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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.


RefSeq Accession Definition Services Price Order
NM_022436 Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA. ORF Sequence $567.24
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_022436.2, 14141174
Length 2740 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.
Product ATP-binding cassette sub-family G member 5
Comment

Summary: 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. [provided by RefSeq, Jul 2008].

RefSeq NP_071881.1
CDS 141..2096
Misc Feature(1)78..80
Misc Feature(2)288..965
Misc Feature(3)288..965
Misc Feature(4)318..2075
Misc Feature(5)396..419
Misc Feature(6)order(405..410,414..422,540..542,789..794,888..890)
Misc Feature(7)531..542
Misc Feature(8)717..746
Misc Feature(9)777..794
Misc Feature(10)801..812
Misc Feature(11)876..896
Misc Feature(12)1290..1352
Misc Feature(13)1296..1880
Misc Feature(14)1404..1466
Misc Feature(15)1527..1589
Misc Feature(16)1650..1712
Misc Feature(17)1725..1787
Misc Feature(18)2010..2072
Exon (1)1..283
Gene:ABCG5
Gene Synonym:STSL
Exon (2)284..405
Gene:ABCG5
Gene Synonym:STSL
Exon (3)406..542
Gene:ABCG5
Gene Synonym:STSL
Exon (4)543..641
Gene:ABCG5
Gene Synonym:STSL
Exon (5)642..774
Gene:ABCG5
Gene Synonym:STSL
Exon (6)775..914
Gene:ABCG5
Gene Synonym:STSL
Exon (7)915..1044
Gene:ABCG5
Gene Synonym:STSL
Exon (8)1045..1258
Gene:ABCG5
Gene Synonym:STSL
Exon (9)1259..1464
Gene:ABCG5
Gene Synonym:STSL
Exon (10)1465..1603
Gene:ABCG5
Gene Synonym:STSL
Exon (11)1604..1789
Gene:ABCG5
Gene Synonym:STSL
Exon (12)1790..1902
Gene:ABCG5
Gene Synonym:STSL
Exon (13)1903..2740
Gene:ABCG5
Gene Synonym:STSL
Translation MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR
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Position Chain Variation Link
complement(10)-dbSNP:
complement(10)-g, adbSNP:115642007
complement(23)-t, gdbSNP:55853083
complement(35)-t, cdbSNP:189132480
complement(110)-t, cdbSNP:56289199
complement(167)-g, adbSNP:72542428
complement(173)-c, adbSNP:200471843
complement(190)-c, adbSNP:72542427
complement(218)-c, adbSNP:144622073
complement(220)-g, cdbSNP:56204478
complement(231)-t, gdbSNP:187767254
complement(239)-t, cdbSNP:149907931
complement(247)-t, gdbSNP:201992386
complement(279)-c, adbSNP:72542426
complement(288)-dbSNP:
complement(288)-g, c, adbSNP:6756629
complement(289)-t, cdbSNP:200036521
complement(309)-t, cdbSNP:144206840
complement(322)-t, cdbSNP:149599171
complement(369)-t, gdbSNP:119480070
complement(375)-t, cdbSNP:142125966
complement(433)-dbSNP:
complement(433)-g, cdbSNP:145164937
complement(465)-g, adbSNP:201889290
complement(548)-dbSNP:
complement(548)-g, adbSNP:141386201
complement(582)-g, adbSNP:143444046
complement(649)-dbSNP:
complement(649)-t, gdbSNP:145505499
complement(650)-g, adbSNP:147061424
complement(687)-g, adbSNP:145300824
complement(701)-g, adbSNP:200727789
complement(704)-g, adbSNP:201251821
complement(706)-g, cdbSNP:201572746
complement(733)-t, cdbSNP:141828689
complement(761)-t, cdbSNP:146336941
complement(778)-dbSNP:
complement(778)-g, adbSNP:111535772
complement(808)-g, adbSNP:186904986
complement(834)-t, cdbSNP:141997221
complement(836)-g, adbSNP:72796720
complement(867)-t, cdbSNP:119479066
complement(891)-g, adbSNP:140111105
complement(898)-t, cdbSNP:148186696
complement(901)-g, cdbSNP:142019608
complement(921)-dbSNP:
complement(921)-t, cdbSNP:186138834
complement(925)-t, c, adbSNP:78070897
complement(933)-t, gdbSNP:190380979
complement(935)-g, adbSNP:112926649
complement(993)-t, cdbSNP:200772212
complement(999)-g, adbSNP:141033260
complement(1002)-t, cdbSNP:139264483
complement(1054)-dbSNP:
complement(1054)-g, adbSNP:143740796
complement(1080)-g, adbSNP:142971825
complement(1097)-g, adbSNP:146131711
complement(1120)-g, adbSNP:201302611
complement(1189)-g, adbSNP:148131742
complement(1303)-dbSNP:
complement(1303)-g, adbSNP:149418765
complement(1304)-t, cdbSNP:145755348
complement(1306)-g, adbSNP:119480069
complement(1311)-g, adbSNP:148997255
complement(1319)-g, adbSNP:144893516
complement(1350)-t, cdbSNP:200396635
complement(1358)-t, cdbSNP:146992652
complement(1362)-t, cdbSNP:119479065
complement(1363)-t, cdbSNP:143680435
complement(1368)-t, gdbSNP:115590670
complement(1391)-t, cdbSNP:146801512
complement(1396)-g, c, adbSNP:119479067
complement(1424)-g, adbSNP:143972075
complement(1452)-t, cdbSNP:201552973
complement(1460)-t, adbSNP:150002815
complement(1466)-dbSNP:
complement(1466)-g, adbSNP:200597050
complement(1469)-g, adbSNP:201620171
complement(1476)-g, adbSNP:199689137
complement(1480)-g, adbSNP:200373089
complement(1487)-g, adbSNP:139361486
complement(1505)-g, adbSNP:141016088
complement(1506)-t, cdbSNP:200378113
complement(1551)-t, cdbSNP:143402711
complement(1565)-g, adbSNP:201506122
complement(1572)-g, adbSNP:4076029
complement(1576)-g, adbSNP:143508969
complement(1644)-dbSNP:
complement(1644)-g, adbSNP:79482684
complement(1668)-t, gdbSNP:199984328
complement(1690)-g, cdbSNP:17031672
complement(1707)-t, cdbSNP:140899003
complement(1710)-t, cdbSNP:200839584
complement(1758)-c, adbSNP:189943456
complement(1760)-t, cdbSNP:145527220
complement(1761)-t, cdbSNP:142109022
complement(1765)-g, adbSNP:191898631
complement(1768)-g, adbSNP:199862542
complement(1873)-dbSNP:
complement(1873)-t, cdbSNP:146534033
complement(1883)-g, adbSNP:149027497
complement(1884)-t, cdbSNP:144973796
complement(1898)-g, adbSNP:141053836
complement(1911)-dbSNP:
complement(1911)-t, cdbSNP:201902491
complement(1926)-t, cdbSNP:144063868
complement(1946)-g, adbSNP:150716811
complement(1950)-g, cdbSNP:6720173
complement(1965)-t, cdbSNP:199967611
complement(1992)-g, adbSNP:137996263
complement(2004)-t, cdbSNP:140374206
complement(2010)-g, adbSNP:150401285
complement(2023)-t, cdbSNP:201698182
complement(2043)-c, adbSNP:184878933
complement(2059)-g, adbSNP:192910356
complement(2083)-c, adbSNP:140511481
complement(2168)-t, cdbSNP:77265083
complement(2184)-g, adbSNP:138271021
complement(2315)-, adbSNP:139045335
complement(2315)-, adbSNP:144452054
complement(2381)-g, cdbSNP:114868704
complement(2387)-g, cdbSNP:188558738
complement(2396..2397)-, adbSNP:140489975
complement(2476)-t, gdbSNP:2278356
complement(2487)-g, adbSNP:183455219
complement(2495)-g, adbSNP:79475203
complement(2512)-g, adbSNP:2278357
complement(2530)-t, adbSNP:144382410
complement(2610)-t, cdbSNP:111650889
complement(2614)-t, cdbSNP:146758782
complement(2618)-t, cdbSNP:77105521
complement(2631)-g, adbSNP:77638440
complement(2636)-g, adbSNP:192476318
complement(2637)-t, cdbSNP:140623620
complement(2688)-t, cdbSNP:151005348
complement(2717)-g, adbSNP:144987434
complement(2718)-t, cdbSNP:4148195
Gene SymbolABCG5
Gene SynonymSTSL
Chromosome2
Locus Map2p21
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_022436 Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA. Full Length $794.60
ORF Sequence $567.24
Title ATP-binding cassette sterol transporters are differentially expressed in normal and diseased human gallbladder .
Author Yoon,J.H., Choi,H.S., Jun,D.W., Yoo,K.S., Lee,J., Yang,S.Y. and Kuver,R.
Journal Dig. Dis. Sci. 58 (2), 431-439 (2013)
Title ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels .
Author Li,Q., Yin,R.X., Wei,X.L., Yan,T.T., Aung,L.H., Wu,D.F., Wu,J.Z., Lin,W.X., Liu,C.W. and Pan,S.L.
Journal PLoS ONE 7 (5), E37972 (2012)
Title Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease .
Author Peloso,G.M., Demissie,S., Collins,D., Mirel,D.B., Gabriel,S.B., Cupples,L.A., Robins,S.J., Schaefer,E.J. and Brousseau,M.E.
Journal J. Lipid Res. 51 (12), 3524-3532 (2010)
Title Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients .
Author Hu,M., Lui,S.S., Mak,V.W., Chu,T.T., Lee,V.W., Poon,E.W., Tsui,T.K., Ko,G.T., Baum,L., Tam,L.S., Li,E.K. and Tomlinson,B.
Journal Pharmacogenet. Genomics 20 (10), 634-637 (2010)
Title Biological, clinical and population relevance of 95 loci for blood lipids .
Author Teslovich,T.M., Musunuru,K., Smith,A.V., Edmondson,A.C., Stylianou,I.M., Koseki,M., Pirruccello,J.P., Ripatti,S., Chasman,D.I., Willer,C.J., Johansen,C.T., Fouchier,S.W., Isaacs,A., Peloso,G.M., Barbalic,M., Ricketts,S.L., Bis,J.C., Aulchenko,Y.S., Thorleifsson,G., Feitosa,M.F., Chambers,J., Orho-Melander,M., Melander,O., Johnson,T., Li,X., Guo,X., Li,M., Shin Cho,Y., Jin Go,M., Jin Kim,Y., Lee,J.Y., Park,T., Kim,K., Sim,X., Twee-Hee Ong,R., Croteau-Chonka,D.C., Lange,L.A., Smith,J.D., Song,K., Hua Zhao,J., Yuan,X., Luan,J., Lamina,C., Ziegler,A., Zhang,W., Zee,R.Y., Wright,A.F., Witteman,J.C., Wilson,J.F., Willemsen,G., Wichmann,H.E., Whitfield,J.B., Waterworth,D.M., Wareham,N.J., Waeber,G., Vollenweider,P., Voight,B.F., Vitart,V., Uitterlinden,A.G., Uda,M., Tuomilehto,J., Thompson,J.R., Tanaka,T., Surakka,I., Stringham,H.M., Spector,T.D., Soranzo,N., Smit,J.H., Sinisalo,J., Silander,K., Sijbrands,E.J., Scuteri,A., Scott,J., Schlessinger,D., Sanna,S., Salomaa,V., Saharinen,J., Sabatti,C., Ruokonen,A., Rudan,I., Rose,L.M., Roberts,R., Rieder,M., Psaty,B.M., Pramstaller,P.P., Pichler,I., Perola,M., Penninx,B.W., Pedersen,N.L., Pattaro,C., Parker,A.N., Pare,G., Oostra,B.A., O'Donnell,C.J., Nieminen,M.S., Nickerson,D.A., Montgomery,G.W., Meitinger,T., McPherson,R., McCarthy,M.I., McArdle,W., Masson,D., Martin,N.G., Marroni,F., Mangino,M., Magnusson,P.K., Lucas,G., Luben,R., Loos,R.J., Lokki,M.L., Lettre,G., Langenberg,C., Launer,L.J., Lakatta,E.G., Laaksonen,R., Kyvik,K.O., Kronenberg,F., Konig,I.R., Khaw,K.T., Kaprio,J., Kaplan,L.M., Johansson,A., Jarvelin,M.R., Janssens,A.C., Ingelsson,E., Igl,W., Kees Hovingh,G., Hottenga,J.J., Hofman,A., Hicks,A.A., Hengstenberg,C., Heid,I.M., Hayward,C., Havulinna,A.S., Hastie,N.D., Harris,T.B., Haritunians,T., Hall,A.S., Gyllensten,U., Guiducci,C., Groop,L.C., Gonzalez,E., Gieger,C., Freimer,N.B., Ferrucci,L., Erdmann,J., Elliott,P., Ejebe,K.G., Doring,A., Dominiczak,A.F., Demissie,S., Deloukas,P., de Geus,E.J., de Faire,U., Crawford,G., Collins,F.S., Chen,Y.D., Caulfield,M.J., Campbell,H., Burtt,N.P., Bonnycastle,L.L., Boomsma,D.I., Boekholdt,S.M., Bergman,R.N., Barroso,I., Bandinelli,S., Ballantyne,C.M., Assimes,T.L., Quertermous,T., Altshuler,D., Seielstad,M., Wong,T.Y., Tai,E.S., Feranil,A.B., Kuzawa,C.W., Adair,L.S., Taylor,H.A. Jr., Borecki,I.B., Gabriel,S.B., Wilson,J.G., Holm,H., Thorsteinsdottir,U., Gudnason,V., Krauss,R.M., Mohlke,K.L., Ordovas,J.M., Munroe,P.B., Kooner,J.S., Tall,A.R., Hegele,R.A., Kastelein,J.J., Schadt,E.E., Rotter,J.I., Boerwinkle,E., Strachan,D.P., Mooser,V., Stefansson,K., Reilly,M.P., Samani,N.J., Schunkert,H., Cupples,L.A., Sandhu,M.S., Ridker,P.M., Rader,D.J., van Duijn,C.M., Peltonen,L., Abecasis,G.R., Boehnke,M. and Kathiresan,S.
Journal Nature 466 (7307), 707-713 (2010)
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 .
Author Lu,K., Lee,M.H., Hazard,S., Brooks-Wilson,A., Hidaka,H., Kojima,H., Ose,L., Stalenhoef,A.F., Mietinnen,T., Bjorkhem,I., Bruckert,E., Pandya,A., Brewer,H.B. Jr., Salen,G., Dean,M., Srivastava,A. and Patel,S.B.
Journal Am. J. Hum. Genet. 69 (2), 278-290 (2001)
Title Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption .
Author Lee,M.H., Lu,K., Hazard,S., Yu,H., Shulenin,S., Hidaka,H., Kojima,H., Allikmets,R., Sakuma,N., Pegoraro,R., Srivastava,A.K., Salen,G., Dean,M. and Patel,S.B.
Journal Nat. Genet. 27 (1), 79-83 (2001)
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 .
Author Shulenin,S., Schriml,L.M., Remaley,A.T., Fojo,S., Brewer,B., Allikmets,R. and Dean,M.
Journal Cytogenet. Cell Genet. 92 (3-4), 204-208 (2001)
Title Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters .
Author Berge,K.E., Tian,H., Graf,G.A., Yu,L., Grishin,N.V., Schultz,J., Kwiterovich,P., Shan,B., Barnes,R. and Hobbs,H.H.
Journal Science 290 (5497), 1771-1775 (2000)
Title Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21 .
Author Patel,S.B., Salen,G., Hidaka,H., Kwiterovich,P.O., Stalenhoef,A.F., Miettinen,T.A., Grundy,S.M., Lee,M.H., Rubenstein,J.S., Polymeropoulos,M.H. and Brownstein,M.J.
Journal J. Clin. Invest. 102 (5), 1041-1044 (1998)

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