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Protein

ATP-binding cassette sub-family G member 8

Gene

ABCG8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

  • cholesterol efflux Source: BHF-UCL
  • cholesterol homeostasis Source: BHF-UCL
  • excretion Source: BHF-UCL
  • 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 drug Source: Ensembl
  • response to nutrient Source: Ensembl
  • sterol transport Source: Reactome
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143921-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.
R-HSA-265473. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:13887. ABCG8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 416CytoplasmicSequence analysisAdd BLAST416
Transmembranei417 – 437Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini438 – 447ExtracellularSequence analysis10
Transmembranei448 – 468Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini469 – 492CytoplasmicSequence analysisAdd BLAST24
Transmembranei493 – 513Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini514 – 531ExtracellularSequence analysisAdd BLAST18
Transmembranei532 – 552Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini553 – 569CytoplasmicSequence analysisAdd BLAST17
Transmembranei570 – 590Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini591 – 639ExtracellularSequence analysisAdd BLAST49
Transmembranei640 – 660Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini661 – 673CytoplasmicSequence analysisAdd BLAST13

GO - Cellular componenti

  • apical plasma membrane Source: BHF-UCL
  • ATP-binding cassette (ABC) transporter complex Source: BHF-UCL
  • plasma membrane Source: Reactome
  • receptor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Gallbladder disease 4 (GBD4)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionOne 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.
See also OMIM:611465
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01225019D → H Associated significantly with GBD4. 3 PublicationsCorresponds to variant rs11887534dbSNPEnsembl.1
Sitosterolemia (STSL)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:210250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012252184R → H in STSL. 1 PublicationCorresponds to variant rs766212636dbSNPEnsembl.1
Natural variantiVAR_012253231P → T in STSL. 2 PublicationsCorresponds to variant rs137852993dbSNPEnsembl.1
Natural variantiVAR_012256263R → Q in STSL. 2 PublicationsCorresponds to variant rs137852990dbSNPEnsembl.1
Natural variantiVAR_012258405R → H in STSL. 1 Publication1
Natural variantiVAR_012259501L → P in STSL. 1 Publication1
Natural variantiVAR_012260543R → S in STSL. 1 PublicationCorresponds to variant rs201690654dbSNPEnsembl.1
Natural variantiVAR_012261570Missing in STSL. 1 Publication1
Natural variantiVAR_012262572L → P in STSL. 1 PublicationCorresponds to variant rs769576789dbSNPEnsembl.1
Natural variantiVAR_012263574G → E in STSL. 1 Publication1
Natural variantiVAR_012264574G → R in STSL. 2 PublicationsCorresponds to variant rs137852988dbSNPEnsembl.1
Natural variantiVAR_012266596L → R in STSL. 2 PublicationsCorresponds to variant rs137852992dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi64241.
MalaCardsiABCG8.
MIMi210250. phenotype.
611465. phenotype.
OpenTargetsiENSG00000143921.
Orphaneti2882. Sitosterolemia.
PharmGKBiPA24412.

Chemistry databases

DrugBankiDB00973. Ezetimibe.

Polymorphism and mutation databases

BioMutaiABCG8.
DMDMi17432916.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933961 – 673ATP-binding cassette sub-family G member 8Add BLAST673

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi619N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H221.
PeptideAtlasiQ9H221.
PRIDEiQ9H221.

PTM databases

iPTMnetiQ9H221.
PhosphoSitePlusiQ9H221.

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

BgeeiENSG00000143921.
CleanExiHS_ABCG8.
GenevisibleiQ9H221. HS.

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

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL

Protein-protein interaction databases

BioGridi122125. 13 interactors.
DIPiDIP-42631N.
IntActiQ9H221. 8 interactors.
MINTiMINT-2840535.
STRINGi9606.ENSP00000272286.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DO7X-ray3.93B/D2-673[»]
ProteinModelPortaliQ9H221.
SMRiQ9H221.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini47 – 313ABC transporterPROSITE-ProRule annotationAdd BLAST267
Domaini411 – 665ABC transmembrane type-2Add BLAST255

Sequence similaritiesi

Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0061. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00740000114855.
HOGENOMiHOG000033764.
HOVERGENiHBG050444.
InParanoidiQ9H221.
KOiK05684.
OMAiFTYSGQP.
OrthoDBiEOG091G0E38.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01225019D → H Associated significantly with GBD4. 3 PublicationsCorresponds to variant rs11887534dbSNPEnsembl.1
Natural variantiVAR_01225154Y → C.4 PublicationsCorresponds to variant rs4148211dbSNPEnsembl.1
Natural variantiVAR_012252184R → H in STSL. 1 PublicationCorresponds to variant rs766212636dbSNPEnsembl.1
Natural variantiVAR_022074210V → M.Corresponds to variant rs9282574dbSNPEnsembl.1
Natural variantiVAR_012253231P → T in STSL. 2 PublicationsCorresponds to variant rs137852993dbSNPEnsembl.1
Natural variantiVAR_012254238E → K.1 PublicationCorresponds to variant rs34754243dbSNPEnsembl.1
Natural variantiVAR_012255259A → V.1 PublicationCorresponds to variant rs35518570dbSNPEnsembl.1
Natural variantiVAR_012256263R → Q in STSL. 2 PublicationsCorresponds to variant rs137852990dbSNPEnsembl.1
Natural variantiVAR_012257400T → K.3 PublicationsCorresponds to variant rs4148217dbSNPEnsembl.1
Natural variantiVAR_012258405R → H in STSL. 1 Publication1
Natural variantiVAR_012259501L → P in STSL. 1 Publication1
Natural variantiVAR_012260543R → S in STSL. 1 PublicationCorresponds to variant rs201690654dbSNPEnsembl.1
Natural variantiVAR_012261570Missing in STSL. 1 Publication1
Natural variantiVAR_012262572L → P in STSL. 1 PublicationCorresponds to variant rs769576789dbSNPEnsembl.1
Natural variantiVAR_012263574G → E in STSL. 1 Publication1
Natural variantiVAR_012264574G → R in STSL. 2 PublicationsCorresponds to variant rs137852988dbSNPEnsembl.1
Natural variantiVAR_012265575G → R.1 PublicationCorresponds to variant rs36209700dbSNPEnsembl.1
Natural variantiVAR_012266596L → R in STSL. 2 PublicationsCorresponds to variant rs137852992dbSNPEnsembl.1
Natural variantiVAR_012267632V → A.2 PublicationsCorresponds to variant rs6544718dbSNPEnsembl.1
Natural variantiVAR_020785641Y → F.1 PublicationCorresponds to variant rs145125968dbSNPEnsembl.1
Natural variantiVAR_022075655M → V.Corresponds to variant rs9282573dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000052376Missing in isoform 2. 1 Publication1

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_005264483.3. [Q9H221-2]
UniGeneiHs.413931.

Genome annotation databases

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

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.
CCDSiCCDS1815.1. [Q9H221-1]
RefSeqiNP_071882.1. NM_022437.2. [Q9H221-1]
XP_005264540.1. XM_005264483.3. [Q9H221-2]
UniGeneiHs.413931.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DO7X-ray3.93B/D2-673[»]
ProteinModelPortaliQ9H221.
SMRiQ9H221.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122125. 13 interactors.
DIPiDIP-42631N.
IntActiQ9H221. 8 interactors.
MINTiMINT-2840535.
STRINGi9606.ENSP00000272286.

Chemistry databases

DrugBankiDB00973. Ezetimibe.

Protein family/group databases

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

PTM databases

iPTMnetiQ9H221.
PhosphoSitePlusiQ9H221.

Polymorphism and mutation databases

BioMutaiABCG8.
DMDMi17432916.

Proteomic databases

PaxDbiQ9H221.
PeptideAtlasiQ9H221.
PRIDEiQ9H221.

Protocols and materials databases

DNASUi64241.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi64241.
DisGeNETi64241.
GeneCardsiABCG8.
GeneReviewsiABCG8.
HGNCiHGNC:13887. ABCG8.
HPAiHPA019556.
MalaCardsiABCG8.
MIMi210250. phenotype.
605460. gene.
611465. phenotype.
neXtProtiNX_Q9H221.
OpenTargetsiENSG00000143921.
Orphaneti2882. Sitosterolemia.
PharmGKBiPA24412.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0061. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00740000114855.
HOGENOMiHOG000033764.
HOVERGENiHBG050444.
InParanoidiQ9H221.
KOiK05684.
OMAiFTYSGQP.
OrthoDBiEOG091G0E38.
PhylomeDBiQ9H221.
TreeFamiTF105212.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143921-MONOMER.
ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.
R-HSA-265473. Trafficking of dietary sterols.

Miscellaneous databases

GeneWikiiABCG8.
GenomeRNAii64241.
PROiQ9H221.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143921.
CleanExiHS_ABCG8.
GenevisibleiQ9H221. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 152 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

Caution

Seems to have a defective ATP-binding region.Curated

Keywords - Technical termi

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.