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ABCB4 ATP binding cassette subfamily B member 4 [ Homo sapiens (human) ]

Gene ID: 5244, updated on 1-Jun-2020

Summary

Official Symbol
ABCB4provided by HGNC
Official Full Name
ATP binding cassette subfamily B member 4provided by HGNC
Primary source
HGNC:HGNC:45
See related
Ensembl:ENSG00000005471 MIM:171060
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GBD1; ICP3; MDR2; MDR3; PGY3; ABC21; MDR2/3; PFIC-3
Summary
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 23.8), adrenal (RPKM 3.1) and 3 other tissues See more
Orthologs

Genomic context

See ABCB4 in Genome Data Viewer
Location:
7q21.12
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (87398988..87476722, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87031361..87105019, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375384 Neighboring gene transmembrane protein 243 Neighboring gene TP53 target 1 Neighboring gene carnitine O-octanoyltransferase Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene ATP binding cassette subfamily B member 1 Neighboring gene RUN domain containing 3B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cholestasis, intrahepatic, of pregnancy 3
MedGen: C3554241 OMIM: 614972 GeneReviews: Not available
Compare labs
Gallbladder disease 1
MedGen: C2609268 OMIM: 600803 GeneReviews: Not available
Compare labs
Progressive familial intrahepatic cholestasis 3
MedGen: C1865643 OMIM: 602347 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Treatment of CD4+ and CD8+ T cells with HIV-1 gp120 increases the intracellular expression of P-glycoprotein (P-gp) PubMed
Tat tat Disruption of lipid rafts by depletion of membrane cholesterol with methyl-beta-cyclodextrin abolishes Tat-mediated RhoA activation and P-glycoprotein (P-gp) upregulation PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT ceramide-translocating ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine-translocating ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine-translocating ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine-translocating ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid transporter activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bile acid secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to bile acid IDA
Inferred from Direct Assay
more info
PubMed 
NOT ceramide translocation IDA
Inferred from Direct Assay
more info
PubMed 
lipid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid translocation IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid translocation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phospholipid translocation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phospholipid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
response to fenofibrate ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intercellular canaliculus IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphatidylcholine translocator ABCB4
Names
ATP-binding cassette sub-family B member 4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
P-glycoprotein 3
P-glycoprotein-3/multiple drug resistance-3
multidrug resistance protein 3
multiple drug resistance 3
NP_000434.1
NP_061337.1
NP_061338.1
XP_011514610.3
XP_011514611.3
XP_011514612.3
XP_011514613.3
XP_011514614.3
XP_011514615.2
XP_011514617.2
XP_016867812.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007118.2 RefSeqGene

    Range
    9753..83737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000443.4NP_000434.1  phosphatidylcholine translocator ABCB4 isoform A

    See identical proteins and their annotated locations for NP_000434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) encodes the predominant isoform (A).
    Source sequence(s)
    AC005045, AC005068, AC006154
    Consensus CDS
    CCDS5605.1
    UniProtKB/Swiss-Prot
    P21439
    Related
    ENSP00000496956.1, ENST00000649586.1
    Conserved Domains (3) summary
    cd03249
    Location:395631
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:181266
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:61345
    ABC_membrane; ABC transporter transmembrane region
  2. NM_018849.3NP_061337.1  phosphatidylcholine translocator ABCB4 isoform B

    See identical proteins and their annotated locations for NP_061337.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) uses an alternate in-frame splice site in the 3' coding region, compared to variant A, resulting in a longer protein (isoform B).
    Source sequence(s)
    AC005045, AC005068, AC006154
    Consensus CDS
    CCDS5606.1
    UniProtKB/Swiss-Prot
    P21439
    Related
    ENSP00000265723.4, ENST00000265723.8
    Conserved Domains (3) summary
    cd03249
    Location:395631
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:181273
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:61345
    ABC_membrane; ABC transporter transmembrane region
  3. NM_018850.2NP_061338.1  phosphatidylcholine translocator ABCB4 isoform C

    See identical proteins and their annotated locations for NP_061338.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) lacks an alternate in-frame exon, compared to variant A, resulting in a shorter protein (isoform C).
    Source sequence(s)
    AC005045, AC005068, AC006154
    Consensus CDS
    CCDS5607.1
    UniProtKB/Swiss-Prot
    P21439
    Related
    ENSP00000351172.3, ENST00000358400.7
    Conserved Domains (3) summary
    cd03249
    Location:395631
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:181219
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:61345
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    87398988..87476722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516310.3XP_011514612.3  phosphatidylcholine translocator ABCB4 isoform X3

    Conserved Domains (1) summary
    cl28181
    Location:1081334
    AAA; ATPases associated with a variety of cellular activities
  2. XM_011516311.3XP_011514613.3  phosphatidylcholine translocator ABCB4 isoform X4

    Conserved Domains (1) summary
    cl28181
    Location:1081326
    AAA; ATPases associated with a variety of cellular activities
  3. XM_011516308.3XP_011514610.3  phosphatidylcholine translocator ABCB4 isoform X1

    Conserved Domains (1) summary
    cl28181
    Location:1081369
    AAA; ATPases associated with a variety of cellular activities
  4. XM_011516312.3XP_011514614.3  phosphatidylcholine translocator ABCB4 isoform X5

    Conserved Domains (1) summary
    cl28181
    Location:1081322
    AAA; ATPases associated with a variety of cellular activities
  5. XM_011516309.3XP_011514611.3  phosphatidylcholine translocator ABCB4 isoform X2

    Conserved Domains (1) summary
    cl28181
    Location:1081362
    AAA; ATPases associated with a variety of cellular activities
  6. XM_017012323.2XP_016867812.1  phosphatidylcholine translocator ABCB4 isoform X7

  7. XM_011516315.3XP_011514617.2  phosphatidylcholine translocator ABCB4 isoform X8

  8. XM_011516313.3XP_011514615.2  phosphatidylcholine translocator ABCB4 isoform X6

    Conserved Domains (1) summary
    cl28181
    Location:1081309
    AAA; ATPases associated with a variety of cellular activities

RNA

  1. XR_001744809.2 RNA Sequence

  2. XR_001744810.2 RNA Sequence

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