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

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: mouse all
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Genomic context

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ABCC4 impacts megakaryopoiesis and protects megakaryocytes against 6-mercaptopurine induced cytotoxicity.
Title: ABCC4 impacts megakaryopoiesis and protects megakaryocytes against 6-mercaptopurine induced cytotoxicity.
Structural and mechanistic basis of substrate transport by the multidrug transporter MRP4.
Title: Structural and mechanistic basis of substrate transport by the multidrug transporter MRP4.
m6A-modified circABCC4 promotes stemness and metastasis of prostate cancer by recruiting IGF2BP2 to increase stability of CCAR1.
Title: m6A-modified circABCC4 promotes stemness and metastasis of prostate cancer by recruiting IGF2BP2 to increase stability of CCAR1.
Specific inhibition of the transporter MRP4/ABCC4 affects multiple signaling pathways and thrombus formation in human platelets.
Title: Specific inhibition of the transporter MRP4/ABCC4 affects multiple signaling pathways and thrombus formation in human platelets.
Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).
Title: Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).
Drug resistance biomarker ABCC4 of selinexor and immune feature in multiple myeloma.
Title: Drug resistance biomarker ABCC4 of selinexor and immune feature in multiple myeloma.
IL-10 contributes to gemcitabine resistance in extranodal NK/T-cell lymphoma cells via ABCC4.
Title: IL-10 contributes to gemcitabine resistance in extranodal NK/T-cell lymphoma cells via ABCC4.
ABCC4 single-nucleotide polymorphisms as markers of tenofovir disoproxil fumarate-induced kidney impairment.
Title: ABCC4 single-nucleotide polymorphisms as markers of tenofovir disoproxil fumarate-induced kidney impairment.
In-vitro characterization of coding variants with predicted functional implications in the efflux transporter multidrug resistance protein 4 (MRP4, ABCC4).
Title: In-vitro characterization of coding variants with predicted functional implications in the efflux transporter multidrug resistance protein 4 (MRP4, ABCC4).
The Daily Expression of ABCC4 at the BCSFB Affects the Transport of Its Substrate Methotrexate.
Title: The Daily Expression of ABCC4 at the BCSFB Affects the Transport of Its Substrate Methotrexate.

Submit: New GeneRIF Correction See all GeneRIFs (169)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S1004 (e-PCR)
- UniSTS:152337

STS-N34031 (e-PCR)
- UniSTS:18971

D13S1041 (e-PCR)
- UniSTS:152373

D13S631 (e-PCR)
- UniSTS:149304

G43645 (e-PCR)
- UniSTS:95072

RH102306 (e-PCR)
- UniSTS:96640

G62453 (e-PCR)
- UniSTS:139511

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 more info	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

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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

EC 7.6.2.2

EC 7.6.2.3

NP_001288758.1

EC 7.6.2.2

EC 7.6.2.3

NP_001288759.1

EC 7.6.2.2

EC 7.6.2.3

NP_005836.2

EC 7.6.2.2

EC 7.6.2.3

XP_016875809.1

EC 7.6.2.2

EC 7.6.2.3

XP_047285990.1

EC 7.6.2.2

EC 7.6.2.3

XP_047285991.1

EC 7.6.2.2

EC 7.6.2.3

XP_054229974.1

EC 7.6.2.2

EC 7.6.2.3

XP_054229975.1

EC 7.6.2.2

EC 7.6.2.3

XP_054229976.1

EC 7.6.2.2

EC 7.6.2.3

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_050651.2 RefSeqGene

Range

4996..286612

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1183

mRNA and Protein(s)

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

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:410 → 610

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

COG1132
Location:90 → 633

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

cl00549
Location:96 → 365

ABC_membrane; ABC transporter transmembrane region
NM_001301829.2 → NP_001288758.1 ATP-binding cassette sub-family C member 4 isoform 3

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:992 → 1211

ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein

cd03250
Location:410 → 610

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

TIGR01271
Location:11 → 1222

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:677 → 944

ABC_membrane; ABC transporter transmembrane region

cl00549
Location:96 → 365

ABC_membrane; ABC transporter transmembrane region
NM_001301830.2 → NP_001288759.1 ATP-binding cassette sub-family C member 4 isoform 4

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:335 → 535

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

COG1131
Location:353 → 596

CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]

COG1132
Location:639 → 771

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

cl00549
Location:643 → 770

ABC_membrane; ABC transporter transmembrane region
NM_005845.5 → NP_005836.2 ATP-binding cassette sub-family C member 4 isoform 1

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:1039 → 1258

ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein

cd03250
Location:410 → 610

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

TIGR01271
Location:11 → 1269

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:718 → 991

ABC_membrane; ABC transporter transmembrane region

cl00549
Location:96 → 365

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_000013.11 Reference GRCh38.p14 Primary Assembly

Range

95019835..95301451 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430034.1 → XP_047285990.1 ATP-binding cassette sub-family C member 4 isoform X1
XM_047430035.1 → XP_047285991.1 ATP-binding cassette sub-family C member 4 isoform X2
XM_017020320.3 → XP_016875809.1 ATP-binding cassette sub-family C member 4 isoform X3

UniProtKB/TrEMBL

A8K2Q2

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

94223430..94506029 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373999.1 → XP_054229974.1 ATP-binding cassette sub-family C member 4 isoform X1
XM_054374000.1 → XP_054229975.1 ATP-binding cassette sub-family C member 4 isoform X2
XM_054374001.1 → XP_054229976.1 ATP-binding cassette sub-family C member 4 isoform X3

UniProtKB/TrEMBL

A8K2Q2