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
- FunctionsATP binding / ATPase activity, coupled to transmembrane movement of substances / protein heterodimerization activity / sterol transporter activityProcessescholesterol 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 transportComponentsapical 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
Resource Link UniProtKB ID Q9H221 UniProtKB Entry Name ABCG8_HUMAN HGNC ID HGNC:13887 - General References
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]