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UniProtKB - Q9H172 (ABCG4_HUMAN)

Entry version 165 (29 Sep 2021)
Sequence version 2 (05 Dec 2001)
Previous versions | rss
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Protein

ATP-binding cassette sub-family G member 4

Gene

ABCG4

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

ATP-dependent transporter of the ATP-binding cassette (ABC) family that may be involved in the cellular efflux of sterols, in particular cholesterol and desmosterol (a cholesterol precursor), to high-density lipoprotein (HDL) (PubMed:15240127, PubMed:33141061).

May play an important role in the removal of amyloid-beta peptides from brain, in a process that can be antagonized by desmosterol. However it is unclear whether ABCG4 can directly transport amyloid-beta peptides or whether peptide export may be facilitated due to changes in the membrane lipid environment (By similarity).

Induces apoptosis in various cells (PubMed:27228027).

By similarity3 Publications

Miscellaneous

Whether ABCG4 is an LXR target gene, is still under debate. Studies performed in monocytes, and in one astrocyte cell line indicated that ABCG4 expression could be up-regulated by oxysterols and other LXR ligands (PubMed:11606068, PubMed:33141061). However, subsequent observations in a number of different cell types (primary mouse cells, oligodendrocytes and neuron-like cell lines) have not confirmed this observation (By similarity) (PubMed:33141061).By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi102 – 109ATPPROSITE-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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Molecular functionTranslocase
Biological processLipid transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H172

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1369062, ABC transporters in lipid homeostasis

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.204.20, 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 4 (EC:7.6.2.-2 Publications)
<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:ABCG4Imported
Synonyms:WHITE2
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13884, ABCG4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607784, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H172

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000172350

<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

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 – 393CytoplasmicSequence analysisAdd BLAST393
<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>Transmembranei394 – 414Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini415 – 425ExtracellularSequence analysisAdd BLAST11
Transmembranei426 – 446Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini447 – 472CytoplasmicSequence analysisAdd BLAST26
Transmembranei473 – 493Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini494 – 503ExtracellularSequence analysis10
Transmembranei504 – 524Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini525 – 532CytoplasmicSequence analysis8
Transmembranei533 – 553Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini554 – 617ExtracellularSequence analysisAdd BLAST64
Transmembranei618 – 638Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini639 – 646CytoplasmicSequence analysis8

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Endosome, 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

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>Mutagenesisi108K → M: Abrogates ATPase activity. Induces a dominant-negative effect on ABCG1 ATP-activity. Does not affect subcellular localization. 2 Publications1

Organism-specific databases

DisGeNET

More...DisGeNETi		64137

Open Targets

More...OpenTargetsi		ENSG00000172350

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24410

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H172, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCG4

Domain mapping of disease mutations (DMDM)

More...DMDMi		17432915

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000933921 – 646ATP-binding cassette sub-family G member 4Add BLAST646

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>Glycosylationi422N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H172

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

More...PaxDbi		Q9H172

PeptideAtlas

More...PeptideAtlasi		Q9H172

PRoteomics IDEntifications database

More...PRIDEi		Q9H172

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80375 [Q9H172-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9H172, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H172

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

More...PhosphoSitePlusi		Q9H172

<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

Expressed specifically in the brain and the eye.2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Protein expression is stabilized by cellular cholesterol status and cholesterol synthesis intermediates desmosterol, lathosterol and lanosterol.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000172350, Expressed in right hemisphere of cerebellum and 146 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H172, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H172, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000172350, Group enriched (brain, parathyroid gland, retina, testis)

<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

Half-transporter that forms a functional transporter via homo- or heterodimerization. Homodimer (PubMed:27228027). Heterodimers with ABCG1 (Probable) (PubMed:27228027).

1 Publication1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122083, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q9H172, 7 interactors

Molecular INTeraction database

More...MINTi		Q9H172

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000481728

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H172, protein

<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

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

More...SMRi		Q9H172

Database of comparative protein structure models

More...ModBasei		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>Domaini61 – 301ABC transporterPROSITE-ProRule annotationAdd BLAST241
Domaini386 – 641ABC transmembrane type-2Add BLAST256

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157853

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000604_57_6_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H172

Identification of Orthologs from Complete Genome Data

More...OMAi		LPRFWYY

Database of Orthologous Groups

More...OrthoDBi		324553at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H172

TreeFam database of animal gene trees

More...TreeFami		TF105210

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.300, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003593, AAA+_ATPase
IPR013525, ABC_2_trans
IPR003439, ABC_transporter-like
IPR017871, ABC_transporter_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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382, AAA, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 <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 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H172-1) [UniParc]FASTAAdd to basket
Also known as: B

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>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
MAEKALEAVG CGLGPGAVAM AVTLEDGAEP PVLTTHLKKV ENHITEAQRF 
        60         70         80         90        100
SHLPKRSAVD IEFVELSYSV REGPCWRKRG YKTLLKCLSG KFCRRELIGI 
       110        120        130        140        150
MGPSGAGKST FMNILAGYRE SGMKGQILVN GRPRELRTFR KMSCYIMQDD 
       160        170        180        190        200
MLLPHLTVLE AMMVSANLKL SEKQEVKKEL VTEILTALGL MSCSHTRTAL 
       210        220        230        240        250
LSGGQRKRLA IALELVNNPP VMFFDEPTSG LDSASCFQVV SLMKSLAQGG 
       260        270        280        290        300
RTIICTIHQP SAKLFEMFDK LYILSQGQCI FKGVVTNLIP YLKGLGLHCP 
       310        320        330        340        350
TYHNPADFII EVASGEYGDL NPMLFRAVQN GLCAMAEKKS SPEKNEVPAP 
       360        370        380        390        400
CPPCPPEVDP IESHTFATST LTQFCILFKR TFLSILRDTV LTHLRFMSHV 
       410        420        430        440        450
VIGVLIGLLY LHIGDDASKV FNNTGCLFFS MLFLMFAALM PTVLTFPLEM 
       460        470        480        490        500
AVFMREHLNY WYSLKAYYLA KTMADVPFQV VCPVVYCSIV YWMTGQPAET 
       510        520        530        540        550
SRFLLFSALA TATALVAQSL GLLIGAASNS LQVATFVGPV TAIPVLLFSG 
       560        570        580        590        600
FFVSFKTIPT YLQWSSYLSY VRYGFEGVIL TIYGMERGDL TCLEERCPFR 
       610        620        630        640 
EPQSILRALD VEDAKLYMDF LVLGIFFLAL RLLAYLVLRY RVKSER
Length:646
Mass (Da):71,896
Last modified:December 5, 2001 - v2
<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:i9CCEC6E150772611
GO
Isoform 2 (identifier: Q9H172-2) [UniParc]FASTAAdd to basket
Also known as: T3, T4

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAEKALEAVG...VREGPCWRKR → MRDLELREVKQLARGHTA

Show »
Length:585
Mass (Da):65,389
Checksum:iD5F84C0CCADAB9A3
GO
Isoform 3 (identifier: Q9H172-3) [UniParc]FASTAAdd to basket
Also known as: M, T1

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAEKALEAVG...VREGPCWRKR → MCGFSHAFQKRIVAS

Show »
Length:582
Mass (Da):64,948
Checksum:iAA379CF6C876A9EE
GO
Isoform 4 (identifier: Q9H172-4) [UniParc]FASTAAdd to basket
Also known as: T2

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Show »
Length:546
Mass (Da):60,903
Checksum:iBCDB4BCAA06C46B3
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
E9PJ00E9PJ00_HUMAN
ATP-binding cassette sub-family G m...
ABCG4
152Annotation 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
<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_048141352P → L. Corresponds to variant dbSNP:rs35060365EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0542661 – 100Missing in isoform 4. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_0542671 – 79MAEKA…CWRKR → MRDLELREVKQLARGHTA in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_0542681 – 79MAEKA…CWRKR → MCGFSHAFQKRIVAS in isoform 3. 1 PublicationAdd BLAST79

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
AJ308237 mRNA Translation: CAC87131.1
AK289830 mRNA Translation: BAF82519.1
AK290035 mRNA Translation: BAF82724.1
CH471065 Genomic DNA Translation: EAW67464.1
CH471065 Genomic DNA Translation: EAW67465.1
CH471065 Genomic DNA Translation: EAW67466.1
BC041091 mRNA Translation: AAH41091.1
AY055472 Genomic DNA Translation: AAL16400.1
AY055472 Genomic DNA Translation: AAL16401.1
AY055472 Genomic DNA Translation: AAL16402.1
AJ300465 mRNA Translation: CAC17140.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8415.1 [Q9H172-1]

Protein sequence database of the Protein Information Resource

More...PIRi		JC7777

NCBI Reference Sequences

More...RefSeqi		NP_001135977.1, NM_001142505.1 [Q9H172-1]
NP_001335120.1, NM_001348191.1 [Q9H172-1]
NP_001335121.1, NM_001348192.1 [Q9H172-2]
NP_071452.2, NM_022169.4 [Q9H172-1]
XP_011541254.1, XM_011542952.2 [Q9H172-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000615496; ENSP00000479253; ENSG00000172350 [Q9H172-1]
ENST00000619701; ENSP00000481728; ENSG00000172350 [Q9H172-1]
ENST00000622721; ENSP00000484289; ENSG00000172350 [Q9H172-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		64137

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:64137

UCSC genome browser

More...UCSCi		uc031yhk.2, human [Q9H172-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AJ308237 mRNA Translation: CAC87131.1
AK289830 mRNA Translation: BAF82519.1
AK290035 mRNA Translation: BAF82724.1
CH471065 Genomic DNA Translation: EAW67464.1
CH471065 Genomic DNA Translation: EAW67465.1
CH471065 Genomic DNA Translation: EAW67466.1
BC041091 mRNA Translation: AAH41091.1
AY055472 Genomic DNA Translation: AAL16400.1
AY055472 Genomic DNA Translation: AAL16401.1
AY055472 Genomic DNA Translation: AAL16402.1
AJ300465 mRNA Translation: CAC17140.1
CCDSiCCDS8415.1 [Q9H172-1]
PIRiJC7777
RefSeqiNP_001135977.1, NM_001142505.1 [Q9H172-1]
NP_001335120.1, NM_001348191.1 [Q9H172-1]
NP_001335121.1, NM_001348192.1 [Q9H172-2]
NP_071452.2, NM_022169.4 [Q9H172-1]
XP_011541254.1, XM_011542952.2 [Q9H172-3]

3D structure databases

SMRiQ9H172
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122083, 7 interactors
IntActiQ9H172, 7 interactors
MINTiQ9H172
STRINGi9606.ENSP00000481728

Protein family/group databases

TCDBi3.A.1.204.20, the atp-binding cassette (abc) superfamily

PTM databases

GlyGeniQ9H172, 1 site
iPTMnetiQ9H172
PhosphoSitePlusiQ9H172

Genetic variation databases

BioMutaiABCG4
DMDMi17432915

Proteomic databases

MassIVEiQ9H172
PaxDbiQ9H172
PeptideAtlasiQ9H172
PRIDEiQ9H172
ProteomicsDBi80375 [Q9H172-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32624, 198 antibodies

The DNASU plasmid repository

More...DNASUi		64137

Genome annotation databases

EnsembliENST00000615496; ENSP00000479253; ENSG00000172350 [Q9H172-1]
ENST00000619701; ENSP00000481728; ENSG00000172350 [Q9H172-1]
ENST00000622721; ENSP00000484289; ENSG00000172350 [Q9H172-1]
GeneIDi64137
KEGGihsa:64137
UCSCiuc031yhk.2, human [Q9H172-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		64137
DisGeNETi64137

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCG4
HGNCiHGNC:13884, ABCG4
HPAiENSG00000172350, Group enriched (brain, parathyroid gland, retina, testis)
MIMi607784, gene
neXtProtiNX_Q9H172
OpenTargetsiENSG00000172350
PharmGKBiPA24410
VEuPathDBiHostDB:ENSG00000172350

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0061, Eukaryota
GeneTreeiENSGT00940000157853
HOGENOMiCLU_000604_57_6_1
InParanoidiQ9H172
OMAiLPRFWYY
OrthoDBi324553at2759
PhylomeDBiQ9H172
TreeFamiTF105210

Enzyme and pathway databases

PathwayCommonsiQ9H172
ReactomeiR-HSA-1369062, ABC transporters in lipid homeostasis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		64137, 6 hits in 1011 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCG4

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

More...GenomeRNAii		64137
PharosiQ9H172, Tbio

Protein Ontology

More...PROi		PR:Q9H172
RNActiQ9H172, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000172350, Expressed in right hemisphere of cerebellum and 146 other tissues
ExpressionAtlasiQ9H172, baseline and differential
GenevisibleiQ9H172, HS

Family and domain databases

Gene3Di3.40.50.300, 1 hit
InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR013525, ABC_2_trans
IPR003439, ABC_transporter-like
IPR017871, ABC_transporter_CS
IPR043926, ABCG_dom
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF01061, ABC2_membrane, 1 hit
PF19055, ABC2_membrane_7, 1 hit
PF00005, ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382, AAA, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00211, ABC_TRANSPORTER_1, 1 hit
PS50893, ABC_TRANSPORTER_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiABCG4_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: Q9H172
Secondary accession number(s): A8K1B5
, Q8WWH0, Q8WWH1, Q8WWH2
<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: December 5, 2001
Last modified: September 29, 2021
This is version 165 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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