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CFTR
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
Protein class
Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Transporters
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Group enriched (Ductal cells, Ionocytes)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Group enriched (CACO-2, MOLT-4, U-266/70)
Interaction
Monomer; does not require oligomerization for channel activity (PubMed:11524016). May form oligomers in the membrane (PubMed:11524016). Interacts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with SLC9A3R1 and MYO6 (PubMed:12403779, PubMed:15247260, PubMed:11304524). Interacts (via C-terminus) with GOPC (via PDZ domain); this promotes CFTR internalization and thereby decreases channel activity (PubMed:11707463, PubMed:16331976). Interacts with SLC4A7 through SLC9A3R1 (PubMed:12403779). Found in a complex with MYO5B and RAB11A (PubMed:17462998). Interacts with ANO1 (PubMed:22178883). Interacts with SLC26A8 (PubMed:22121115). Interacts with AHCYL1; the interaction increases CFTR activity (By similarity). Interacts with CSE1L (PubMed:20933420). The core-glycosylated form interacts with GORASP2 (via PDZ GRASP-type 1 domain) in respone to ER stress (PubMed:21884936). Interacts with MARCHF2; the interaction leads to CFTR ubiqtuitination and degradation (PubMed:23818989).
Molecular function
Chloride channel, Ion channel, Isomerase
More Types Infomation
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- Species Reactivity: Human
- Type: Camelid VHH
- Application: Thermal shift assay (DSF), Isothermal titration microcalorimertry (ITC), Differential scanning calorimetry (DSC), FC, Pull-down, ELISA, FuncS
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- Species Reactivity: Human
- Type: Camelid VHH
- Application: Thermal shift assay (DSF), Isothermal titration microcalorimertry (ITC), Differential scanning calorimetry (DSC), FC, pull-down, ELISA, FuncS
-
- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1
- Application: WB, IF, IHC
- Mouse Anti-CFTR Recombinant Antibody (clone CF3) (NEUT-458CQ)
-
- Species Reactivity: Human, Mouse, Chicken, Rat
- Type: Mouse IgM
- Application: Block, FC, ICC, IF, IHC, IHC-P, IP, WB
-
- Species Reactivity: Human
- Application: FC, IHC-Fr, IHC-P
- Rabbit Anti-CFTR Polyclonal Antibody (MRO-1772-CN) (MRO-1772-CN)
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, IF, IHC, FC
- Camelid Anti-CFTR Recombinant Single Domain Antibody (NBD-0022-YJ-VHH) (NBD-0022-YJ-VHH)
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- Species Reactivity: Human
- Type: Camelid VHH
- Application: ELISA, Thermal stabilization
- Camelid Anti-CFTR Recombinant Single Domain Antibody (NBD-0021-YJ-VHH) (NBD-0021-YJ-VHH)
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- Species Reactivity: Human
- Type: Camelid VHH
- Application: ELISA, Thermal stabilization
- Camelid Anti-CFTR Recombinant Single Domain Antibody (NBD-0020-YJ-VHH) (NBD-0020-YJ-VHH)
-
- Species Reactivity: Human
- Type: Camelid VHH
- Application: ELISA
- Camelid Anti-CFTR Recombinant Single Domain Antibody (NBD-0019-YJ-VHH) (NBD-0019-YJ-VHH)
-
- Species Reactivity: Human
- Type: Camelid VHH
- Application: ELISA, Thermal stabilization
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For Research Use Only. Not For Clinical Use.