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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 21-Sep-2014
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
Locus tag
tcag7.78
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]
See CFTR in Epigenomics, MapViewer
Location:
7q31.2
Exon count:
31
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (117470772..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, SAM and basic leucine zipper domain containing 1 Neighboring gene ankyrin repeat domain 49 pseudogene Neighboring gene cortactin binding protein 2 Neighboring gene serine/arginine-rich splicing factor 3-like

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: CN032726 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
  • 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...
  • 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...
  • 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...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • 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
 
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
 
chloride channel inhibitor activity IDA
Inferred from Direct Assay
more info
 
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
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
bicarbonate transport IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
chloride transmembrane transport IDA
Inferred from Direct Assay
more info
 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
chloride transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
chloride transmembrane transport TAS
Traceable Author Statement
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
 
iodide transport IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
membrane hyperpolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of vasodilation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of voltage-gated chloride channel activity IDA
Inferred from Direct Assay
more info
 
respiratory gaseous exchange TAS
Traceable Author Statement
more info
PubMed 
response to cytokine IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
sperm capacitation ISS
Inferred from Sequence or Structural Similarity
more info
 
transepithelial chloride transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
water transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
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 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
microvillus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cystic fibrosis transmembrane conductance regulator
Names
cystic fibrosis transmembrane conductance regulator
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_016465.3 

    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 proteins identical to 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
    TIGR01271
    Location:11480
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:8621147
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639850
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    117470772..117668665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715842.1XP_006715905.1  

    Conserved Domains (5) summary
    cd03289
    Location:13161588
    ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
    cd03291
    Location:497778
    ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
    TIGR01271
    Location:1261588
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:9701255
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:747958
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    111485640..111674189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

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