Cftr CF transmembrane conductance regulator [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Cftrprovided by RGD
Official Full Name: CF transmembrane conductance regulatorprovided by RGD
Primary source: RGD:2332
See related: EnsemblRapid:ENSRNOG00000055103 AllianceGenome:RGD:2332
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1561193
Summary: Predicted to enable several functions, including 14-3-3 protein binding activity; ATP hydrolysis activity; and PDZ domain binding activity. Involved in several processes, including bicarbonate transport; cellular response to anoxia; and regulation of cell development. Located in several cellular components, including basolateral plasma membrane; early endosome; and microvillus. Used to study congenital bilateral absence of vas deferens; cystic fibrosis; dental enamel hypoplasia; duodenal ulcer; and gastric ulcer. Biomarker of autosomal recessive polycystic kidney disease; cholestasis; and salpingitis. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Testes (RPKM 31.8), Lung (RPKM 28.8) and 5 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 4q22

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	4	NC_086022.1 (47422084..47694646)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	4	NC_051339.1 (46561269..46728759)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	4	NC_005103.4 (42693263..42860679)

Chromosome 4 - NC_086022.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The inhibition of CFTR in the descended testis of SD rats with unilateral cryptorchidism induced by di-(2-ethylhexyl) phthalate (DEHP).
Title: The inhibition of CFTR in the descended testis of SD rats with unilateral cryptorchidism induced by di-(2-ethylhexyl) phthalate (DEHP).
CFTR Suppresses Neointimal Formation Through Attenuating Proliferation and Migration of Aortic Smooth Muscle Cells.
Title: CFTR Suppresses Neointimal Formation Through Attenuating Proliferation and Migration of Aortic Smooth Muscle Cells.
Involvement of CFTR in the pathogenesis of pulmonary arterial hypertension.
Title: Involvement of CFTR in the pathogenesis of pulmonary arterial hypertension.
Cystic fibrosis transmembrane conductance regulator-associated ligand protects dopaminergic neurons by differentially regulating metabotropic glutamate receptor 5 in the progression of neurotoxin 6-hydroxydopamine-induced Parkinson's disease model.
Title: Cystic fibrosis transmembrane conductance regulator-associated ligand protects dopaminergic neurons by differentially regulating metabotropic glutamate receptor 5 in the progression of neurotoxin 6-hydroxydopamine-induced Parkinson's disease model.
Cystic fibrosis transmembrane conductance regulator-dependent bicarbonate entry controls rat cardiomyocyte ATP release via pannexin1 through mitochondrial signalling and caspase activation.
Title: Cystic fibrosis transmembrane conductance regulator-dependent bicarbonate entry controls rat cardiomyocyte ATP release via pannexin1 through mitochondrial signalling and caspase activation.
Heterogeneous expression of CFTR in insulin-secreting beta-cells of the normal human islet.
Title: Heterogeneous expression of CFTR in insulin-secreting β-cells of the normal human islet.
Cellular mechanism underlying oxytocin-stimulated Cl(-) secretion in rat cauda epididymal epithelium.
Title: Cellular mechanism underlying oxytocin-stimulated Cl(-) secretion in rat cauda epididymal epithelium.
TRPV4 and purinergic receptor signalling pathways are separately linked in airway epithelia to CFTR and TMEM16A chloride channels.
Title: TRPV4 and purinergic receptor signalling pathways are separately linked in airway epithelia to CFTR and TMEM16A chloride channels.
CFTR activation protects brain tissue against IR-induced apoptosis and oxidative stress. CFTR disruption enhances H2O2-induced neuronal apoptosis and CFTR loss leads to mitochondrial oxidative stress. CFTR regulates IR-induced neuronal apoptosis via mitochondrial oxidative stress.
Title: CFTR prevents neuronal apoptosis following cerebral ischemia reperfusion via regulating mitochondrial oxidative stress.
Intact CFTR (cystic fibrosis transmembrane conductance regulator) function is crucial for proper airway, pancreatic, and reproductive tract functions by regulating chloride and bicarbonate transport at the epithelial surface.
Title: Maternal Smoking Induces Acquired CFTR Dysfunction in Neonatal Rats.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH142188 (e-PCR)
- UniSTS:231438

G63881 (e-PCR)
- UniSTS:140869

G63882 (e-PCR)
- UniSTS:140870

G63879 (e-PCR)
- UniSTS:140871

G63880 (e-PCR)
- UniSTS:140873

D4Wox54 (e-PCR)
- UniSTS:518780

CFTR (e-PCR), detects polymorphism
- UniSTS:253408

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IEA Inferred from Electronic Annotation more info
enables 14-3-3 protein binding	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables Sec61 translocon complex binding	IEA Inferred from Electronic Annotation more info
enables Sec61 translocon complex binding	ISO Inferred from Sequence Orthology more info
enables bicarbonate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables bicarbonate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables bicarbonate transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride channel activity	IEA Inferred from Electronic Annotation more info
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride channel inhibitor activity	IEA Inferred from Electronic Annotation more info
enables chloride channel inhibitor activity	ISO Inferred from Sequence Orthology more info
enables chloride channel inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables chloride transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables intracellularly ATP-gated chloride channel activity	IEA Inferred from Electronic Annotation more info
enables intracellularly ATP-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
enables intracellularly ATP-gated chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in amelogenesis	IEA Inferred from Electronic Annotation more info
involved_in amelogenesis	ISO Inferred from Sequence Orthology more info
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info
involved_in bicarbonate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicarbonate transport	ISO Inferred from Sequence Orthology more info
involved_in bicarbonate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to anoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	ISO Inferred from Sequence Orthology more info
involved_in cellular response to cAMP	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to forskolin	IEA Inferred from Electronic Annotation more info
involved_in cellular response to forskolin	ISO Inferred from Sequence Orthology more info
involved_in cellular response to forskolin	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to heat	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hormone stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chloride transport	ISO Inferred from Sequence Orthology more info
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within establishment of localization in cell	ISO Inferred from Sequence Orthology more info
involved_in intracellular pH elevation	IEA Inferred from Electronic Annotation more info
involved_in intracellular pH elevation	ISO Inferred from Sequence Orthology more info
involved_in intracellular pH elevation	ISS Inferred from Sequence or Structural Similarity more info
involved_in liver regeneration	IEP Inferred from Expression Pattern more info	PubMed
involved_in lung development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane hyperpolarization	IEA Inferred from Electronic Annotation more info
involved_in membrane hyperpolarization	ISO Inferred from Sequence Orthology more info
involved_in membrane hyperpolarization	ISS Inferred from Sequence or Structural Similarity more info
involved_in multicellular organismal-level water homeostasis	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	ISO Inferred from Sequence Orthology more info
involved_in multicellular organismal-level water homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of type B pancreatic cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell apoptotic process	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	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of enamel mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of establishment of Sertoli cell barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of exocytosis	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of voltage-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
NOT involved_in regulation of membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in response to cytokine	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estrogen	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to peptide hormone	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm capacitation	IEA Inferred from Electronic Annotation more info
involved_in sperm capacitation	ISO Inferred from Sequence Orthology more info
involved_in sperm capacitation	ISS Inferred from Sequence or Structural Similarity more info
involved_in transepithelial chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transepithelial water transport	IEA Inferred from Electronic Annotation more info
involved_in transepithelial water transport	ISO Inferred from Sequence Orthology more info
involved_in transepithelial water transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasodilation	IDA Inferred from Direct Assay more info	PubMed
involved_in vasodilation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle docking involved in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in vesicle docking involved in exocytosis	ISO Inferred from Sequence Orthology more info
involved_in water transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation 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
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity 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
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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; cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator homolog

NP_113694.1

EC 5.6.1.6

XP_006236159.2

EC 5.6.1.6

XP_038962935.1

EC 5.6.1.6

XP_063141583.1

EC 5.6.1.6

XP_063141584.1

EC 5.6.1.6

XP_063141585.1

EC 5.6.1.6

NCBI Reference Sequences (RefSeq)

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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)

NM_031506.1 → NP_113694.1 cystic fibrosis transmembrane conductance regulator

See identical proteins and their annotated locations for NP_113694.1

Status: PROVISIONAL

Source sequence(s)

DP000027

UniProtKB/Swiss-Prot

P34158, Q2IBD3

UniProtKB/TrEMBL

A0A8I6AKF6, A6IE40

Related

ENSRNOP00000094868.1, ENSRNOT00000113457.2

Conserved Domains (1) summary

TIGR01271
Location:1 → 1464

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086022.1 Reference GRCr8

Range

47422084..47694646

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063285515.1 → XP_063141585.1 cystic fibrosis transmembrane conductance regulator isoform X5

UniProtKB/TrEMBL

A0A8I6AKF6
XM_063285514.1 → XP_063141584.1 cystic fibrosis transmembrane conductance regulator isoform X4

UniProtKB/TrEMBL

A0A8I6AKE9
XM_063285513.1 → XP_063141583.1 cystic fibrosis transmembrane conductance regulator isoform X2

UniProtKB/TrEMBL

A0A8I6AKE9
XM_006236097.5 → XP_006236159.2 cystic fibrosis transmembrane conductance regulator isoform X1

UniProtKB/TrEMBL

A0A0G2K3B1, A0A8I6AKE9

Related

ENSRNOP00000072565.1, ENSRNOT00000085043.3
XM_039107007.2 → XP_038962935.1 cystic fibrosis transmembrane conductance regulator isoform X3

UniProtKB/Swiss-Prot

P34158, Q2IBD3

UniProtKB/TrEMBL

A0A8I6AKF6, A6IE40

Conserved Domains (1) summary

TIGR01271
Location:1 → 1464

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)