Format

Send to:

Choose Destination
    • Showing Current items.

    CFTR CF transmembrane conductance regulator [ Homo sapiens (human) ]

    Gene ID: 1080, updated on 16-Feb-2020

    Summary

    Official Symbol
    CFTRprovided by HGNC
    Official Full Name
    CF transmembrane conductance regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:1884
    See related
    Ensembl:ENSG00000001626 MIM:602421
    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
    CF; MRP7; ABC35; ABCC7; CFTR/MRP; TNR-CFTR; dJ760C5.1
    Summary
    This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
    Expression
    Biased expression in gall bladder (RPKM 28.8), colon (RPKM 22.3) and 6 other tissues See more
    Orthologs

    Genomic context

    See CFTR in Genome Data Viewer
    Location:
    7q31.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (117480025..117668665)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117120017..117308719)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375468 Neighboring gene DNase I hypersensitive site -20.9 kb upstream of CFTR Neighboring gene greater CFTR locus negative regulatory element NR9 Neighboring gene CFTR promoter region Neighboring gene CFTR intron 1 enhancer Neighboring gene CFTR intron 2 DNase I hypersensitive site Neighboring gene CFTR intron 3 DNase I hypersensitive site Neighboring gene greater CFTR locus negative regulatory element CR19 Neighboring gene CFTR antisense RNA 1 Neighboring gene greater CFTR locus negative regulatory element CR20 Neighboring gene DNase I hypersensitive sites in intron 10ab of CFTR Neighboring gene DNase I hypersensitive site in intron 10c of CFTR Neighboring gene CFTR intron 11 enhancer Neighboring gene DNase I hypersensitive sites in introns 16 and 17a of CFTR Neighboring gene CFTR intron 18a DNase I hypersensitive site Neighboring gene DNase I hypersensitive site in intron 18 of CFTR Neighboring gene CFTR intron 18b DNase I hypersensitive site Neighboring gene CFTR intron 19 DNase I hypersensitive site Neighboring gene CFTR intron 20 enhancer Neighboring gene CFTR intron 21 enhancer Neighboring gene CFTR intron 23 enhancer Neighboring gene DNase I hypersensitive region 5.4 to 7.4 kb downstream of CFTR Neighboring gene DNase I hypersensitive region 15.6 kb downstream of CFTR

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.
    NHGRI GWA Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    NHGRI GWA Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    PDZ domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Sec61 translocon complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicarbonate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicarbonate transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chloride channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride channel regulator activity TAS
    Traceable Author Statement
    more info
     
    chloride transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chloride transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    intracellularly ATP-gated chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellularly ATP-gated chloride channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    bicarbonate transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to cAMP ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to forskolin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular pH elevation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane hyperpolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    multicellular organismal water homeostasis 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 exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of insulin secretion involved in cellular response to glucose stimulus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of voltage-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    response to endoplasmic reticulum stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transepithelial water transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    vesicle docking involved in exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi-associated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cystic fibrosis transmembrane conductance regulator
    Names
    cAMP-dependent chloride channel
    channel conductance-controlling ATPase
    cystic fibrosis transmembrane conductance regulating
    cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
    NP_000483.3

    NCBI Reference Sequences (RefSeq)

    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_016465.4 RefSeqGene

      Range
      19180..207882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_663

    mRNA and Protein(s)

    1. NM_000492.4NP_000483.3  cystic fibrosis transmembrane conductance regulator

      See identical proteins and their annotated locations for NP_000483.3

      Status: REVIEWED

      Source sequence(s)
      AC000061, AC000111, M28668
      Consensus CDS
      CCDS5773.1
      UniProtKB/Swiss-Prot
      P13569
      UniProtKB/TrEMBL
      A0A024R730
      Related
      ENSP00000003084.6, ENST00000003084.11
      Conserved Domains (5) summary
      cd03289
      Location:12081480
      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:11480
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:8661147
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:639849
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      117480025..117668665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center