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

Gene ID: 12638, updated on 26-Aug-2014
Official Symbol
Cftrprovided by MGI
Official Full Name
cystic fibrosis transmembrane conductance regulatorprovided by MGI
Primary source
MGI:88388
See related
Ensembl:ENSMUSG00000041301; Vega:OTTMUSG00000024173
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; 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]
See Cftr in Epigenomics, MapViewer
Location:
6 A3; 6 8.1 cM
Exon count:
28
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 6 NC_000072.6 (18170262..18322774)

Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes 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 5874

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 biosystemcomputationally inferred pathway (not manually curated)
  • 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 biosystemcomputationally inferred pathway (not manually curated)
  • 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 MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IEA
Inferred from Electronic Annotation
more info
 
PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
bicarbonate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 
channel-conductance-controlling ATPase activity IEA
Inferred from Electronic Annotation
more info
 
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
 
enzyme binding ISO
Inferred from Sequence Orthology
more info
 
hydrolase 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
 
Process Evidence Code Pubs
bicarbonate transport IMP
Inferred from Mutant Phenotype
more info
 
bicarbonate transport ISO
Inferred from Sequence Orthology
more info
 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
 
chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 
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
 
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
 
positive regulation of vasodilation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of voltage-gated chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
sperm capacitation IMP
Inferred from Mutant Phenotype
more info
 
transepithelial chloride transport ISO
Inferred from Sequence Orthology
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transport IEA
Inferred from Electronic Annotation
more info
 
vasodilation ISO
Inferred from Sequence Orthology
more info
 
water transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
cell IMP
Inferred from Mutant Phenotype
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
 
early endosome ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with endoplasmic reticulum Sec complex ISO
Inferred from Sequence Orthology
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular IMP
Inferred from Mutant Phenotype
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
microvillus ISO
Inferred from Sequence Orthology
more info
 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 
protein complex ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
cystic fibrosis transmembrane conductance regulator
Names
cystic fibrosis transmembrane conductance regulator
cAMP-dependent chloride channel
channel conductance-controlling ATPase
ATP-binding cassette sub-family C member 7
ATP-binding cassette, subfamily c, member 7
ATP-binding cassette transporter sub-family C member 7
cystic fibrosis transmembrane conductance regulator homolog
cystic fibrosis transmembrane conductance regulator homolog; ATP-binding cassette, subfamily c, member 7
NP_066388.1

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 proteins identical to NP_066388.1

    Status: REVIEWED

    Source sequence(s)
    AC158663, AC161826, M60493
    Consensus CDS
    CCDS19930.1
    UniProtKB/Swiss-Prot
    P26361
    Related
    ENSMUSP00000049228, OTTMUSP00000028741, ENSMUST00000045706, OTTMUST00000059141
    Conserved Domains (5) summary
    cd03289
    Location:12041464
    Blast Score: 1323
    ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
    cd03291
    Location:389670
    Blast Score: 1469
    ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
    TIGR01271
    Location:11464
    Blast Score: 6197
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:8571142
    Blast Score: 441
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639845
    Blast Score: 978
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

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

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000072.6 

    Range
    18170262..18322774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006504977.1XP_006505040.1  

    See proteins identical to XP_006505040.1

    UniProtKB/Swiss-Prot
    P26361
    Conserved Domains (5) summary
    cd03289
    Location:12041464
    Blast Score: 1323
    ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
    cd03291
    Location:389670
    Blast Score: 1469
    ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
    TIGR01271
    Location:11464
    Blast Score: 6197
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:8571142
    Blast Score: 441
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639845
    Blast Score: 978
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
  2. XM_006504978.1XP_006505041.1  

    See proteins identical to XP_006505041.1

    UniProtKB/Swiss-Prot
    P26361
    Conserved Domains (5) summary
    cd03289
    Location:12041464
    Blast Score: 1323
    ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
    cd03291
    Location:389670
    Blast Score: 1469
    ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
    TIGR01271
    Location:11464
    Blast Score: 6197
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:8571142
    Blast Score: 441
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639845
    Blast Score: 978
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
  3. XM_006504979.1XP_006505042.1  

    Conserved Domains (5) summary
    cd03291
    Location:389670
    Blast Score: 1470
    ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
    TIGR01271
    Location:11380
    Blast Score: 5830
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:8571142
    Blast Score: 438
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639845
    Blast Score: 981
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain
    cl17201
    Location:11451380
    Blast Score: 1167
    ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain

RNA

  1. XR_377285.1 RNA Sequence

  2. XR_377284.1 RNA Sequence

Alternate Mm_Celera

Genomic

  1. AC_000028.1 

    Range
    18244038..18394318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)