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

Gene ID: 12638, updated on 3-Sep-2019

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
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; AW495489
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

Genomic context

See Cftr in Genome Data Viewer
Location:
6 A2; 6 8.1 cM
Exon count:
27
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (18170687..18322770)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (18120687..18272770)

Chromosome 6 - NC_000072.6Genomic 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 U6 spliceosomal RNA

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity ISO
Inferred from Sequence Orthology
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
Sec61 translocon complex binding ISO
Inferred from Sequence Orthology
more info
 
bicarbonate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
bicarbonate transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
chaperone binding ISO
Inferred from Sequence Orthology
more info
 
chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
chloride channel inhibitor activity ISO
Inferred from Sequence Orthology
more info
 
chloride transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enzyme binding ISO
Inferred from Sequence Orthology
more info
 
intracellularly ATP-gated chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
isomerase activity IEA
Inferred from Electronic Annotation
more info
 
nucleotide binding 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 ISO
Inferred from Sequence Orthology
more info
 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to forskolin ISO
Inferred from Sequence Orthology
more info
 
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 
chloride transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
chloride transport IGI
Inferred from Genetic Interaction
more info
PubMed 
chloride transport ISO
Inferred from Sequence Orthology
more info
 
cholesterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular pH elevation IMP
Inferred from Mutant Phenotype
more info
PubMed 
iodide transport ISO
Inferred from Sequence Orthology
more info
 
ion transport IEA
Inferred from Electronic Annotation
more info
 
lung development ISO
Inferred from Sequence Orthology
more info
 
membrane hyperpolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organismal water homeostasis ISO
Inferred from Sequence Orthology
more info
 
negative regulation of type B pancreatic cell development ISO
Inferred from Sequence Orthology
more info
 
negative regulation of vascular associated smooth muscle cell apoptotic process ISO
Inferred from Sequence Orthology
more info
 
positive regulation of blood vessel diameter ISO
Inferred from Sequence Orthology
more info
 
positive regulation of cyclic nucleotide-gated ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cyclic nucleotide-gated ion channel activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of establishment of Sertoli cell barrier ISO
Inferred from Sequence Orthology
more info
 
positive regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of exocytosis ISO
Inferred from Sequence Orthology
more info
 
positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of insulin secretion involved in cellular response to glucose stimulus ISO
Inferred from Sequence Orthology
more info
 
positive regulation of mast cell activation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of voltage-gated chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
NOT regulation of membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to endoplasmic reticulum stress ISO
Inferred from Sequence Orthology
more info
 
sperm capacitation IMP
Inferred from Mutant Phenotype
more info
PubMed 
transepithelial chloride transport ISO
Inferred from Sequence Orthology
more info
 
transepithelial water transport ISO
Inferred from Sequence Orthology
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vasodilation ISO
Inferred from Sequence Orthology
more info
 
vesicle docking involved in exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
water transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
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 ISO
Inferred from Sequence Orthology
more info
 
basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
cell surface ISO
Inferred from Sequence Orthology
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytoplasmic vesicle membrane ISO
Inferred from Sequence Orthology
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISO
Inferred from Sequence Orthology
more info
 
dendrite ISO
Inferred from Sequence Orthology
more info
 
early endosome ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with early endosome ISO
Inferred from Sequence Orthology
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane ISO
Inferred from Sequence Orthology
more info
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microvillus ISO
Inferred from Sequence Orthology
more info
 
neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
nucleus ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
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)

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
    Related
    ENSMUSP00000049228.5, ENSMUST00000045706.11
    Conserved Domains (6) summary
    cd03289
    Location:12041464
    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:11464
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:8611142
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639844
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
    cl00549
    Location:85303
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p6 C57BL/6J

    Range
    18170687..18322770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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