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UniProtKB - Q9H221 (ABCG8_HUMAN)

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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
  • ATP binding Source: InterPro
  • cholesterol transporter activity Source: Ensembl
  • drug transmembrane transporter activity Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: BHF-UCL
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cholesterol efflux Source: UniProtKB
  • cholesterol homeostasis Source: UniProtKB
  • 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 nutrient Source: Ensembl
  • transmembrane transport Source: GO_Central
View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processLipid transport, Transport
LigandMagnesium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-5679090 Defective ABCG8 causes gallbladder disease 4 and sitosterolemia
R-HSA-5679096 Defective ABCG5 causes sitosterolemia

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9H221

Protein family/group databases

Transport Classification Database

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

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family G member 8
Alternative name(s):
Sterolin-21 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCG8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000143921.6

Human Gene Nomenclature Database

More...HGNCi		HGNC:13887 ABCG8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605460 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H221

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 416Cytoplasmic1 PublicationAdd BLAST416
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei417 – 437Helical; Name=11 PublicationAdd BLAST21
Topological domaini438 – 447Extracellular1 Publication10
Transmembranei448 – 468Helical; Name=21 PublicationAdd BLAST21
Topological domaini469 – 497Cytoplasmic1 PublicationAdd BLAST29
Transmembranei498 – 518Helical; Name=31 PublicationAdd BLAST21
Topological domaini519 – 527Extracellular1 Publication9
Transmembranei528 – 548Helical; Name=41 PublicationAdd BLAST21
Topological domaini549 – 555Cytoplasmic1 Publication7
Transmembranei556 – 576Helical; Name=51 PublicationAdd BLAST21
Topological domaini577 – 639Extracellular1 PublicationAdd BLAST63
Transmembranei640 – 660Helical; Name=61 PublicationAdd BLAST21
Topological domaini661 – 673Cytoplasmic1 PublicationAdd BLAST13

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
Sitosterolemia (STSL)3 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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012252184R → H in STSL; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs766212636EnsemblClinVar.1
Natural variantiVAR_012253231P → T in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852993EnsemblClinVar.1
Natural variantiVAR_012254238E → K in STSL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34754243EnsemblClinVar.1
Natural variantiVAR_012256263R → Q in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852990EnsemblClinVar.1
Natural variantiVAR_012258405R → H in STSL. 1 Publication1
Natural variantiVAR_012259501L → P in STSL; strongly decreased maturation of glycan chains. 2 Publications1
Natural variantiVAR_012260543R → S in STSL; decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs201690654EnsemblClinVar.1
Natural variantiVAR_012261570Missing in STSL. 1 Publication1
Natural variantiVAR_012262572L → P in STSL. 1 PublicationCorresponds to variant dbSNP:rs769576789Ensembl.1
Natural variantiVAR_012263574G → E in STSL; strongly decreased maturation of glycan chains. 2 Publications1
Natural variantiVAR_012264574G → R in STSL; decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852988EnsemblClinVar.1
Natural variantiVAR_012266596L → R in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852992EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi216G → D: Loss of ATPase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		64241

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ABCG8

MalaCards human disease database

More...MalaCardsi		ABCG8
MIMi210250 phenotype
611465 phenotype

Open Targets

More...OpenTargetsi		ENSG00000143921

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		391665 Homozygous familial hypercholesterolemia
2882 Sitosterolemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24412

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00973 Ezetimibe

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCG8

Domain mapping of disease mutations (DMDM)

More...DMDMi		17432916

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000933961 – 673ATP-binding cassette sub-family G member 8Add BLAST673

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi619N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9H221

PeptideAtlas

More...PeptideAtlasi		Q9H221

PRoteomics IDEntifications database

More...PRIDEi		Q9H221

ProteomicsDB human proteome resource

More...ProteomicsDBi		80473
80474 [Q9H221-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H221

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9H221

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143921 Expressed in 30 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

More...CleanExi		HS_ABCG8

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H221 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA019556

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with ABCG8.3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		122125, 13 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9H221

Database of interacting proteins

More...DIPi		DIP-42631N

Protein interaction database and analysis system

More...IntActi		Q9H221, 9 interactors

Molecular INTeraction database

More...MINTi		Q9H221

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000272286

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9H221

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9H221

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini47 – 313ABC transporterPROSITE-ProRule annotationAdd BLAST267
Domaini411 – 665ABC transmembrane type-2Add BLAST255

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0061 Eukaryota
COG1131 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159739

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000033764

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG050444

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H221

KEGG Orthology (KO)

More...KOi		K05684

Identification of Orthologs from Complete Genome Data

More...OMAi		CCRIMAL

Database of Orthologous Groups

More...OrthoDBi		EOG091G0E38

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H221

TreeFam database of animal gene trees

More...TreeFami		TF105212

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013525 ABC_2_trans
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR027417 P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01061 ABC2_membrane, 1 hit
PF00005 ABC_tran, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y6M1A0A2R8Y6M1_HUMAN
ATP-binding cassette sub-family G m...
ABCG8
455Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01225019D → H Associated significantly with GBD4. 3 PublicationsCorresponds to variant dbSNP:rs11887534EnsemblClinVar.1
Natural variantiVAR_01225154Y → C4 PublicationsCorresponds to variant dbSNP:rs4148211EnsemblClinVar.1
Natural variantiVAR_012252184R → H in STSL; strongly decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs766212636EnsemblClinVar.1
Natural variantiVAR_022074210V → M. Corresponds to variant dbSNP:rs9282574EnsemblClinVar.1
Natural variantiVAR_012253231P → T in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852993EnsemblClinVar.1
Natural variantiVAR_012254238E → K in STSL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34754243EnsemblClinVar.1
Natural variantiVAR_012255259A → V1 PublicationCorresponds to variant dbSNP:rs35518570Ensembl.1
Natural variantiVAR_012256263R → Q in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852990EnsemblClinVar.1
Natural variantiVAR_012257400T → K3 PublicationsCorresponds to variant dbSNP:rs4148217EnsemblClinVar.1
Natural variantiVAR_012258405R → H in STSL. 1 Publication1
Natural variantiVAR_012259501L → P in STSL; strongly decreased maturation of glycan chains. 2 Publications1
Natural variantiVAR_012260543R → S in STSL; decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs201690654EnsemblClinVar.1
Natural variantiVAR_012261570Missing in STSL. 1 Publication1
Natural variantiVAR_012262572L → P in STSL. 1 PublicationCorresponds to variant dbSNP:rs769576789Ensembl.1
Natural variantiVAR_012263574G → E in STSL; strongly decreased maturation of glycan chains. 2 Publications1
Natural variantiVAR_012264574G → R in STSL; decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852988EnsemblClinVar.1
Natural variantiVAR_012265575G → R1 Publication1
Natural variantiVAR_012266596L → R in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs137852992EnsemblClinVar.1
Natural variantiVAR_012267632V → A2 PublicationsCorresponds to variant dbSNP:rs6544718EnsemblClinVar.1
Natural variantiVAR_020785641Y → F1 PublicationCorresponds to variant dbSNP:rs145125968Ensembl.1
Natural variantiVAR_022075655M → V. Corresponds to variant dbSNP:rs9282573Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000052376Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.413931

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000272286; ENSP00000272286; ENSG00000143921 [Q9H221-1]
ENST00000645013; ENSP00000496450; ENSG00000143921 [Q9H221-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		64241

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:64241

UCSC genome browser

More...UCSCi		uc002rtq.3 human [Q9H221-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
UniGeneiHs.413931

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 entryMethodResolution (Å)ChainPositionsPDBsum
5DO7X-ray3.93B/D2-673[»]
ProteinModelPortaliQ9H221
SMRiQ9H221
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122125, 13 interactors
CORUMiQ9H221
DIPiDIP-42631N
IntActiQ9H221, 9 interactors
MINTiQ9H221
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
ProteomicsDBi80473
80474 [Q9H221-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		64241
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272286; ENSP00000272286; ENSG00000143921 [Q9H221-1]
ENST00000645013; ENSP00000496450; ENSG00000143921 [Q9H221-1]
GeneIDi64241
KEGGihsa:64241
UCSCiuc002rtq.3 human [Q9H221-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		64241
DisGeNETi64241
EuPathDBiHostDB:ENSG00000143921.6

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCG8
GeneReviewsiABCG8
HGNCiHGNC:13887 ABCG8
HPAiHPA019556
MalaCardsiABCG8
MIMi210250 phenotype
605460 gene
611465 phenotype
neXtProtiNX_Q9H221
OpenTargetsiENSG00000143921
Orphaneti391665 Homozygous familial hypercholesterolemia
2882 Sitosterolemia
PharmGKBiPA24412

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0061 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00940000159739
HOGENOMiHOG000033764
HOVERGENiHBG050444
InParanoidiQ9H221
KOiK05684
OMAiCCRIMAL
OrthoDBiEOG091G0E38
PhylomeDBiQ9H221
TreeFamiTF105212

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-5679090 Defective ABCG8 causes gallbladder disease 4 and sitosterolemia
R-HSA-5679096 Defective ABCG5 causes sitosterolemia
SIGNORiQ9H221

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCG8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		64241

Protein Ontology

More...PROi		PR:Q9H221

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143921 Expressed in 30 organ(s), highest expression level in right lobe of liver
CleanExiHS_ABCG8
GenevisibleiQ9H221 HS

Family and domain databases

InterProiView protein in InterPro
IPR013525 ABC_2_trans
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01061 ABC2_membrane, 1 hit
PF00005 ABC_tran, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCG8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H221
Secondary accession number(s): Q53QN8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: March 1, 2001
Last modified: December 5, 2018
This is version 173 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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