ABCG4

ABCG4
Identifiers
Aliases	ABCG4 , WHITE2, ATP binding cassette subfamily G member 4
External IDs	OMIM: 607784; MGI: 1890594; HomoloGene: 75179; GeneCards: ABCG4; OMA:ABCG4 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q23.3 Start 119,149,052 bp [1] End 119,162,653 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 A5.2 Start 44,184,485 bp [2] End 44,199,912 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe prefrontal cortex lateral nuclear group of thalamus oocyte primary visual cortex secondary oocyte dorsolateral prefrontal cortex Brodmann area 9 anterior cingulate cortex Top expressed in neural layer of retina superior frontal gyrus cerebellar cortex primary visual cortex dentate gyrus of hippocampal formation granule cell superior colliculus dorsal tegmental nucleus habenula nucleus of stria terminalis subiculum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ATPase activity protein binding ATP binding cholesterol transfer activity protein homodimerization activity ABC-type sterol transporter activity protein heterodimerization activity ATPase-coupled transmembrane transporter activity Cellular component integral component of membrane plasma membrane membrane Biological process transmembrane transport cholesterol efflux cellular response to leukemia inhibitory factor cholesterol transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64137 192663 Ensembl ENSG00000172350 ENSMUSG00000032131 UniProt Q9H172 Q91WA9 RefSeq (mRNA) NM_001142505 NM_022169 NM_001348191 NM_001348192 NM_138955 RefSeq (protein) NP_001135977 NP_071452 NP_001335120 NP_001335121 NP_620405 Location (UCSC) Chr 11: 119.15 – 119.16 Mb Chr 9: 44.18 – 44.2 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family G member 4 is a protein that in humans is encoded by the ABCG4 gene. ^{[5] [6]}

The protein encoded by this gene is included in the ATP-binding cassette transporter (ABC protein) superfamily. 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 and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. ^[6]

ABCG4 has demonstrated, in vitro, to participate in the efflux of desmosterol and amyloid-β peptide (Aβ). It is highly expressed in the brain, but its localization and function at the blood-brain barrier (BBB) level remain unknown. ^[7]

See also

• ATP-binding cassette transporter

References

1. GRCh38: Ensembl release 89: ENSG00000172350 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032131 – Ensembl, 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. Dean M, Rzhetsky A, Allikmets R (Jul 2001). "The human ATP-binding cassette (ABC) transporter superfamily". Genome Res. 11 (7): 1156–66. doi: 10.1101/gr.184901 . PMID   11435397. S2CID   9528197.
6. "Entrez Gene: ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4".
7. Dodacki, Agnès (2017). "Expression and function of Abcg4 in the mouse blood-brain barrier: role in restricting the brain entry of amyloid-β peptide". Scientific Reports. 7 (1). Springer Nature: 13393. Bibcode:2017NatSR...713393D. doi:10.1038/s41598-017-13750-0. PMC   5645361 . PMID   29042617.

Further reading

• Engel T, Lorkowski S, Lueken A, et al. (2001). "The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages". Biochem. Biophys. Res. Commun. 288 (2): 483–8. doi:10.1006/bbrc.2001.5756. PMID   11606068.
• Annilo T, Tammur J, Hutchinson A, et al. (2002). "Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4". Cytogenet. Cell Genet. 94 (3–4): 196–201. doi:10.1159/000048816. PMID   11856881. S2CID   19897612.
• Yoshikawa M, Yabuuchi H, Kuroiwa A, et al. (2002). "Molecular and cytogenetic characterization of the mouse ATP-binding cassette transporter Abcg4". Gene. 293 (1–2): 67–75. doi:10.1016/S0378-1119(02)00719-9. PMID   12137944.
• Oldfield S, Lowry C, Ruddick J, Lightman S (2002). "ABCG4: a novel human white family ABC-transporter expressed in the brain and eye". Biochim. Biophys. Acta. 1591 (1–3): 175–9. doi:10.1016/S0167-4889(02)00269-0. PMID   12183068.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Cserepes J, Szentpétery Z, Seres L, et al. (2004). "Functional expression and characterization of the human ABCG1 and ABCG4 proteins: indications for heterodimerization". Biochem. Biophys. Res. Commun. 320 (3): 860–7. doi:10.1016/j.bbrc.2004.06.037. PMID   15240127.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Engel T, Bode G, Lueken A, et al. (2006). "Expression and functional characterization of ABCG1 splice variant ABCG1(666)". FEBS Lett. 580 (18): 4551–9. Bibcode:2006FEBSL.580.4551E. doi: 10.1016/j.febslet.2006.07.006 . PMID   16870176. S2CID   22947257.
• Vaughan AM, Oram JF (2007). "ABCA1 and ABCG1 or ABCG4 act sequentially to remove cellular cholesterol and generate cholesterol-rich HDL". J. Lipid Res. 47 (11): 2433–43. doi: 10.1194/jlr.M600218-JLR200 . PMID   16902247. S2CID   15872767.

External links

• ABCG4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ABCG4 genome location and ABCG4 gene details page in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.