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Cftr cystic fibrosis transmembrane conductance regulator [ Mus musculus (house mouse) ]

Gene ID: 12638, updated on 22-Jan-2023

Summary

Official Symbol
Cftrprovided by MGI
Official Full Name
cystic fibrosis transmembrane conductance regulatorprovided by MGI
Primary source
MGI:MGI:88388
See related
Ensembl:ENSMUSG00000041301 AllianceGenome:MGI:88388
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Abcc7
Summary
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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 which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a chloride channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]
Expression
Biased expression in large intestine adult (RPKM 4.3), testis adult (RPKM 3.6) and 9 other tissues See more
Orthologs
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Genomic context

See Cftr in Genome Data Viewer
Location:
6 A2; 6 8.1 cM
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (18170686..18322769)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (18170687..18322770)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene Cftr promoter region Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene 2'-5' oligoadenylate synthetase 1E pseudogene Neighboring gene cortactin binding protein 2 Neighboring gene predicted gene, 40356 Neighboring gene predicted gene, 23648

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity ISO
Inferred from Sequence Orthology
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
enables Sec61 translocon complex binding ISO
Inferred from Sequence Orthology
more info
 
enables bicarbonate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables bicarbonate transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables chaperone binding ISO
Inferred from Sequence Orthology
more info
 
enables chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
enables chloride channel inhibitor activity ISO
Inferred from Sequence Orthology
more info
 
enables chloride transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables intracellularly ATP-gated chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in amelogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in bicarbonate transport ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to forskolin ISO
Inferred from Sequence Orthology
more info
 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chloride transport IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in chloride transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cholesterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in enamel mineralization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within establishment of localization in cell IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in intracellular pH elevation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lung development ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane hyperpolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organismal-level water homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of type B pancreatic cell development ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of vascular associated smooth muscle cell apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cyclic nucleotide-gated ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cyclic nucleotide-gated ion channel activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of enamel mineralization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of establishment of Sertoli cell barrier ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of exocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of mast cell activation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of voltage-gated chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
NOT involved_in regulation of membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to amiloride ISO
Inferred from Sequence Orthology
more info
 
involved_in response to endoplasmic reticulum stress ISO
Inferred from Sequence Orthology
more info
 
involved_in response to xenobiotic stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in sodium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in sperm capacitation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transepithelial chloride transport ISO
Inferred from Sequence Orthology
more info
 
involved_in transepithelial water transport ISO
Inferred from Sequence Orthology
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in vasodilation ISO
Inferred from Sequence Orthology
more info
 
involved_in vesicle docking involved in exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in water transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in dendrite ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in microvillus ISO
Inferred from Sequence Orthology
more info
 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
located_in recycling endosome ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
cystic fibrosis transmembrane conductance regulator
Names
ATP-binding cassette sub-family C member 7
ATP-binding cassette transporter sub-family C member 7
ATP-binding cassette, subfamily c, member 7
cAMP-dependent chloride channel
channel conductance-controlling ATPase
cystic fibrosis transmembrane conductance regulator homolog
cystic fibrosis transmembrane conductance regulator homolog; ATP-binding cassette, subfamily c, member 7
NP_066388.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_021050.2NP_066388.1  cystic fibrosis transmembrane conductance regulator

    See identical proteins and their annotated locations for NP_066388.1

    Status: REVIEWED

    Source sequence(s)
    AC158663, AC161826, M60493
    Consensus CDS
    CCDS19930.1
    UniProtKB/Swiss-Prot
    P26361, Q9JKQ6
    Related
    ENSMUSP00000049228.6, ENSMUST00000045706.12
    Conserved Domains (1) summary
    TIGR01271
    Location:11464
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    18170686..18322769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)