ATP-binding cassette sub-family G member 8

Details

Name
ATP-binding cassette sub-family G member 8
Synonyms
  • Sterolin-2
Gene Name
ABCG8
Organism
Humans
Amino acid sequence
>lcl|BSEQ0008600|ATP-binding cassette sub-family G member 8
MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLAS
QVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITG
RGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFS
QAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHM
VQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFL
WKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH
GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY
ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVF
CCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCF
EGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYV
SLRFIKQKPSQDW
Number of residues
673
Molecular Weight
75678.03
Theoretical pI
Not Available
GO Classification
Functions
ATP binding / ATPase activity, coupled to transmembrane movement of substances / protein heterodimerization activity / sterol transporter activity
Processes
cholesterol efflux / cholesterol homeostasis / excretion / intestinal cholesterol absorption / negative regulation of intestinal cholesterol absorption / negative regulation of intestinal phytosterol absorption / phospholipid transport / response to drug / response to nutrient / small molecule metabolic process / sterol transport / transmembrane transport
Components
apical plasma membrane / ATP-binding cassette (ABC) transporter complex / plasma membrane / receptor complex
General Function
Sterol transporter activity
Specific Function
Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile.
Pfam Domain Function
Transmembrane Regions
417-437 448-468 493-513 532-552 570-590 640-660
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0021706|ATP-binding cassette sub-family G member 8 (ABCG8)
ATGGCCGGGAAGGCGGCAGAGGAGAGAGGGCTGCCGAAAGGGGCCACTCCCCAGGATACC
TCGGGCCTCCAGGATAGATTGTTCTCCTCTGAAAGTGACAACAGCCTGTACTTCACCTAC
AGTGGCCAGCCCAACACCCTGGAGGTCAGAGACCTCAACTACCAGGTGGACCTGGCCTCT
CAGGTCCCTTGGTTTGAGCAGCTGGCTCAGTTCAAGATGCCCTGGACATCTCCCAGCTGC
CAGAATTCTTGTGAGCTGGGCATCCAGAACCTAAGCTTCAAAGTGAGAAGTGGGCAGATG
CTGGCCATCATAGGGAGCTCAGGTTGTGGGAGAGCCTCCTTGCTAGATGTGATCACTGGC
CGAGGTCACGGCGGCAAGATCAAGTCAGGCCAGATCTGGATCAATGGGCAGCCCAGCTCG
CCTCAGCTGGTGAGGAAGTGTGTGGCCCACGTGCGCCAGCACAACCAGCTGCTCCCCAAC
TTGACTGTGCGAGAGACCTTGGCCTTCATTGCCCAGATGCGGCTGCCCAGAACCTTCTCC
CAGGCCCAGCGTGACAAAAGGGTGGAGGACGTGATCGCGGAGCTGCGGCTTAGGCAGTGC
GCTGACACCCGCGTGGGCAACATGTACGTGCGGGGGTTGTCGGGGGGTGAGCGCAGGAGA
GTCAGCATTGGGGTGCAGCTCCTGTGGAACCCAGGAATCCTTATTCTCGACGAACCCACC
TCTGGGCTCGACAGCTTCACAGCCCACAACCTGGTGAAGACCTTGTCCAGGCTGGCCAAA
GGCAACCGGCTGGTGCTCATCTCCCTCCACCAGCCTCGCTCTGACATCTTCAGGCTGTTT
GATCTGGTCCTCCTGATGACGTCTGGCACCCCCATCTACTTAGGGGCGGCCCAGCACATG
GTCCAGTATTTCACAGCCATCGGCTACCCCTGTCCTCGCTACAGCAATCCTGCTGACTTC
TATGTGGACCTGACCAGCATTGACAGGCGCAGCAGAGAGCAGGAATTGGCCACCAGGGAG
AAGGCTCAGTCACTCGCAGCCCTGTTTCTAGAAAAAGTGCGTGACTTAGATGACTTTCTA
TGGAAAGCAGAGACGAAGGATCTTGACGAGGACACCTGTGTGGAAAGCAGCGTGACCCCA
CTAGACACCAACTGCCTCCCGAGTCCTACGAAGATGCCTGGGGCGGTGCAGCAGTTTACG
ACGCTGATCCGTCGTCAGATTTCCAACGACTTCCGAGACCTGCCCACCCTCCTCATCCAT
GGGGCGGAGGCCTGTCTGATGTCAATGACCATCGGCTTCCTCTATTTTGGCCATGGGAGC
ATCCAGCTCTCCTTCATGGATACAGCCGCCCTCTTGTTCATGATCGGTGCTCTCATCCCT
TTCAACGTCATTCTGGATGTCATCTCCAAATGTTACTCAGAGAGGGCAATGCTTTACTAT
GAACTGGAAGACGGGCTGTACACCACTGGTCCATATTTCTTTGCCAAGATCCTCGGGGAG
CTTCCGGAGCACTGTGCCTACATCATCATCTACGGGATGCCCACCTACTGGCTGGCCAAC
CTGAGGCCAGGCCTCCAGCCCTTCCTGCTGCACTTCCTGCTGGTGTGGCTGGTGGTCTTC
TGTTGCAGGATTATGGCCCTGGCCGCCGCGGCCCTGCTCCCCACCTTCCACATGGCCTCC
TTCTTCAGCAATGCCCTCTACAACTCCTTCTACCTCGCCGGGGGCTTCATGATAAACTTG
AGCAGCCTGTGGACAGTGCCCGCGTGGATTTCCAAAGTGTCCTTCCTGCGGTGGTGTTTT
GAAGGGCTGATGAAGATTCAGTTCAGCAGAAGAACTTATAAAATGCCTCTCGGGAACCTC
ACCATCGCGGTCTCAGGAGATAAAATCCTCAGTGTCATGGAGCTGGACTCGTACCCTCTC
TACGCCATCTACCTCATCGTCATTGGCCTCAGCGGTGGCTTCATGGTCCTGTACTACGTG
TCCTTAAGGTTCATCAAACAGAAACCAAGTCAAGACTGGTGA
Chromosome Location
2
Locus
Not Available
External Identifiers
ResourceLink
UniProtKB IDQ9H221
UniProtKB Entry NameABCG8_HUMAN
HGNC IDHGNC:13887
General References
  1. Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH: Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000 Dec 1;290(5497):1771-5. [PubMed: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 Jr, Salen G, Dean M, Srivastava A, Patel SB: 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. Am J Hum Genet. 2001 Aug;69(2):278-90. Epub 2001 Jul 9. [PubMed:11452359]
  3. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed:15815621]
  4. Schmitz G, Langmann T, Heimerl S: Role of ABCG1 and other ABCG family members in lipid metabolism. J Lipid Res. 2001 Oct;42(10):1513-20. [PubMed:11590207]
  5. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [PubMed:24275569]
  6. Hubacek JA, Berge KE, Cohen JC, Hobbs HH: Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat. 2001 Oct;18(4):359-60. [PubMed:11668628]
  7. Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, Harigae S, Osawa S, Nakamura Y: 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. J Hum Genet. 2002;47(6):285-310. [PubMed:12111378]
  8. Buch S, Schafmayer C, Volzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bassmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Holl C, Seeger M, ElSharawy A, Lu T, Egberts J, Fandrich F, Folsch UR, Krawczak M, Schreiber S, Nurnberg P, Tepel J, Hampe J: A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet. 2007 Aug;39(8):995-9. Epub 2007 Jul 15. [PubMed:17632509]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB11635TocofersolanapprovednosubstrateDetails