COL5A1 (collagen, type V, alpha 1)

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Keyword

Gene: COL5A1 (collagen, type V, alpha 1) Homo sapiens

Symbol:

COL5A1

Name:

collagen, type V, alpha 1

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

alpha 1 type V collagen; collagen alpha-1(V) chain; OTTHUMP00000022513

Orthologs:

Mus musculus : Col5a1 (collagen, type V, alpha 1) MGI
Rattus norvegicus : Col5a1 (collagen, type V, alpha 1)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	9	137,568,598 - 137,771,403	+	NCBI
Human Genome Assembly HuRef	9	106,996,263 - 107,200,594	+	NCBI
Human Genome Assembly GRCh37	9	137,533,652 - 137,736,689	+	NCBI
Human Genome Assembly Build 36	9	136,673,473 - 136,876,510	+	NCBI
Human Cytogenetic Map	9	q34.2-q34.3		NCBI
Human Genome Assembly	9	134,759,596 - 134,960,684		NCBI