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CFTR cystic fibrosis transmembrane conductance regulator [ Homo sapiens (human) ]

Gene ID: 1080, updated on 23-May-2018
Official Symbol
CFTRprovided by HGNC
Official Full Name
cystic fibrosis transmembrane conductance regulatorprovided by HGNC
Primary source
HGNC:HGNC:1884
See related
Ensembl:ENSG00000001626 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. 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
See CFTR in Genome Data Viewer
Location:
7q31.2
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (117479963..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 -35 kb upstream enhancer of CFTR Neighboring gene uncharacterized LOC105375468 Neighboring gene DNAse I hypersensitive site -20 kb upstream of CFTR Neighboring gene CFTR promoter region Neighboring gene CFTR intron 1 enhancer Neighboring gene CFTR antisense RNA 1 Neighboring gene DNase I hypersensitive site ab in intron 10 of CFTR Neighboring gene DNase I hypersensitive site c in intron 10 of CFTR Neighboring gene CFTR enhancer in intron 11 Neighboring gene DNase I hypersensitive region in introns 16 and 17 of CFTR Neighboring gene CFTR enhancer in intron 20 Neighboring gene CFTR enhancer in intron 21 Neighboring gene CFTR enhancer in intron 23 Neighboring gene DNase I hypersensitive region 5 to 7 kb downstream of CFTR Neighboring gene DNase I hypersensitive region 15 kb downstream of CFTR

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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)
    ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific 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 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...
  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • 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...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • 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)
    Gastric acid secretion, conserved 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...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Pancreatic secretion, organism-specific biosystem (from KEGG)
    Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • Pancreatic secretion, conserved biosystem (from KEGG)
    Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • 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)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific 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, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    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, ...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
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
 
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 
ATPase-coupled anion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
PDZ domain 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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP hydrolysis coupled anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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
 
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 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
 
colocalizes_with endoplasmic reticulum Sec complex IDA
Inferred from Direct Assay
more info
PubMed 
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
 
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

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/Swiss-Prot
    P13569
    UniProtKB/TrEMBL
    A0A024R730
    Related
    ENSP00000003084.6, OTTHUMP00000024694, ENST00000003084.10, 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
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    117479963..117668665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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