ABCC5 ATP binding cassette subfamily C member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCC5provided by HGNC
Official Full Name: ATP binding cassette subfamily C member 5provided by HGNC
Primary source: HGNC:HGNC:56
See related: Ensembl:ENSG00000114770 MIM:605251; AllianceGenome:HGNC:56
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: MRP5; SMRP; ABC33; MOATC; MOAT-C; pABC11; EST277145
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 protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression: Ubiquitous expression in stomach (RPKM 10.1), spleen (RPKM 6.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.1

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (183919934..184017884, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (186729643..186827475, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183637722..183735672, complement)

Chromosome 3 - NC_000003.12 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?

Inhibition and transport mechanisms of the ABC transporter hMRP5.
Title: Inhibition and transport mechanisms of the ABC transporter hMRP5.
FOXM1 Promotes Drug Resistance in Cervical Cancer Cells by Regulating ABCC5 Gene Transcription.
Title: FOXM1 Promotes Drug Resistance in Cervical Cancer Cells by Regulating ABCC5 Gene Transcription.
ABCC5 facilitates the acquired resistance of sorafenib through the inhibition of SLC7A11-induced ferroptosis in hepatocellular carcinoma.
Title: ABCC5 facilitates the acquired resistance of sorafenib through the inhibition of SLC7A11-induced ferroptosis in hepatocellular carcinoma.
Association of Single-Nucleotide Polymorphisms in ABCC5 Gene with Primary Angle Closure Glaucoma and the Ocular Biometric Parameters in a Northern Chinese Population.
Title: Association of Single-Nucleotide Polymorphisms in ABCC5 Gene with Primary Angle Closure Glaucoma and the Ocular Biometric Parameters in a Northern Chinese Population.
Pan-cancer analysis and single-cell analysis revealed the role of ABCC5 transporter in hepatocellular carcinoma.
Title: Pan-cancer analysis and single-cell analysis revealed the role of ABCC5 transporter in hepatocellular carcinoma.
Inhibition of ABCC5-mediated cGMP transport by progesterone, testosterone and their analogues.
Title: Inhibition of ABCC5-mediated cGMP transport by progesterone, testosterone and their analogues.
MRP5 nitration by NO-releasing gemcitabine encapsulated in liposomes confers sensitivity in chemoresistant pancreatic adenocarcinoma cells.
Title: MRP5 nitration by NO-releasing gemcitabine encapsulated in liposomes confers sensitivity in chemoresistant pancreatic adenocarcinoma cells.
ABCC5 polymorphisms may explain partially the interpatient variability in doxorubicin disposition.
Title: Pharmacogenetics of ABCB5, ABCC5 and RLIP76 and doxorubicin pharmacokinetics in Asian breast cancer patients.
This study is the first to identify the roles of FOXM1 in drug efflux and paclitaxel resistance by regulating the gene transcription of abcc5, one of the ABC transporters. Small molecular inhibitors of FOXM1 or ABCC5 have the potential to overcome paclitaxel chemoresistance in nasopharyngeal carcinoma (NPC)patients.
Title: The FOXM1-ABCC5 axis contributes to paclitaxel resistance in nasopharyngeal carcinoma cells.
These findings enrich the allelic spectrum of ABCC5 in PACG. We identified no tagging SNP responsible for the association of the whole region.
Title: Genetic Association of the PARL-ABCC5-HTR3D-HTR3C Locus With Primary Angle-Closure Glaucoma in Chinese.

Submit: New GeneRIF Correction See all GeneRIFs (47)

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
ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. 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

STS-N68159 (e-PCR)
- UniSTS:64515

SGC33898 (e-PCR)
- UniSTS:7430

RH80629 (e-PCR)
- UniSTS:91409

SHGC-77595 (e-PCR)
- UniSTS:57874

D3S1324E (e-PCR)
- UniSTS:147527

G62024 (e-PCR)
- UniSTS:139109

RH71180 (e-PCR)
- UniSTS:25736

SHGC-34525 (e-PCR)
- UniSTS:53645

RH46232 (e-PCR)
- UniSTS:2959

STS-T83859 (e-PCR)
- UniSTS:14498

RH70792 (e-PCR)
- UniSTS:67496

CH241-100C11_T7 (e-PCR)
- UniSTS:505523

SHGC-64857 (e-PCR)
- UniSTS:49616

RH47340 (e-PCR)
- UniSTS:23788

D3S1324E (e-PCR)
- UniSTS:147438

ABCC5 (e-PCR)
- UniSTS:505583

D3S4256 (e-PCR)
- UniSTS:66291

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type xenobiotic transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
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	TAS Traceable Author Statement more info
enables carbohydrate derivative transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables efflux transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables glutathione transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables heme transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables macromolecule transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables organic anion transmembrane transporter activity	TAS Traceable Author Statement more info
enables purine nucleotide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cAMP transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cGMP transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in folate transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutathione transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in heme transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hyaluronan biosynthetic process	TAS Traceable Author Statement more info
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide transport	IDA Inferred from Direct Assay 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 xenobiotic metabolic process	TAS Traceable Author Statement more info
involved_in xenobiotic transmembrane transport	TAS Traceable Author Statement more info
involved_in xenobiotic transport	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	IEA Inferred from Electronic Annotation 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 basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay 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

General protein information

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Preferred Names: ATP-binding cassette sub-family C member 5

Names: ATP-binding cassette, sub-family C (CFTR/MRP), member 5; canalicular multispecific organic anion transporter C; multi-specific organic anion transporter C; multidrug resistance-associated protein 5

NP_001018881.1

EC 7.6.2.2

NP_001306961.1

EC 7.6.2.2

NP_005679.2

EC 7.6.2.2

XP_005247116.1

EC 7.6.2.2

XP_011510616.1

EC 7.6.2.2

XP_011510617.1

EC 7.6.2.2

XP_016860982.1

EC 7.6.2.2

XP_047303054.1

EC 7.6.2.2

XP_047303055.1

EC 7.6.2.2

XP_047303056.1

EC 7.6.2.2

XP_054200801.1

EC 7.6.2.2

XP_054200802.1

EC 7.6.2.2

XP_054200803.1

EC 7.6.2.2

XP_054200804.1

EC 7.6.2.2

XP_054200805.1

EC 7.6.2.2

XP_054200806.1

EC 7.6.2.2

XP_054200807.1

EC 7.6.2.2

XP_054200808.1

EC 7.6.2.2

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_047115.1 RefSeqGene

Range

5127..103077

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001023587.3 → NP_001018881.1 ATP-binding cassette sub-family C member 5 isoform 2

See identical proteins and their annotated locations for NP_001018881.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons and contains an alternate 3' structure, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AY754875

Consensus CDS

CCDS33898.1

UniProtKB/TrEMBL

A5PKY6

Related

ENSP00000371934.2, ENST00000382494.6

Conserved Domains (1) summary

PLN03232
Location:100 → 156

PLN03232; ABC transporter C family member; Provisional
NM_001320032.2 → NP_001306961.1 ATP-binding cassette sub-family C member 5 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site, resulting in the use of a downstream start codon, compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AF104942, BC144495, CN410200, HY073434

UniProtKB/Swiss-Prot

O15440

Conserved Domains (1) summary

PLN03130
Location:103 → 953

PLN03130; ABC transporter C family member; Provisional
NM_005688.4 → NP_005679.2 ATP-binding cassette sub-family C member 5 isoform 1

See identical proteins and their annotated locations for NP_005679.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AB019002, AC068644, AF104942, AW207515, CN410200, HY073434

Consensus CDS

CCDS43176.1

UniProtKB/Swiss-Prot

B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3

UniProtKB/TrEMBL

Q59FK6

Related

ENSP00000333926.6, ENST00000334444.11

Conserved Domains (4) summary

cd03244
Location:1191 → 1411

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

cd03250
Location:577 → 759

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

TIGR01271
Location:100 → 1430

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

cl00549
Location:863 → 1143

ABC_membrane; ABC transporter transmembrane region

RNA

NR_135125.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several alternate exons, and contains an alternate 3' structure, compared to variant 1. This variant is represented as non-coding because the use of the 5' most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AY754874

Related

ENST00000443376.5

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_000003.12 Reference GRCh38.p14 Primary Assembly

Range

183919934..184017884 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005247059.6 → XP_005247116.1 ATP-binding cassette sub-family C member 5 isoform X1

See identical proteins and their annotated locations for XP_005247116.1

UniProtKB/Swiss-Prot

B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3

UniProtKB/TrEMBL

Q59FK6

Conserved Domains (4) summary

cd03244
Location:1191 → 1411

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

cd03250
Location:577 → 759

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

TIGR01271
Location:100 → 1430

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

cl00549
Location:863 → 1143

ABC_membrane; ABC transporter transmembrane region
XM_011512314.3 → XP_011510616.1 ATP-binding cassette sub-family C member 5 isoform X1

See identical proteins and their annotated locations for XP_011510616.1

UniProtKB/Swiss-Prot

B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3

UniProtKB/TrEMBL

Q59FK6

Conserved Domains (4) summary

cd03244
Location:1191 → 1411

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

cd03250
Location:577 → 759

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

TIGR01271
Location:100 → 1430

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

cl00549
Location:863 → 1143

ABC_membrane; ABC transporter transmembrane region
XM_047447098.1 → XP_047303054.1 ATP-binding cassette sub-family C member 5 isoform X1

UniProtKB/Swiss-Prot

B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3
XM_011512315.2 → XP_011510617.1 ATP-binding cassette sub-family C member 5 isoform X2

UniProtKB/TrEMBL

Q59FK6

Conserved Domains (4) summary

cd03250
Location:577 → 759

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

COG1132
Location:165 → 782

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

cl00549
Location:863 → 1143

ABC_membrane; ABC transporter transmembrane region

cl21455
Location:1191 → 1310

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017005493.2 → XP_016860982.1 ATP-binding cassette sub-family C member 5 isoform X3

UniProtKB/TrEMBL

A5PKY6

Related

ENSP00000404809.2, ENST00000427120.6

Conserved Domains (1) summary

PLN03232
Location:100 → 156

PLN03232; ABC transporter C family member; Provisional
XM_047447100.1 → XP_047303056.1 ATP-binding cassette sub-family C member 5 isoform X3
XM_047447099.1 → XP_047303055.1 ATP-binding cassette sub-family C member 5 isoform X3