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Protein

ATP-binding cassette sub-family G member 5

Gene

ABCG5

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 (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).1 Publication1 Publication5 Publications

<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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi86 – 93ATPPROSITE-ProRule annotation8

<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: UniProtKB-KW
  • cholesterol transporter activity Source: Ensembl
  • drug transmembrane transporter activity Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: BHF-UCL

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
  • response to ionizing radiation Source: Ensembl
  • response to nutrient Source: Ensembl
  • transmembrane transport Source: GO_Central

<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
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-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
Q9H222

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 5
Alternative name(s):
Sterolin-1
<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:ABCG5
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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:ENSG00000138075.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13886 ABCG5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605459 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H222

<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 – 383Cytoplasmic1 PublicationAdd BLAST383
<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>Transmembranei384 – 404Helical; Name=11 PublicationAdd BLAST21
Topological domaini405 – 421Extracellular1 PublicationAdd BLAST17
Transmembranei422 – 442Helical; Name=21 PublicationAdd BLAST21
Topological domaini443 – 467Cytoplasmic1 PublicationAdd BLAST25
Transmembranei468 – 489Helical; Name=31 PublicationAdd BLAST22
Topological domaini490 – 500Extracellular1 PublicationAdd BLAST11
Transmembranei501 – 521Helical; Name=41 PublicationAdd BLAST21
Topological domaini522 – 528Cytoplasmic1 Publication7
Transmembranei529 – 549Helical; Name=51 PublicationAdd BLAST21
Topological domaini550 – 623Extracellular1 PublicationAdd BLAST74
Transmembranei624 – 644Helical; Name=61 PublicationAdd BLAST21
Topological domaini645 – 651Cytoplasmic1 Publication7

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

Sitosterolemia (STSL)4 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_012244146E → Q in STSL; decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs758551848Ensembl.1
Natural variantiVAR_012245389R → H in STSL; loss of normal maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs119480069EnsemblClinVar.1
Natural variantiVAR_012246419R → H in STSL; loss of normal maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs119479067EnsemblClinVar.1
Natural variantiVAR_012247419R → P in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs119479067EnsemblClinVar.1
Natural variantiVAR_020781437N → K in STSL; loss of normal maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs575266356Ensembl.1
Natural variantiVAR_012248550R → S in STSL. 1 Publication1

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>Mutagenesisi92 – 93KT → RA: Abolishes increase of the very low basal ATPase activity by cholate. 1 Publication2
Mutagenesisi432Y → A: Strongly decreases cholesterol secretion into bile. 1 Publication1
Mutagenesisi540A → F: Strongly decreases cholesterol secretion into bile. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
64240

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

More...
GeneReviewsi
ABCG5

MalaCards human disease database

More...
MalaCardsi
ABCG5
MIMi210250 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138075

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

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PharmGKBi
PA24411

Chemistry databases

Drug and drug target database

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DrugBanki
DB00973 Ezetimibe

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCG5

Domain mapping of disease mutations (DMDM)

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DMDMi
17432917

<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_00000933931 – 651ATP-binding cassette sub-family G member 5Add BLAST651

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>Glycosylationi584N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi591N-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

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PaxDbi
Q9H222

PeptideAtlas

More...
PeptideAtlasi
Q9H222

PRoteomics IDEntifications database

More...
PRIDEi
Q9H222

ProteomicsDB human proteome resource

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ProteomicsDBi
80475

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H222

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

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PhosphoSitePlusi
Q9H222

<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

Strongly expressed in the liver, lower levels in the small intestine and colon.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000138075 Expressed in 32 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

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CleanExi
HS_ABCG5

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H222 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H222 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016514

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122124, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9H222

Database of interacting proteins

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DIPi
DIP-42630N

Protein interaction database and analysis system

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IntActi
Q9H222, 5 interactors

Molecular INTeraction database

More...
MINTi
Q9H222

STRING: functional protein association networks

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STRINGi
9606.ENSP00000260645

<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

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ProteinModelPortali
Q9H222

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

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SMRi
Q9H222

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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>Domaini52 – 293ABC transporterPROSITE-ProRule annotationAdd BLAST242
Domaini388 – 645ABC transmembrane type-2Add BLAST258

<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

The Walker motif (consensus sequence G-X-X-G-X-G-K-[ST]-T) is expected to bind ATP. Within this motif, the conserved Lys is essential for transport activity mediated by the heterodimer with ABCG8.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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0061 Eukaryota
COG1131 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157985

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000033763

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050443

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H222

KEGG Orthology (KO)

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KOi
K05683

Identification of Orthologs from Complete Genome Data

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OMAi
HASYSVS

Database of Orthologous Groups

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OrthoDBi
EOG091G0FOJ

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H222

TreeFam database of animal gene trees

More...
TreeFami
TF105212

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR013525 ABC_2_trans
IPR003439 ABC_transporter-like
IPR027417 P-loop_NTPase

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00382 AAA, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
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: Q9H222-1) [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
MGDLSSLTPG GSMGLQVNRG SQSSLEGAPA TAPEPHSLGI LHASYSVSHR
60 70 80 90 100
VRPWWDITSC RQQWTRQILK DVSLYVESGQ IMCILGSSGS GKTTLLDAMS
110 120 130 140 150
GRLGRAGTFL GEVYVNGRAL RREQFQDCFS YVLQSDTLLS SLTVRETLHY
160 170 180 190 200
TALLAIRRGN PGSFQKKVEA VMAELSLSHV ADRLIGNYSL GGISTGERRR
210 220 230 240 250
VSIAAQLLQD PKVMLFDEPT TGLDCMTANQ IVVLLVELAR RNRIVVLTIH
260 270 280 290 300
QPRSELFQLF DKIAILSFGE LIFCGTPAEM LDFFNDCGYP CPEHSNPFDF
310 320 330 340 350
YMDLTSVDTQ SKEREIETSK RVQMIESAYK KSAICHKTLK NIERMKHLKT
360 370 380 390 400
LPMVPFKTKD SPGVFSKLGV LLRRVTRNLV RNKLAVITRL LQNLIMGLFL
410 420 430 440 450
LFFVLRVRSN VLKGAIQDRV GLLYQFVGAT PYTGMLNAVN LFPVLRAVSD
460 470 480 490 500
QESQDGLYQK WQMMLAYALH VLPFSVVATM IFSSVCYWTL GLHPEVARFG
510 520 530 540 550
YFSAALLAPH LIGEFLTLVL LGIVQNPNIV NSVVALLSIA GVLVGSGFLR
560 570 580 590 600
NIQEMPIPFK IISYFTFQKY CSEILVVNEF YGLNFTCGSS NVSVTTNPMC
610 620 630 640 650
AFTQGIQFIE KTCPGATSRF TMNFLILYSF IPALVILGIV VFKIRDHLIS

R
Length:651
Mass (Da):72,504
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:i950BABFCBB6A1536
GO
Isoform 2 (identifier: Q9H222-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-395: Missing.

Note: No experimental confirmation available.
Show »
Length:256
Mass (Da):28,480
Checksum:iE8AB9B5738CDA01C
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
E7EX35E7EX35_HUMAN
ATP-binding cassette sub-family G m...
ABCG5
480Annotation 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_04814250R → C. Corresponds to variant dbSNP:rs6756629EnsemblClinVar.1
Natural variantiVAR_012244146E → Q in STSL; decreased maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs758551848Ensembl.1
Natural variantiVAR_012245389R → H in STSL; loss of normal maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs119480069EnsemblClinVar.1
Natural variantiVAR_012246419R → H in STSL; loss of normal maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs119479067EnsemblClinVar.1
Natural variantiVAR_012247419R → P in STSL; strongly decreased maturation of glycan chains. 3 PublicationsCorresponds to variant dbSNP:rs119479067EnsemblClinVar.1
Natural variantiVAR_020781437N → K in STSL; loss of normal maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs575266356Ensembl.1
Natural variantiVAR_033457517T → S. Corresponds to variant dbSNP:rs17031672Ensembl.1
Natural variantiVAR_020782523I → V1 PublicationCorresponds to variant dbSNP:rs140899003EnsemblClinVar.1
Natural variantiVAR_012248550R → S in STSL. 1 Publication1
Natural variantiVAR_020783600C → Y1 PublicationCorresponds to variant dbSNP:rs779109455Ensembl.1
Natural variantiVAR_012249604Q → E4 PublicationsCorresponds to variant dbSNP:rs6720173EnsemblClinVar.1
Natural variantiVAR_020784622M → V1 PublicationCorresponds to variant dbSNP:rs140374206EnsemblClinVar.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_0557701 – 395Missing in isoform 2. 1 PublicationAdd BLAST395

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF320293 mRNA Translation: AAG40003.1
AF312715 mRNA Translation: AAG53099.1
AC011242 Genomic DNA No translation available.
AC108476 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00286.1
BC111541 mRNA Translation: AAI11542.1
AF404106 Genomic DNA Translation: AAK85387.1
AF404107 Genomic DNA Translation: AAK85388.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1814.1 [Q9H222-1]

NCBI Reference Sequences

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RefSeqi
NP_071881.1, NM_022436.2 [Q9H222-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.132992

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000260645; ENSP00000260645; ENSG00000138075 [Q9H222-1]
ENST00000405322; ENSP00000384513; ENSG00000138075 [Q9H222-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64240

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64240

UCSC genome browser

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UCSCi
uc002rtn.3 human [Q9H222-1]

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
AF320293 mRNA Translation: AAG40003.1
AF312715 mRNA Translation: AAG53099.1
AC011242 Genomic DNA No translation available.
AC108476 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00286.1
BC111541 mRNA Translation: AAI11542.1
AF404106 Genomic DNA Translation: AAK85387.1
AF404107 Genomic DNA Translation: AAK85388.1
CCDSiCCDS1814.1 [Q9H222-1]
RefSeqiNP_071881.1, NM_022436.2 [Q9H222-1]
UniGeneiHs.132992

3D structure databases

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DO7X-ray3.93A/C1-651[»]
ProteinModelPortaliQ9H222
SMRiQ9H222
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122124, 1 interactor
CORUMiQ9H222
DIPiDIP-42630N
IntActiQ9H222, 5 interactors
MINTiQ9H222
STRINGi9606.ENSP00000260645

Chemistry databases

DrugBankiDB00973 Ezetimibe

Protein family/group databases

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

PTM databases

iPTMnetiQ9H222
PhosphoSitePlusiQ9H222

Polymorphism and mutation databases

BioMutaiABCG5
DMDMi17432917

Proteomic databases

PaxDbiQ9H222
PeptideAtlasiQ9H222
PRIDEiQ9H222
ProteomicsDBi80475

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260645; ENSP00000260645; ENSG00000138075 [Q9H222-1]
ENST00000405322; ENSP00000384513; ENSG00000138075 [Q9H222-1]
GeneIDi64240
KEGGihsa:64240
UCSCiuc002rtn.3 human [Q9H222-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64240
DisGeNETi64240
EuPathDBiHostDB:ENSG00000138075.11

GeneCards: human genes, protein and diseases

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GeneCardsi
ABCG5
GeneReviewsiABCG5
HGNCiHGNC:13886 ABCG5
HPAiHPA016514
MalaCardsiABCG5
MIMi210250 phenotype
605459 gene
neXtProtiNX_Q9H222
OpenTargetsiENSG00000138075
Orphaneti391665 Homozygous familial hypercholesterolemia
2882 Sitosterolemia
PharmGKBiPA24411

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0061 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00940000157985
HOGENOMiHOG000033763
HOVERGENiHBG050443
InParanoidiQ9H222
KOiK05683
OMAiHASYSVS
OrthoDBiEOG091G0FOJ
PhylomeDBiQ9H222
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
SIGNORiQ9H222

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ABCG5

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

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GenomeRNAii
64240

Protein Ontology

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PROi
PR:Q9H222

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138075 Expressed in 32 organ(s), highest expression level in liver
CleanExiHS_ABCG5
ExpressionAtlasiQ9H222 baseline and differential
GenevisibleiQ9H222 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR013525 ABC_2_trans
IPR003439 ABC_transporter-like
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01061 ABC2_membrane, 1 hit
PF00005 ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50893 ABC_TRANSPORTER_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiABCG5_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: Q9H222
Secondary accession number(s): Q2T9G2, Q96QZ2, Q96QZ3
<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 167 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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