ABCG8: Difference between revisions

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{{Infobox_gene}}
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'''ATP-binding cassette sub-family G member 8''' is a [[protein]] that in humans is encoded by the ''ABCG8'' [[gene]].<ref name="pmid11099417">{{cite journal | vauthors = Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH | title = Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters | journal = Science | volume = 290 | issue = 5497 | pages = 1771–5 |date=Dec 2000 | pmid = 11099417 | pmc =  | doi =10.1126/science.290.5497.1771  }}</ref><ref name="pmid17626266">{{cite journal | vauthors = Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, Mosteanu O, Sauerbruch T, Lammert F | title = Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol | journal = Hepatology | volume = 46 | issue = 3 | pages = 793–801 |date=Sep 2007 | pmid = 17626266 | pmc =  | doi = 10.1002/hep.21847 }}</ref><ref name="entrez"/>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)
| HGNCid = 13887
| Symbol = ABCG8
| AltSymbols =; STSL; MGC142217
| OMIM = 605460
| ECnumber = 
| Homologene = 23361
| MGIid = 1914720
| Function = {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
  | Process = {{GNF_GO|id=GO:0006810 |text = transport}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 64241
    | Hs_Ensembl = ENSG00000143921
    | Hs_RefseqProtein = NP_071882
    | Hs_RefseqmRNA = NM_022437
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 43919607
    | Hs_GenLoc_end = 43959109
    | Hs_Uniprot = Q9H221
    | Mm_EntrezGene = 67470
    | Mm_Ensembl = ENSMUSG00000024254
    | Mm_RefseqmRNA = XM_985210
    | Mm_RefseqProtein = XP_990304
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 84591457
    | Mm_GenLoc_end = 84608659
    | Mm_Uniprot = Q7TSR6
  }}
}}
'''ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)''', also known as '''ABCG8''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64241| accessdate = }}</ref>


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| section_title =  
| section_title =  
| summary_text = 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. 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 member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.<ref name="entrez">{{cite web | title = Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64241| accessdate = }}</ref>
| summary_text = 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. 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 member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.<ref name="entrez">{{cite web | title = Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64241| accessdate = }}</ref>
}}
}}
==Interactive pathway map==
{{StatinPathway_WP430|highlight=ABCG8}}


==See also==
==See also==
Line 57: Line 15:


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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| citations =  
| citations =  
*{{cite journal  | author=Schmitz G, Langmann T, Heimerl S |title=Role of ABCG1 and other ABCG family members in lipid metabolism. |journal=J. Lipid Res. |volume=42 |issue= 10 |pages= 1513-20 |year= 2002 |pmid= 11590207 |doi=  }}
*{{cite journal  | vauthors=Schmitz G, Langmann T, Heimerl S |title=Role of ABCG1 and other ABCG family members in lipid metabolism. |journal=J. Lipid Res. |volume=42 |issue= 10 |pages= 1513–20 |year= 2002 |pmid= 11590207 |doi=  }}
*{{cite journal  | author=Berge KE, Tian H, Graf GA, ''et al.'' |title=Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. |journal=Science |volume=290 |issue= 5497 |pages= 1771-5 |year= 2000 |pmid= 11099417 |doi=  }}
*{{cite journal  | vauthors=Lu K, Lee MH, Hazard S |title=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 |journal=Am. J. Hum. Genet. |volume=69 |issue= 2 |pages= 278–90 |year= 2001 |pmid= 11452359 |doi=10.1086/321294 | pmc=1201544  |display-authors=etal}}
*{{cite journal  | author=Lu K, Lee MH, Hazard S, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=69 |issue= 2 |pages= 278-90 |year= 2001 |pmid= 11452359 |doi= }}
*{{cite journal  | vauthors=Hubacek JA, Berge KE, Cohen JC, Hobbs HH |title=Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 359–60 |year= 2002 |pmid= 11668628 |doi= 10.1002/humu.1206 }}
*{{cite journal  | author=Hubacek JA, Berge KE, Cohen JC, Hobbs HH |title=Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 359-60 |year= 2002 |pmid= 11668628 |doi= 10.1002/humu.1206 }}
*{{cite journal  | vauthors=Berge KE, von Bergmann K, Lutjohann D |title=Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8 |journal=J. Lipid Res. |volume=43 |issue= 3 |pages= 486–94 |year= 2002 |pmid= 11893785 |doi= |display-authors=etal}}
*{{cite journal  | author=Berge KE, von Bergmann K, Lutjohann D, ''et al.'' |title=Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. |journal=J. Lipid Res. |volume=43 |issue= 3 |pages= 486-94 |year= 2002 |pmid= 11893785 |doi=  }}
*{{cite journal  | vauthors=Lu K, Lee MH, Yu H |title=Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8 |journal=J. Lipid Res. |volume=43 |issue= 4 |pages= 565–78 |year= 2002 |pmid= 11907139 |doi=  | pmc=1815568  |display-authors=etal}}
*{{cite journal  | author=Lu K, Lee MH, Yu H, ''et al.'' |title=Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. |journal=J. Lipid Res. |volume=43 |issue= 4 |pages= 565-78 |year= 2002 |pmid= 11907139 |doi= }}
*{{cite journal  | vauthors=Iida A, Saito S, Sekine A |title=Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8 |journal=J. Hum. Genet. |volume=47 |issue= 6 |pages= 285–310 |year= 2002 |pmid= 12111378 |doi= 10.1007/s100380200041 |display-authors=etal}}
*{{cite journal  | author=Iida A, Saito S, Sekine A, ''et al.'' |title=Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. |journal=J. Hum. Genet. |volume=47 |issue= 6 |pages= 285-310 |year= 2002 |pmid= 12111378 |doi= 10.1007/s100380200041 }}
*{{cite journal  | vauthors=Heimerl S, Langmann T, Moehle C |title=Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia |journal=Hum. Mutat. |volume=20 |issue= 2 |pages= 151 |year= 2002 |pmid= 12124998 |doi= 10.1002/humu.9047 |display-authors=etal}}
*{{cite journal  | author=Heimerl S, Langmann T, Moehle C, ''et al.'' |title=Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. |journal=Hum. Mutat. |volume=20 |issue= 2 |pages= 151 |year= 2002 |pmid= 12124998 |doi= 10.1002/humu.9047 }}
*{{cite journal  | vauthors=Remaley AT, Bark S, Walts AD |title=Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster |journal=Biochem. Biophys. Res. Commun. |volume=295 |issue= 2 |pages= 276–82 |year= 2002 |pmid= 12150943 |doi=10.1016/S0006-291X(02)00652-6  |display-authors=etal}}
*{{cite journal  | author=Remaley AT, Bark S, Walts AD, ''et al.'' |title=Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster. |journal=Biochem. Biophys. Res. Commun. |volume=295 |issue= 2 |pages= 276-82 |year= 2002 |pmid= 12150943 |doi=  }}
*{{cite journal  | vauthors=Graf GA, Li WP, Gerard RD |title=Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 659–69 |year= 2002 |pmid= 12208867 |doi=10.1172/JCI16000  | pmc=151110 |display-authors=etal}}
*{{cite journal  | author=Graf GA, Li WP, Gerard RD, ''et al.'' |title=Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 659-69 |year= 2002 |pmid= 12208867 |doi=  }}
*{{cite journal  | vauthors=Yu L, Li-Hawkins J, Hammer RE |title=Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 671–80 |year= 2002 |pmid= 12208868 |doi=10.1172/JCI16001  | pmc=151111 |display-authors=etal}}
*{{cite journal  | author=Yu L, Li-Hawkins J, Hammer RE, ''et al.'' |title=Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 671-80 |year= 2002 |pmid= 12208868 |doi=  }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Graf GA, Yu L, Li WP |title=ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion |journal=J. Biol. Chem. |volume=278 |issue= 48 |pages= 48275–82 |year= 2004 |pmid= 14504269 |doi= 10.1074/jbc.M310223200 |display-authors=etal}}
*{{cite journal  | author=Graf GA, Yu L, Li WP, ''et al.'' |title=ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. |journal=J. Biol. Chem. |volume=278 |issue= 48 |pages= 48275-82 |year= 2004 |pmid= 14504269 |doi= 10.1074/jbc.M310223200 }}
*{{cite journal  | vauthors=Kajinami K, Brousseau ME, Nartsupha C |title=ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin |journal=J. Lipid Res. |volume=45 |issue= 4 |pages= 653–6 |year= 2004 |pmid= 14703505 |doi= 10.1194/jlr.M300278-JLR200 |display-authors=etal}}
*{{cite journal  | author=Kajinami K, Brousseau ME, Nartsupha C, ''et al.'' |title=ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. |journal=J. Lipid Res. |volume=45 |issue= 4 |pages= 653-6 |year= 2004 |pmid= 14703505 |doi= 10.1194/jlr.M300278-JLR200 }}
*{{cite journal  | vauthors=Hubácek JA, Berge KE, Stefková J |title=Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels |journal=Physiological research / Academia Scientiarum Bohemoslovaca |volume=53 |issue= 4 |pages= 395–401 |year= 2005 |pmid= 15311998 |doi= |display-authors=etal}}
*{{cite journal  | author=Hubácek JA, Berge KE, Stefková J, ''et al.'' |title=Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. |journal=Physiological research / Academia Scientiarum Bohemoslovaca |volume=53 |issue= 4 |pages= 395-401 |year= 2005 |pmid= 15311998 |doi= }}
*{{cite journal  | vauthors=Yu L, Gupta S, Xu F |title=Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion |journal=J. Biol. Chem. |volume=280 |issue= 10 |pages= 8742–7 |year= 2005 |pmid= 15611112 |doi= 10.1074/jbc.M411080200 |display-authors=etal}}
*{{cite journal  | author=Yu L, Gupta S, Xu F, ''et al.'' |title=Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion. |journal=J. Biol. Chem. |volume=280 |issue= 10 |pages= 8742-7 |year= 2005 |pmid= 15611112 |doi= 10.1074/jbc.M411080200 }}
*{{cite journal  | vauthors=Langheim S, Yu L, von Bergmann K |title=ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile |journal=J. Lipid Res. |volume=46 |issue= 8 |pages= 1732–8 |year= 2005 |pmid= 15930516 |doi= 10.1194/jlr.M500115-JLR200 |display-authors=etal}}
*{{cite journal  | author=Langheim S, Yu L, von Bergmann K, ''et al.'' |title=ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile. |journal=J. Lipid Res. |volume=46 |issue= 8 |pages= 1732-8 |year= 2005 |pmid= 15930516 |doi= 10.1194/jlr.M500115-JLR200 }}
*{{cite journal  | vauthors=Miettinen TA, Klett EL, Gylling H |title=Liver Transplantation in a Patient With Sitosterolemia and Cirrhosis |journal=Gastroenterology |volume=130 |issue= 2 |pages= 542–7 |year= 2006 |pmid= 16472606 |doi= 10.1053/j.gastro.2005.10.022 | pmc=1391914 |display-authors=etal}}
*{{cite journal | author=Miettinen TA, Klett EL, Gylling H, ''et al.'' |title=Liver transplantation in a patient with sitosterolemia and cirrhosis. |journal=Gastroenterology |volume=130 |issue= 2 |pages= 542-7 |year= 2006 |pmid= 16472606 |doi= 10.1053/j.gastro.2005.10.022 }}
*{{cite journal  | vauthors=Lally S, Tan CY, Owens D, Tomkin GH |title=Messenger RNA levels of genes involved in dysregulation of postprandial lipoproteins in type 2 diabetes: the role of Niemann-Pick C1-like 1, ATP-binding cassette, transporters G5 and G8, and of microsomal triglyceride transfer protein |journal=Diabetologia |volume=49 |issue= 5 |pages= 1008–16 |year= 2006 |pmid= 16518588 |doi= 10.1007/s00125-006-0177-8 }}
*{{cite journal  | author=Lally S, Tan CY, Owens D, Tomkin GH |title=Messenger RNA levels of genes involved in dysregulation of postprandial lipoproteins in type 2 diabetes: the role of Niemann-Pick C1-like 1, ATP-binding cassette, transporters G5 and G8, and of microsomal triglyceride transfer protein. |journal=Diabetologia |volume=49 |issue= 5 |pages= 1008-16 |year= 2006 |pmid= 16518588 |doi= 10.1007/s00125-006-0177-8 }}
}}
}}
{{refend}}
{{refend}}
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== External links ==
== External links ==
* {{MeshName|ABCG8+protein,+human}}
* {{MeshName|ABCG8+protein,+human}}
* {{UCSC gene info|ABCG8}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
{{Lipoprotein metabolism}}
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{{DEFAULTSORT:Abcg8}}
[[Category:ABC transporters]]
[[Category:ABC transporters]]
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{{membrane-protein-stub}}

Latest revision as of 17:40, 29 August 2017

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Wikidata
View/Edit Human

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.[1][2][3]

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. 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 member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.[3]

Interactive pathway map

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

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Statin Pathway edit
  1. ↑ The interactive pathway map can be edited at WikiPathways: "Statin_Pathway_WP430".

See also

References

  1. ↑ 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. doi:10.1126/science.290.5497.1771. PMID 11099417.
  2. ↑ Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, Mosteanu O, Sauerbruch T, Lammert F (Sep 2007). "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol". Hepatology. 46 (3): 793–801. doi:10.1002/hep.21847. PMID 17626266.
  3. ↑ 3.0 3.1 "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)".

Further reading

External links

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


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