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Gene : COL5A1 Homo sapiens

Name  ? collagen type V alpha 1 chain Cytological Location  9q34.3
Brief Description  collagen type V alpha 1 chain
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. 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]
  • synonyms:
  • HGNC:2209,
  • OTTHUMG00000020891,
  • uc004cfe.5,
  • EDSC,
  • alpha 1 type V collagen,
  • COL5A1,
  • D90279,
  • collagen type V alpha 1,
  • EDSCL1,
  • NM_000093
  • identifiers:
  • 1289,
  • ENSG00000130635,
  • COL5A1

Genome feature

Region: gene ? Length: 203055  
Location: 9:134641789-134844843 Cyto location: 9q34.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

95 SN Ps

5 Cross References

20 Data Sets

43 Homologues

0 Located Features

97 Rna Seq Results