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

Gene ID: 1080, updated on 24-Nov-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
109.20201120 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

Associated conditions

Description Tests
Bronchiectasis with or without elevated sweat chloride 1
MedGen: C2749757 OMIM: 211400 GeneReviews: Not available
Compare labs
Congenital bilateral aplasia of vas deferens from CFTR mutation Compare labs
Cystic fibrosis Compare labs
Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.
GeneReviews: Not available
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available
Hereditary pancreatitis Compare labs
Ivacaftor response
MedGen: CN185459 GeneReviews: Not available
Compare labs

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-coupled transmembrane transporter activity 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 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 109.20201120

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)
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