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    ABCC4 ATP binding cassette subfamily C member 4 [ Homo sapiens (human) ]

    Gene ID: 10257, updated on 6-Aug-2017
    Official Symbol
    ABCC4provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 4provided by HGNC
    Primary source
    HGNC:HGNC:55
    See related
    Ensembl:ENSG00000125257 MIM:605250; Vega:OTTHUMG00000017216
    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]
    Orthologs
    Location:
    13q32.1
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (95019829..95301550, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (95672083..95953705, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 557 Neighboring gene RNA, U6 small nuclear 62, pseudogene Neighboring gene uncharacterized LOC102724149 Neighboring gene RNA, Ro-associated Y3 pseudogene 8 Neighboring gene RNA, Ro-associated Y4 pseudogene 27

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
    NHGRI GWA Catalog
    A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
    NHGRI GWA Catalog
    Joint influence of small-effect genetic variants on human longevity.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    • 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 ...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Drug Induction of Bile Acid Pathway, organism-specific biosystem (from WikiPathways)
      Drug Induction of Bile Acid Pathway, organism-specific biosystem
      Drug Induction of Bile Acid Pathway
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • 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...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • 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.
    • Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling, organism-specific biosystemPhotodynamic therapy may induce an antioxidant response mediated by NFE2L2.
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • EST170205

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    ATP hydrolysis coupled anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    biological_process ND
    No biological Data available
    more info
     
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    prostaglandin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    response to organonitrogen compound IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet dense granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet dense granule membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    multidrug resistance-associated protein 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
    NP_001098985.1
    NP_001288758.1
    NP_001288759.1
    NP_005836.2
    XP_005254082.1
    XP_016875808.1
    XP_016875809.1
    XP_016875810.1
    XP_016875811.1

    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_050651.1 RefSeqGene

      Range
      5001..286618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105515.2NP_001098985.1  multidrug resistance-associated protein 4 isoform 2

      See identical proteins and their annotated locations for NP_001098985.1

      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, BC041560, BX113883, CN410193
      Consensus CDS
      CCDS45061.1
      UniProtKB/Swiss-Prot
      O15439
      UniProtKB/TrEMBL
      A8K2Q2
      Related
      ENSP00000487081.1, OTTHUMP00000279175, ENST00000629385.1, OTTHUMT00000484007
      Conserved Domains (3) summary
      cd03250
      Location:410610
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      COG1132
      Location:90633
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl00549
      Location:96365
      ABC_membrane; ABC transporter transmembrane region
    2. NM_001301829.1NP_001288758.1  multidrug resistance-associated protein 4 isoform 3

      See identical proteins and their annotated locations for NP_001288758.1

      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)
      AF541977, AK290317, AK309460, BM687848, BP382967, BU689822, BX647118, CA314196, CN410193
      UniProtKB/Swiss-Prot
      O15439
      UniProtKB/TrEMBL
      A8K2Q2
      Conserved Domains (5) summary
      cd03244
      Location:9921211
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:410610
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:111222
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:677944
      ABC_membrane; ABC transporter transmembrane region
      cl00549
      Location:96365
      ABC_membrane; ABC transporter transmembrane region
    3. NM_001301830.1NP_001288759.1  multidrug resistance-associated protein 4 isoform 4

      See identical proteins and their annotated locations for NP_001288759.1

      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, BX113883, CN410193
      Consensus CDS
      CCDS76643.1
      UniProtKB/Swiss-Prot
      O15439
      UniProtKB/TrEMBL
      A8K2Q2
      Related
      ENSP00000442024.1, OTTHUMP00000275059, ENST00000536256.3, OTTHUMT00000474650
      Conserved Domains (4) summary
      cd03250
      Location:335535
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      COG1131
      Location:353596
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      COG1132
      Location:639771
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl00549
      Location:643770
      ABC_membrane; ABC transporter transmembrane region
    4. NM_005845.4NP_005836.2  multidrug resistance-associated protein 4 isoform 1

      See identical proteins and their annotated locations for NP_005836.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK290317, AK309460, AY207008, BM687848, BP382967, BU689822, BX647118, CA314196, CN410193
      Consensus CDS
      CCDS9474.1
      UniProtKB/Swiss-Prot
      O15439
      UniProtKB/TrEMBL
      A8K2Q2
      Related
      ENSP00000366084.4, OTTHUMP00000018560, ENST00000376887.8, OTTHUMT00000045478
      Conserved Domains (5) summary
      cd03244
      Location:10391258
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:410610
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:111269
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:718991
      ABC_membrane; ABC transporter transmembrane region
      cl00549
      Location:96365
      ABC_membrane; ABC transporter transmembrane region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      95019829..95301550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020319.1XP_016875808.1  multidrug resistance-associated protein 4 isoform X1

      Conserved Domains (5) summary
      cd03244
      Location:9961215
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:367567
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:11226
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:675948
      ABC_membrane; ABC transporter transmembrane region
      cl00549
      Location:53322
      ABC_membrane; ABC transporter transmembrane region
    2. XM_005254025.2XP_005254082.1  multidrug resistance-associated protein 4 isoform X1

      Conserved Domains (5) summary
      cd03244
      Location:9961215
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:367567
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:11226
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:675948
      ABC_membrane; ABC transporter transmembrane region
      cl00549
      Location:53322
      ABC_membrane; ABC transporter transmembrane region
    3. XM_017020321.1XP_016875810.1  multidrug resistance-associated protein 4 isoform X3

    4. XM_017020322.1XP_016875811.1  multidrug resistance-associated protein 4 isoform X4

    5. XM_017020320.1XP_016875809.1  multidrug resistance-associated protein 4 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      95641739..95923888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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