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Q9H221

- ABCG8_HUMAN

UniProt

Q9H221 - ABCG8_HUMAN

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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

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 heterodimerization activity Source: BHF-UCL
  4. 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 416416CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei417 – 43721Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini438 – 44710ExtracellularSequence Analysis
Transmembranei448 – 46821Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini469 – 49224CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei493 – 51321Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini514 – 53118ExtracellularSequence AnalysisAdd
BLAST
Transmembranei532 – 55221Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini553 – 56917CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei570 – 59021Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini591 – 63949ExtracellularSequence AnalysisAdd
BLAST
Transmembranei640 – 66021Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini661 – 67313CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ9H221.
CleanExiHS_ABCG8.
ExpressionAtlasiQ9H221. baseline and differential.
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...

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.
GeneTreeiENSGT00740000114855.
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

        10         20         30         40         50
MAGKAAEERG LPKGATPQDT SGLQDRLFSS ESDNSLYFTY SGQPNTLEVR
60 70 80 90 100
DLNYQVDLAS QVPWFEQLAQ FKMPWTSPSC QNSCELGIQN LSFKVRSGQM
110 120 130 140 150
LAIIGSSGCG RASLLDVITG RGHGGKIKSG QIWINGQPSS PQLVRKCVAH
160 170 180 190 200
VRQHNQLLPN LTVRETLAFI AQMRLPRTFS QAQRDKRVED VIAELRLRQC
210 220 230 240 250
ADTRVGNMYV RGLSGGERRR VSIGVQLLWN PGILILDEPT SGLDSFTAHN
260 270 280 290 300
LVKTLSRLAK GNRLVLISLH QPRSDIFRLF DLVLLMTSGT PIYLGAAQHM
310 320 330 340 350
VQYFTAIGYP CPRYSNPADF YVDLTSIDRR SREQELATRE KAQSLAALFL
360 370 380 390 400
EKVRDLDDFL WKAETKDLDE DTCVESSVTP LDTNCLPSPT KMPGAVQQFT
410 420 430 440 450
TLIRRQISND FRDLPTLLIH GAEACLMSMT IGFLYFGHGS IQLSFMDTAA
460 470 480 490 500
LLFMIGALIP FNVILDVISK CYSERAMLYY ELEDGLYTTG PYFFAKILGE
510 520 530 540 550
LPEHCAYIII YGMPTYWLAN LRPGLQPFLL HFLLVWLVVF CCRIMALAAA
560 570 580 590 600
ALLPTFHMAS FFSNALYNSF YLAGGFMINL SSLWTVPAWI SKVSFLRWCF
610 620 630 640 650
EGLMKIQFSR RTYKMPLGNL TIAVSGDKIL SVMELDSYPL YAIYLIVIGL
660 670
SGGFMVLYYV SLRFIKQKPS QDW
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 GC02P044066.
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.
GeneTreei ENSGT00740000114855.
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

Bgeei Q9H221.
CleanExi HS_ABCG8.
ExpressionAtlasi Q9H221. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 131 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