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    ABCC11 ATP binding cassette subfamily C member 11 [ Homo sapiens (human) ]

    Gene ID: 85320, updated on 16-Jul-2016
    Official Symbol
    ABCC11provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 11provided by HGNC
    Primary source
    HGNC:HGNC:14639
    See related
    Ensembl:ENSG00000121270 HPRD:06127; MIM:607040; Vega:OTTHUMG00000133146
    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
    WW; EWWD; MRP8
    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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    16q12.1
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (48164842..48249973, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (48200782..48281479, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371238 Neighboring gene ATP binding cassette subfamily C member 12 Neighboring gene lon peptidase 2, peroxisomal Neighboring gene uncharacterized LOC100507577 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 Neighboring gene siah E3 ubiquitin protein ligase 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Apocrine gland secretion, variation in
    MedGen: C1861696 OMIM: 117800 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    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...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    anion transmembrane-transporting ATPase activity TAS
    Traceable Author Statement
    more info
     
    organic anion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    purine nucleotide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    organic anion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    purine nucleotide transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    ATP-binding cassette sub-family C member 11
    Names
    ATP-binding cassette protein C11
    ATP-binding cassette transporter MRP8
    ATP-binding cassette transporter sub-family C member 11
    ATP-binding cassette, sub-family C (CFTR/MRP), member 11
    multi-resistance protein 8
    multidrug resistance-associated protein 8

    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_011522.1 RefSeqGene

      Range
      5001..73267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032583.3NP_115972.2  ATP-binding cassette sub-family C member 11 isoform a

      See identical proteins and their annotated locations for NP_115972.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), as well as variant 2, encodes the predominant isoform (a).
      Source sequence(s)
      AF352582, AF411579, AY040219
      Consensus CDS
      CCDS10732.1
      UniProtKB/Swiss-Prot
      Q96J66
      UniProtKB/TrEMBL
      A0A024R6Q6
      Related
      ENSP00000378231, ENST00000394748
      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    2. NM_033151.3NP_149163.2  ATP-binding cassette sub-family C member 11 isoform a

      See identical proteins and their annotated locations for NP_149163.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same predominant isoform (a).
      Source sequence(s)
      AF352582, AY040219
      Consensus CDS
      CCDS10732.1
      UniProtKB/Swiss-Prot
      Q96J66
      UniProtKB/TrEMBL
      A0A024R6Q6
      Related
      ENSP00000378230, OTTHUMP00000253663, ENST00000394747, OTTHUMT00000429984
      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    3. NM_145186.2NP_660187.1  ATP-binding cassette sub-family C member 11 isoform b

      See identical proteins and their annotated locations for NP_660187.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AF352582, AF411579, AY040219
      Consensus CDS
      CCDS10733.1
      UniProtKB/Swiss-Prot
      Q96J66
      UniProtKB/TrEMBL
      A0A024R6R9
      Related
      ENSP00000311326, OTTHUMP00000164192, ENST00000353782, OTTHUMT00000256844
      Conserved Domains (4) summary
      cd03244
      Location:11391321
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      cl00549
      Location:8071092
      ABC_membrane; ABC transporter transmembrane region
      TIGR01271
      Location:851319
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    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
      48164842..48249973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023801.1XP_016879290.1  

    2. XM_017023795.1XP_016879284.1  

      Related
      ENSP00000349017, OTTHUMP00000164191, ENST00000356608, OTTHUMT00000256843
      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    3. XM_017023797.1XP_016879286.1  

      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    4. XM_017023798.1XP_016879287.1  

      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    5. XM_017023800.1XP_016879289.1  

      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    6. XM_017023796.1XP_016879285.1  

      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    7. XM_017023799.1XP_016879288.1  

      Conserved Domains (4) summary
      cd03244
      Location:11391359
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:517709
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:851357
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:8101087
      ABC_membrane; ABC transporter transmembrane region
    8. XM_011523397.1XP_011521699.1  

      See identical proteins and their annotated locations for XP_011521699.1

      Conserved Domains (5) summary
      TIGR03608
      Location:208386
      L_ocin_972_ABC; putative bacteriocin export ABC transporter, lactococcin 972 group
      cd03244
      Location:8201040
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:198390
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      COG1132
      Location:4891057
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl00549
      Location:488773
      ABC_membrane; ABC transporter transmembrane region
    9. XM_017023802.1XP_016879291.1  

    10. XM_011523398.2XP_011521700.1  

      Conserved Domains (4) summary
      cd03244
      Location:516736
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      COG1132
      Location:185753
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl00549
      Location:184469
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:186
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    11. XM_017023803.1XP_016879292.1  

    RNA

    1. XR_001752012.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      49608716..49676972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)