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    ABCC6 ATP binding cassette subfamily C member 6 [ Homo sapiens (human) ]

    Gene ID: 368, updated on 7-Jan-2018
    Official Symbol
    ABCC6provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 6provided by HGNC
    Primary source
    HGNC:HGNC:57
    See related
    Ensembl:ENSG00000091262 MIM:603234; Vega:OTTHUMG00000129967
    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
    ARA; PXE; MLP1; MRP6; PXE1; URG7; ABC34; GACI2; MOATE; MOAT-E; EST349056
    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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in liver (RPKM 16.7), kidney (RPKM 9.5) and 9 other tissues See more
    Orthologs
    Location:
    16p13.11
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (16149565..16223616, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (16243422..16318083, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984869 Neighboring gene ribosomal protein L15 pseudogene 20 Neighboring gene ATP binding cassette subfamily C member 1 Neighboring gene ribosomal protein L17 pseudogene 40 Neighboring gene uncharacterized LOC105371100 Neighboring gene NODAL modulator 3 Neighboring gene uncharacterized LOC105371099 Neighboring gene microRNA 3179-2

    • 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?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    ATPase-coupled anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP hydrolysis coupled anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    multidrug resistance-associated protein 6; URG7 protein
    Names
    ATP-binding cassette, sub-family C (CFTR/MRP), member 6
    anthracycline resistance-associated protein
    multi-specific organic anion transporter E

    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_007558.2 RefSeqGene

      Range
      5001..78907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079528.4NP_001072996.1  URG7 protein isoform 2

      See identical proteins and their annotated locations for NP_001072996.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks much of the coding region and represents a distinct 3' UTR compared to variant 1. The encoded protein (isoform 2) is much shorter and has a distinct C-terminus compared to isoform 1. The encoded protein is not a transporter, but is thought to play a role in protecting hepatocytes during chronic hepatitis B virus infection.
      Source sequence(s)
      AY078405, BC050733
      Consensus CDS
      CCDS58430.1
      UniProtKB/Swiss-Prot
      O95255
      Related
      ENSP00000461686.1, OTTHUMP00000256353, ENST00000575728.1
      Conserved Domains (1) summary
      TIGR00957
      Location:1474
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    2. NM_001171.5NP_001162.4  multidrug resistance-associated protein 6 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF076622, AI074459, BC131732, DC361874
      Consensus CDS
      CCDS10568.1
      UniProtKB/Swiss-Prot
      O95255
      Related
      ENSP00000205557.7, OTTHUMP00000160427, ENST00000205557.11, OTTHUMT00000252232
      Conserved Domains (5) summary
      TIGR00957
      Location:141502
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
      cd03244
      Location:12631483
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:629829
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      pfam16185
      Location:27146
      MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
      cl00549
      Location:9511216
      ABC_membrane; ABC transporter transmembrane region
    3. NM_001351800.1NP_001338729.1  multidrug resistance-associated protein 6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC136624, AF076622, AI074459, BC131732
      Conserved Domains (1) summary
      cl26602
      Location:11388
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    RNA

    1. NR_147784.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC136624, AF076622, AI074459, AM711638

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      16149565..16223616 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023212.1XP_016878701.1  multidrug resistance-associated protein 6 isoform X2

    2. XM_011522479.2XP_011520781.1  multidrug resistance-associated protein 6 isoform X1

      Conserved Domains (5) summary
      TIGR00957
      Location:141491
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
      cd03244
      Location:12521472
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:629818
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      pfam16185
      Location:27146
      MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
      cl00549
      Location:9401205
      ABC_membrane; ABC transporter transmembrane region
    3. XM_017023213.1XP_016878702.1  multidrug resistance-associated protein 6 isoform X3

      Conserved Domains (4) summary
      TIGR00957
      Location:11388
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
      cd03244
      Location:11491369
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:515715
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      cl00549
      Location:8371102
      ABC_membrane; ABC transporter transmembrane region
    4. XM_011522480.1XP_011520782.1  multidrug resistance-associated protein 6 isoform X3

      See identical proteins and their annotated locations for XP_011520782.1

      Conserved Domains (4) summary
      TIGR00957
      Location:11388
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
      cd03244
      Location:11491369
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:515715
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      cl00549
      Location:8371102
      ABC_membrane; ABC transporter transmembrane region
    5. XM_011522481.2XP_011520783.1  multidrug resistance-associated protein 6 isoform X3

      See identical proteins and their annotated locations for XP_011520783.1

      Conserved Domains (4) summary
      TIGR00957
      Location:11388
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
      cd03244
      Location:11491369
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:515715
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      cl00549
      Location:8371102
      ABC_membrane; ABC transporter transmembrane region
    6. XM_017023214.1XP_016878703.1  multidrug resistance-associated protein 6 isoform X4

    7. XM_011522482.2XP_011520784.1  multidrug resistance-associated protein 6 isoform X5

      Related
      ENSP00000405002.2, OTTHUMP00000256351, ENST00000456970.6, OTTHUMT00000436243
      Conserved Domains (4) summary
      cd03250
      Location:629829
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      COG1132
      Location:296845
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      pfam16185
      Location:27146
      MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region
      cl00549
      Location:315578
      ABC_membrane; ABC transporter transmembrane region

    RNA

    1. XR_932837.2 RNA Sequence

    2. XR_932838.2 RNA Sequence

    3. XR_932836.2 RNA Sequence

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      1807491..1881466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      18669848..18691347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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