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CFTR CF transmembrane conductance regulator [ Oryctolagus cuniculus (rabbit) ]

Gene ID: 100009471, updated on 10-Oct-2024

Summary

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Gene symbol
CFTR
Gene description
CF transmembrane conductance regulator
See related
Ensembl:ENSOCUG00000010733
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Oryctolagus cuniculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
Orthologs
human mouse all
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Genomic context

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See CFTR in Genome Data Viewer
Location:
chromosome: 7
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_02 current UM_NZW_1.0 (GCF_009806435.1) 7 NC_067380.1 (145770301..146110081)

Chromosome 7 - NC_067380.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC127491658 Neighboring gene Wnt family member 2 Neighboring gene glycine cleavage system H protein, mitochondrial-like Neighboring gene ankyrin repeat, SAM and basic leucine zipper domain containing 1 Neighboring gene cyclin-dependent kinases regulatory subunit 2-like Neighboring gene cortactin binding protein 2 Neighboring gene LSM8 homolog, U6 small nuclear RNA associated Neighboring gene ankyrin repeat domain 7

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_067380.1 Chromosome 7 Reference UM_NZW_1.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Cardiac expression of the cystic fibrosis transmembrane conductance regulator involves novel exon 1 usage to produce a unique amino-terminal protein. Davies WL, et al. J Biol Chem, 2004 Apr 16. PMID 14754881
  2. Cystic fibrosis gene encodes a cAMP-dependent chloride channel in heart. Hart P, et al. Proc Natl Acad Sci U S A, 1996 Jun 25. PMID 8692817, Free PMC Article
  3. Cystic fibrosis gene and protein expression during fetal lung development. McGrath SA, et al. Am J Respir Cell Mol Biol, 1993 Feb. PMID 7678968
  4. A cross-species analysis of the cystic fibrosis transmembrane conductance regulator. Potential functional domains and regulatory sites. Diamond G, et al. J Biol Chem, 1991 Nov 25. PMID 1719001
  5. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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
CFTR chloride channel
cAMP-dependent chloride channel
channel conductance-controlling ATPase
chloride channel
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
NP_001076185.1
XP_051703932.1
XP_051703933.1
XP_051703934.1
XP_051703935.1
XP_051703937.1
XP_051703938.1
XP_051703939.1
XP_051703940.1
XP_051703941.1

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_001082716.1 → NP_001076185.1  cystic fibrosis transmembrane conductance regulator

    See identical proteins and their annotated locations for NP_001076185.1

    Status: PROVISIONAL

    Source sequence(s)
    AF189720
    UniProtKB/Swiss-Prot
    Q00554, Q09YM9, Q9TSD4, Q9TTX9, Q9TTY9
    UniProtKB/TrEMBL
    A0A5F9CM45
    Related
    ENSOCUP00000034709.1, ENSOCUT00000040774.1
    Conserved Domains (5) summary
    cd03289
    Location:1209 → 1481
    ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
    cd03291
    Location:389 → 670
    ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
    TIGR01271
    Location:1 → 1481
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:867 → 1147
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639 → 849
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain

RefSeqs of Annotated Genomes: GCF_009806435.1-RS_2023_02

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

Reference UM_NZW_1.0 Primary Assembly

Genomic

  1. NC_067380.1 Reference UM_NZW_1.0 Primary Assembly

    Range
    145770301..146110081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_051847974.1 → XP_051703934.1  cystic fibrosis transmembrane conductance regulator isoform X3

    UniProtKB/TrEMBL
    G1SZW1

  2. XM_051847979.1 → XP_051703939.1  cystic fibrosis transmembrane conductance regulator isoform X4

  3. XM_051847975.1 → XP_051703935.1  cystic fibrosis transmembrane conductance regulator isoform X3

    UniProtKB/TrEMBL
    G1SZW1

  4. XM_051847980.1 → XP_051703940.1  cystic fibrosis transmembrane conductance regulator isoform X4

  5. XM_051847977.1 → XP_051703937.1  cystic fibrosis transmembrane conductance regulator isoform X3

    UniProtKB/TrEMBL
    G1SZW1

  6. XM_051847981.1 → XP_051703941.1  cystic fibrosis transmembrane conductance regulator isoform X4

  7. XM_051847978.1 → XP_051703938.1  cystic fibrosis transmembrane conductance regulator isoform X3

    UniProtKB/TrEMBL
    G1SZW1

  8. XM_051847973.1 → XP_051703933.1  cystic fibrosis transmembrane conductance regulator isoform X2

  9. XM_051847972.1 → XP_051703932.1  cystic fibrosis transmembrane conductance regulator isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q00554.4 GenPept UniProtKB/Swiss-Prot:Q00554

Gene LinkOut

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Molecular Biology Databases
Research Materials