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

Gene ID: 10257, updated on 10-Oct-2024

Summary

Official Symbol
ABCC4provided by HGNC
Official Full Name
ATP binding cassette subfamily C member 4 (PEL blood group)provided by HGNC
Primary source
HGNC:HGNC:55
See related
Ensembl:ENSG00000125257 MIM:605250; AllianceGenome:HGNC:55
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:
35
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (95019835..95301451, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (94223430..94506029, complement)
RS_2024_09 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 long intergenic non-protein coding RNA 557 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:95648475-95649263 Neighboring gene RNA, U6 small nuclear 62, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7867 Neighboring gene NANOG hESC enhancer GRCh37_chr13:95826697-95827198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:95845687-95846187 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:95856177-95856677 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:95861642-95862841 Neighboring gene Sharpr-MPRA regulatory region 4491 Neighboring gene small nucleolar RNA, C/D box 13G Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5436 Neighboring gene uncharacterized LOC124903192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7875 Neighboring gene uncharacterized LOC102724149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:95953650-95954424 Neighboring gene RNY3 pseudogene 8 Neighboring gene RNY4 pseudogene 27

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

Description
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
EBI GWAS Catalog
A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
EBI GWAS Catalog
Joint influence of small-effect genetic variants on human longevity.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 transporter activity TAS
Traceable Author Statement
more info
 
enables ABC-type xenobiotic 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 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
 
enables ATPase-coupled transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase-coupled transmembrane 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 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 leukotriene transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in monoatomic anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in platelet degranulation TAS
Traceable Author Statement
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 transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
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 metabolic process TAS
Traceable Author Statement
more info
 
involved_in xenobiotic transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
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 membrane HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus 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
 
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_016875809.1
XP_047285990.1
XP_047285991.1
XP_054229974.1
XP_054229975.1
XP_054229976.1

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/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/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
    A9Z1Z7, B7Z3Q7, O15439, Q8IVZ4, Q8IZN6, Q8NEW8, Q9Y6J2
    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: 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

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047430034.1XP_047285990.1  ATP-binding cassette sub-family C member 4 isoform X1

  2. XM_047430035.1XP_047285991.1  ATP-binding cassette sub-family C member 4 isoform X2

  3. XM_017020320.3XP_016875809.1  ATP-binding cassette sub-family C member 4 isoform X3

    UniProtKB/TrEMBL
    A8K2Q2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    94223430..94506029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373999.1XP_054229974.1  ATP-binding cassette sub-family C member 4 isoform X1

  2. XM_054374000.1XP_054229975.1  ATP-binding cassette sub-family C member 4 isoform X2

  3. XM_054374001.1XP_054229976.1  ATP-binding cassette sub-family C member 4 isoform X3