Movatterモバイル変換


[0]ホーム

URL:


Jump to content
WikipediaThe Free Encyclopedia
Search

ABCG5

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ABCG5
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

5DO7

Identifiers
AliasesABCG5, STSL, ATP binding cassette subfamily G member 5, STSL2
External IDsOMIM:605459;MGI:1351659;HomoloGene:31909;GeneCards:ABCG5;OMA:ABCG5 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ABCG5
Genomic location for ABCG5
Band2p21Start43,812,472bp[1]
End43,838,865bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for ABCG5
Genomic location for ABCG5
Band17 E4|17 55.02 cMStart84,965,662bp[2]
End84,990,439bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • jejunal mucosa

  • right lobe of liver

  • duodenum

  • mucosa of ileum

  • gallbladder

  • gonad

  • prefrontal cortex

  • Brodmann area 9

  • islet of Langerhans

  • kidney
Top expressed in
  • intestinal villus

  • jejunum

  • duodenum

  • ileum

  • epithelium of small intestine

  • crypt of lieberkuhn of small intestine

  • left lobe of liver

  • choroidal fissure

  • Paneth cell

  • left colon
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

64240

27409

Ensembl

ENSG00000138075

ENSMUSG00000040505

UniProt

Q9H222

Q99PE8

RefSeq (mRNA)

NM_022436

NM_031884

RefSeq (protein)

NP_071881

NP_114090

Location (UCSC)Chr 2: 43.81 – 43.84 MbChr 17: 84.97 – 84.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ATP-binding cassette sub-family G member 5 is aprotein that in humans is encoded by theABCG5gene.[5][6][7]

Function

[edit]

The protein encoded by this gene is a member of the superfamily ofATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family memberABCG8. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients withsitosterolemia.[7]

Interactive pathway map

[edit]

Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

  1. ^The interactive pathway map can be edited at WikiPathways:"Statin_Pathway_WP430".

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000138075Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000040505Ensembl, 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. ^Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (Dec 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters".Science.290 (5497):1771–5.Bibcode:2000Sci...290.1771B.doi:10.1126/science.290.5497.1771.PMID 11099417.
  6. ^Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB, Salen G, Dean M, Srivastava A, Patel SB (Aug 2001)."Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively".American Journal of Human Genetics.69 (2):278–90.doi:10.1086/321294.PMC 1201544.PMID 11452359.
  7. ^ab"Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)".

Further reading

[edit]

External links

[edit]
Stub icon

Thismembrane protein–related article is astub. You can help Wikipedia byexpanding it.

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

A
B
C
D
E
F
G
Lipids:lipoprotein particle metabolism
Lipoprotein particle classes
and subclasses
Apolipoproteins
Extracellularenzymes
Lipid transfer proteins
Cell surface receptors
ATP-binding
cassette transporter


Retrieved from "https://en.wikipedia.org/w/index.php?title=ABCG5&oldid=1300568583"
Categories:
Hidden categories:

[8]ページ先頭

©2009-2025 Movatter.jp