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

Gene ID: 5244, updated on 22-Apr-2024

Summary

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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; AllianceGenome:HGNC:45
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
all
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Genomic context

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Location:
7q21.12
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (87365896..87476027, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (88615509..88726299, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87031012..87104996, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375384 Neighboring gene NANOG hESC enhancer GRCh37_chr7:86830979-86831516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18345 Neighboring gene transmembrane protein 243 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:86959096-86960295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18346 Neighboring gene TP53 target 1 Neighboring gene carnitine O-octanoyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18349 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 Neighboring gene ATP binding cassette subfamily B member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:87218704-87219204 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:87228303-87229502 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures. Chen R, et al. Orphanet J Rare Dis, 2022 Dec 22. PMID 36550572, Free PMC Article
  2. A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients. Kruk B, et al. Orphanet J Rare Dis, 2022 Nov 17. PMID 36397154, Free PMC Article
  3. Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis. Wang HH, et al. Genes (Basel), 2022 Jun 11. PMID 35741809, Free PMC Article
  4. ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease. Sinha A, et al. Dig Dis Sci, 2022 Dec. PMID 35288833
  5. Mdr3 gene mutation in preterm infants with parenteral nutrition-associated cholestasis. Yang X, et al. Mol Genet Genomic Med, 2022 Mar. PMID 35150476, Free PMC Article

See all (166) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
    Title: Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
  2. Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
    Title: Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
  3. A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.
    Title: A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.
  4. MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis.
    Title: MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis.
  5. Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC).
    Title: Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC).
  6. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
    Title: Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
  7. A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients.
    Title: A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients.
  8. ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
    Title: ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
  9. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
    Title: Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
  10. Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
    Title: Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Submit: New GeneRIF Correction See all GeneRIFs (138)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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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_011514610.4
XP_011514611.4
XP_047276431.1
XP_047276432.1
XP_047276433.1
XP_054214377.1
XP_054214378.1
XP_054214379.1
XP_054214380.1
XP_054214381.1

NCBI Reference Sequences (RefSeq)

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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_007118.3 RefSeqGene

    Range
    5347..79331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000443.4 → NP_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/TrEMBL
    Q4G0Q4
    Related
    ENSP00000496956.2, ENST00000649586.2
    Conserved Domains (1) summary
    PTZ00265
    Location:18 → 1266
    PTZ00265; multidrug resistance protein (mdr1); Provisional

  2. NM_018849.3 → NP_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
    A0A2V7, A4D1D3, A4D1D4, A4D1D5, D6W5P3, D6W5P4, P21439, Q14813
    UniProtKB/TrEMBL
    Q4G0Q4
    Related
    ENSP00000265723.4, ENST00000265723.8
    Conserved Domains (3) summary
    cd03249
    Location:395 → 631
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:18 → 1273
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:61 → 345
    ABC_membrane; ABC transporter transmembrane region

  3. NM_018850.3 → NP_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/TrEMBL
    Q4G0Q4
    Related
    ENSP00000392983.1, ENST00000453593.5
    Conserved Domains (3) summary
    cd03249
    Location:395 → 631
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:18 → 1219
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:61 → 345
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    87365896..87476027 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516309.4 → XP_011514611.4  phosphatidylcholine translocator ABCB4 isoform X4

  2. XM_011516308.4 → XP_011514610.4  phosphatidylcholine translocator ABCB4 isoform X3

  3. XM_047420476.1 → XP_047276432.1  phosphatidylcholine translocator ABCB4 isoform X2

  4. XM_047420475.1 → XP_047276431.1  phosphatidylcholine translocator ABCB4 isoform X1

  5. XM_047420477.1 → XP_047276433.1  phosphatidylcholine translocator ABCB4 isoform X5

RNA

  1. XR_007060054.1 RNA Sequence

  2. XR_007060047.1 RNA Sequence

  3. XR_007060046.1 RNA Sequence

  4. XR_007060050.1 RNA Sequence

  5. XR_007060049.1 RNA Sequence

  6. XR_007060048.1 RNA Sequence

  7. XR_007060045.1 RNA Sequence

  8. XR_007060052.1 RNA Sequence

  9. XR_007060053.1 RNA Sequence

  10. XR_007060051.1 RNA Sequence

  11. XR_007060055.1 RNA Sequence

  12. XR_001744810.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    88615509..88726299 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358403.1 → XP_054214378.1  phosphatidylcholine translocator ABCB4 isoform X7

  2. XM_054358402.1 → XP_054214377.1  phosphatidylcholine translocator ABCB4 isoform X6

  3. XM_054358405.1 → XP_054214380.1  phosphatidylcholine translocator ABCB4 isoform X2

  4. XM_054358404.1 → XP_054214379.1  phosphatidylcholine translocator ABCB4 isoform X1

  5. XM_054358406.1 → XP_054214381.1  phosphatidylcholine translocator ABCB4 isoform X8

RNA

  1. XR_008487639.1 RNA Sequence

  2. XR_008487632.1 RNA Sequence

  3. XR_008487631.1 RNA Sequence

  4. XR_008487635.1 RNA Sequence

  5. XR_008487634.1 RNA Sequence

  6. XR_008487633.1 RNA Sequence

  7. XR_008487630.1 RNA Sequence

  8. XR_008487637.1 RNA Sequence

  9. XR_008487638.1 RNA Sequence

  10. XR_008487636.1 RNA Sequence

  11. XR_008487640.1 RNA Sequence

  12. XR_008487641.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P21439.2 GenPept UniProtKB/Swiss-Prot:P21439

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