UniProtKB - Q9H221 (ABCG8_HUMAN)
ATP-binding cassette sub-family G member 8
ABCG8
Functioni
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg2+- and ATP-dependent sterol transport across the cell membrane. Plays an essential 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 (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092).
Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092).
The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).
5 PublicationsCaution
Catalytic activityi
- This reaction proceeds in the forwardBy similarity direction.
- This reaction proceeds in the forwardBy similarity direction.
Cofactori
Activity regulationi
GO - Molecular functioni
- ABC-type transporter activity Source: InterPro
- ATPase-coupled transmembrane transporter activity Source: UniProtKB
- ATP binding Source: InterPro
- cholesterol transfer activity Source: Ensembl
- metal ion binding Source: UniProtKB-KW
- protein heterodimerization activity Source: BHF-UCL
GO - Biological processi
- bile acid signaling pathway Source: Ensembl
- cholesterol efflux Source: UniProtKB
- cholesterol homeostasis Source: UniProtKB
- intestinal cholesterol absorption Source: BHF-UCL
- negative regulation of intestinal cholesterol absorption Source: BHF-UCL
- negative regulation of intestinal phytosterol absorption Source: BHF-UCL
- phospholipid transport Source: Ensembl
- response to muscle activity Source: Ensembl
- response to nutrient Source: Ensembl
- response to xenobiotic stimulus Source: Ensembl
- sterol transport Source: UniProtKB
- triglyceride homeostasis Source: Ensembl
Keywordsi
Molecular function | Translocase |
Biological process | Lipid transport, Transport |
Ligand | Magnesium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9H221 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-5679090, Defective ABCG8 causes GBD4 and sitosterolemia R-HSA-5679096, Defective ABCG5 causes sitosterolemia R-HSA-9029569, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux |
SignaLinki | Q9H221 |
SIGNORi | Q9H221 |
Protein family/group databases
TCDBi | 3.A.1.204.5, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-binding cassette sub-family G member 8Curated (EC:7.6.2.-By similarity)Alternative name(s): Sterolin-21 Publication |
Gene namesi | Name:ABCG8Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13887, ABCG8 |
MIMi | 605460, gene |
neXtProti | NX_Q9H221 |
VEuPathDBi | HostDB:ENSG00000143921 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
- Apical cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
Plasma Membrane
- apical plasma membrane Source: BHF-UCL
- ATP-binding cassette (ABC) transporter complex Source: UniProtKB
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: GO_Central
Other locations
- receptor complex Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 416 | Cytoplasmic1 PublicationAdd BLAST | 416 | |
Transmembranei | 417 – 437 | Helical; Name=11 PublicationAdd BLAST | 21 | |
Topological domaini | 438 – 447 | Extracellular1 Publication | 10 | |
Transmembranei | 448 – 468 | Helical; Name=21 PublicationAdd BLAST | 21 | |
Topological domaini | 469 – 497 | Cytoplasmic1 PublicationAdd BLAST | 29 | |
Transmembranei | 498 – 518 | Helical; Name=31 PublicationAdd BLAST | 21 | |
Topological domaini | 519 – 527 | Extracellular1 Publication | 9 | |
Transmembranei | 528 – 548 | Helical; Name=41 PublicationAdd BLAST | 21 | |
Topological domaini | 549 – 555 | Cytoplasmic1 Publication | 7 | |
Transmembranei | 556 – 576 | Helical; Name=51 PublicationAdd BLAST | 21 | |
Topological domaini | 577 – 639 | Extracellular1 PublicationAdd BLAST | 63 | |
Transmembranei | 640 – 660 | Helical; Name=61 PublicationAdd BLAST | 21 | |
Topological domaini | 661 – 673 | Cytoplasmic1 PublicationAdd BLAST | 13 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Gallbladder disease 4 (GBD4)1 Publication
Sitosterolemia 1 (STSL1)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012252 | 184 | R → H in STSL1; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs766212636EnsemblClinVar. | 1 | |
Natural variantiVAR_012253 | 231 | P → T in STSL1; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852993EnsemblClinVar. | 1 | |
Natural variantiVAR_012254 | 238 | E → K in STSL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34754243EnsemblClinVar. | 1 | |
Natural variantiVAR_012256 | 263 | R → Q in STSL1; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852990EnsemblClinVar. | 1 | |
Natural variantiVAR_012258 | 405 | R → H in STSL1. 1 PublicationCorresponds to variant dbSNP:rs1177309800Ensembl. | 1 | |
Natural variantiVAR_012259 | 501 | L → P in STSL1; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs1233989408Ensembl. | 1 | |
Natural variantiVAR_012260 | 543 | R → S in STSL1; decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs201690654EnsemblClinVar. | 1 | |
Natural variantiVAR_012261 | 570 | Missing in STSL1. 1 Publication | 1 | |
Natural variantiVAR_012262 | 572 | L → P in STSL1. 1 PublicationCorresponds to variant dbSNP:rs769576789EnsemblClinVar. | 1 | |
Natural variantiVAR_012263 | 574 | G → E in STSL1; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs1325979386Ensembl. | 1 | |
Natural variantiVAR_012264 | 574 | G → R in STSL1; decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852988EnsemblClinVar. | 1 | |
Natural variantiVAR_012266 | 596 | L → R in STSL1; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852992EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 216 | G → D: Loss of ATPase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 64241 |
GeneReviewsi | ABCG8 |
MalaCardsi | ABCG8 |
MIMi | 210250, phenotype 611465, phenotype |
OpenTargetsi | ENSG00000143921 |
Orphaneti | 391665, Homozygous familial hypercholesterolemia 2882, Sitosterolemia |
PharmGKBi | PA24412 |
Miscellaneous databases
Pharosi | Q9H221, Tbio |
Chemistry databases
DrugBanki | DB11635, Tocofersolan |
Genetic variation databases
BioMutai | ABCG8 |
DMDMi | 17432916 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093396 | 1 – 673 | ATP-binding cassette sub-family G member 8Add BLAST | 673 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 619 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
GlycoproteinProteomic databases
MassIVEi | Q9H221 |
PaxDbi | Q9H221 |
PeptideAtlasi | Q9H221 |
PRIDEi | Q9H221 |
ProteomicsDBi | 80473 [Q9H221-1] 80474 [Q9H221-2] |
PTM databases
GlyGeni | Q9H221, 1 site |
iPTMneti | Q9H221 |
PhosphoSitePlusi | Q9H221 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000143921, Expressed in right lobe of liver and 42 other tissues |
ExpressionAtlasi | Q9H221, baseline and differential |
Genevisiblei | Q9H221, HS |
Organism-specific databases
HPAi | ENSG00000143921, Group enriched (intestine, liver) |
Interactioni
Subunit structurei
Heterodimer with ABCG8.
3 PublicationsBinary interactionsi
Q9H221
With | #Exp. | IntAct |
---|---|---|
ABCG5 [Q9H222] | 2 | EBI-3908684,EBI-1761423 |
MESD [Q14696] | 3 | EBI-3908684,EBI-6165891 |
Isoform 1 [Q9H221-1]
With | #Exp. | IntAct |
---|---|---|
ABCG5 - isoform 1 [Q9H222-1] | 5 | EBI-16205990,EBI-16205983 |
GO - Molecular functioni
- protein heterodimerization activity Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 122125, 16 interactors |
CORUMi | Q9H221 |
DIPi | DIP-42631N |
IntActi | Q9H221, 14 interactors |
MINTi | Q9H221 |
STRINGi | 9606.ENSP00000272286 |
Miscellaneous databases
RNActi | Q9H221, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9H221 |
SMRi | Q9H221 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 47 – 313 | ABC transporterPROSITE-ProRule annotationAdd BLAST | 267 | |
Domaini | 411 – 665 | ABC transmembrane type-2Add BLAST | 255 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 25 | DisorderedSequence analysisAdd BLAST | 25 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0061, Eukaryota |
GeneTreei | ENSGT00940000159739 |
HOGENOMi | CLU_000604_57_9_1 |
InParanoidi | Q9H221 |
OMAi | RDTDDHM |
OrthoDBi | 1022017at2759 |
PhylomeDBi | Q9H221 |
TreeFami | TF105212 |
Family and domain databases
Gene3Di | 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR013525, ABC_2_trans IPR003439, ABC_transporter-like_ATP-bd IPR017871, ABC_transporter-like_CS IPR043926, ABCG_dom IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF01061, ABC2_membrane, 1 hit PF19055, ABC2_membrane_7, 1 hit PF00005, ABC_tran, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y6M1 | A0A2R8Y6M1_HUMAN | ATP-binding cassette sub-family G m... | ABCG8 | 455 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012250 | 19 | D → H Associated significantly with GBD4. 3 PublicationsCorresponds to variant dbSNP:rs11887534EnsemblClinVar. | 1 | |
Natural variantiVAR_012251 | 54 | Y → C4 PublicationsCorresponds to variant dbSNP:rs4148211EnsemblClinVar. | 1 | |
Natural variantiVAR_012252 | 184 | R → H in STSL1; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs766212636EnsemblClinVar. | 1 | |
Natural variantiVAR_022074 | 210 | V → M. Corresponds to variant dbSNP:rs9282574EnsemblClinVar. | 1 | |
Natural variantiVAR_012253 | 231 | P → T in STSL1; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852993EnsemblClinVar. | 1 | |
Natural variantiVAR_012254 | 238 | E → K in STSL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34754243EnsemblClinVar. | 1 | |
Natural variantiVAR_012255 | 259 | A → V1 PublicationCorresponds to variant dbSNP:rs35518570Ensembl. | 1 | |
Natural variantiVAR_012256 | 263 | R → Q in STSL1; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852990EnsemblClinVar. | 1 | |
Natural variantiVAR_012257 | 400 | T → K3 PublicationsCorresponds to variant dbSNP:rs4148217EnsemblClinVar. | 1 | |
Natural variantiVAR_012258 | 405 | R → H in STSL1. 1 PublicationCorresponds to variant dbSNP:rs1177309800Ensembl. | 1 | |
Natural variantiVAR_012259 | 501 | L → P in STSL1; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs1233989408Ensembl. | 1 | |
Natural variantiVAR_012260 | 543 | R → S in STSL1; decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs201690654EnsemblClinVar. | 1 | |
Natural variantiVAR_012261 | 570 | Missing in STSL1. 1 Publication | 1 | |
Natural variantiVAR_012262 | 572 | L → P in STSL1. 1 PublicationCorresponds to variant dbSNP:rs769576789EnsemblClinVar. | 1 | |
Natural variantiVAR_012263 | 574 | G → E in STSL1; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs1325979386Ensembl. | 1 | |
Natural variantiVAR_012264 | 574 | G → R in STSL1; decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852988EnsemblClinVar. | 1 | |
Natural variantiVAR_012265 | 575 | G → R1 Publication | 1 | |
Natural variantiVAR_012266 | 596 | L → R in STSL1; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852992EnsemblClinVar. | 1 | |
Natural variantiVAR_012267 | 632 | V → A2 PublicationsCorresponds to variant dbSNP:rs6544718EnsemblClinVar. | 1 | |
Natural variantiVAR_020785 | 641 | Y → F1 PublicationCorresponds to variant dbSNP:rs145125968Ensembl. | 1 | |
Natural variantiVAR_022075 | 655 | M → V. Corresponds to variant dbSNP:rs9282573EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000052 | 376 | Missing in isoform 2. 1 Publication | 1 |
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_005264483.3 |
Genome annotation databases
Ensembli | ENST00000272286.4; ENSP00000272286.2; ENSG00000143921.9 |
GeneIDi | 64241 |
KEGGi | hsa:64241 |
MANE-Selecti | ENST00000272286.4; ENSP00000272286.2; NM_022437.3; NP_071882.1 |
UCSCi | uc002rtq.3, human [Q9H221-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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_005264483.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5DO7 | X-ray | 3.93 | B/D | 2-673 | [»] | |
7JR7 | electron microscopy | 3.30 | B | 1-673 | [»] | |
7R87 | electron microscopy | 3.40 | B | 1-673 | [»] | |
7R88 | electron microscopy | 3.50 | B | 1-673 | [»] | |
7R89 | electron microscopy | 2.60 | B | 1-673 | [»] | |
7R8A | electron microscopy | 2.90 | B | 1-673 | [»] | |
7R8B | electron microscopy | 3.10 | B | 1-673 | [»] | |
AlphaFoldDBi | Q9H221 | |||||
SMRi | Q9H221 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122125, 16 interactors |
CORUMi | Q9H221 |
DIPi | DIP-42631N |
IntActi | Q9H221, 14 interactors |
MINTi | Q9H221 |
STRINGi | 9606.ENSP00000272286 |
Chemistry databases
DrugBanki | DB11635, Tocofersolan |
Protein family/group databases
TCDBi | 3.A.1.204.5, the atp-binding cassette (abc) superfamily |
PTM databases
GlyGeni | Q9H221, 1 site |
iPTMneti | Q9H221 |
PhosphoSitePlusi | Q9H221 |
Genetic variation databases
BioMutai | ABCG8 |
DMDMi | 17432916 |
Proteomic databases
MassIVEi | Q9H221 |
PaxDbi | Q9H221 |
PeptideAtlasi | Q9H221 |
PRIDEi | Q9H221 |
ProteomicsDBi | 80473 [Q9H221-1] 80474 [Q9H221-2] |
Protocols and materials databases
Antibodypediai | 14910, 322 antibodies from 26 providers |
DNASUi | 64241 |
Genome annotation databases
Ensembli | ENST00000272286.4; ENSP00000272286.2; ENSG00000143921.9 |
GeneIDi | 64241 |
KEGGi | hsa:64241 |
MANE-Selecti | ENST00000272286.4; ENSP00000272286.2; NM_022437.3; NP_071882.1 |
UCSCi | uc002rtq.3, human [Q9H221-1] |
Organism-specific databases
CTDi | 64241 |
DisGeNETi | 64241 |
GeneCardsi | ABCG8 |
GeneReviewsi | ABCG8 |
HGNCi | HGNC:13887, ABCG8 |
HPAi | ENSG00000143921, Group enriched (intestine, liver) |
MalaCardsi | ABCG8 |
MIMi | 210250, phenotype 605460, gene 611465, phenotype |
neXtProti | NX_Q9H221 |
OpenTargetsi | ENSG00000143921 |
Orphaneti | 391665, Homozygous familial hypercholesterolemia 2882, Sitosterolemia |
PharmGKBi | PA24412 |
VEuPathDBi | HostDB:ENSG00000143921 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0061, Eukaryota |
GeneTreei | ENSGT00940000159739 |
HOGENOMi | CLU_000604_57_9_1 |
InParanoidi | Q9H221 |
OMAi | RDTDDHM |
OrthoDBi | 1022017at2759 |
PhylomeDBi | Q9H221 |
TreeFami | TF105212 |
Enzyme and pathway databases
PathwayCommonsi | Q9H221 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-5679090, Defective ABCG8 causes GBD4 and sitosterolemia R-HSA-5679096, Defective ABCG5 causes sitosterolemia R-HSA-9029569, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux |
SignaLinki | Q9H221 |
SIGNORi | Q9H221 |
Miscellaneous databases
BioGRID-ORCSi | 64241, 12 hits in 1059 CRISPR screens |
GeneWikii | ABCG8 |
GenomeRNAii | 64241 |
Pharosi | Q9H221, Tbio |
PROi | PR:Q9H221 |
RNActi | Q9H221, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143921, Expressed in right lobe of liver and 42 other tissues |
ExpressionAtlasi | Q9H221, baseline and differential |
Genevisiblei | Q9H221, HS |
Family and domain databases
Gene3Di | 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR013525, ABC_2_trans IPR003439, ABC_transporter-like_ATP-bd IPR017871, ABC_transporter-like_CS IPR043926, ABCG_dom IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF01061, ABC2_membrane, 1 hit PF19055, ABC2_membrane_7, 1 hit PF00005, ABC_tran, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCG8_HUMAN | |
Accessioni | Q9H221Primary (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: | May 25, 2022 | |
This is version 194 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families