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    CFTR CF transmembrane conductance regulator [ Ovis aries (sheep) ]

    Gene ID: 443347, updated on 5-Mar-2024

    Summary

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    Gene symbol
    CFTR
    Gene description
    CF transmembrane conductance regulator
    See related
    EnsemblRapid:ENSOARG00020016363
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Ovis aries
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    chromosome: 4
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current ARS-UI_Ramb_v3.0 (GCF_016772045.2) 4 NC_056057.1 (52249612..52438143, complement)

    Chromosome 4 - NC_056057.1Genomic Context describing neighboring genes Neighboring gene cortactin binding protein 2 Neighboring gene U6 spliceosomal RNA Neighboring gene uncharacterized LOC121819401 Neighboring gene ankyrin repeat, SAM and basic leucine zipper domain containing 1 Neighboring gene Wnt family member 2

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_056057.1 Chromosome 4 Reference ARS-UI_Ramb_v3.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Transcriptomic analysis of lung development in wildtype and CFTR(-/-) sheep suggests an early inflammatory signature in the CF distal lung. Kerschner JL, et al. Funct Integr Genomics, 2023 Apr 22. PMID 37085733, Free PMC Article
    2. Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating. Cai Z, et al. J Physiol, 2015 Jun 1. PMID 25763566, Free PMC Article
    3. The cystic fibrosis transmembrane conductance regulator and chloride-dependent ion fluxes of ovine vocal fold epithelium. Leydon C, et al. J Speech Lang Hear Res, 2009 Jun. PMID 18806217
    4. Genetic variation within the ovine cystic fibrosis transmembrane conductance regulator gene. Tebbutt SJ, et al. Mutat Res, 1998 May. PMID 9691989
    5. Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene. Tebbutt SJ, et al. Proc Natl Acad Sci U S A, 1995 Mar 14. PMID 7534416, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcriptomic analysis of lung development in wildtype and CFTR[-/-] sheep suggests an early inflammatory signature in the CF distal lung.
      Title: Transcriptomic analysis of lung development in wildtype and CFTR(-/-) sheep suggests an early inflammatory signature in the CF distal lung.
    2. Impact of the F508del mutation on ovine CFTR, a Chloride channel with enhanced conductance and ATP-dependent gating
      Title: Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.
    3. study provides evidence that CFTR proteins form functional channels that offer a pathway for transepithelial chloride fluxes across ovine vocal fold epithelial cells
      Title: The cystic fibrosis transmembrane conductance regulator and chloride-dependent ion fluxes of ovine vocal fold epithelium.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    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
    cAMP-dependent chloride channel
    channel conductance-controlling ATPase
    cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
    NP_001009781.1
    XP_042104234.1
    XP_042104235.1

    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_001009781.1 → NP_001009781.1  cystic fibrosis transmembrane conductance regulator

      See identical proteins and their annotated locations for NP_001009781.1

      Status: PROVISIONAL

      Source sequence(s)
      U20418
      UniProtKB/Swiss-Prot
      Q00555, Q09YI2, Q28544
      UniProtKB/TrEMBL
      W5Q9T1
      Related
      ENSOARP00020021276.2, ENSOART00020025666.2
      Conserved Domains (6) summary
      cd03291
      Location:389 → 669
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      TIGR01271
      Location:1 → 1469
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:913 → 1147
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:638 → 849
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      cl00549
      Location:85 → 306
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:1209 → 1469
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_016772045.2-RS_2023_10

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

    Reference ARS-UI_Ramb_v3.0 Primary Assembly

    Genomic

    1. NC_056057.1 Reference ARS-UI_Ramb_v3.0 Primary Assembly

      Range
      52249612..52438143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_042248301.1 → XP_042104235.1  cystic fibrosis transmembrane conductance regulator isoform X2

      UniProtKB/TrEMBL
      A0A836D6A7
      Conserved Domains (1) summary
      TIGR01271
      Location:53 → 1443
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

    2. XM_042248300.1 → XP_042104234.1  cystic fibrosis transmembrane conductance regulator isoform X1

      UniProtKB/TrEMBL
      A0A836D6A7
      Related
      ENSOARP00020044512.1, ENSOART00020056913.1
      Conserved Domains (1) summary
      TIGR01271
      Location:53 → 1503
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00555.2 GenPept UniProtKB/Swiss-Prot:Q00555

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