HUMAN:CFTR

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	CFTR (synonyms: ABCC7)
Protein Name(s)	Cystic fibrosis transmembrane conductance regulator CFTR ATP-binding cassette sub-family C member 7 Channel conductance-controlling ATPase cAMP-dependent chloride channel
External Links
UniProt	P13569
EMBL	M28668 M55131 M55106 M55107 M55108 M55110 M55111 M55112 M55113 M55114 M55115 M55116 M55117 M55118 M55119 M55120 M55121 M55122 M55123 M55124 M55125 M55126 M55127 M55128 M55129 M55130 DQ354388 DQ354389 DQ354390 DQ354391 DQ356258 DQ356259 DQ356261 DQ356262 DQ356263 DQ356264 DQ388128 DQ388129 DQ388131 DQ388132 DQ388133 DQ388134 DQ388135 DQ388138 DQ388139 DQ388140 DQ388141 DQ388142 DQ388143 DQ388145 AC000061 AC000111 CH236947 M65196 M65197
CCDS	CCDS5773.1
PIR	A39069
RefSeq	NP_000483.3
UniGene	Hs.489786 Hs.621460 Hs.661104
PDB	1NBD 1XMI 1XMJ 2BBO 2BBS 2BBT 2LOB 2PZE 2PZF 2PZG 3GD7 3ISW
PDBsum	1NBD 1XMI 1XMJ 2BBO 2BBS 2BBT 2LOB 2PZE 2PZF 2PZG 3GD7 3ISW
DisProt	DP00012
ProteinModelPortal	P13569
SMR	P13569
BioGrid	107506
DIP	DIP-32788N
IntAct	P13569
MINT	MINT-148539
STRING	9606.ENSP00000003084
BindingDB	P13569
ChEMBL	CHEMBL4051
DrugBank	DB00887 DB04941 DB01016 DB01050 DB08820
GuidetoPHARMACOLOGY	707
MoonProt	P13569
TCDB	3.A.1.202.1
PhosphoSite	P13569
DMDM	147744553
PaxDb	P13569
PRIDE	P13569
DNASU	1080
Ensembl	ENST00000003084
GeneID	1080
KEGG	hsa:1080
UCSC	uc003vjd.3
CTD	1080
GeneCards	GC07P117119
GeneReviews	CFTR
HGNC	HGNC:1884
HPA	CAB001951 HPA021939
MIM	219700 277180 602421
neXtProt	NX_P13569
Orphanet	48 586 676 60033 399805
PharmGKB	PA109
eggNOG	COG1132
GeneTree	ENSGT00770000120479
HOVERGEN	HBG004169
InParanoid	P13569
KO	K05031
OMA	NALRRCF
OrthoDB	EOG7C2R0B
PhylomeDB	P13569
TreeFam	TF105200
BioCyc	MetaCyc:HS00075-MONOMER
BRENDA	3.6.3.49
Reactome	REACT_15480
EvolutionaryTrace	P13569
GenomeRNAi	1080
NextBio	4500
PRO	PR:P13569
Proteomes	UP000005640
Bgee	P13569
CleanEx	HS_CFTR
ExpressionAtlas	P13569
Genevestigator	P13569
GO	GO:0016324 GO:0016323 GO:0009986 GO:0034707 GO:0005737 GO:0030659 GO:0005769 GO:0031901 GO:0070062 GO:0005902 GO:0005886 GO:0043234 GO:0055037 GO:0005524 GO:0005224 GO:0015106 GO:0005260 GO:0005254 GO:0019869 GO:0015108 GO:0019899 GO:0030165 GO:0071320 GO:0032870 GO:1902476 GO:0006695 GO:0030301 GO:0051454 GO:0015705 GO:0030324 GO:0060081 GO:0045909 GO:1902943 GO:0007585 GO:0034097 GO:0042493 GO:0043627 GO:0043434 GO:0048240 GO:0030321 GO:0055085 GO:0006810 GO:0042311 GO:0006833
Gene3D	3.40.50.300
InterPro	IPR003593 IPR011527 IPR003439 IPR017871 IPR009147 IPR025837 IPR027417
PANTHER	PTHR24223:SF19
Pfam	PF00664 PF00005 PF14396
PRINTS	PR01851
SMART	SM00382
SUPFAM	SSF52540 SSF90123
TIGRFAMs	TIGR01271
PROSITE	PS50929 PS00211 PS50893

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005254	chloride channel activity	PMID:16193325^[1]	ECO:0000315			F		Table 3 shows a direct correlation between number of cftr mutations and sweat chloride concentration in test subjects.	complete CACAO 4060
	GO:0030324	lung development	PMID:23226399^[2]	ECO:0000314			P		Cigarette smoke can lead to the over regulation of MiR-101. MiR-101 is one of the proteins that is responsible for regulating the CFTR protein chloride channels in the lungs. The CFTR chloride channel is responsible for carrying chloride ions across the membrane. Mutations of the chloride channel can cause mucous to accumulate on the membrane which is a sign of cystic fibrosis. Figure 6 shows that MiR-101 is up regulated in is COPD patients with histories of smoking. The up regulation in COPD patients with a history of smoking showed great suppression in the CFTR protein.	complete CACAO 6422
	GO:0030324	lung development	PMID:23029546^[3]	ECO:0000269			P		Figure 2 shows that functional CFTR was grown on epithelial cells. CFTR if mutated in the genes can cause susceptibility to a large amount of lung diseases.	complete CACAO 6461
enables	GO:0106138	Sec61 translocon complex binding	PMID:9792704^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0051087	chaperone binding	PMID:16207813^[5]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O95816	F	part_of:(GO:0050821)	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21884936^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0034976	response to endoplasmic reticulum stress	PMID:21884936^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P34158	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:28067262^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0034976	response to endoplasmic reticulum stress	PMID:28067262^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:28130590^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:28130590^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0015106	bicarbonate transmembrane transporter activity	PMID:19019741^[9]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:19019741^[9]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:19019741^[9]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0015701	bicarbonate transport	PMID:19019741^[9]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	PMID:11707463^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:11707463^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:11707463^[10]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:11707463^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0045921	positive regulation of exocytosis	PMID:24885604^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000169) happens_during:(GO:0030073)	Seeded From UniProt	complete
involved_in	GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	PMID:24885604^[11]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q5XXA6	P	occurs_in:(CL:0000169)	Seeded From UniProt	complete
involved_in	GO:1902161	positive regulation of cyclic nucleotide-gated ion channel activity	PMID:24885604^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000169) causally_upstream_of:(GO:0030073) has_regulation_target:(UniProtKB:Q5XXA6)	Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:24885604^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000169)	Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:24885604^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	occurs_in:(CL:0000169)	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:24885604^[11]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000169)	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:24885604^[11]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000169)	Seeded From UniProt	complete
involved_in	GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	PMID:24885604^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000169)	Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:19621064^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:19621064^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0035377	transepithelial water transport	PMID:19621064^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050891	multicellular organismal water homeostasis	PMID:19621064^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1904322	cellular response to forskolin	PMID:19621064^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:19621064^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	PMID:11524016^[13]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:11524016^[13]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:11524016^[13]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:11524016^[13]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0055037	recycling endosome	PMID:18570918^[14]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:18570918^[14]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:18570918^[14]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:18570918^[14]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1902943	positive regulation of voltage-gated chloride channel activity	PMID:22006324^[15]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
	GO:0005254	chloride channel activity	PMID:25654755^[16]	ECO:0000315			F		Fig. lung cell cycle and differentiation	complete CACAO 10633
part_of	GO:0016324	apical plasma membrane	PMID:20658517^[17]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
	GO:0005254	chloride channel activity	PMID:25654755^[16]	ECO:0000315			F		Fig.1 lung cell cycle and differentiation	complete CACAO 10634
involved_in	GO:0071320	cellular response to cAMP	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P26361	P		Seeded From UniProt	complete
involved_in	GO:0060081	membrane hyperpolarization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P26361	P		Seeded From UniProt	complete
involved_in	GO:0051454	intracellular pH elevation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P26361	P		Seeded From UniProt	complete
involved_in	GO:0048240	sperm capacitation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P26361	P		Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	PMID:17462998^[18]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0030165	PDZ domain binding	PMID:11707463^[10]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0019899	enzyme binding	PMID:19398555^[19]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q14694	F		Seeded From UniProt	complete
enables	GO:0019869	chloride channel inhibitor activity	PMID:22178883^[20]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:12801959^[21]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:15247260^[22]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0015108	chloride transmembrane transporter activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P26361	F		Seeded From UniProt	complete
enables	GO:0015106	bicarbonate transmembrane transporter activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P26361	F		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:20658517^[17]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:22178883^[20]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005769	early endosome	PMID:19398555^[19]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005260	intracellularly ATP-gated chloride channel activity	PMID:11707463^[10]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:22178883^[20]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	PMID:8910473^[23]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:8910473^[23]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005260	intracellularly ATP-gated chloride channel activity	PMID:8910473^[23]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1904322	cellular response to forskolin	PMID:15010471^[24]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:15010471^[24]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0015701	bicarbonate transport	PMID:15010471^[24]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0015106	bicarbonate transmembrane transporter activity	PMID:15010471^[24]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:15010471^[24]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:88388 PANTHER:PTN000658665 UniProtKB:P13569	P		Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000657997 RGD:3112 SGD:S000002542 TAIR:locus:2061559 UniProtKB:A7KVC2 UniProtKB:Q10RX7	P		Seeded From UniProt	complete
enables	GO:0042626	ATPase activity, coupled to transmembrane movement of substances	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000657997 RGD:71101 TAIR:locus:2061559 UniProtKB:Q9LK64	F		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:88388 PANTHER:PTN000658665 RGD:2332 UniProtKB:P13569	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1352447 PANTHER:PTN000657997 RGD:2366 RGD:3112 RGD:620268 UniProtKB:O15439 UniProtKB:O15440	C		Seeded From UniProt	complete
involved_in	GO:0015701	bicarbonate transport	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000658665 RGD:2332 UniProtKB:P13569	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2443111 MGI:MGI:88388 PANTHER:PTN002384279 UniProtKB:O15439 UniProtKB:P13569	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:21873635^[25]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:88388 PANTHER:PTN000658665 UniProtKB:P13569	C		Seeded From UniProt	complete
involved_in	GO:1902476	chloride transmembrane transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:1902161	positive regulation of cyclic nucleotide-gated ion channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0071320	cellular response to cAMP	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0060081	membrane hyperpolarization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0051454	intracellular pH elevation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0048240	sperm capacitation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0045921	positive regulation of exocytosis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0030301	cholesterol transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	C		Seeded From UniProt	complete
enables	GO:0015108	chloride transmembrane transporter activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	F		Seeded From UniProt	complete
enables	GO:0015106	bicarbonate transmembrane transporter activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	F		Seeded From UniProt	complete
involved_in	GO:0006904	vesicle docking involved in exocytosis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0006821	chloride transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
involved_in	GO:0006695	cholesterol biosynthetic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	C		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26361 ensembl:ENSMUSP00000049228	F		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR009147	F		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003439 InterPro:IPR011527 InterPro:IPR017871 InterPro:IPR036640	F		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR009147	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR009147	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011527 InterPro:IPR036640	C		Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003439 InterPro:IPR017871	F		Seeded From UniProt	complete
enables	GO:0042626	ATPase activity, coupled to transmembrane movement of substances	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011527	F		Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011527	P		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	PMID:2475911^[26]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	PMID:9931011^[27]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005260	intracellularly ATP-gated chloride channel activity	PMID:10581360^[28]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0061024	membrane organization	Reactome:R-HSA-199991	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	Reactome:R-HSA-382556	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0030665	clathrin-coated vesicle membrane	Reactome:R-HSA-8871194 Reactome:R-HSA-8871193 Reactome:R-HSA-8869438 Reactome:R-HSA-8868661 Reactome:R-HSA-8868660 Reactome:R-HSA-8868659 Reactome:R-HSA-8868658	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030660	Golgi-associated vesicle membrane	Reactome:R-HSA-5627275 Reactome:R-HSA-5627072 Reactome:R-HSA-5627071	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0017081	chloride channel regulator activity	Reactome:R-HSA-383190	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0016579	protein deubiquitination	Reactome:R-HSA-5688426	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0015108	chloride transmembrane transporter activity	Reactome:R-HSA-5678863	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0010008	endosome membrane	Reactome:R-HSA-6782106	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-8868661 Reactome:R-HSA-8868651 Reactome:R-HSA-8868648 Reactome:R-HSA-8868236 Reactome:R-HSA-8868230 Reactome:R-HSA-8868072 Reactome:R-HSA-8868071 Reactome:R-HSA-8867756 Reactome:R-HSA-8867754 Reactome:R-HSA-8866851 Reactome:R-HSA-8866277 Reactome:R-HSA-5679000 Reactome:R-HSA-5678992 Reactome:R-HSA-5678863 Reactome:R-HSA-5627071 Reactome:R-HSA-383190 Reactome:R-HSA-1454916	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-8866858 Reactome:R-HSA-8866854	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	Reactome:R-HSA-8866857 Reactome:R-HSA-8866856 Reactome:R-HSA-8866854 Reactome:R-HSA-8866851 Reactome:R-HSA-8866553 Reactome:R-HSA-8866551 Reactome:R-HSA-8866546 Reactome:R-HSA-8866542	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	Reactome:R-HSA-5627275	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P		Seeded From UniProt	complete
part_of	GO:0005768	endosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0967	C		Seeded From UniProt	complete
part_of	GO:0034707	chloride channel complex	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0869	C		Seeded From UniProt	complete
enables	GO:0016853	isomerase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0413	F		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0256	C		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
involved_in	GO:0006821	chloride transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0869	P		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
enables	GO:0005254	chloride channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0869	F		Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0097	C		Seeded From UniProt	complete
part_of	GO:0031901	early endosome membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0093	C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0015	C		Seeded From UniProt	complete
part_of	GO:0055038	recycling endosome membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0231	C		Seeded From UniProt	complete
edit table

Notes

References

See Help:References for how to manage references in GONUTS.

↑ Bishop, MD et al. (2005) The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum. Genet. 118 372-81 PubMed GONUTS page
↑ Hassan, F et al. (2012) MiR-101 and miR-144 regulate the expression of the CFTR chloride channel in the lung. PLoS ONE 7 e50837 PubMed GONUTS page
↑ Murphy, SV et al. (2012) Human amnion epithelial cells induced to express functional cystic fibrosis transmembrane conductance regulator. PLoS ONE 7 e46533 PubMed GONUTS page
↑ Bebök, Z et al. (1998) The mechanism underlying cystic fibrosis transmembrane conductance regulator transport from the endoplasmic reticulum to the proteasome includes Sec61beta and a cytosolic, deglycosylated intermediary. J. Biol. Chem. 273 29873-8 PubMed GONUTS page
↑ Arndt, V et al. (2005) BAG-2 acts as an inhibitor of the chaperone-associated ubiquitin ligase CHIP. Mol. Biol. Cell 16 5891-900 PubMed GONUTS page
↑ ^6.0 ^6.1 Gee, HY et al. (2011) Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway. Cell 146 746-60 PubMed GONUTS page
↑ ^7.0 ^7.1 Piao, H et al. (2017) Sec16A is critical for both conventional and unconventional secretion of CFTR. Sci Rep 7 39887 PubMed GONUTS page
↑ ^8.0 ^8.1 Hanukoglu, I et al. (2017) Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages. Histochem. Cell Biol. 147 733-748 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 Tang, L et al. (2009) Mechanism of direct bicarbonate transport by the CFTR anion channel. J. Cyst. Fibros. 8 115-21 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 ^10.4 ^10.5 Cheng, J et al. (2002) A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J. Biol. Chem. 277 3520-9 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 ^11.6 ^11.7 Edlund, A et al. (2014) CFTR and Anoctamin 1 (ANO1) contribute to cAMP amplified exocytosis and insulin secretion in human and murine pancreatic beta-cells. BMC Med 12 87 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 ^12.3 ^12.4 ^12.5 Zhang, L et al. (2009) CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium. PLoS Biol. 7 e1000155 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 ^13.3 Ramjeesingh, M et al. (2001) A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator. Biochemistry 40 10700-6 PubMed GONUTS page
↑ ^14.0 ^14.1 ^14.2 ^14.3 Bilan, F et al. (2008) Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells. Exp. Cell Res. 314 2199-211 PubMed GONUTS page
↑ Martins, JR et al. (2011) Anoctamin 6 is an essential component of the outwardly rectifying chloride channel. Proc. Natl. Acad. Sci. U.S.A. 108 18168-72 PubMed GONUTS page
↑ ^16.0 ^16.1 Wong, AP et al. (2015) Efficient generation of functional CFTR-expressing airway epithelial cells from human pluripotent stem cells. Nat Protoc 10 363-81 PubMed GONUTS page
↑ ^17.0 ^17.1 Avella, M et al. (2011) SLC26A9 stimulates CFTR expression and function in human bronchial cell lines. J. Cell. Physiol. 226 212-23 PubMed GONUTS page
↑ Swiatecka-Urban, A et al. (2007) Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells. J. Biol. Chem. 282 23725-36 PubMed GONUTS page
↑ ^19.0 ^19.1 Bomberger, JM et al. (2009) The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells. J. Biol. Chem. 284 18778-89 PubMed GONUTS page
↑ ^20.0 ^20.1 ^20.2 Ousingsawat, J et al. (2011) CFTR and TMEM16A are separate but functionally related Cl- channels. Cell. Physiol. Biochem. 28 715-24 PubMed GONUTS page
↑ Burghardt, B et al. (2003) Distribution of aquaporin water channels AQP1 and AQP5 in the ductal system of the human pancreas. Gut 52 1008-16 PubMed GONUTS page
↑ Swiatecka-Urban, A et al. (2004) Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 279 38025-31 PubMed GONUTS page
↑ ^23.0 ^23.1 ^23.2 Li, C et al. (1996) ATPase activity of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 271 28463-8 PubMed GONUTS page
↑ ^24.0 ^24.1 ^24.2 ^24.3 ^24.4 Shcheynikov, N et al. (2004) Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-). J. Biol. Chem. 279 21857-65 PubMed GONUTS page
↑ ^25.0 ^25.1 ^25.2 ^25.3 ^25.4 ^25.5 ^25.6 ^25.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Riordan, JR et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 1066-73 PubMed GONUTS page
↑ Ramjeesingh, M et al. (1999) Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator). Biochemistry 38 1463-8 PubMed GONUTS page
↑ Nagel, G (1999) Differential function of the two nucleotide binding domains on cystic fibrosis transmembrane conductance regulator. Biochim. Biophys. Acta 1461 263-74 PubMed GONUTS page

[PMID:16193325-1] Bishop, MD et al. (2005) The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum. Genet. 118 372-81 PubMed GONUTS page

[PMID:23226399-2] Hassan, F et al. (2012) MiR-101 and miR-144 regulate the expression of the CFTR chloride channel in the lung. PLoS ONE 7 e50837 PubMed GONUTS page

[PMID:23029546-3] Murphy, SV et al. (2012) Human amnion epithelial cells induced to express functional cystic fibrosis transmembrane conductance regulator. PLoS ONE 7 e46533 PubMed GONUTS page

[PMID:9792704-4] Bebök, Z et al. (1998) The mechanism underlying cystic fibrosis transmembrane conductance regulator transport from the endoplasmic reticulum to the proteasome includes Sec61beta and a cytosolic, deglycosylated intermediary. J. Biol. Chem. 273 29873-8 PubMed GONUTS page

[PMID:16207813-5] Arndt, V et al. (2005) BAG-2 acts as an inhibitor of the chaperone-associated ubiquitin ligase CHIP. Mol. Biol. Cell 16 5891-900 PubMed GONUTS page

[PMID:21884936-6] 6.0 ^6.1 Gee, HY et al. (2011) Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway. Cell 146 746-60 PubMed GONUTS page

[PMID:28067262-7] 7.0 ^7.1 Piao, H et al. (2017) Sec16A is critical for both conventional and unconventional secretion of CFTR. Sci Rep 7 39887 PubMed GONUTS page

[PMID:28130590-8] 8.0 ^8.1 Hanukoglu, I et al. (2017) Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages. Histochem. Cell Biol. 147 733-748 PubMed GONUTS page

[PMID:19019741-9] 9.0 ^9.1 ^9.2 ^9.3 Tang, L et al. (2009) Mechanism of direct bicarbonate transport by the CFTR anion channel. J. Cyst. Fibros. 8 115-21 PubMed GONUTS page

[PMID:11707463-10] 10.0 ^10.1 ^10.2 ^10.3 ^10.4 ^10.5 Cheng, J et al. (2002) A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J. Biol. Chem. 277 3520-9 PubMed GONUTS page

[PMID:24885604-11] 11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 ^11.6 ^11.7 Edlund, A et al. (2014) CFTR and Anoctamin 1 (ANO1) contribute to cAMP amplified exocytosis and insulin secretion in human and murine pancreatic beta-cells. BMC Med 12 87 PubMed GONUTS page

[PMID:19621064-12] 12.0 ^12.1 ^12.2 ^12.3 ^12.4 ^12.5 Zhang, L et al. (2009) CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium. PLoS Biol. 7 e1000155 PubMed GONUTS page

[PMID:11524016-13] 13.0 ^13.1 ^13.2 ^13.3 Ramjeesingh, M et al. (2001) A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator. Biochemistry 40 10700-6 PubMed GONUTS page

[PMID:18570918-14] 14.0 ^14.1 ^14.2 ^14.3 Bilan, F et al. (2008) Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells. Exp. Cell Res. 314 2199-211 PubMed GONUTS page

[PMID:22006324-15] Martins, JR et al. (2011) Anoctamin 6 is an essential component of the outwardly rectifying chloride channel. Proc. Natl. Acad. Sci. U.S.A. 108 18168-72 PubMed GONUTS page

[PMID:25654755-16] 16.0 ^16.1 Wong, AP et al. (2015) Efficient generation of functional CFTR-expressing airway epithelial cells from human pluripotent stem cells. Nat Protoc 10 363-81 PubMed GONUTS page

[PMID:20658517-17] 17.0 ^17.1 Avella, M et al. (2011) SLC26A9 stimulates CFTR expression and function in human bronchial cell lines. J. Cell. Physiol. 226 212-23 PubMed GONUTS page

[PMID:17462998-18] Swiatecka-Urban, A et al. (2007) Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells. J. Biol. Chem. 282 23725-36 PubMed GONUTS page

[PMID:19398555-19] 19.0 ^19.1 Bomberger, JM et al. (2009) The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells. J. Biol. Chem. 284 18778-89 PubMed GONUTS page

[PMID:22178883-20] 20.0 ^20.1 ^20.2 Ousingsawat, J et al. (2011) CFTR and TMEM16A are separate but functionally related Cl- channels. Cell. Physiol. Biochem. 28 715-24 PubMed GONUTS page

[PMID:12801959-21] Burghardt, B et al. (2003) Distribution of aquaporin water channels AQP1 and AQP5 in the ductal system of the human pancreas. Gut 52 1008-16 PubMed GONUTS page

[PMID:15247260-22] Swiatecka-Urban, A et al. (2004) Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 279 38025-31 PubMed GONUTS page

[PMID:8910473-23] 23.0 ^23.1 ^23.2 Li, C et al. (1996) ATPase activity of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 271 28463-8 PubMed GONUTS page

[PMID:15010471-24] 24.0 ^24.1 ^24.2 ^24.3 ^24.4 Shcheynikov, N et al. (2004) Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-). J. Biol. Chem. 279 21857-65 PubMed GONUTS page

[PMID:21873635-25] 25.0 ^25.1 ^25.2 ^25.3 ^25.4 ^25.5 ^25.6 ^25.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:2475911-26] Riordan, JR et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 1066-73 PubMed GONUTS page

[PMID:9931011-27] Ramjeesingh, M et al. (1999) Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator). Biochemistry 38 1463-8 PubMed GONUTS page

[PMID:10581360-28] Nagel, G (1999) Differential function of the two nucleotide binding domains on cystic fibrosis transmembrane conductance regulator. Biochim. Biophys. Acta 1461 263-74 PubMed GONUTS page

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HUMAN:CFTR

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