Movatterモバイル変換


[0]ホーム

URL:


Jump to content
WikipediaThe Free Encyclopedia
Search

Collagen, type IV, alpha 5

From Wikipedia, the free encyclopedia
(Redirected fromCOL4A5)
Protein-coding gene in humans
"Ca54" redirects here. For the isotope of calcium (Ca-54 or54Ca), seeCalcium-54.
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
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for COL4A5
Genomic location for COL4A5
BandXq22.3Start108,439,838bp[1]
End108,697,545bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for COL4A5
Genomic location for COL4A5
BandX F2|X 62.16 cMStart140,258,381bp[2]
End140,472,230bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastric mucosa

  • ventricular zone

  • seminal vesicula

  • corpus callosum

  • body of uterus

  • urethra

  • tail of epididymis

  • right uterine tube

  • inferior ganglion of vagus nerve

  • left uterine tube
Top expressed in
  • epithelium of lens

  • ascending aorta

  • iris

  • left lung lobe

  • vas deferens

  • atrium

  • aortic valve

  • tunica media of zone of aorta

  • vestibular sensory epithelium

  • ciliary body
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1287

12830

Ensembl

ENSG00000188153

ENSMUSG00000031274

UniProt

P29400

n/a

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

Collagen alpha-5(IV) chain is aprotein that in humans is encoded by theCOL4A5gene.

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-linkedAlport 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

[edit]

ARUP COL4A5 gene variant database

LOVD Alport gene variant databases (COL4A5, COL4A3, COL4A4)

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000188153Ensembl, May 2017
  2. ^abcGRCm38: 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

[edit]
Stub icon

This article on agene on the humanX chromosome and/or its associatedprotein is astub. You can help Wikipedia byexpanding it.

Retrieved from "https://en.wikipedia.org/w/index.php?title=Collagen,_type_IV,_alpha_5&oldid=1270766387"
Categories:
Hidden categories:

[8]ページ先頭

©2009-2025 Movatter.jp