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ABCC4 ATP binding cassette subfamily C member 4 [ Homo sapiens (human) ]

Gene ID: 10257, updated on 22-Aug-2021

Summary

Official Symbol
ABCC4provided by HGNC
Official Full Name
ATP binding cassette subfamily C member 4provided by HGNC
Primary source
HGNC:HGNC:55
See related
Ensembl:ENSG00000125257 MIM:605250
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
MRP4; MOATB; MOAT-B
Summary
The 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 MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Expression
Broad expression in prostate (RPKM 22.4), urinary bladder (RPKM 9.3) and 16 other tissues See more
Orthologs
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Genomic context

See ABCC4 in Genome Data Viewer
Location:
13q32.1
Exon count:
36
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (95019835..95301451, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (95672089..95953705, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancers hs189 and hs341 Neighboring gene RNA, U6 small nuclear 62, pseudogene Neighboring gene small nucleolar RNA, C/D box 13G Neighboring gene uncharacterized LOC102724149 Neighboring gene RNY3 pseudogene 8 Neighboring gene RNY4 pseudogene 27

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
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
GeneReviews: Not available
A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
GeneReviews: Not available
Joint influence of small-effect genetic variants on human longevity.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • EST170205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 15-hydroxyprostaglandin dehydrogenase (NAD+) activity NAS
Non-traceable Author Statement
more info
PubMed 
enables ABC-type bile acid transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ABC-type glutathione S-conjugate transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ABC-type xenobiotic transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled inorganic anion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables P-type ion transporter activity TAS
Traceable Author Statement
more info
 
enables efflux transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables glutathione transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables guanine nucleotide transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables prostaglandin transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables purine nucleotide transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables urate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables xenobiotic transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables xenobiotic transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in bile acid and bile salt transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in bile acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cAMP transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cAMP transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in export across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glutathione transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in guanine nucleotide transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in leukotriene transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in platelet degranulation TAS
Traceable Author Statement
more info
 
involved_in positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within prostaglandin secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in prostaglandin transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
involved_in response to organonitrogen compound IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in urate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in xenobiotic transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in external side of apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in platelet dense granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in platelet dense granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-binding cassette sub-family C member 4
Names
MRP/cMOAT-related ABC transporter
bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)
canalicular multispecific organic anion transporter (ABC superfamily)
multi-specific organic anion transporter B
multidrug resistance-associated protein 4
NP_001098985.1
NP_001288758.1
NP_001288759.1
NP_005836.2
XP_005254082.1
XP_016875808.1
XP_016875809.1
XP_016875810.1
XP_016875811.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_050651.2 RefSeqGene

    Range
    4996..286612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1183

mRNA and Protein(s)

  1. NM_001105515.3NP_001098985.1  ATP-binding cassette sub-family C member 4 isoform 2

    See identical proteins and their annotated locations for NP_001098985.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AK290317, AL356257, BC041560, BX113883, CN410193
    Consensus CDS
    CCDS45061.1
    UniProtKB/Swiss-Prot
    O15439
    UniProtKB/TrEMBL
    A8K2Q2
    Related
    ENSP00000487081.1, ENST00000629385.1
    Conserved Domains (3) summary
    cd03250
    Location:410610
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    COG1132
    Location:90633
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    cl00549
    Location:96365
    ABC_membrane; ABC transporter transmembrane region
  2. NM_001301829.2NP_001288758.1  ATP-binding cassette sub-family C member 4 isoform 3

    See identical proteins and their annotated locations for NP_001288758.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AL139381, AL157818, AL356257
    Consensus CDS
    CCDS86356.1
    UniProtKB/Swiss-Prot
    O15439
    UniProtKB/TrEMBL
    A8K2Q2
    Related
    ENSP00000494751.1, ENST00000646439.1
    Conserved Domains (5) summary
    cd03244
    Location:9921211
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:410610
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:111222
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:677944
    ABC_membrane; ABC transporter transmembrane region
    cl00549
    Location:96365
    ABC_membrane; ABC transporter transmembrane region
  3. NM_001301830.2NP_001288759.1  ATP-binding cassette sub-family C member 4 isoform 4

    See identical proteins and their annotated locations for NP_001288759.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, and also lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AK290317, AK296247, AL356257, BX113883, CN410193
    Consensus CDS
    CCDS76643.1
    UniProtKB/Swiss-Prot
    O15439
    UniProtKB/TrEMBL
    A8K2Q2
    Related
    ENSP00000442024.1, ENST00000536256.3
    Conserved Domains (4) summary
    cd03250
    Location:335535
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    COG1131
    Location:353596
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    COG1132
    Location:639771
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    cl00549
    Location:643770
    ABC_membrane; ABC transporter transmembrane region
  4. NM_005845.5NP_005836.2  ATP-binding cassette sub-family C member 4 isoform 1

    See identical proteins and their annotated locations for NP_005836.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL139381, AL157818, AL356257
    Consensus CDS
    CCDS9474.1
    UniProtKB/Swiss-Prot
    O15439
    UniProtKB/TrEMBL
    A8K2Q2
    Related
    ENSP00000494609.1, ENST00000645237.2
    Conserved Domains (5) summary
    cd03244
    Location:10391258
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:410610
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:111269
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:718991
    ABC_membrane; ABC transporter transmembrane region
    cl00549
    Location:96365
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    95019835..95301451 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020319.1XP_016875808.1  ATP-binding cassette sub-family C member 4 isoform X1

    Conserved Domains (5) summary
    cd03244
    Location:9961215
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:367567
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:11226
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:675948
    ABC_membrane; ABC transporter transmembrane region
    cl00549
    Location:53322
    ABC_membrane; ABC transporter transmembrane region
  2. XM_005254025.2XP_005254082.1  ATP-binding cassette sub-family C member 4 isoform X1

    Conserved Domains (5) summary
    cd03244
    Location:9961215
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:367567
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:11226
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:675948
    ABC_membrane; ABC transporter transmembrane region
    cl00549
    Location:53322
    ABC_membrane; ABC transporter transmembrane region
  3. XM_017020321.1XP_016875810.1  ATP-binding cassette sub-family C member 4 isoform X3

  4. XM_017020322.1XP_016875811.1  ATP-binding cassette sub-family C member 4 isoform X4

  5. XM_017020320.2XP_016875809.1  ATP-binding cassette sub-family C member 4 isoform X2

    Related
    ENSP00000495513.1, ENST00000643051.1
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