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

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; 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

Location:: 7q21.12

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (87365896..87476027, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (88615509..88726299, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (87031012..87104996, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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).
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Cholestasis, intrahepatic, of pregnancy, 3 MedGen: C3554241 OMIM: 614972 GeneReviews: Not available	Compare labs
Low phospholipid associated cholelithiasis MedGen: C2609268 OMIM: 600803 GeneReviews: Not available	Compare labs
Progressive familial intrahepatic cholestasis type 3 MedGen: C1865643 OMIM: 602347 GeneReviews: Pediatric Genetic Cholestatic Liver Disease Overview	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-04-16) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-04-16) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

RH17678 (e-PCR)
- UniSTS:4896

G20448 (e-PCR)
- UniSTS:34352

A005R35 (e-PCR)
- UniSTS:34353

D7S2163E (e-PCR)
- UniSTS:151152

SHGC-80903 (e-PCR)
- UniSTS:102542

G20675 (e-PCR)
- UniSTS:11201

A006B20 (e-PCR)
- UniSTS:11202

PGY3 (e-PCR)
- UniSTS:16582

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
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
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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 more info	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
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

EC 7.6.2.1

NP_061337.1

EC 7.6.2.1

NP_061338.1

EC 7.6.2.1

XP_011514610.4

EC 7.6.2.1

XP_011514611.4

EC 7.6.2.1

XP_047276431.1

EC 7.6.2.1

XP_047276432.1

EC 7.6.2.1

XP_047276433.1

EC 7.6.2.1

XP_054214377.1

EC 7.6.2.1

XP_054214378.1

EC 7.6.2.1

XP_054214379.1

EC 7.6.2.1

XP_054214380.1

EC 7.6.2.1

XP_054214381.1

EC 7.6.2.1

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

NG_007118.3 RefSeqGene

Range

5347..79331

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

87365896..87476027 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516309.4 → XP_011514611.4 phosphatidylcholine translocator ABCB4 isoform X4
XM_011516308.4 → XP_011514610.4 phosphatidylcholine translocator ABCB4 isoform X3
XM_047420476.1 → XP_047276432.1 phosphatidylcholine translocator ABCB4 isoform X2
XM_047420475.1 → XP_047276431.1 phosphatidylcholine translocator ABCB4 isoform X1
XM_047420477.1 → XP_047276433.1 phosphatidylcholine translocator ABCB4 isoform X5

RNA

XR_007060054.1 RNA Sequence
XR_007060047.1 RNA Sequence
XR_007060046.1 RNA Sequence
XR_007060050.1 RNA Sequence
XR_007060049.1 RNA Sequence
XR_007060048.1 RNA Sequence
XR_007060045.1 RNA Sequence
XR_007060052.1 RNA Sequence
XR_007060053.1 RNA Sequence
XR_007060051.1 RNA Sequence
XR_007060055.1 RNA Sequence
XR_001744810.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

88615509..88726299 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358403.1 → XP_054214378.1 phosphatidylcholine translocator ABCB4 isoform X7
XM_054358402.1 → XP_054214377.1 phosphatidylcholine translocator ABCB4 isoform X6
XM_054358405.1 → XP_054214380.1 phosphatidylcholine translocator ABCB4 isoform X2
XM_054358404.1 → XP_054214379.1 phosphatidylcholine translocator ABCB4 isoform X1
XM_054358406.1 → XP_054214381.1 phosphatidylcholine translocator ABCB4 isoform X8