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

Gene ID: 10057, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See ABCC5 in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 31 Neighboring gene cytochrome P450 family 2 subfamily AB member 1, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183626615-183627116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20899 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183707861-183708361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14952 Neighboring gene uncharacterized LOC124909468 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:183728194-183729393 Neighboring gene ABCC5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20900 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183756415-183756915 Neighboring gene 5-hydroxytryptamine receptor 3D

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Inhibition and transport mechanisms of the ABC transporter hMRP5. Huang Y, et al. Nat Commun, 2024 Jun 6. PMID 38844452, Free PMC Article
  2. ABCC5 transporter is a novel type 2 diabetes susceptibility gene in European and African American populations. Direk K, et al. Ann Hum Genet, 2014 Sep. PMID 25117150, Free PMC Article
  3. cCMP is a substrate for MRP5. Laue S, et al. Naunyn Schmiedebergs Arch Pharmacol, 2014 Sep. PMID 25017019
  4. Immunohistochemical study of MRP5 expression in meningiomas. Alexiou GA, et al. Cancer Chemother Pharmacol, 2013 Mar. PMID 23271324
  5. ABCC5 supports osteoclast formation and promotes breast cancer metastasis to bone. Mourskaia AA, et al. Breast Cancer Res, 2012 Nov 22. PMID 23174366, Free PMC Article

See all (95) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inhibition and transport mechanisms of the ABC transporter hMRP5.
    Title: Inhibition and transport mechanisms of the ABC transporter hMRP5.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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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

Homology

Clone Names

  • DKFZp686C1782

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
NP_001306961.1
NP_005679.2
XP_005247116.1
XP_011510616.1
XP_011510617.1
XP_016860982.1
XP_047303054.1
XP_047303055.1
XP_047303056.1
XP_054200801.1
XP_054200802.1
XP_054200803.1
XP_054200804.1
XP_054200805.1
XP_054200806.1
XP_054200807.1
XP_054200808.1

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

  1. NG_047115.1 RefSeqGene

    Range
    5127..103077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  1. 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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    183919934..184017884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. XM_047447100.1 → XP_047303056.1  ATP-binding cassette sub-family C member 5 isoform X3

  7. XM_047447099.1 → XP_047303055.1  ATP-binding cassette sub-family C member 5 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    186729643..186827475 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344829.1 → XP_054200804.1  ATP-binding cassette sub-family C member 5 isoform X1

    UniProtKB/Swiss-Prot
    B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3

  2. XM_054344826.1 → XP_054200801.1  ATP-binding cassette sub-family C member 5 isoform X1

    UniProtKB/Swiss-Prot
    B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3

  3. XM_054344827.1 → XP_054200802.1  ATP-binding cassette sub-family C member 5 isoform X1

    UniProtKB/Swiss-Prot
    B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3

  4. XM_054344828.1 → XP_054200803.1  ATP-binding cassette sub-family C member 5 isoform X1

    UniProtKB/Swiss-Prot
    B9EIQ2, O14517, O15440, Q29ZA9, Q29ZB1, Q86UX3, Q86W30, Q9UN85, Q9UNP5, Q9UQC3

  5. XM_054344830.1 → XP_054200805.1  ATP-binding cassette sub-family C member 5 isoform X2

  6. XM_054344831.1 → XP_054200806.1  ATP-binding cassette sub-family C member 5 isoform X3

  7. XM_054344833.1 → XP_054200808.1  ATP-binding cassette sub-family C member 5 isoform X3

  8. XM_054344832.1 → XP_054200807.1  ATP-binding cassette sub-family C member 5 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15440.2 GenPept UniProtKB/Swiss-Prot:O15440

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