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

    Gene ID: 10057, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABCC5 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183919934..184017884, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186729643..186827475, complement)
    105.20220307 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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686C1782

    Gene Ontology Provided by GOA

    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

    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)

    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_047115.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001023587.3NP_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:100156
      PLN03232; ABC transporter C family member; Provisional
    2. NM_001320032.2NP_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:103953
      PLN03130; ABC transporter C family member; Provisional
    3. NM_005688.4NP_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: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_135125.2 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_2023_10

    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_005247059.6XP_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: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_011512314.3XP_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: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_047447098.1XP_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
      UniProtKB/TrEMBL
      Q59FK6
    4. XM_011512315.2XP_011510617.1  ATP-binding cassette sub-family C member 5 isoform X2

      UniProtKB/TrEMBL
      Q59FK6
      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
    5. XM_017005493.2XP_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:100156
      PLN03232; ABC transporter C family member; Provisional
    6. XM_047447100.1XP_047303056.1  ATP-binding cassette sub-family C member 5 isoform X3

      UniProtKB/TrEMBL
      A5PKY6
    7. XM_047447099.1XP_047303055.1  ATP-binding cassette sub-family C member 5 isoform X3

      UniProtKB/TrEMBL
      A5PKY6

    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_054344829.1XP_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
      UniProtKB/TrEMBL
      Q59FK6
    2. XM_054344826.1XP_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
      UniProtKB/TrEMBL
      Q59FK6
    3. XM_054344827.1XP_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
      UniProtKB/TrEMBL
      Q59FK6
    4. XM_054344828.1XP_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
      UniProtKB/TrEMBL
      Q59FK6
    5. XM_054344830.1XP_054200805.1  ATP-binding cassette sub-family C member 5 isoform X2

      UniProtKB/TrEMBL
      Q59FK6
    6. XM_054344831.1XP_054200806.1  ATP-binding cassette sub-family C member 5 isoform X3

      UniProtKB/TrEMBL
      A5PKY6
    7. XM_054344833.1XP_054200808.1  ATP-binding cassette sub-family C member 5 isoform X3

      UniProtKB/TrEMBL
      A5PKY6
    8. XM_054344832.1XP_054200807.1  ATP-binding cassette sub-family C member 5 isoform X3

      UniProtKB/TrEMBL
      A5PKY6