HUMAN:CFTR

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Species (Taxon ID)	Homo sapiens (Human). (taxon: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 Identifier	CFTR_HUMAN
UniProt Accessions	P13569, Q20BG8, Q20BH2, Q2I0A1, Q2I102,
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,
PIR	A39069,
RefSeq	NP_000483.3,
PDB	1NBD, 1XMI, 1XMJ, 2BBO, 2BBS, 2BBT, 2PZE, 2PZF, 2PZG, 3GD7, 3ISW,
IntAct	P13569,
Ensembl	ENST00000003084,
Pfam	PF00664, PF00005,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes	Status
	GO:0016324	apical plasma membrane		IDA: Inferred from Direct Assay		C	Source: UniProtKB
	GO:0016323	basolateral plasma membrane		NAS: Non-traceable Author Statement		C	Source: UniProtKB
	GO:0034707	chloride channel complex		IEA: Inferred from Electronic Annotation		C	Source: UniProtKB-KW
	GO:0031901	early endosome membrane		IEA: Inferred from Electronic Annotation		C	Source: UniProtKB-SubCell
	GO:0005524	ATP binding		TAS: Traceable Author Statement		F	Source: ProtInc
	GO:0005224	ATP-binding and phosphorylation-dependent c...		TAS: Traceable Author Statement		F	Source: ProtInc
	GO:0005260	channel-conductance-controlling ATPase activity		NAS: Non-traceable Author Statement		F	Source: UniProtKB
	GO:0019899	enzyme binding		IPI: Inferred from Physical Interaction		F	Source: UniProtKB
	GO:0030165	PDZ domain binding		IDA: Inferred from Direct Assay		F	Source: UniProtKB
	GO:0007585	respiratory gaseous exchange		TAS: Traceable Author Statement		P	Source: ProtInc
	GO:0000166	nucleotide binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR003593	F
	GO:0000166	nucleotide binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0547	F
	GO:0005216	ion channel activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0407	F
	GO:0005224	ATP-binding and phosphorylation-dependent chloride channel activity	PMID:10581360^[1]	TAS: Traceable Author Statement		F
	GO:0005254	chloride channel activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR005291	F
	GO:0005254	chloride channel activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR009147	F
	GO:0005254	chloride channel activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0869	F
	GO:0005254	chloride channel activity	PMID:9931011^[2]	TAS: Traceable Author Statement		F
	GO:0005260	channel-conductance-controlling ATPase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:3.6.3.49	F
	GO:0005260	channel-conductance-controlling ATPase activity	PMID:11707463^[3]	NAS: Non-traceable Author Statement		F
	GO:0005515	protein binding	PMID:11707463^[3]	IPI: Inferred from Physical Interaction	UniProtKB:Q9HD26	F
	GO:0005515	protein binding	PMID:12471024^[4]	IPI: Inferred from Physical Interaction	UniProtKB:O14745	F
	GO:0005515	protein binding	PMID:12471024^[4]	IPI: Inferred from Physical Interaction	UniProtKB:Q5T2W1	F
	GO:0005515	protein binding	PMID:12471024^[4]	IPI: Inferred from Physical Interaction	UniProtKB:Q9HD26	F
	GO:0005515	protein binding	PMID:15247260^[5]	IPI: Inferred from Physical Interaction	UniProtKB:P98082	F
	GO:0005515	protein binding	PMID:15247260^[5]	IPI: Inferred from Physical Interaction	UniProtKB:Q9UM54-1	F
	GO:0005515	protein binding	PMID:16203867^[6]	IPI: Inferred from Physical Interaction	UniProtKB:Q15599	F
	GO:0005515	protein binding	PMID:16203867^[6]	IPI: Inferred from Physical Interaction	UniProtKB:Q9HBW0	F
	GO:0005515	protein binding	PMID:16901789^[7]	IPI: Inferred from Physical Interaction	UniProtKB:Q99942	F
	GO:0005515	protein binding	PMID:16901789^[7]	IPI: Inferred from Physical Interaction	UniProtKB:Q9BUN8	F
	GO:0005515	protein binding	PMID:18555783^[8]	IPI: Inferred from Physical Interaction	UniProtKB:P51572	F
	GO:0005515	protein binding	PMID:9792704^[9]	IPI: Inferred from Physical Interaction	UniProtKB:P60468	F
	GO:0005524	ATP binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001140	F
	GO:0005524	ATP binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR003439	F
	GO:0005524	ATP binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011527	F
	GO:0005524	ATP binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR017871	F
	GO:0005524	ATP binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0067	F
	GO:0005524	ATP binding	PMID:2475911^[10]	TAS: Traceable Author Statement		F
	GO:0005737	cytoplasm	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	C
	GO:0005768	endosome	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0967	C
	GO:0005769	early endosome	PMID:19398555^[11]	IDA: Inferred from Direct Assay		C
	GO:0005902	microvillus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	C
	GO:0006200	ATP catabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR003439	P
	GO:0006200	ATP catabolic process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR017871	P
	GO:0006695	cholesterol biosynthetic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000049228	P
	GO:0006810	transport	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001140	P
	GO:0006810	transport	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011527	P
	GO:0006810	transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0813	P
	GO:0006810	transport	PMID:10581360^[1]	TAS: Traceable Author Statement		P
	GO:0006810	transport	PMID:7541313^[12]	TAS: Traceable Author Statement		P
	GO:0006811	ion transport	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR005291	P
	GO:0006811	ion transport	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR009147	P
	GO:0006811	ion transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0406	P
	GO:0006821	chloride transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0869	P
	GO:0006821	chloride transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000049228	P
	GO:0006821	chloride transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0006821	chloride transport	PMID:9931011^[2]	TAS: Traceable Author Statement		P
	GO:0006833	water transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0007585	respiratory gaseous exchange	PMID:9875854^[13]	TAS: Traceable Author Statement		P
	GO:0015701	bicarbonate transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0015705	iodide transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR005291	C
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR009147	C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0016020	membrane	Reactome:REACT_15300	TAS: Traceable Author Statement		C
	GO:0016021	integral to membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001140	C
	GO:0016021	integral to membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011527	C
	GO:0016021	integral to membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0812	C
	GO:0016323	basolateral plasma membrane	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	C
	GO:0016323	basolateral plasma membrane	PMID:11707463^[3]	NAS: Non-traceable Author Statement		C
	GO:0016324	apical plasma membrane	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	C
	GO:0016324	apical plasma membrane	PMID:12801959^[14]	IDA: Inferred from Direct Assay		C
	GO:0016324	apical plasma membrane	PMID:15247260^[5]	IDA: Inferred from Direct Assay		C
	GO:0016787	hydrolase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0378	F
	GO:0016887	ATPase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR003439	F
	GO:0016887	ATPase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR017871	F
	GO:0017111	nucleoside-triphosphatase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR003593	F
	GO:0019899	enzyme binding	PMID:19398555^[11]	IPI: Inferred from Physical Interaction	UniProtKB:Q14694	F
	GO:0030165	PDZ domain binding	PMID:11707463^[3]	IDA: Inferred from Direct Assay		F
	GO:0030301	cholesterol transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000049228	P
	GO:0030321	transepithelial chloride transport	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0030324	lung development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0030659	cytoplasmic vesicle membrane	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	C
	GO:0031901	early endosome membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0093	C
	GO:0032870	cellular response to hormone stimulus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0034097	response to cytokine stimulus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0034707	chloride channel complex	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0869	C
	GO:0042311	vasodilation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0042493	response to drug	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0042626	ATPase activity, coupled to transmembrane movement of substances	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001140	F
	GO:0042626	ATPase activity, coupled to transmembrane movement of substances	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011527	F
	GO:0043434	response to peptide hormone stimulus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0043627	response to estrogen stimulus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0045909	positive regulation of vasodilation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000010981	P
	GO:0055085	transmembrane transport	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001140	P
	GO:0055085	transmembrane transport	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011527	P
	GO:0055085	transmembrane transport	Reactome:REACT_15480	TAS: Traceable Author Statement		P
	GO:0055085	transmembrane transport	Reactome:REACT_15518	TAS: Traceable Author Statement		P
colocalizes_with	GO:0031205	endoplasmic reticulum Sec complex	PMID:9792704^[9]	IDA: Inferred from Direct Assay		C
	GO:0005254	chloride channel activity	PMID:16193325^[15]	IMP: Inferred from Mutant Phenotype		F	Table 3 shows a direct correlation between number of cftr mutations and sweat chloride concentration in test subjects.	complete
edit table

Notes

References

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

↑ ^1.0 ^1.1 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
↑ ^2.0 ^2.1 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
↑ ^3.0 ^3.1 ^3.2 ^3.3 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
↑ ^4.0 ^4.1 ^4.2 Gentzsch M et al. (2003) The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins. J Biol Chem 278: 6440-9 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 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
↑ ^6.0 ^6.1 Li C et al. (2005) Lysophosphatidic acid inhibits cholera toxin-induced secretory diarrhea through CFTR-dependent protein interactions. J Exp Med 202: 975-86 PubMed GONUTS page
↑ ^7.0 ^7.1 Younger JM et al. (2006) Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator. Cell 126: 571-82 PubMed GONUTS page
↑ Wang B et al. (2008) BAP31 interacts with Sec61 translocons and promotes retrotranslocation of CFTRDeltaF508 via the derlin-1 complex. Cell 133: 1080-92 PubMed GONUTS page
↑ ^9.0 ^9.1 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
↑ Riordan JR et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066-73 PubMed GONUTS page
↑ ^11.0 ^11.1 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
↑ Schwiebert EM et al. (1995) CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 81: 1063-73 PubMed GONUTS page
↑ Matsui H et al. (1998) Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell 95: 1005-15 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
↑ 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:10581360-0] 1.0 ^1.1 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:9931011-1] 2.0 ^2.1 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:11707463-2] 3.0 ^3.1 ^3.2 ^3.3 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:12471024-3] 4.0 ^4.1 ^4.2 Gentzsch M et al. (2003) The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins. J Biol Chem 278: 6440-9 PubMed GONUTS page

[PMID:15247260-4] 5.0 ^5.1 ^5.2 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:16203867-5] 6.0 ^6.1 Li C et al. (2005) Lysophosphatidic acid inhibits cholera toxin-induced secretory diarrhea through CFTR-dependent protein interactions. J Exp Med 202: 975-86 PubMed GONUTS page

[PMID:16901789-6] 7.0 ^7.1 Younger JM et al. (2006) Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator. Cell 126: 571-82 PubMed GONUTS page

[PMID:18555783-7] Wang B et al. (2008) BAP31 interacts with Sec61 translocons and promotes retrotranslocation of CFTRDeltaF508 via the derlin-1 complex. Cell 133: 1080-92 PubMed GONUTS page

[PMID:9792704-8] 9.0 ^9.1 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:2475911-9] 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:19398555-10] 11.0 ^11.1 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:7541313-11] Schwiebert EM et al. (1995) CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 81: 1063-73 PubMed GONUTS page

[PMID:9875854-12] Matsui H et al. (1998) Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell 95: 1005-15 PubMed GONUTS page

[PMID:12801959-13] 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:16193325-14] 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

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HUMAN:CFTR

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