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Products associated with anti-COL5A1 antibody
Pathways associated with anti-COL5A1 antibody
Diseases associated with anti-COL5A1 antibody
Organs/Tissues associated with anti-COL5A1 antibody
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