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    ABCC3 ATP binding cassette subfamily C member 3 [ Homo sapiens (human) ]

    Gene ID: 8714, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ABCC3provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 3provided by HGNC
    Primary source
    HGNC:HGNC:54
    See related
    Ensembl:ENSG00000108846 MIM:604323; AllianceGenome:HGNC:54
    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
    MLP2; MRP3; ABC31; MOAT-D; cMOAT2; EST90757
    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. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in adrenal (RPKM 32.2), stomach (RPKM 26.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABCC3 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50634881..50692253)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51502046..51559449)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48712242..48769614)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CACNA1G antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48639035-48639624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48646614-48647600 Neighboring gene calcium voltage-gated channel subunit alpha1 G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48670255-48671063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48673674-48674174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48686338-48686945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48702910-48703682 Neighboring gene uncharacterized LOC101927253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8706 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48715992-48717191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48717641-48718411 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48738547-48739746 Neighboring gene Sharpr-MPRA regulatory region 5804 Neighboring gene ABCC3 (B) eExon liver enhancer Neighboring gene Sharpr-MPRA regulatory region 2031 Neighboring gene ankyrin repeat domain 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48802297-48802796 Neighboring gene LUC7 like 3 pre-mRNA splicing factor

    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 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. Systematic screening of human ABCC3 polymorphisms and their effects on MRP3 expression and function. Sasaki T, et al. Drug Metab Pharmacokinet, 2011. PMID 21512263
    2. Genetic variations of the ABC transporter gene ABCC3 in a Japanese population. Fukushima-Uesaka H, et al. Drug Metab Pharmacokinet, 2007 Apr. PMID 17495421
    3. Interindividual Differences in the Expression of ATP-Binding Cassette and Solute Carrier Family Transporters in Human Skin: DNA Methylation Regulates Transcriptional Activity of the Human ABCC3 Gene. Takechi T, et al. Drug Metab Dispos, 2018 May. PMID 29437875
    4. Could polymorphisms in ATP-binding cassette C3/multidrug resistance associated protein 3 (ABCC3/MRP3) modify colorectal cancer risk? Campa D, et al. Eur J Cancer, 2008 Apr. PMID 18313914
    5. Expression profile of early lung adenocarcinoma: identification of MRP3 as a molecular marker for early progression. Hanada S, et al. J Pathol, 2008 Sep. PMID 18604784

    See all (128) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of ABCC3 activates MAPK signaling through accumulation of deoxycholic acid in colorectal cancer cells.
      Title: Downregulation of ABCC3 activates MAPK signaling through accumulation of deoxycholic acid in colorectal cancer cells.
    2. SMARCA4 (BRG1) activates ABCC3 transcription to promote hepatocellular carcinogenesis.
      Title: SMARCA4 (BRG1) activates ABCC3 transcription to promote hepatocellular carcinogenesis.
    3. Association Study of SLCO1B3 and ABCC3 Genetic Variants in Gallstone Disease.
      Title: Association Study of SLCO1B3 and ABCC3 Genetic Variants in Gallstone Disease.
    4. The Role of TRIP6, ABCC3 and CPS1 Expression in Resistance of Ovarian Cancer to Taxanes.
      Title: The Role of TRIP6, ABCC3 and CPS1 Expression in Resistance of Ovarian Cancer to Taxanes.
    5. Effect of bile acids on the expression of MRP3 and MRP4: An In vitro study in HepG2 cell line.
      Title: Effect of bile acids on the expression of MRP3 and MRP4: An In vitro study in HepG2 cell line.
    6. CircABCC3 knockdown inhibits glioblastoma cell malignancy by regulating miR-770-5p/SOX2 axis through PI3K/AKT signaling pathway.
      Title: CircABCC3 knockdown inhibits glioblastoma cell malignancy by regulating miR-770-5p/SOX2 axis through PI3K/AKT signaling pathway.
    7. Prevalence of ABCC3-1767G/A polymorphism among patients with antiretroviral-associated hepatotoxicity.
      Title: Prevalence of ABCC3-1767G/A polymorphism among patients with antiretroviral-associated hepatotoxicity.
    8. ABCC3 is a novel target for the treatment of pancreatic cancer.
      Title: ABCC3 is a novel target for the treatment of pancreatic cancer.
    9. Low expression of MRP3 is associated with Hepatocellular Carcinoma and in Cholangiocarcinoma.
      Title: Immunohistochemical Assessment of the Expression of Biliary Transportation Proteins MRP2 and MRP3 in Hepatocellular Carcinoma and in Cholangiocarcinoma.
    10. OATPB1/B3 and MRP3 immunohistochemistry and signal intensity on hepatobiliary phase Gd-EOB-DTPA-enhanced MRI can help to stratify hepatocellular adenoma according to their risk of malignant transformation.
      Title: OATPB1/B3 and MRP3 expression in hepatocellular adenoma predicts Gd-EOB-DTPA uptake and correlates with risk of malignancy.
    Submit: New GeneRIF Correction See all GeneRIFs (91)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    • DKFZp686E22157

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type bile acid transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ABC-type bile acid transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables ABC-type glutathione S-conjugate transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ABC-type transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables ABC-type xenobiotic transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATPase-coupled transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables glucuronoside transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables icosanoid 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 bile acid and bile salt transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bile acid and bile salt transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in glucuronoside transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in leukotriene transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in monoatomic anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in xenobiotic transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 3
    Names
    ATP-binding cassette, sub-family C (CFTR/MRP), member 3
    canalicular multispecific organic anion transporter 2
    canicular multispecific organic anion transporter
    multi-specific organic anion transporter D
    multidrug resistance associated protein
    multidrug resistance-associated protein 3
    NP_001137542.1
    NP_003777.2

    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.

    mRNA and Protein(s)

    1. NM_001144070.2 → NP_001137542.1  ATP-binding cassette sub-family C member 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons and has an alternate 3' sequence, as compared to variant 1. The resulting isoform (2) is much shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      BC046126, BC050370, BC058907
      Consensus CDS
      CCDS45739.1
      UniProtKB/TrEMBL
      Q86VN9
      Related
      ENSP00000395160.1, ENST00000427699.5
      Conserved Domains (1) summary
      cl00549
      Location:317 → 546
      ABC_membrane; ABC transporter transmembrane region

    2. NM_003786.4 → NP_003777.2  ATP-binding cassette sub-family C member 3 isoform 1

      See identical proteins and their annotated locations for NP_003777.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB010887, AC005921, BC046126, BC137347
      Consensus CDS
      CCDS32681.1
      UniProtKB/Swiss-Prot
      B2RPA9, D3DTX9, O15438, O60265, O60922, O75621, O95078, O95289, O95290, Q86X85, Q9UN52
      UniProtKB/TrEMBL
      Q59H05
      Related
      ENSP00000285238.8, ENST00000285238.13
      Conserved Domains (1) summary
      cl26602
      Location:7 → 1526
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50634881..50692253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51502046..51559449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020037.1: Suppressed sequence

      Description
      NM_020037.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_020038.1: Suppressed sequence

      Description
      NM_020038.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15438.3 GenPept UniProtKB/Swiss-Prot:O15438

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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