ABCG1

ATP-binding cassette sub-family G member 1 is a protein that in humans is encoded by the ABCG1 gene.[5][6][7] It is a homolog of the well-known Drosophila gene white.

ABCG1
Identifiers
Aliases	ABCG1, ABC8, WHITE1, ATP binding cassette subfamily G member 1
External IDs	OMIM: 603076 MGI: 107704 HomoloGene: 21022 GeneCards: ABCG1
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 42,199,689 bp[1] End 42,297,244 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A3.3 Start 31,057,675 bp[2] End 31,117,988 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • protein dimerization activity • protein homodimerization activity • ADP binding • phospholipid transporter activity • sterol-transporting ATPase activity • cholesterol binding • ATPase activity • toxin transporter activity • GO:0001948 protein binding • protein heterodimerization activity • phospholipid binding • ATP binding • GO:0017127 cholesterol transfer activity • ATPase activity, coupled to transmembrane movement of substances Cellular component • integral component of membrane • recycling endosome • endosome • Golgi apparatus • endoplasmic reticulum membrane • membrane • Golgi membrane • cell membrane • integral component of plasma membrane • endoplasmic reticulum • mitochondrion • external side of plasma membrane Biological process • phospholipid homeostasis • lipid transport • regulation of transcription, DNA-templated • detection of hormone stimulus • phospholipid efflux • glycoprotein transport • cholesterol transport • cholesterol metabolic process • response to organic substance • negative regulation of cholesterol storage • response to lipid • intracellular cholesterol transport • low-density lipoprotein particle remodeling • positive regulation of cholesterol efflux • transmembrane transport • cholesterol efflux • positive regulation of cholesterol biosynthetic process • negative regulation of lipid storage • cholesterol homeostasis • regulation of cholesterol esterification • negative regulation of macrophage derived foam cell differentiation • amyloid precursor protein catabolic process • reverse cholesterol transport • toxin transport • high-density lipoprotein particle remodeling • transport • cellular response to high density lipoprotein particle stimulus • positive regulation of protein secretion • positive regulation of amyloid-beta formation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9619	11307
Ensembl	ENSG00000160179	ENSMUSG00000024030
UniProt	P45844	Q64343
RefSeq (mRNA)	NM_004915 NM_016818 NM_207174 NM_207627 NM_207628 NM_207629 NM_207630	NM_009593
RefSeq (protein)	NP_004906 NP_058198 NP_997057 NP_997510 NP_997511 NP_997512	NP_033723
Location (UCSC)	Chr 21: 42.2 – 42.3 Mb	Chr 17: 31.06 – 31.12 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene is a member of the superfamily of ATP-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. It is involved in macrophage, cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Several alternative splice variants have been identified.[7]

See also

• ATP-binding cassette transporter

References

1. GRCh38: Ensembl release 89: ENSG00000160179 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024030 - 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. Chen H, Rossier C, Lalioti MD, Lynn A, Chakravarti A, Perrin G, Antonarakis SE (Jul 1996). "Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3". American Journal of Human Genetics. 59 (1): 66–75. PMC 1915121. PMID 8659545.
6. Engel T, Bode G, Lueken A, Knop M, Kannenberg F, Nofer JR, Assmann G, Seedorf U (Aug 2006). "Expression and functional characterization of ABCG1 splice variant ABCG1(666)". FEBS Letters. 580 (18): 4551–9. doi:10.1016/j.febslet.2006.07.006. PMID 16870176.
7. "Entrez Gene: ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1".

Further reading

• Schmitz G, Langmann T, Heimerl S (Oct 2001). "Role of ABCG1 and other ABCG family members in lipid metabolism". Journal of Lipid Research. 42 (10): 1513–20. PMID 11590207.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Savary S, Denizot F, Luciani M, Mattei M, Chimini G (Sep 1996). "Molecular cloning of a mammalian ABC transporter homologous to Drosophila white gene". Mammalian Genome. 7 (9): 673–6. doi:10.1007/s003359900203. PMID 8703120.
• Croop JM, Tiller GE, Fletcher JA, Lux ML, Raab E, Goldenson D, Son D, Arciniegas S, Wu RL (Jan 1997). "Isolation and characterization of a mammalian homolog of the Drosophila white gene". Gene. 185 (1): 77–85. doi:10.1016/S0378-1119(96)00633-6. PMID 9034316.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Klucken J, Büchler C, Orsó E, Kaminski WE, Porsch-Ozcürümez M, Liebisch G, Kapinsky M, Diederich W, Drobnik W, Dean M, Allikmets R, Schmitz G (Jan 2000). "ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport". Proceedings of the National Academy of Sciences of the United States of America. 97 (2): 817–22. Bibcode:2000PNAS...97..817K. doi:10.1073/pnas.97.2.817. PMC 15414. PMID 10639163.
• Venkateswaran A, Repa JJ, Lobaccaro JM, Bronson A, Mangelsdorf DJ, Edwards PA (May 2000). "Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages. A transcriptional role for specific oxysterols". The Journal of Biological Chemistry. 275 (19): 14700–7. doi:10.1074/jbc.275.19.14700. PMID 10799558.
• Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonné-Tamir B (Aug 2000). "Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region". Genomics. 68 (1): 22–9. doi:10.1006/geno.2000.6253. PMID 10950923.
• Langmann T, Porsch-Ozcürümez M, Unkelbach U, Klucken J, Schmitz G (Nov 2000). "Genomic organization and characterization of the promoter of the human ATP-binding cassette transporter-G1 (ABCG1) gene". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1494 (1–2): 175–80. doi:10.1016/s0167-4781(00)00215-3. PMID 11072082.
• Lorkowski S, Rust S, Engel T, Jung E, Tegelkamp K, Galinski EA, Assmann G, Cullen P (Jan 2001). "Genomic sequence and structure of the human ABCG1 (ABC8) gene". Biochemical and Biophysical Research Communications. 280 (1): 121–31. doi:10.1006/bbrc.2000.4089. PMID 11162488.
• Porsch-Ozcurumez M, Langmann T, Heimerl S, Borsukova H, Kaminski WE, Drobnik W, Honer C, Schumacher C, Schmitz G (Apr 2001). "The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux". The Journal of Biological Chemistry. 276 (15): 12427–33. doi:10.1074/jbc.M100218200. PMID 11279031.
• Lorkowski S, Kratz M, Wenner C, Schmidt R, Weitkamp B, Fobker M, Reinhardt J, Rauterberg J, Galinski EA, Cullen P (May 2001). "Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease". Biochemical and Biophysical Research Communications. 283 (4): 821–30. doi:10.1006/bbrc.2001.4863. PMID 11350058.
• Kennedy MA, Venkateswaran A, Tarr PT, Xenarios I, Kudoh J, Shimizu N, Edwards PA (Oct 2001). "Characterization of the human ABCG1 gene: liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein". The Journal of Biological Chemistry. 276 (42): 39438–47. doi:10.1074/jbc.M105863200. PMID 11500512.
• Kaplan R, Gan X, Menke JG, Wright SD, Cai TQ (Jun 2002). "Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway". Journal of Lipid Research. 43 (6): 952–9. PMID 12032171.
• Cserepes J, Szentpétery Z, Seres L, Ozvegy-Laczka C, Langmann T, Schmitz G, Glavinas H, Klein I, Homolya L, Váradi A, Sarkadi B, Elkind NB (Jul 2004). "Functional expression and characterization of the human ABCG1 and ABCG4 proteins: indications for heterodimerization". Biochemical and Biophysical Research Communications. 320 (3): 860–7. doi:10.1016/j.bbrc.2004.06.037. PMID 15240127.

External links

• ABCG1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human ABCG1 genome location and ABCG1 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.