DegronMD - P13569(CFTR)

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}. View more >>

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GO - Molecular function (MF): View more >>

GO - Cellular component (CC): View more >>

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.A789S	TCGA-AP-A051	UCEC	TCGA	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.1389
p.A789S	TCGA-AX-A0J0	UCEC	TCGA	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.1389
p.Q799K	TCGA-CV-7415	HNSC	TCGA	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.5833
p.Q799K	SIDM00145	T-Lymphoblastic Leukemia	GDSC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.5833
p.Q799K	SIDM00153	T-Lymphoblastic Leukemia	GDSC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.5833
p.Q799K	ACH-000964	Leukemia	CCLE	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.5833
p.Q799K	ACH-001127	Leukemia	CCLE	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.5833
p.Q799K	MOLT-4	haematopoietic and lymphoid tissue	COSMIC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.5833
p.P798L	TCGA-Z2-A8RT	SKCM	TCGA	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.7582
p.P798L	DO51301	SKCM	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.7582
p.E812Q	DO51878	BLCA	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.1944
p.V807I	DO14159	HNSC	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.7076
p.V794F	DO228985	LICA	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.2778
p.R790Q	DO222847	MELA	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation blocking phosphorylation signal	0.6111
p.F800S	DO233298	NACA	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.7982
p.V794A	DO46591	OV	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.2778
p.I799L	DO47813	STAD	ICGC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation altering degron motif	0.7174
p.Q814L	SIDM00130	Pancreatic Carcinoma	GDSC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.1389
p.Q814L	ACH-000138	Pancreatic Cancer	CCLE	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.1389
p.Q814L	CFPAC-1	pancreas	COSMIC	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.1389
p.G817C	ACH-000659	Lung Cancer	CCLE	LAPQANLTELDI	DEG_ODPH_VHL_1	796:807	Mutation rewiring degron network	0.0556

DegronMD: protein-targeted degradation, mutation and drug response to degrons

CFTR

UniProt ID: P13569

Entrez ID: 1080

Protein name: Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for CFTR in