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

Gene ID: 10057, updated on 5-Aug-2018

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; Vega:OTTHUMG00000156871
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

Genomic context

See ABCC5 in Genome Data Viewer
Location:
3q27.1
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (183919934..184018010, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183637722..183735803, 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 ABCC5 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 8 Neighboring gene 5-hydroxytryptamine receptor 3D

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Antifolate resistance, organism-specific biosystem (from KEGG)
    Antifolate resistance, organism-specific biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
  • Antifolate resistance, conserved biosystem (from KEGG)
    Antifolate resistance, conserved biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
  • Fluoropyrimidine Activity, organism-specific biosystem (from WikiPathways)
    Fluoropyrimidine Activity, organism-specific biosystemThe main mechanism of 5-FU activation is conversion to fluorodeoxyuridine monophosphate (FdUMP) which inhibits the enzyme thymidylate synthase (TYMS), an important part of the folate-homocysteine cyc...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Hyaluronan biosynthesis and export, organism-specific biosystem (from REACTOME)
    Hyaluronan biosynthesis and export, organism-specific biosystemHyaluronan (hyaluronic acid, HA) is composed of repeating disaccharide units of glucuronic acid and N-acetylglucosamine [-4GlcAb1-3GlcNAcb1-]. It is synthesized in the cell membrane by adding monosac...
  • Hyaluronan metabolism, organism-specific biosystem (from REACTOME)
    Hyaluronan metabolism, organism-specific biosystemHyaluronan (hyaluronic acid, hyaluronate or HA) is an anionic glycosaminoglycan (GAG) distributed widely throughout connective, epithelial, and neural tissues and most abundant in the extracellular m...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686C1782

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase-coupled anion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
organic anion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ATP hydrolysis coupled anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
hyaluronan biosynthetic process TAS
Traceable Author Statement
more info
 
organic anion transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5051..103077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001023587.2NP_001018881.1  multidrug resistance-associated protein 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, BX105640, HY073434
    Consensus CDS
    CCDS33898.1
    UniProtKB/Swiss-Prot
    O15440
    Related
    ENSP00000371934.2, OTTHUMP00000210863, ENST00000382494.6, OTTHUMT00000346354
    Conserved Domains (1) summary
    cl26602
    Location:100156
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  2. NM_001320032.1NP_001306961.1  multidrug resistance-associated protein 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 (5) summary
    cd03244
    Location:719939
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:105287
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    COG1132
    Location:386960
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    TIGR02982
    Location:98289
    heterocyst_DevA; ABC exporter ATP-binding subunit, DevA family
    pfam00664
    Location:391671
    ABC_membrane; ABC transporter transmembrane region
  3. NM_005688.3NP_005679.2  multidrug resistance-associated protein 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
    O15440
    Related
    ENSP00000333926.6, OTTHUMP00000210859, ENST00000334444.10, OTTHUMT00000346350
    Conserved Domains (4) summary
    cd03244
    Location:11911411
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:577759
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:1001430
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl00549
    Location:8631143
    ABC_membrane; ABC transporter transmembrane region

RNA

  1. NR_135125.1 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, BX105640, HY073434
    Related
    ENST00000443376.5, OTTHUMT00000346352

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    183919934..184018010 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247059.5XP_005247116.1  multidrug resistance-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_005247116.1

    UniProtKB/Swiss-Prot
    O15440
    Conserved Domains (4) summary
    cd03244
    Location:11911411
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:577759
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:1001430
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl00549
    Location:8631143
    ABC_membrane; ABC transporter transmembrane region
  2. XM_011512314.2XP_011510616.1  multidrug resistance-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_011510616.1

    UniProtKB/Swiss-Prot
    O15440
    Conserved Domains (4) summary
    cd03244
    Location:11911411
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:577759
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:1001430
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl00549
    Location:8631143
    ABC_membrane; ABC transporter transmembrane region
  3. XM_005247058.5XP_005247115.1  multidrug resistance-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_005247115.1

    UniProtKB/Swiss-Prot
    O15440
    Conserved Domains (4) summary
    cd03244
    Location:11911411
    ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
    cd03250
    Location:577759
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    TIGR01271
    Location:1001430
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl00549
    Location:8631143
    ABC_membrane; ABC transporter transmembrane region
  4. XM_024453286.1XP_024309054.1  multidrug resistance-associated protein 5 isoform X3

    Conserved Domains (1) summary
    PLN03130
    Location:671247
    PLN03130; ABC transporter C family member; Provisional
  5. XM_017005492.2XP_016860981.1  multidrug resistance-associated protein 5 isoform X3

    Conserved Domains (1) summary
    PLN03130
    Location:671247
    PLN03130; ABC transporter C family member; Provisional
  6. XM_011512315.1XP_011510617.1  multidrug resistance-associated protein 5 isoform X2

    Conserved Domains (4) summary
    cd03250
    Location:577759
    ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
    COG1132
    Location:165782
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    cl00549
    Location:8631143
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:11911310
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  7. XM_017005493.1XP_016860982.1  multidrug resistance-associated protein 5 isoform X4

    UniProtKB/Swiss-Prot
    O15440
    Related
    ENSP00000404809.2, OTTHUMP00000210864, ENST00000427120.6, OTTHUMT00000346355
    Conserved Domains (1) summary
    cl26602
    Location:100156
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  8. XM_017005494.1XP_016860983.1  multidrug resistance-associated protein 5 isoform X4

    UniProtKB/Swiss-Prot
    O15440
    Conserved Domains (1) summary
    cl26602
    Location:100156
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
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