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 Publications

Caution

Seems to have a defective ATP-binding region.Curated

Catalytic activityⁱ

Cofactorⁱ

Mg²⁺By similarity

Activity regulationⁱ

The ATPase activity of the heterodimer is stimulated by cholate. Taurocholate, glycocholate, taurochenodeoxycholate, glycochenodeoxycholate and taurodeoxycholate also stimulate ATPase activity, but to a lower degree. Glycodeoxycholate has no significant effect on ATPase activity. ATPase activity is inhibited by vanadate and by berillium fluoride.2 Publications

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

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

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:13887, ABCG8
MIMⁱ	605460, gene
neXtProtⁱ	NX_Q9H221
VEuPathDBⁱ	HostDB:ENSG00000143921

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Gallbladder disease 4 (GBD4)1 Publication

Disease susceptibility may be associated with variants 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.

Related information in OMIM

Sitosterolemia 1 (STSL1)3 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	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 variant

Organism-specific databases

DisGeNET More...DisGeNETⁱ	64241
GeneReviewsⁱ	ABCG8
MalaCards human disease database More...MalaCardsⁱ	ABCG8
MIMⁱ	210250, phenotype 611465, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000143921
Orphanetⁱ	391665, Homozygous familial hypercholesterolemia 2882, Sitosterolemia
PharmGKBⁱ	PA24412

Miscellaneous databases

Pharosⁱ	Q9H221, Tbio

Pharosⁱ

Q9H221, Tbio

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB11635, Tocofersolan

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

Glycoprotein

Proteomic databases

MassIVEⁱ	Q9H221
PaxDbⁱ	Q9H221
PeptideAtlas More...PeptideAtlasⁱ	Q9H221
PRIDEⁱ	Q9H221
ProteomicsDBⁱ	80473 [Q9H221-1] 80474 [Q9H221-2]

PTM databases

GlyGenⁱ	Q9H221, 1 site
iPTMnetⁱ	Q9H221
PhosphoSitePlusⁱ	Q9H221

Expressionⁱ

Tissue specificityⁱ

Predominantly expressed in the liver (PubMed:11099417, PubMed:11452359). Low expression levels in the small intestine and colon (PubMed:11099417). Very low levels in other tissues, including brain, heart and spleen (PubMed:11452359).2 Publications

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

Human Protein Atlas More...HPAⁱ	ENSG00000143921, Group enriched (intestine, liver)

HPAⁱ

ENSG00000143921, Group enriched (intestine, liver)

Interactionⁱ

Subunit structureⁱ

Heterodimer with ABCG8.

3 Publications

Binary interactionsⁱ

Hide details

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
Inferred from physical interactionⁱ
- "Expression and functional characterization of ABCG1 splice variant ABCG1(666)."
  Engel T., Bode G., Lueken A., Knop M., Kannenberg F., Nofer J.R., Assmann G., Seedorf U.
  FEBS Lett 580:4551-4559(2006) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	122125, 16 interactors
CORUMⁱ	Q9H221
Database of interacting proteins More...DIPⁱ	DIP-42631N
IntActⁱ	Q9H221, 14 interactors
Molecular INTeraction database More...MINTⁱ	Q9H221
STRINGⁱ	9606.ENSP00000272286

Miscellaneous databases

RNActⁱ	Q9H221, protein

RNActⁱ

Q9H221, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	46 – 55	Combined sources	10
Beta strandⁱ	88 – 96	Combined sources	9
Beta strandⁱ	100 – 106	Combined sources	7
Beta strandⁱ	110 – 112	Combined sources	3
Helixⁱ	114 – 119	Combined sources	6
Beta strandⁱ	130 – 134	Combined sources	5
Helixⁱ	141 – 147	Combined sources	7
Beta strandⁱ	148 – 151	Combined sources	4
Helixⁱ	163 – 174	Combined sources	12
Helixⁱ	181 – 194	Combined sources	14
Helixⁱ	198 – 200	Combined sources	3
Beta strandⁱ	201 – 204	Combined sources	4
Beta strandⁱ	211 – 213	Combined sources	3
Helixⁱ	215 – 227	Combined sources	13
Beta strandⁱ	232 – 238	Combined sources	7
Turnⁱ	239 – 242	Combined sources	4
Helixⁱ	245 – 259	Combined sources	15
Beta strandⁱ	264 – 268	Combined sources	5
Beta strandⁱ	274 – 276	Combined sources	3
Helixⁱ	277 – 279	Combined sources	3
Beta strandⁱ	281 – 287	Combined sources	7
Beta strandⁱ	290 – 297	Combined sources	8
Helixⁱ	300 – 305	Combined sources	6
Turnⁱ	306 – 308	Combined sources	3
Beta strandⁱ	313 – 315	Combined sources	3
Helixⁱ	317 – 323	Combined sources	7
Helixⁱ	333 – 352	Combined sources	20
Turnⁱ	353 – 355	Combined sources	3
Helixⁱ	357 – 359	Combined sources	3
Helixⁱ	395 – 410	Combined sources	16
Helixⁱ	414 – 434	Combined sources	21
Beta strandⁱ	438 – 441	Combined sources	4
Helixⁱ	445 – 458	Combined sources	14
Helixⁱ	460 – 472	Combined sources	13
Helixⁱ	475 – 484	Combined sources	10
Helixⁱ	491 – 516	Combined sources	26
Turnⁱ	517 – 520	Combined sources	4
Helixⁱ	526 – 552	Combined sources	27
Beta strandⁱ	553 – 555	Combined sources	3
Helixⁱ	556 – 572	Combined sources	17
Turnⁱ	575 – 577	Combined sources	3
Turnⁱ	579 – 581	Combined sources	3
Helixⁱ	586 – 592	Combined sources	7
Helixⁱ	595 – 608	Combined sources	14
Helixⁱ	628 – 632	Combined sources	5
Beta strandⁱ	636 – 638	Combined sources	3
Helixⁱ	640 – 664	Combined sources	25

Show more details

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

A functional Walker motif (consensus sequence G-X-X-G-X-G-K-[ST]-T) is expected to bind ATP. The essential Lys in this region is not conserved in ABCG8 (G-S-S-G-C-R-A-S) and is not required for transport activity mediated by the heterodimer with ABCG5.By similarity

Sequence similaritiesⁱ

Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. [View classification]Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG0061, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000159739
HOGENOMⁱ	CLU_000604_57_9_1
InParanoidⁱ	Q9H221
OMAⁱ	RDTDDHM
Database of Orthologous Groups More...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
Pfam protein domain database More...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

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show all Align All

Isoform 1 (identifier: Q9H221-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ 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]FASTA Add to basket

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

« 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 DTCVESVTPL DTNCLPSPTK MPGAVQQFTT 
       410        420        430        440        450
LIRRQISNDF RDLPTLLIHG AEACLMSMTI GFLYFGHGSI QLSFMDTAAL 
       460        470        480        490        500
LFMIGALIPF NVILDVISKC YSERAMLYYE LEDGLYTTGP YFFAKILGEL 
       510        520        530        540        550
PEHCAYIIIY GMPTYWLANL RPGLQPFLLH FLLVWLVVFC CRIMALAAAA 
       560        570        580        590        600
LLPTFHMASF FSNALYNSFY LAGGFMINLS SLWTVPAWIS KVSFLRWCFE 
       610        620        630        640        650
GLMKIQFSRR TYKMPLGNLT IAVSGDKILS VMELDSYPLY AIYLIVIGLS 
       660        670 
GGFMVLYYVS LRFIKQKPSQ DW

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

Show »

Length:672

Mass (Da):75,592

Checksum:ⁱA7F428ED11B104DE

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	A0A2R8Y6M1	A0A2R8Y6M1_HUMAN		ATP-binding cassette sub-family G m... ATP-binding cassette sub-family G member 8	ABCG8	455	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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 AF351823 Genomic DNA Translation: AAK84663.1 AC108476 Genomic DNA Translation: AAY24011.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS1815.1 [Q9H221-1]
NCBI Reference Sequences More...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
UCSC genome browser More...UCSCⁱ	uc002rtq.3, human [Q9H221-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9H221	Sterolin 2 (Fragment)		HUMAN		21	UniRef90_Q9H221
+2
Q9H221-2	ATP binding cassette subfamily G member 8		CALJA		722	UniRef90_Q9H221-2
ATP binding cassette subfamily G member 8		SAIBB		672
ABCG8 protein		HUMAN		672
ATP-binding cassette sub-family G member 8		SAPAP		672
+9

Protein	Similar proteins		Species	Score	Length	Source
Q9H221	ATP-binding cassette sub-family G member 8		RAT		694	UniRef50_Q9H221
Sterolin 2 (Fragment)		HUMAN		21
ATP binding cassette subfamily G member 8		ANAPP		731
ATP binding cassette subfamily G member 8		Muscovy Duck (domestic type)		678
ATP-binding cassette sub-family G member 8		AYTFU		678
+1207

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 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: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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

DrugBankⁱ

DB11635, Tocofersolan

Protein family/group databases

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

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
The DNASU plasmid repository More...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
GenAtlas: human gene database More...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
Protein Ontology More...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 proteome

Documents

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

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UniProtKB - Q9H221 (ABCG8_HUMAN)

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ATP-binding cassette sub-family G member 8

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

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<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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Proteomic databases

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Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Q9H221

Isoform 1 [Q9H221-1]

GO - Molecular functioni

Protein-protein interaction databases

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Keywords - Coding sequence diversityi

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Sequence databases

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Protein-protein interaction databases

Chemistry databases

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Protocols and materials databases

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Miscellaneous databases

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Functionⁱ

Catalytic activityⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

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Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ