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    CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [ Homo sapiens (human) ]

    Gene ID: 1080, updated on 30-Aug-2015
    Official Symbol
    CFTRprovided by HGNC
    Official Full Name
    cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)provided by HGNC
    Primary source
    HGNC:HGNC:1884
    See related
    Ensembl:ENSG00000001626; HPRD:03883; MIM:602421; Vega:OTTHUMG00000023076
    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. 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 that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    See CFTR in Epigenomics, MapViewer
    Location:
    7q31.2
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (117478340..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 ankyrin repeat domain 49 pseudogene Neighboring gene uncharacterized LOC105375468 Neighboring gene uncharacterized LOC105375469 Neighboring gene cortactin binding protein 2 Neighboring gene serine/arginine-rich splicing factor 3 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Bronchiectasis
    MedGen: C0006267 OMIM: 211400 GeneReviews: Not available
    Compare labs
    Congenital bilateral absence of the vas deferens
    MedGen: C0403814 OMIM: 277180 GeneReviews: CFTR-Related Disorders
    Compare labs
    Cystic fibrosis
    MedGen: C0010674 OMIM: 219700 GeneReviews: CFTR-Related Disorders
    Compare labs
    Hereditary pancreatitis Compare labs
    Ivacaftor response
    MedGen: CN185459 GeneReviews: Not available
    not available

    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
    • ABC transporter disorders, organism-specific biosystem (from REACTOME)
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    • ABC transporters, organism-specific biosystem (from KEGG)
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    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • AMPK signaling pathway, organism-specific biosystem (from KEGG)
      AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • AMPK signaling pathway, conserved biosystem (from KEGG)
      AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Defective CFTR causes cystic fibrosis, organism-specific biosystem (from REACTOME)
      Defective CFTR causes cystic fibrosis, organism-specific biosystemCystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
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    • Pancreatic secretion, organism-specific biosystem (from KEGG)
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    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases regulate CFTR trafficking, organism-specific biosystem (from REACTOME)
      RHO GTPases regulate CFTR trafficking, organism-specific biosystemActivated RHO GTPase RHOQ (TC10) regulates the trafficking of CFTR (cystic fibrosis transmembrane conductance regulator) by binding to GOPC (Golgi-associated and PDZ and coiled-coil motif-containing ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
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    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
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    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
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      Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-binding and phosphorylation-dependent chloride channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    PDZ domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicarbonate transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    channel-conductance-controlling ATPase activity NAS
    Non-traceable Author Statement
    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 transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
     
    bicarbonate transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to cAMP ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    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 
    respiratory gaseous exchange TAS
    Traceable Author Statement
    more info
    PubMed 
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi-associated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with endoplasmic reticulum Sec complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    cystic fibrosis transmembrane conductance regulator
    Names
    cAMP-dependent chloride channel
    channel conductance-controlling ATPase
    NP_000483.3

    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)

    mRNA and Protein(s)

    1. NM_000492.3NP_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/TrEMBL
      A0A024R730
      UniProtKB/Swiss-Prot
      P13569
      Related
      ENSP00000003084, OTTHUMP00000024694, ENST00000003084, OTTHUMT00000059397
      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
      pfam00664
      Location:8621147
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:639850
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      TIGR01271
      Location:11480
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

      Range
      117478340..117668665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515752.1XP_011514054.1  

      Related
      ENSP00000389119, OTTHUMP00000196524, ENST00000426809, OTTHUMT00000316691
      Conserved Domains (5) summary
      cd03291
      Location:419700
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      pfam00664
      Location:8921177
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:669880
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      TIGR01271
      Location:431447
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl21455
      Location:12381447
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_011515751.1XP_011514053.1  

      Conserved Domains (5) summary
      cd03289
      Location:12381510
      ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
      cd03291
      Location:419700
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      pfam00664
      Location:8921177
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:669880
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      TIGR01271
      Location:431510
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    3. XM_011515754.1XP_011514056.1  

      See identical proteins and their annotated locations for XP_011514056.1

      Conserved Domains (5) summary
      cd03289
      Location:11271399
      ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
      cd03291
      Location:308589
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      pfam00664
      Location:7811066
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:558769
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      TIGR01271
      Location:11399
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    4. XM_011515753.1XP_011514055.1  

      See identical proteins and their annotated locations for XP_011514055.1

      Conserved Domains (5) summary
      cd03289
      Location:11271399
      ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
      cd03291
      Location:308589
      ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
      pfam00664
      Location:7811066
      ABC_membrane; ABC transporter transmembrane region
      pfam14396
      Location:558769
      CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
      TIGR01271
      Location:11399
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      117053369..117242163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)