Collagen, type IV, alpha 5

(Redirected from COL4A5)

Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.

COL4A5
Identifiers
AliasesCOL4A5, ASLN, ATS, CA54, collagen type IV alpha 5, collagen type IV alpha 5 chain, ATS1
External IDsOMIM: 303630; MGI: 88456; HomoloGene: 133559; GeneCards: COL4A5; OMA:COL4A5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000495
NM_033380
NM_033381

NM_001163155
NM_007736

RefSeq (protein)

NP_000486
NP_203699

n/a

Location (UCSC)Chr X: 108.44 – 108.7 MbChr X: 140.26 – 140.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene.[5]

Disease Databases

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ARUP COL4A5 gene variant database

LOVD Alport gene variant databases (COL4A5, COL4A3, COL4A4)[permanent dead link]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188153Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031274Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: COL4A5 collagen, type IV, alpha 5 (Alport syndrome)".

Further reading

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