ATP-binding cassette sub-family G member 5

Details

Name
ATP-binding cassette sub-family G member 5
Synonyms
  • 7.6.2.-
  • Sterolin-1
Gene Name
ABCG5
UniProtKB Entry
Q9H222Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
Amino acid sequence
>lcl|BSEQ0008599|ATP-binding cassette sub-family G member 5
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC
RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL
RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV
ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF
YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD
SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV
GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA
GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC
AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR
Number of residues
651
Molecular Weight
72503.02
Theoretical pI
Not Available
GO Classification
Functions
ABC-type transporter activity / ATP hydrolysis activity / ATPase-coupled transmembrane transporter activity / cholesterol transfer activity / metal ion binding
Processes
bile acid signaling pathway / response to muscle activity / response to xenobiotic stimulus / triglyceride homeostasis
General Function
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356)
Specific Function
Abc-type transporter activity
Pfam Domain Function
Signal Regions
Not Available
Transmembrane Regions
384-404 422-442 468-489 501-521 529-549 624-644
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0013296|ATP-binding cassette sub-family G member 5 (ABCG5)
ATGGGTGACCTCTCATCTTTGACCCCCGGAGGGTCCATGGGTCTCCAAGTAAACAGAGGC
TCCCAGAGCTCCCTGGAGGGGGCTCCTGCCACCGCCCCGGAGCCTCACAGCCTGGGCATC
CTCCATGCCTCCTACAGCGTCAGCCACCGCGTGAGGCCCTGGTGGGACATCACATCTTGC
CGGCAGCAGTGGACCAGGCAGATCCTCAAAGATGTCTCCTTGTACGTGGAGAGCGGGCAG
ATCATGTGCATCCTAGGAAGCTCAGGCTCCGGGAAAACCACGCTGCTGGACGCCATGTCC
GGGAGGCTGGGGCGCGCGGGGACCTTCCTGGGGGAGGTGTATGTGAACGGCCGGGCGCTG
CGCCGGGAGCAGTTCCAGGACTGCTTCTCCTACGTCCTGCAGAGCGACACCCTGCTGAGC
AGCCTCACCGTGCGCGAGACGCTGCACTACACCGCGCTGCTGGCCATCCGCCGCGGCAAT
CCCGGCTCCTTCCAGAAGAAGGTGGAGGCCGTCATGGCAGAGCTGAGTCTGAGCCATGTG
GCAGACCGACTGATTGGCAACTACAGCTTGGGGGGCATTTCCACGGGTGAGCGGCGCCGG
GTCTCCATCGCAGCCCAGCTGCTCCAGGATCCTAAGGTCATGCTGTTTGATGAGCCAACC
ACAGGCCTGGACTGCATGACTGCTAATCAGATTGTCGTCCTCCTGGTGGAACTGGCTCGC
AGGAACCGAATTGTGGTTCTCACCATTCACCAGCCCCGTTCTGAGCTTTTTCAGCTCTTT
GACAAAATTGCCATCCTGAGCTTCGGAGAGCTGATTTTCTGTGGCACGCCAGCGGAAATG
CTTGATTTCTTCAATGACTGCGGTTACCCTTGTCCTGAACATTCAAACCCTTTTGACTTC
TATATGGACCTGACGTCAGTGGATACCCAAAGCAAGGAACGGGAAATAGAAACCTCCAAG
AGAGTCCAGATGATAGAATCTGCCTACAAGAAATCAGCAATTTGTCATAAAACTTTGAAG
AATATTGAAAGAATGAAACACCTGAAAACGTTACCAATGGTTCCTTTCAAAACCAAAGAT
TCTCCTGGAGTTTTCTCTAAACTGGGTGTTCTCCTGAGGAGAGTGACAAGAAACTTGGTG
AGAAATAAGCTGGCAGTGATTACGCGTCTCCTTCAGAATCTGATCATGGGTTTGTTCCTC
CTTTTCTTCGTTCTGCGGGTCCGAAGCAATGTGCTAAAGGGTGCTATCCAGGACCGCGTA
GGTCTCCTTTACCAGTTTGTGGGCGCCACCCCGTACACAGGCATGCTGAACGCTGTGAAT
CTGTTTCCCGTGCTGCGAGCTGTCAGCGACCAGGAGAGTCAGGACGGCCTCTACCAGAAG
TGGCAGATGATGCTGGCCTATGCACTGCACGTCCTCCCCTTCAGCGTTGTTGCCACCATG
ATTTTCAGCAGTGTGTGCTACTGGACGCTGGGCTTACATCCTGAGGTTGCCCGATTTGGA
TATTTTTCTGCTGCTCTCTTGGCCCCCCACTTAATTGGTGAATTTCTAACTCTTGTGCTA
CTTGGTATCGTCCAAAATCCAAATATAGTCAACAGTGTAGTGGCTCTGCTGTCCATTGCG
GGGGTGCTTGTTGGATCTGGATTCCTCAGAAACATACAAGAAATGCCCATTCCTTTTAAA
ATCATCAGTTATTTTACATTCCAAAAATATTGCAGTGAGATTCTTGTAGTCAATGAGTTC
TACGGACTGAATTTCACTTGTGGCAGCTCAAATGTTTCTGTGACAACTAATCCAATGTGT
GCCTTCACTCAAGGAATTCAATTCATTGAGAAAACCTGCCCAGGTGCAACATCTAGATTC
ACAATGAACTTTCTGATTTTGTATTCATTTATTCCAGCTCTTGTCATCCTAGGAATAGTT
GTTTTCAAAATAAGGGATCATCTCATTAGCAGGTAG
Chromosome Location
2
Locus
2p21
External Identifiers
ResourceLink
UniProtKB IDQ9H222
UniProtKB Entry NameABCG5_HUMAN
GeneCard IDABCG5
HGNC IDHGNC:13886
PDB ID(s)5DO7, 7JR7, 7R87, 7R88, 7R89, 7R8A, 7R8B, 8CUB
KEGG IDhsa:64240
NCBI Gene ID64240
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. [Article]
  2. 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: Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001 Jan;27(1):79-83. [Article]
  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. [Article]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  5. 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]
  6. 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]
  7. 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]

Associated Data

Bio-Entities
Bio-EntityType
ATP-binding cassette sub-family G member 5 (Humans)protein
primary
Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
TocofersolanapprovednotransportersubstrateDetails
Tauroursodeoxycholic acidapproved, investigationalunknowntransporterdownregulatorDetails