Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Phosphatidylcholine translocator ABCB4

Gene

ABCB4

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

Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to fu rther enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). Promotes biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571, PubMed:28012258). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity).By similarity11 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

  • ATP + H(2)O + xenobiotic(Side 1) = ADP + phosphate + xenobiotic(Side 2). EC:7.6.2.2

<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

Translocation activity is inhibited by the ATPase inhibitor vanadate and the calcium channel blocker verapamil (PubMed:17523162, PubMed:23468132). Translocation activity is enhanced by the addition of the bile salt taurocholate (PubMed:17523162, PubMed:23468132).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 bindingi429 – 436ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1069 – 1076ATP 2PROSITE-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

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1989781 PPARA activates gene expression
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678771 Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P21439

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.1.201.3 the atp-binding cassette (abc) superfamily

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000384

<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:
Phosphatidylcholine translocator ABCB4Curated
Alternative name(s):
ATP-binding cassette sub-family B member 4Imported
Multidrug resistance protein 31 Publication (EC:7.6.2.2)
P-glycoprotein 3By similarity
<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:ABCB4Imported
Synonyms:MDR31 Publication, PGY3
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000005471.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:45 ABCB4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
171060 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P21439

<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 – 50CytoplasmicBy similarityAdd BLAST50
<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>Transmembranei51 – 73HelicalPROSITE-ProRule annotationAdd BLAST23
Topological domaini74 – 118ExtracellularBy similarityAdd BLAST45
Transmembranei119 – 139HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini140 – 188CytoplasmicBy similarityAdd BLAST49
Transmembranei189 – 210HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini211 – 217ExtracellularBy similarity7
Transmembranei218 – 238HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini239 – 296CytoplasmicBy similarityAdd BLAST58
Transmembranei297 – 318HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini319 – 332ExtracellularBy similarityAdd BLAST14
Transmembranei333 – 354HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini355 – 711CytoplasmicBy similarityAdd BLAST357
Transmembranei712 – 732HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini733 – 755ExtracellularBy similarityAdd BLAST23
Transmembranei756 – 776HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini777 – 831CytoplasmicBy similarityAdd BLAST55
Transmembranei832 – 852HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini853ExtracellularBy similarity1
Transmembranei854 – 873HelicalPROSITE-ProRule annotationAdd BLAST20
Topological domaini874 – 933CytoplasmicBy similarityAdd BLAST60
Transmembranei934 – 956HelicalPROSITE-ProRule annotationAdd BLAST23
Topological domaini957 – 972ExtracellularBy similarityAdd BLAST16
Transmembranei973 – 994HelicalPROSITE-ProRule annotationAdd BLAST22
Topological domaini995 – 1286CytoplasmicBy similarityAdd BLAST292

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, 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

Cholestasis, progressive familial intrahepatic, 3 (PFIC3)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
See also OMIM:602347
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_07373168G → R in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_07373270G → R in PFIC3. 1 Publication1
Natural variantiVAR_073738126G → E in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs1021988376Ensembl.1
Natural variantiVAR_043080138W → R in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552781Ensembl.1
Natural variantiVAR_073740201T → M in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 PublicationCorresponds to variant dbSNP:rs753318087EnsemblClinVar.1
Natural variantiVAR_073741250A → P in PFIC3. 1 Publication1
Natural variantiVAR_043084346S → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs67876345Ensembl.1
Natural variantiVAR_073743357F → L in PFIC3. 1 Publication1
Natural variantiVAR_073744364A → V in PFIC3. 1 Publication1
Natural variantiVAR_043086395E → G in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552777Ensembl.1
Natural variantiVAR_073745403Y → H in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 3 PublicationsCorresponds to variant dbSNP:rs121918443EnsemblClinVar.1
Natural variantiVAR_043087424T → A in PFIC3. 1 Publication1
Natural variantiVAR_043088425V → M in PFIC3. 1 Publication1
Natural variantiVAR_073748459D → H in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_073749475V → A in PFIC3. 1 Publication1
Natural variantiVAR_073750479P → L in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_073751481L → R in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 1 Publication1
Natural variantiVAR_043091535G → D in PFIC3; reduced phosphatidylcholine transporter activity; does not alter plasma membrane location. 2 Publications1
Natural variantiVAR_043093556L → R in PFIC3. 1 Publication1
Natural variantiVAR_073757558E → K in PFIC3. 1 Publication1
Natural variantiVAR_043094564D → G in PFIC3. 1 Publication1
Natural variantiVAR_073759593T → A in PFIC3. 1 Publication1
Natural variantiVAR_073761630M → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs372476723Ensembl.1
Natural variantiVAR_073763701L → P in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs988987669Ensembl.1
Natural variantiVAR_043097711F → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552773Ensembl.1
Natural variantiVAR_073764715T → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs138773456EnsemblClinVar.1
Natural variantiVAR_073765723G → E in PFIC3. 1 Publication1
Natural variantiVAR_073767726P → T in PFIC3. 1 Publication1
Natural variantiVAR_073769737A → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs147134978Ensembl.1
Natural variantiVAR_073770840A → D in PFIC3. 1 Publication1
Natural variantiVAR_073771954G → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs779829759Ensembl.1
Natural variantiVAR_073774978S → P in PFIC3; alters efflux activity for PC. 1 PublicationCorresponds to variant dbSNP:rs1051861187Ensembl.1
Natural variantiVAR_043103983G → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs56187107Ensembl.1
Natural variantiVAR_0737761125E → K in PFIC3; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_0737771193A → T in PFIC3. 1 Publication1
Cholestasis of pregnancy, intrahepatic 3 (ICP3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine.
See also OMIM:614972
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043081150R → K in ICP3. 1 PublicationCorresponds to variant dbSNP:rs757693457Ensembl.1
Natural variantiVAR_023502320S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 PublicationsCorresponds to variant dbSNP:rs72552778EnsemblClinVar.1
Natural variantiVAR_023503546A → D in ICP3; disruption of protein trafficking with subsequent lack of functional protein at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs121918441EnsemblClinVar.1
Natural variantiVAR_043099762G → E in ICP3. 1 Publication1
Gallbladder disease 1 (GBD1)7 Publications
The disease is caused by mutations 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:600803
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07372834T → M in GBD1; reduces efflux activity for PC in a phosphorylation-dependent manner. 2 PublicationsCorresponds to variant dbSNP:rs142794414EnsemblClinVar.1
Natural variantiVAR_07372947R → G in GBD1; partly retained intracellularly; reduces efflux activity for PC in a phosphorylation-dependent manner. 3 Publications1
Natural variantiVAR_07373371L → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs780641693Ensembl.1
Natural variantiVAR_07373578F → C in GBD1. 1 Publication1
Natural variantiVAR_07373699S → F in GBD1. 1 Publication1
Natural variantiVAR_073737124G → S in GBD1. 1 Publication1
Natural variantiVAR_073739154F → S in GBD1. 1 Publication1
Natural variantiVAR_043082165F → I in GBD1. 2 Publications1
Natural variantiVAR_043083301M → T in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552779Ensembl.1
Natural variantiVAR_073746406R → G in GBD1. 1 Publication1
Natural variantiVAR_073752510N → S in GBD1. 1 PublicationCorresponds to variant dbSNP:rs375315619EnsemblClinVar.1
Natural variantiVAR_073754513E → K in GBD1. 1 Publication1
Natural variantiVAR_043090528E → D in GBD1; unknown pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs8187797EnsemblClinVar.1
Natural variantiVAR_079611536G → R in GBD1; loss of phosphatidylcholine transporter activity; does not alter plasma membrane location. 1 Publication1
Natural variantiVAR_073755545R → H in GBD1. 1 Publication1
Natural variantiVAR_073756549R → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs761238221EnsemblClinVar.1
Natural variantiVAR_073758589H → T in GBD1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_043096591L → Q in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552776Ensembl.1
Natural variantiVAR_073760593T → M in GBD1. 1 PublicationCorresponds to variant dbSNP:rs571555115Ensembl.1
Natural variantiVAR_073762647E → K in GBD1. 1 PublicationCorresponds to variant dbSNP:rs972726699Ensembl.1
Natural variantiVAR_073766726P → L in GBD1; loss of phosphatidylcholine transporter activity; does not alter plasma membrane location. 2 PublicationsCorresponds to variant dbSNP:rs141677867EnsemblClinVar.1
Natural variantiVAR_073768729S → L in GBD1. 1 PublicationCorresponds to variant dbSNP:rs970324585Ensembl.1
Natural variantiVAR_073773975L → V in GBD1. 1 PublicationCorresponds to variant dbSNP:rs759787957Ensembl.1
Natural variantiVAR_0737751084R → W in GBD1. 1 Publication1
Natural variantiVAR_0431051161Missing in GBD1. 1
Natural variantiVAR_0235041168P → S in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs121918442EnsemblClinVar.1
Natural variantiVAR_0796121183S → L in GBD1; severely reduced phosphatidylcholine transporter activity; does not alter plasma membrane location. 1 Publication1
Natural variantiVAR_0796131185G → S in GBD1; loss of phosphatidylcholine transporter activity; does not alter plasma membrane location. 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>Mutagenesisi34T → D: Does not inhibit efflux activity for PC. 1 Publication1
Mutagenesisi44T → A: Reduces efflux activity for PC. Does not alter apical membrane location. 1 Publication1
Mutagenesisi49S → A: Reduces efflux activity for PC. Does not alter apical membrane location. 1 Publication1
Mutagenesisi435K → M: Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate. 1 Publication1
Mutagenesisi953A → D: Accumulates predominantly in intracellular compartments with only a small fraction at the plasma membrane and inhibits partially the efflux activity for PC. 1 Publication1
Mutagenesisi1075K → M: Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate. 1 Publication1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNET

More...
DisGeNETi
5244

MalaCards human disease database

More...
MalaCardsi
ABCB4
MIMi600803 phenotype
602347 phenotype
614972 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000005471

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

More...
Orphaneti
69665 Intrahepatic cholestasis of pregnancy
69663 Low phospholipid associated cholelithiasis
79305 Progressive familial intrahepatic cholestasis type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA268

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1743129

Drug and drug target database

More...
DrugBanki
DB01394 Colchicine
DB06414 Etravirine
DB06207 Silodosin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCB4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
126302568

<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_00000933331 – 1286Phosphatidylcholine translocator ABCB4Add BLAST1286

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei27PhosphoserineBy similarity1
Modified residuei34Phosphothreonine1 Publication1
<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>Glycosylationi91N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi97N-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

Phosphorylated (PubMed:24723470). Phosphorylation on Thr-34 is required for PC efflux activity. Phosphorylation occurs on serine and threonine residues in a protein kinase A- or C-dependent manner (PubMed:24723470). May be phosphorylated on Thr-44 and Ser-49 (PubMed:24723470).1 Publication
Glycosylated (PubMed:17523162, PubMed:24723470, PubMed:21820390).3 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P21439

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

More...
PaxDbi
P21439

PeptideAtlas

More...
PeptideAtlasi
P21439

PRoteomics IDEntifications database

More...
PRIDEi
P21439

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53868
53869 [P21439-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P21439

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

More...
PhosphoSitePlusi
P21439

<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 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

Up-regulated by PPARA (PubMed:24122873). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate (at protein level). Up-regulated by bezafibrate (PubMed:15258199). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate, bezafibrate and gemfibrozil (PubMed:24122873).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000005471 Expressed in 125 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_ABCB4

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P21439 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P21439 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049395
HPA053288

<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

May interact with RACK1 (PubMed:19674157). Interacts with HAX1 (By similarity).By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111263, 2 interactors

Protein interaction database and analysis system

More...
IntActi
P21439, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000265723

<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
P21439

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

More...
SMRi
P21439

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>Domaini57 – 359ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST303
Domaini394 – 630ABC transporter 1PROSITE-ProRule annotationAdd BLAST237
Domaini711 – 999ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST289
Domaini1034 – 1279ABC transporter 2PROSITE-ProRule annotationAdd BLAST246

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni625 – 647Interaction with HAX1By similarityAdd BLAST23

<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

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0055 Eukaryota
COG1132 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159418

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG080809

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P21439

KEGG Orthology (KO)

More...
KOi
K05659

Identification of Orthologs from Complete Genome Data

More...
OMAi
AFYMQRT

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0HVA

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P21439

TreeFam database of animal gene trees

More...
TreeFami
TF105193

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR030275 MDR3
IPR027417 P-loop_NTPase
IPR039421 Type_I_exporter

The PANTHER Classification System

More...
PANTHERi
PTHR24221 PTHR24221, 1 hit
PTHR24221:SF241 PTHR24221:SF241, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

<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 (3+)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 3 <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 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P21439-1) [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
MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD
60 70 80 90 100
WQDKLFMSLG TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL
110 120 130 140 150
SLLNPGKILE EEMTRYAYYY SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR
160 170 180 190 200
QKFFHAILRQ EIGWFDINDT TELNTRLTDD ISKISEGIGD KVGMFFQAVA
210 220 230 240 250
TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA FSDKELAAYA
260 270 280 290 300
KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
310 320 330 340 350
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA
360 370 380 390 400
APCIDAFANA RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH
410 420 430 440 450
FSYPSRANVK ILKGLNLKVQ SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE
460 470 480 490 500
GTINIDGQDI RNFNVNYLRE IIGVVSQEPV LFSTTIAENI CYGRGNVTMD
510 520 530 540 550
EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR IAIARALVRN
560 570 580 590 600
PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
610 620 630 640 650
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA
660 670 680 690 700
TRMAPNGWKS RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV
710 720 730 740 750
LKLNKTEWPY FVVGTVCAIA NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK
760 770 780 790 800
CNIFSLIFLF LGIISFFTFF LQGFTFGKAG EILTRRLRSM AFKAMLRQDM
810 820 830 840 850
SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA NLGTGIIISF
860 870 880 890 900
IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
910 920 930 940 950
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF
960 970 980 990 1000
SYAGCFRFGA YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA
1010 1020 1030 1040 1050
KLSAAHLFML FERQPLIDSY SEEGLKPDKF EGNITFNEVV FNYPTRANVP
1060 1070 1080 1090 1100
VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ LLERFYDPLA GTVFVDFGFQ
1110 1120 1130 1140 1150
LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG DNSRVVSQDE
1160 1170 1180 1190 1200
IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP
1210 1220 1230 1240 1250
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV
1260 1270 1280
VFQNGRVKEH GTHQQLLAQK GIYFSMVSVQ AGTQNL
Length:1,286
Mass (Da):141,523
Last modified:February 20, 2007 - 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:i9A9066F2292F2CCF
GO
Isoform 2 (identifier: P21439-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1094-1100: Missing.

Show »
Length:1,279
Mass (Da):140,682
Checksum:i3D58C98B5C8D6087
GO
Isoform 3 (identifier: P21439-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     929-975: Missing.
     1094-1100: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:1,232
Mass (Da):135,259
Checksum:i48626DBEDA98930C
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 are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y8A1A0A2R8Y8A1_HUMAN
Phosphatidylcholine translocator AB...
ABCB4
264Annotation 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>
A0A2R8Y291A0A2R8Y291_HUMAN
Phosphatidylcholine translocator AB...
ABCB4
183Annotation 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>
H7C0M2H7C0M2_HUMAN
Phosphatidylcholine translocator AB...
ABCB4
99Annotation 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>
E7EQI1E7EQI1_HUMAN
Phosphatidylcholine translocator AB...
ABCB4
61Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA84542 differs from that shown. Probable cloning artifact.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07372834T → M in GBD1; reduces efflux activity for PC in a phosphorylation-dependent manner. 2 PublicationsCorresponds to variant dbSNP:rs142794414EnsemblClinVar.1
Natural variantiVAR_07372947R → G in GBD1; partly retained intracellularly; reduces efflux activity for PC in a phosphorylation-dependent manner. 3 Publications1
Natural variantiVAR_07373047R → Q Found in patients with cholangitis; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372685632EnsemblClinVar.1
Natural variantiVAR_07373168G → R in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_07373270G → R in PFIC3. 1 Publication1
Natural variantiVAR_07373371L → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs780641693Ensembl.1
Natural variantiVAR_07373473L → V in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs8187788EnsemblClinVar.1
Natural variantiVAR_07373578F → C in GBD1. 1 Publication1
Natural variantiVAR_04307887D → E1 Publication1
Natural variantiVAR_04307995P → S1 PublicationCorresponds to variant dbSNP:rs377268767Ensembl.1
Natural variantiVAR_07373699S → F in GBD1. 1 Publication1
Natural variantiVAR_073737124G → S in GBD1. 1 Publication1
Natural variantiVAR_073738126G → E in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs1021988376Ensembl.1
Natural variantiVAR_043080138W → R in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552781Ensembl.1
Natural variantiVAR_043081150R → K in ICP3. 1 PublicationCorresponds to variant dbSNP:rs757693457Ensembl.1
Natural variantiVAR_073739154F → S in GBD1. 1 Publication1
Natural variantiVAR_043082165F → I in GBD1. 2 Publications1
Natural variantiVAR_023501175T → A Found in patients with gallbladder and cholestasis; unknown pathological significance. 8 PublicationsCorresponds to variant dbSNP:rs58238559EnsemblClinVar.1
Natural variantiVAR_073740201T → M in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 PublicationCorresponds to variant dbSNP:rs753318087EnsemblClinVar.1
Natural variantiVAR_020223238L → V1 PublicationCorresponds to variant dbSNP:rs45596335EnsemblClinVar.1
Natural variantiVAR_073741250A → P in PFIC3. 1 Publication1
Natural variantiVAR_030763263I → V1 PublicationCorresponds to variant dbSNP:rs45547936Ensembl.1
Natural variantiVAR_073742286A → V in PFIC3 and GBD1; does not alter plasma membrane location; inhibits efflux activity for PC. 4 PublicationsCorresponds to variant dbSNP:rs765478923Ensembl.1
Natural variantiVAR_043083301M → T in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552779Ensembl.1
Natural variantiVAR_023502320S → F in ICP3, GBD1 and PFIC3; unknown pathological significance; does not alter plasma membrane location; does not inhibit efflux activity for PC. 8 PublicationsCorresponds to variant dbSNP:rs72552778EnsemblClinVar.1
Natural variantiVAR_043084346S → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs67876345Ensembl.1
Natural variantiVAR_073743357F → L in PFIC3. 1 Publication1
Natural variantiVAR_073744364A → V in PFIC3. 1 Publication1
Natural variantiVAR_043085367I → V1 PublicationCorresponds to variant dbSNP:rs1168923653Ensembl.1
Natural variantiVAR_043086395E → G in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552777Ensembl.1
Natural variantiVAR_073745403Y → H in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 3 PublicationsCorresponds to variant dbSNP:rs121918443EnsemblClinVar.1
Natural variantiVAR_073746406R → G in GBD1. 1 Publication1
Natural variantiVAR_073747406R → Q Found in patients with cholangitis; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763807769Ensembl.1
Natural variantiVAR_043087424T → A in PFIC3. 1 Publication1
Natural variantiVAR_043088425V → M in PFIC3. 1 Publication1
Natural variantiVAR_043089450E → G1 Publication1
Natural variantiVAR_073748459D → H in PFIC3; retained in the reticulum endoplasmic; greatly reduced expression. 1 Publication1
Natural variantiVAR_073749475V → A in PFIC3. 1 Publication1
Natural variantiVAR_073750479P → L in PFIC3; greatly reduced expression; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_073751481L → R in PFIC3; does not alter cytoplasmic and cell membrane location; inhibits efflux activity for PC and cholesterol. 1 Publication1
Natural variantiVAR_073752510N → S in GBD1. 1 PublicationCorresponds to variant dbSNP:rs375315619EnsemblClinVar.1
Natural variantiVAR_073753511A → T in PFIC3 and GBD1. 2 Publications1
Natural variantiVAR_073754513E → K in GBD1. 1 Publication1
Natural variantiVAR_043090528E → D in GBD1; unknown pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs8187797EnsemblClinVar.1
Natural variantiVAR_043091535G → D in PFIC3; reduced phosphatidylcholine transporter activity; does not alter plasma membrane location. 2 Publications1
Natural variantiVAR_079611536G → R in GBD1; loss of phosphatidylcholine transporter activity; does not alter plasma membrane location. 1 Publication1
Natural variantiVAR_043092541I → F in PFIC3 and GBD1. 2 PublicationsCorresponds to variant dbSNP:rs66904256Ensembl.1
Natural variantiVAR_073755545R → H in GBD1. 1 Publication1
Natural variantiVAR_023503546A → D in ICP3; disruption of protein trafficking with subsequent lack of functional protein at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs121918441EnsemblClinVar.1
Natural variantiVAR_073756549R → H in GBD1. 1 PublicationCorresponds to variant dbSNP:rs761238221EnsemblClinVar.1
Natural variantiVAR_043093556L → R in PFIC3. 1 Publication1
Natural variantiVAR_073757558E → K in PFIC3. 1 Publication1
Natural variantiVAR_043094564D → G in PFIC3. 1 Publication1
Natural variantiVAR_073758589H → T in GBD1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_043095590R → Q Found in patients with gallbladder and cholestasis; unknown pathological significance. 7 PublicationsCorresponds to variant dbSNP:rs45575636EnsemblClinVar.1
Natural variantiVAR_043096591L → Q in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs72552776Ensembl.1
Natural variantiVAR_073759593T → A in PFIC3. 1 Publication1
Natural variantiVAR_073760593T → M in GBD1. 1 PublicationCorresponds to variant dbSNP:rs571555115Ensembl.1
Natural variantiVAR_073761630M → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs372476723Ensembl.1
Natural variantiVAR_073762647E → K in GBD1. 1 PublicationCorresponds to variant dbSNP:rs972726699Ensembl.1
Natural variantiVAR_030765651T → N1 PublicationCorresponds to variant dbSNP:rs45476795Ensembl.1
Natural variantiVAR_020225652R → G9 PublicationsCorresponds to variant dbSNP:rs2230028EnsemblClinVar.1
Natural variantiVAR_073763701L → P in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs988987669Ensembl.1
Natural variantiVAR_043097711F → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs72552773Ensembl.1
Natural variantiVAR_073764715T → I in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs138773456EnsemblClinVar.1
Natural variantiVAR_073765723G → E in PFIC3. 1 Publication1
Natural variantiVAR_073766726P → L in GBD1; loss of phosphatidylcholine transporter activity; does not alter plasma membrane location. 2 PublicationsCorresponds to variant dbSNP:rs141677867EnsemblClinVar.1
Natural variantiVAR_073767726P → T in PFIC3. 1 Publication1
Natural variantiVAR_073768729S → L in GBD1. 1 PublicationCorresponds to variant dbSNP:rs970324585Ensembl.1
Natural variantiVAR_073769737A → V in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs147134978Ensembl.1
Natural variantiVAR_043098742G → S1 Publication1
Natural variantiVAR_043099762G → E in ICP3. 1 Publication1
Natural variantiVAR_043100764I → L in a heterozygous patient with risperidone-induced cholestasis. 1 Publication1
Natural variantiVAR_043101775T → M Found in patients with cholangitis; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs148052192Ensembl.1
Natural variantiVAR_024359788R → Q Found in patients with gallbladder and cholestasis; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs8187801EnsemblClinVar.1
Natural variantiVAR_073770840A → D in PFIC3. 1 Publication1
Natural variantiVAR_043102934A → T Found in patients with gallbladder and cholestasis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61730509EnsemblClinVar.1
Natural variantiVAR_073771954G → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs779829759Ensembl.1
Natural variantiVAR_073772964V → T Requires 2 nucleotide substitutions; found in patients with cholangitis; unknown pathological significance. 1 Publication1
Natural variantiVAR_073773975L → V in GBD1. 1 PublicationCorresponds to variant dbSNP:rs759787957Ensembl.1
Natural variantiVAR_073774978S → P in PFIC3; alters efflux activity for PC. 1 PublicationCorresponds to variant dbSNP:rs1051861187Ensembl.1
Natural variantiVAR_043103983G → S in PFIC3. 1 PublicationCorresponds to variant dbSNP:rs56187107Ensembl.1
Natural variantiVAR_0431041082L → Q in a heterozygous patient with amoxicillin/clavulanic acid-induced cholestasis. 1 PublicationCorresponds to variant dbSNP:rs1214110864Ensembl.1
Natural variantiVAR_0737751084R → W in GBD1. 1 Publication1
Natural variantiVAR_0737761125E → K in PFIC3; alters efflux activity for PC. 1 Publication1
Natural variantiVAR_0431051161Missing in GBD1. 1
Natural variantiVAR_0235041168P → S in GBD1. 2 PublicationsCorresponds to variant dbSNP:rs121918442EnsemblClinVar.1
Natural variantiVAR_0796121183S → L in GBD1; severely reduced phosphatidylcholine transporter activity; does not alter plasma membrane location. 1 Publication1
Natural variantiVAR_0796131185G → S in GBD1; loss of phosphatidylcholine transporter activity; does not alter plasma membrane location. 1 Publication1
Natural variantiVAR_0737771193A → T in PFIC3. 1 Publication1

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_046258929 – 975Missing in isoform 3. CuratedAdd BLAST47
Alternative sequenceiVSP_0232631094 – 1100Missing in isoform 2 and isoform 3. 1 Publication7

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
M23234 mRNA Translation: AAA36207.1
EF034088 Genomic DNA Translation: ABJ53424.1
AC005045 Genomic DNA No translation available.
AC005068 Genomic DNA No translation available.
AC006154 Genomic DNA No translation available.
CH236949 Genomic DNA Translation: EAL24174.1
CH236949 Genomic DNA Translation: EAL24175.1
CH236949 Genomic DNA Translation: EAL24176.1
CH471091 Genomic DNA Translation: EAW76946.1
CH471091 Genomic DNA Translation: EAW76947.1
CH471091 Genomic DNA Translation: EAW76948.1
CH471091 Genomic DNA Translation: EAW76950.1
CH471091 Genomic DNA Translation: EAW76951.1
CH471091 Genomic DNA Translation: EAW76952.1
Z35284 mRNA Translation: CAA84542.1 Sequence problems.
X06181 mRNA Translation: CAA29547.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5605.1 [P21439-2]
CCDS5606.1 [P21439-1]
CCDS5607.1 [P21439-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
JS0051 DVHU3

NCBI Reference Sequences

More...
RefSeqi
NP_000434.1, NM_000443.3 [P21439-2]
NP_061337.1, NM_018849.2 [P21439-1]
NP_061338.1, NM_018850.2 [P21439-3]
XP_011514615.1, XM_011516313.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.654403

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265723; ENSP00000265723; ENSG00000005471 [P21439-1]
ENST00000358400; ENSP00000351172; ENSG00000005471 [P21439-3]
ENST00000359206; ENSP00000352135; ENSG00000005471 [P21439-2]
ENST00000453593; ENSP00000392983; ENSG00000005471 [P21439-3]
ENST00000649586; ENSP00000496956; ENSG00000005471 [P21439-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5244

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5244

UCSC genome browser

More...
UCSCi
uc003uiv.2 human [P21439-1]

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

NIEHS-SNPs
ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M23234 mRNA Translation: AAA36207.1
EF034088 Genomic DNA Translation: ABJ53424.1
AC005045 Genomic DNA No translation available.
AC005068 Genomic DNA No translation available.
AC006154 Genomic DNA No translation available.
CH236949 Genomic DNA Translation: EAL24174.1
CH236949 Genomic DNA Translation: EAL24175.1
CH236949 Genomic DNA Translation: EAL24176.1
CH471091 Genomic DNA Translation: EAW76946.1
CH471091 Genomic DNA Translation: EAW76947.1
CH471091 Genomic DNA Translation: EAW76948.1
CH471091 Genomic DNA Translation: EAW76950.1
CH471091 Genomic DNA Translation: EAW76951.1
CH471091 Genomic DNA Translation: EAW76952.1
Z35284 mRNA Translation: CAA84542.1 Sequence problems.
X06181 mRNA Translation: CAA29547.1
CCDSiCCDS5605.1 [P21439-2]
CCDS5606.1 [P21439-1]
CCDS5607.1 [P21439-3]
PIRiJS0051 DVHU3
RefSeqiNP_000434.1, NM_000443.3 [P21439-2]
NP_061337.1, NM_018849.2 [P21439-1]
NP_061338.1, NM_018850.2 [P21439-3]
XP_011514615.1, XM_011516313.2
UniGeneiHs.654403

3D structure databases

ProteinModelPortaliP21439
SMRiP21439
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111263, 2 interactors
IntActiP21439, 3 interactors
STRINGi9606.ENSP00000265723

Chemistry databases

ChEMBLiCHEMBL1743129
DrugBankiDB01394 Colchicine
DB06414 Etravirine
DB06207 Silodosin
SwissLipidsiSLP:000000384

Protein family/group databases

TCDBi3.A.1.201.3 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiP21439
PhosphoSitePlusiP21439

Polymorphism and mutation databases

BioMutaiABCB4
DMDMi126302568

Proteomic databases

MaxQBiP21439
PaxDbiP21439
PeptideAtlasiP21439
PRIDEiP21439
ProteomicsDBi53868
53869 [P21439-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265723; ENSP00000265723; ENSG00000005471 [P21439-1]
ENST00000358400; ENSP00000351172; ENSG00000005471 [P21439-3]
ENST00000359206; ENSP00000352135; ENSG00000005471 [P21439-2]
ENST00000453593; ENSP00000392983; ENSG00000005471 [P21439-3]
ENST00000649586; ENSP00000496956; ENSG00000005471 [P21439-2]
GeneIDi5244
KEGGihsa:5244
UCSCiuc003uiv.2 human [P21439-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5244
DisGeNETi5244
EuPathDBiHostDB:ENSG00000005471.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ABCB4
HGNCiHGNC:45 ABCB4
HPAiHPA049395
HPA053288
MalaCardsiABCB4
MIMi171060 gene
600803 phenotype
602347 phenotype
614972 phenotype
neXtProtiNX_P21439
OpenTargetsiENSG00000005471
Orphaneti69665 Intrahepatic cholestasis of pregnancy
69663 Low phospholipid associated cholelithiasis
79305 Progressive familial intrahepatic cholestasis type 3
PharmGKBiPA268

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0055 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00940000159418
HOVERGENiHBG080809
InParanoidiP21439
KOiK05659
OMAiAFYMQRT
OrthoDBiEOG091G0HVA
PhylomeDBiP21439
TreeFamiTF105193

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678771 Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1
SIGNORiP21439

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ABCB4

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

More...
GenomeRNAii
5244

Protein Ontology

More...
PROi
PR:P21439

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000005471 Expressed in 125 organ(s), highest expression level in right lobe of liver
CleanExiHS_ABCB4
ExpressionAtlasiP21439 baseline and differential
GenevisibleiP21439 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR030275 MDR3
IPR027417 P-loop_NTPase
IPR039421 Type_I_exporter
PANTHERiPTHR24221 PTHR24221, 1 hit
PTHR24221:SF241 PTHR24221:SF241, 1 hit
PfamiView protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART