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    Cftr cystic fibrosis transmembrane conductance regulator [ Mus musculus (house mouse) ]

    Gene ID: 12638, updated on 18-Sep-2016
    Official Symbol
    Cftrprovided by MGI
    Official Full Name
    cystic fibrosis transmembrane conductance regulatorprovided by MGI
    Primary source
    MGI:MGI:88388
    See related
    Ensembl:ENSMUSG00000041301 Vega:OTTMUSG00000024173
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Abcc7; AW495489
    Summary
    The membrane-associated 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 gene encodes the cystic fibrosis transmembrane regulator and a chloride channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    6 A3; 6 8.1 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (18170262..18322774)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (18120687..18272770)

    Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene 2'-5' oligoadenylate synthetase 1E pseudogene Neighboring gene cortactin binding protein 2 Neighboring gene predicted gene, 40356 Neighboring gene predicted gene 5874

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of substances IEA
    Inferred from Electronic Annotation
    more info
     
    PDZ domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    bicarbonate transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    channel-conductance-controlling ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    chloride channel inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    chloride transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bicarbonate transport ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chloride transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    chloride transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular pH elevation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iodide transport ISO
    Inferred from Sequence Orthology
    more info
     
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    lung development ISO
    Inferred from Sequence Orthology
    more info
     
    membrane hyperpolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cyclic nucleotide-gated ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cyclic nucleotide-gated ion channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of insulin secretion involved in cellular response to glucose stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of vasodilation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of voltage-gated chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    NOT regulation of membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sperm capacitation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transepithelial chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    vasodilation ISO
    Inferred from Sequence Orthology
    more info
     
    vesicle docking involved in exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    water transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with endoplasmic reticulum Sec complex ISO
    Inferred from Sequence Orthology
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    microvillus ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    recycling endosome ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    cystic fibrosis transmembrane conductance regulator
    Names
    ATP-binding cassette sub-family C member 7
    ATP-binding cassette transporter sub-family C member 7
    ATP-binding cassette, subfamily c, member 7
    cAMP-dependent chloride channel
    channel conductance-controlling ATPase
    cystic fibrosis transmembrane conductance regulator homolog
    cystic fibrosis transmembrane conductance regulator homolog; ATP-binding cassette, subfamily c, member 7
    NP_066388.1

    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.

    mRNA and Protein(s)

    1. NM_021050.2NP_066388.1  cystic fibrosis transmembrane conductance regulator

      See identical proteins and their annotated locations for NP_066388.1

      Status: REVIEWED

      Source sequence(s)
      AC158663, AC161826, M60493
      Consensus CDS
      CCDS19930.1
      UniProtKB/Swiss-Prot
      P26361
      Related
      ENSMUSP00000049228, OTTMUSP00000028741, ENSMUST00000045706, OTTMUST00000059141
      Conserved Domains (6) summary
      cd03289
      Location:12041464
      ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
      cd03291
      Location:389670
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      TIGR01271
      Location:11464
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:8611142
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:639844
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      cl00549
      Location:85303
      ABC_membrane; ABC transporter transmembrane region

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

      Range
      18170262..18322774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504977.1XP_006505040.1  

      See identical proteins and their annotated locations for XP_006505040.1

      UniProtKB/Swiss-Prot
      P26361
      Conserved Domains (6) summary
      cd03289
      Location:12041464
      ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
      cd03291
      Location:389670
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      TIGR01271
      Location:11464
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:8611142
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:639844
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      cl00549
      Location:85303
      ABC_membrane; ABC transporter transmembrane region
    2. XM_006504978.1XP_006505041.1  

      See identical proteins and their annotated locations for XP_006505041.1

      UniProtKB/Swiss-Prot
      P26361
      Conserved Domains (6) summary
      cd03289
      Location:12041464
      ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
      cd03291
      Location:389670
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      TIGR01271
      Location:11464
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:8611142
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:639844
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      cl00549
      Location:85303
      ABC_membrane; ABC transporter transmembrane region
    3. XM_006504979.3XP_006505042.1  

      Conserved Domains (6) summary
      cd03291
      Location:389670
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      TIGR01271
      Location:11380
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:8611142
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:639844
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      cl00549
      Location:85303
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:11451380
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. XR_377284.1 RNA Sequence

      Related
      ENSMUST00000115405, OTTMUST00000059144
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