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Q9H221

- ABCG8_HUMAN

UniProt

Q9H221 - ABCG8_HUMAN

Protein

ATP-binding cassette sub-family G member 8

Gene

ABCG8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. ATPase activity Source: InterPro
    2. ATP binding Source: InterPro
    3. protein binding Source: IntAct
    4. protein heterodimerization activity Source: BHF-UCL
    5. sterol transporter activity Source: Ensembl

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. cholesterol efflux Source: BHF-UCL
    3. cholesterol homeostasis Source: BHF-UCL
    4. excretion Source: BHF-UCL
    5. intestinal cholesterol absorption Source: BHF-UCL
    6. negative regulation of intestinal cholesterol absorption Source: BHF-UCL
    7. negative regulation of intestinal phytosterol absorption Source: BHF-UCL
    8. phospholipid transport Source: Ensembl
    9. response to drug Source: Ensembl
    10. response to nutrient Source: Ensembl
    11. small molecule metabolic process Source: Reactome
    12. sterol transport Source: Reactome
    13. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.
    REACT_13781. Trafficking of dietary sterols.

    Protein family/group databases

    TCDBi3.A.1.204.5. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family G member 8
    Alternative name(s):
    Sterolin-2
    Gene namesi
    Name:ABCG8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:13887. ABCG8.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: BHF-UCL
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Gallbladder disease 4 (GBD4) [MIM:611465]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes.
    Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191D → H Associated significantly with GBD4. 3 Publications
    Corresponds to variant rs11887534 [ dbSNP | Ensembl ].
    VAR_012250
    Sitosterolemia (STSL) [MIM:210250]: Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti184 – 1841R → H in STSL. 1 Publication
    VAR_012252
    Natural varianti231 – 2311P → T in STSL. 2 Publications
    VAR_012253
    Natural varianti263 – 2631R → Q in STSL. 2 Publications
    Corresponds to variant rs137852990 [ dbSNP | Ensembl ].
    VAR_012256
    Natural varianti405 – 4051R → H in STSL. 1 Publication
    VAR_012258
    Natural varianti501 – 5011L → P in STSL. 1 Publication
    VAR_012259
    Natural varianti543 – 5431R → S in STSL. 1 Publication
    Corresponds to variant rs201690654 [ dbSNP | Ensembl ].
    VAR_012260
    Natural varianti570 – 5701Missing in STSL. 1 Publication
    VAR_012261
    Natural varianti572 – 5721L → P in STSL. 1 Publication
    VAR_012262
    Natural varianti574 – 5741G → E in STSL. 1 Publication
    VAR_012263
    Natural varianti574 – 5741G → R in STSL. 2 Publications
    VAR_012264
    Natural varianti596 – 5961L → R in STSL. 2 Publications
    VAR_012266

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi210250. phenotype.
    611465. phenotype.
    Orphaneti2882. Sitosterolemia.
    PharmGKBiPA24412.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 673673ATP-binding cassette sub-family G member 8PRO_0000093396Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi619 – 6191N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9H221.
    PRIDEiQ9H221.

    PTM databases

    PhosphoSiteiQ9H221.

    Expressioni

    Tissue specificityi

    Strongly expressed in the liver, lower levels in the small intestine and colon. Detectable in a wide variety of human tissues.

    Gene expression databases

    ArrayExpressiQ9H221.
    BgeeiQ9H221.
    CleanExiHS_ABCG8.
    GenevestigatoriQ9H221.

    Organism-specific databases

    HPAiHPA019556.

    Interactioni

    Subunit structurei

    May form heterodimers with ABCG5 or be tightly coupled to ABCG5 along a pathway regulating diatery-sterol absorption and excretion.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ABCG5Q9H2222EBI-3908684,EBI-1761423

    Protein-protein interaction databases

    BioGridi122125. 8 interactions.
    IntActiQ9H221. 8 interactions.
    MINTiMINT-2840535.
    STRINGi9606.ENSP00000272286.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H221.
    SMRiQ9H221. Positions 44-322.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 416416CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini438 – 44710ExtracellularSequence Analysis
    Topological domaini469 – 49224CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini514 – 53118ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini553 – 56917CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini591 – 63949ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini661 – 67313CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei417 – 43721Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei448 – 46821Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei493 – 51321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei532 – 55221Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei570 – 59021Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei640 – 66021Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini47 – 313267ABC transporterPROSITE-ProRule annotationAdd
    BLAST
    Domaini411 – 665255ABC transmembrane type-2Add
    BLAST

    Sequence similaritiesi

    Contains 1 ABC transporter domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1131.
    HOGENOMiHOG000033764.
    HOVERGENiHBG050444.
    InParanoidiQ9H221.
    KOiK05684.
    OMAiCFEGLMK.
    OrthoDBiEOG70W3CV.
    PhylomeDBiQ9H221.
    TreeFamiTF105212.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR013525. ABC_2_trans.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF01061. ABC2_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H221-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGKAAEERG LPKGATPQDT SGLQDRLFSS ESDNSLYFTY SGQPNTLEVR    50
    DLNYQVDLAS QVPWFEQLAQ FKMPWTSPSC QNSCELGIQN LSFKVRSGQM 100
    LAIIGSSGCG RASLLDVITG RGHGGKIKSG QIWINGQPSS PQLVRKCVAH 150
    VRQHNQLLPN LTVRETLAFI AQMRLPRTFS QAQRDKRVED VIAELRLRQC 200
    ADTRVGNMYV RGLSGGERRR VSIGVQLLWN PGILILDEPT SGLDSFTAHN 250
    LVKTLSRLAK GNRLVLISLH QPRSDIFRLF DLVLLMTSGT PIYLGAAQHM 300
    VQYFTAIGYP CPRYSNPADF YVDLTSIDRR SREQELATRE KAQSLAALFL 350
    EKVRDLDDFL WKAETKDLDE DTCVESSVTP LDTNCLPSPT KMPGAVQQFT 400
    TLIRRQISND FRDLPTLLIH GAEACLMSMT IGFLYFGHGS IQLSFMDTAA 450
    LLFMIGALIP FNVILDVISK CYSERAMLYY ELEDGLYTTG PYFFAKILGE 500
    LPEHCAYIII YGMPTYWLAN LRPGLQPFLL HFLLVWLVVF CCRIMALAAA 550
    ALLPTFHMAS FFSNALYNSF YLAGGFMINL SSLWTVPAWI SKVSFLRWCF 600
    EGLMKIQFSR RTYKMPLGNL TIAVSGDKIL SVMELDSYPL YAIYLIVIGL 650
    SGGFMVLYYV SLRFIKQKPS QDW 673
    Length:673
    Mass (Da):75,679
    Last modified:March 1, 2001 - v1
    Checksum:i594AFD1D6C1BB50F
    GO
    Isoform 2 (identifier: Q9H221-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         376-376: Missing.

    Note: Minor form detected in approximately 10% of the cDNA clones.

    Show »
    Length:672
    Mass (Da):75,592
    Checksum:iA7F428ED11B104DE
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191D → H Associated significantly with GBD4. 3 Publications
    Corresponds to variant rs11887534 [ dbSNP | Ensembl ].
    VAR_012250
    Natural varianti54 – 541Y → C.4 Publications
    Corresponds to variant rs4148211 [ dbSNP | Ensembl ].
    VAR_012251
    Natural varianti184 – 1841R → H in STSL. 1 Publication
    VAR_012252
    Natural varianti210 – 2101V → M.
    Corresponds to variant rs9282574 [ dbSNP | Ensembl ].
    VAR_022074
    Natural varianti231 – 2311P → T in STSL. 2 Publications
    VAR_012253
    Natural varianti238 – 2381E → K.1 Publication
    Corresponds to variant rs34754243 [ dbSNP | Ensembl ].
    VAR_012254
    Natural varianti259 – 2591A → V.1 Publication
    Corresponds to variant rs35518570 [ dbSNP | Ensembl ].
    VAR_012255
    Natural varianti263 – 2631R → Q in STSL. 2 Publications
    Corresponds to variant rs137852990 [ dbSNP | Ensembl ].
    VAR_012256
    Natural varianti400 – 4001T → K.3 Publications
    Corresponds to variant rs4148217 [ dbSNP | Ensembl ].
    VAR_012257
    Natural varianti405 – 4051R → H in STSL. 1 Publication
    VAR_012258
    Natural varianti501 – 5011L → P in STSL. 1 Publication
    VAR_012259
    Natural varianti543 – 5431R → S in STSL. 1 Publication
    Corresponds to variant rs201690654 [ dbSNP | Ensembl ].
    VAR_012260
    Natural varianti570 – 5701Missing in STSL. 1 Publication
    VAR_012261
    Natural varianti572 – 5721L → P in STSL. 1 Publication
    VAR_012262
    Natural varianti574 – 5741G → E in STSL. 1 Publication
    VAR_012263
    Natural varianti574 – 5741G → R in STSL. 2 Publications
    VAR_012264
    Natural varianti575 – 5751G → R.1 Publication
    Corresponds to variant rs36209700 [ dbSNP | Ensembl ].
    VAR_012265
    Natural varianti596 – 5961L → R in STSL. 2 Publications
    VAR_012266
    Natural varianti632 – 6321V → A.2 Publications
    Corresponds to variant rs6544718 [ dbSNP | Ensembl ].
    VAR_012267
    Natural varianti641 – 6411Y → F.1 Publication
    VAR_020785
    Natural varianti655 – 6551M → V.
    Corresponds to variant rs9282573 [ dbSNP | Ensembl ].
    VAR_022075

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei376 – 3761Missing in isoform 2. 1 PublicationVSP_000052

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF320294 mRNA. Translation: AAG40004.1.
    AF324494 mRNA. Translation: AAK84078.1.
    AF351824
    , AF351812, AF351813, AF351814, AF351815, AF351816, AF351817, AF351818, AF351819, AF351820, AF351821, AF351822, AF351823 Genomic DNA. Translation: AAK84663.1.
    AC108476 Genomic DNA. Translation: AAY24011.1.
    CCDSiCCDS1815.1. [Q9H221-1]
    RefSeqiNP_071882.1. NM_022437.2. [Q9H221-1]
    XP_005264540.1. XM_005264483.1. [Q9H221-2]
    UniGeneiHs.413931.

    Genome annotation databases

    EnsembliENST00000272286; ENSP00000272286; ENSG00000143921. [Q9H221-1]
    GeneIDi64241.
    KEGGihsa:64241.
    UCSCiuc002rtq.3. human. [Q9H221-1]
    uc010yoa.2. human. [Q9H221-2]

    Polymorphism databases

    DMDMi17432916.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF320294 mRNA. Translation: AAG40004.1 .
    AF324494 mRNA. Translation: AAK84078.1 .
    AF351824
    , AF351812 , AF351813 , AF351814 , AF351815 , AF351816 , AF351817 , AF351818 , AF351819 , AF351820 , AF351821 , AF351822 , AF351823 Genomic DNA. Translation: AAK84663.1 .
    AC108476 Genomic DNA. Translation: AAY24011.1 .
    CCDSi CCDS1815.1. [Q9H221-1 ]
    RefSeqi NP_071882.1. NM_022437.2. [Q9H221-1 ]
    XP_005264540.1. XM_005264483.1. [Q9H221-2 ]
    UniGenei Hs.413931.

    3D structure databases

    ProteinModelPortali Q9H221.
    SMRi Q9H221. Positions 44-322.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122125. 8 interactions.
    IntActi Q9H221. 8 interactions.
    MINTi MINT-2840535.
    STRINGi 9606.ENSP00000272286.

    Chemistry

    DrugBanki DB00973. Ezetimibe.

    Protein family/group databases

    TCDBi 3.A.1.204.5. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q9H221.

    Polymorphism databases

    DMDMi 17432916.

    Proteomic databases

    PaxDbi Q9H221.
    PRIDEi Q9H221.

    Protocols and materials databases

    DNASUi 64241.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000272286 ; ENSP00000272286 ; ENSG00000143921 . [Q9H221-1 ]
    GeneIDi 64241.
    KEGGi hsa:64241.
    UCSCi uc002rtq.3. human. [Q9H221-1 ]
    uc010yoa.2. human. [Q9H221-2 ]

    Organism-specific databases

    CTDi 64241.
    GeneCardsi GC02P043977.
    GeneReviewsi ABCG8.
    HGNCi HGNC:13887. ABCG8.
    HPAi HPA019556.
    MIMi 210250. phenotype.
    605460. gene.
    611465. phenotype.
    neXtProti NX_Q9H221.
    Orphaneti 2882. Sitosterolemia.
    PharmGKBi PA24412.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1131.
    HOGENOMi HOG000033764.
    HOVERGENi HBG050444.
    InParanoidi Q9H221.
    KOi K05684.
    OMAi CFEGLMK.
    OrthoDBi EOG70W3CV.
    PhylomeDBi Q9H221.
    TreeFami TF105212.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.
    REACT_13781. Trafficking of dietary sterols.

    Miscellaneous databases

    GeneWikii ABCG8.
    GenomeRNAii 64241.
    NextBioi 66192.
    PROi Q9H221.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H221.
    Bgeei Q9H221.
    CleanExi HS_ABCG8.
    Genevestigatori Q9H221.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR013525. ABC_2_trans.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF01061. ABC2_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters."
      Berge K.E., Tian H., Graf G.A., Yu L., Grishin N.V., Schultz J., Kwiterovich P., Shan B., Barnes R., Hobbs H.H.
      Science 290:1771-1775(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS STSL THR-231; GLN-263; ARG-574 AND ARG-596, VARIANT CYS-54.
    2. "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."
      Lu K., Lee M.-H., Hazard S., Brooks-Wilson A., Hidaka H., Kojima H., Ose L., Stalenhoef A.F.H., Mietinnen T., Bjorkhem I., Bruckert E., Pandya A., Brewer H.B. Jr., Salen G., Dean M., Srivastava A.K., Patel S.B.
      Am. J. Hum. Genet. 69:278-290(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANTS STSL HIS-184; THR-231; GLN-263; HIS-405; PRO-501; SER-543; PHE-570 DEL; PRO-572; ARG-574; GLU-574 AND ARG-596, VARIANTS HIS-19; CYS-54; LYS-238; VAL-259; LYS-400; ARG-575 AND ALA-632.
      Tissue: Liver.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., 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 E.A., 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 S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Role of ABCG1 and other ABCG family members in lipid metabolism."
      Schmitz G., Langmann T., Heimerl S.
      J. Lipid Res. 42:1513-1520(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    5. "Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia."
      Hubacek J.A., Berge K.E., Cohen J.C., Hobbs H.H.
      Hum. Mutat. 18:359-360(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HIS-19; CYS-54; LYS-400; ALA-632 AND PHE-641.
    6. "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."
      Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K., Harigae S., Osawa S., Nakamura Y.
      J. Hum. Genet. 47:285-310(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CYS-54 AND LYS-400.
    7. Cited for: VARIANT HIS-19, ASSOCIATION WITH GBD4.

    Entry informationi

    Entry nameiABCG8_HUMAN
    AccessioniPrimary (citable) accession number: Q9H221
    Secondary accession number(s): Q53QN8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 5, 2001
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 130 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3