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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''ATP-binding cassette sub-family G member 5''' is a [[protein]] that in humans is encoded by the ''ABCG5'' [[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="pmid11452359">{{cite journal | vauthors = 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 | 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 = American Journal of Human Genetics | volume = 69 | issue = 2 | pages = 278–90 | date = Aug 2001 | pmid = 11452359 | pmc = 1201544 | doi = 10.1086/321294 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)
| HGNCid = 13886
| Symbol = ABCG5
| AltSymbols =; STSL
| OMIM = 605459
| ECnumber = 
| Homologene = 31909
| MGIid = 1351659
| GeneAtlas_image1 = PBB_GE_ABCG5_220383_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003674 |text = molecular_function}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_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}} {{GNF_GO|id=GO:0030299 |text = cholesterol absorption}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 64240
    | Hs_Ensembl = ENSG00000138075
    | Hs_RefseqProtein = NP_071881
    | Hs_RefseqmRNA = NM_022436
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 43893115
    | Hs_GenLoc_end = 43919462
    | Hs_Uniprot = Q9H222
    | Mm_EntrezGene = 27409
    | Mm_Ensembl = ENSMUSG00000040505
    | Mm_RefseqmRNA = NM_031884
    | Mm_RefseqProtein = NP_114090
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 84566560
    | Mm_GenLoc_end = 84591337
    | Mm_Uniprot = Q540E8
  }}
}}
'''ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)''', also known as '''ABCG5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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 ABCG8. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.<ref name="entrez"/>
{{PBB_Summary
| 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 ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia.<ref name="entrez">{{cite web | title = Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240| accessdate = }}</ref>
}}


==See also==
==Interactive pathway map==
{{StatinPathway_WP430|highlight=ABCG5}}
 
== See also ==
* [[ATP-binding cassette transporter]]
* [[ATP-binding cassette transporter]]


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


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Schmitz G, Langmann T, Heimerl S | title = Role of ABCG1 and other ABCG family members in lipid metabolism | journal = Journal of Lipid Research | volume = 42 | issue = 10 | pages = 1513–20 | date = Oct 2001 | pmid = 11590207 | doi =  }}
| citations =
* {{cite journal | vauthors = Patel SB, Salen G, Hidaka H, Kwiterovich PO, Stalenhoef AF, Miettinen TA, Grundy SM, Lee MH, Rubenstein JS, Polymeropoulos MH, Brownstein MJ | title = Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21 | journal = The Journal of Clinical Investigation | volume = 102 | issue = 5 | pages = 1041–4 | date = Sep 1998 | pmid = 9727073 | pmc = 508970 | doi = 10.1172/JCI3963 }}
*{{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 = Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, Patel SB | title = Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 79–83 | date = Jan 2001 | pmid = 11138003 | pmc = 1350991 | doi = 10.1038/83799 }}
*{{cite journal | author=Patel SB, Salen G, Hidaka H, ''et al.'' |title=Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. |journal=J. Clin. Invest. |volume=102 |issue= 5 |pages= 1041-4 |year= 1998 |pmid= 9727073 |doi= }}
* {{cite journal | vauthors = Shulenin S, Schriml LM, Remaley AT, Fojo S, Brewer B, Allikmets R, Dean M | title = An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus | journal = Cytogenetics and Cell Genetics | volume = 92 | issue = 3-4 | pages = 204–8 | year = 2001 | pmid = 11435688 | doi = 10.1159/000056903 }}
*{{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 = Hubacek JA, Berge KE, Cohen JC, Hobbs HH | title = Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia | journal = Human Mutation | volume = 18 | issue = 4 | pages = 359–60 | date = Oct 2001 | pmid = 11668628 | doi = 10.1002/humu.1206 }}
*{{cite journal | author=Lee MH, Lu K, Hazard S, ''et al.'' |title=Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 79-83 |year= 2001 |pmid= 11138003 |doi= 10.1038/83799 }}
* {{cite journal | vauthors = Lam CW, Cheng AW, Tong SF, Chan YW | title = Novel donor splice site mutation of ABCG5 gene in sitosterolemia | journal = Molecular Genetics and Metabolism | volume = 75 | issue = 2 | pages = 178–80 | date = Feb 2002 | pmid = 11855938 | doi = 10.1006/mgme.2001.3285 }}
*{{cite journal | author=Shulenin S, Schriml LM, Remaley AT, ''et al.'' |title=An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus. |journal=Cytogenet. Cell Genet. |volume=92 |issue= 3-4 |pages= 204-8 |year= 2001 |pmid= 11435688 |doi= }}
* {{cite journal | vauthors = Lu K, Lee MH, Yu H, Zhou Y, Sandell SA, Salen G, Patel SB | title = Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8 | journal = Journal of Lipid Research | volume = 43 | issue = 4 | pages = 565–78 | date = Apr 2002 | pmid = 11907139 | pmc = 1815568 | doi =  }}
*{{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 = Heimerl S, Langmann T, Moehle C, Mauerer R, Dean M, Beil FU, von Bergmann K, Schmitz G | title = Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia | journal = Human Mutation | volume = 20 | issue = 2 | pages = 151 | date = Aug 2002 | pmid = 12124998 | doi = 10.1002/humu.9047 }}
*{{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 = Remaley AT, Bark S, Walts AD, Freeman L, Shulenin S, Annilo T, Elgin E, Rhodes HE, Joyce C, Dean M, Santamarina-Fojo S, Brewer HB | title = Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster | journal = Biochemical and Biophysical Research Communications | volume = 295 | issue = 2 | pages = 276–82 | date = Jul 2002 | pmid = 12150943 | doi = 10.1016/S0006-291X(02)00652-6 }}
*{{cite journal | author=Lam CW, Cheng AW, Tong SF, Chan YW |title=Novel donor splice site mutation of ABCG5 gene in sitosterolemia. |journal=Mol. Genet. Metab. |volume=75 |issue= 2 |pages= 178-80 |year= 2002 |pmid= 11855938 |doi= 10.1006/mgme.2001.3285 }}
* {{cite journal | vauthors = Graf GA, Li WP, Gerard RD, Gelissen I, White A, Cohen JC, Hobbs HH | title = Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface | journal = The Journal of Clinical Investigation | volume = 110 | issue = 5 | pages = 659–69 | date = Sep 2002 | pmid = 12208867 | pmc = 151110 | doi = 10.1172/JCI16000 }}
*{{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 = Yu L, Li-Hawkins J, Hammer RE, Berge KE, Horton JD, Cohen JC, Hobbs HH | title = Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol | journal = The Journal of Clinical Investigation | volume = 110 | issue = 5 | pages = 671–80 | date = Sep 2002 | pmid = 12208868 | pmc = 151111 | doi = 10.1172/JCI16001 }}
*{{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 = Graf GA, Yu L, Li WP, Gerard R, Tuma PL, Cohen JC, Hobbs HH | title = ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion | journal = The Journal of Biological Chemistry | volume = 278 | issue = 48 | pages = 48275–82 | date = Nov 2003 | pmid = 14504269 | doi = 10.1074/jbc.M310223200 }}
*{{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 = Kajinami K, Brousseau ME, Nartsupha C, Ordovas JM, Schaefer EJ | title = ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin | journal = Journal of Lipid Research | volume = 45 | issue = 4 | pages = 653–6 | date = Apr 2004 | pmid = 14703505 | doi = 10.1194/jlr.M300278-JLR200 }}
*{{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 = Freeman LA, Kennedy A, Wu J, Bark S, Remaley AT, Santamarina-Fojo S, Brewer HB | title = The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter | journal = Journal of Lipid Research | volume = 45 | issue = 7 | pages = 1197–206 | date = Jul 2004 | pmid = 15121760 | doi = 10.1194/jlr.C400002-JLR200 }}
*{{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 = Yu L, Gupta S, Xu F, Liverman AD, Moschetta A, Mangelsdorf DJ, Repa JJ, Hobbs HH, Cohen JC | title = Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion | journal = The Journal of Biological Chemistry | volume = 280 | issue = 10 | pages = 8742–7 | date = Mar 2005 | pmid = 15611112 | doi = 10.1074/jbc.M411080200 }}
*{{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 | 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 | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{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 | author=Freeman LA, Kennedy A, Wu J, ''et al.'' |title=The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter. |journal=J. Lipid Res. |volume=45 |issue= 7 |pages= 1197-206 |year= 2005 |pmid= 15121760 |doi= 10.1194/jlr.C400002-JLR200 }}
*{{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 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|ABCG5+protein,+human}}
* {{MeshName|ABCG5+protein,+human}}
* {{UCSC gene info|ABCG5}}


{{membrane-protein-stub}}
{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
{{Lipoproteins}}
 
[[Category:ABC transporters]]
[[Category:ABC transporters]]
{{WikiDoc Sources}}
 
{{DEFAULTSORT:Abcfm}}

Latest revision as of 17:40, 29 August 2017

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Wikidata
View/Edit Human

ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene.[1][2][3]

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. 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 ABCG8. 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]

[[File:
<imagemap> Image:StatinPathway_WP430.png
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<imagemap> Image:StatinPathway_WP430.png
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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. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)".

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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