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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

Gene LinkOut

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Research Materials
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