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CFTR (human)

Overview CFTR a member of the MRP subfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. Functions as a chloride channel and controls the regulation of other transport pathways. Mutations have been observed in patients with the autosomal recessive disorders cystic fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD). Alternative splice Note: This description may include information from UniProtKB. Protein type: Membrane protein, integral; Channel, chloride; Transporter; EC 3.6.3.49; Hydrolase Cellular Component: microvillus; cytoplasmic vesicle membrane; protein complex; basolateral plasma membrane; early endosome membrane; early endosome; apical plasma membrane; plasma membrane Molecular Function: identical protein binding; protein binding; chloride channel activity; enzyme binding; ATP-binding and phosphorylation-dependent chloride channel activity; channel-conductance-controlling ATPase activity; ATP binding; PDZ domain binding Biological Process: response to drug; response to peptide hormone stimulus; cholesterol transport; iodide transport; water transport; transepithelial chloride transport; respiratory gaseous exchange; positive regulation of vasodilation; cholesterol biosynthetic process; vasodilation; cellular response to hormone stimulus; transport; bicarbonate transport; response to estrogen stimulus; response to cytokine stimulus; transmembrane transport; lung development Reference #:  P13569 (UniProtKB) Alt. Names/Synonyms: ABC35; ABCC7; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; CF; CFTR; CFTR/MRP; Channel conductance-controlling ATPase; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); dJ760C5.1; MRP7; TNR-CFTR Gene Symbols: CFTR Molecular weight: 168,142 Da Basal Isoelectric point: 8.91  Predict pI for various phosphorylation states Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®

Select Structure to View Below CFTR 1NBD - A=425-638 (human) 1XMI - A/B/C/D/E=389-678 (human) 1XMJ - A=389-678 (human) 2BBO - A=389-678 (human) 2BBS - A/B=389-678 (human) 2BBT - A/B=389-678 (human) 2LOB - B=1473-1480 (human) 2PZE - A/B=437-646 (human) 2PZF - A/B=437-646 (human) 2PZG - A/B=437-646 (human) 3GD7 - A/D/C/B=1193-1427 (human) 3ISW - C=5-22 (human) 1Q3H - A/B/C/D=389-673 (mouse) 1R0W - A/B/C/D=389-673 (mouse) 1R0X - A/B/C/D=389-673 (mouse) 1R0Y - A/B/C/D=389-673 (mouse) 1R0Z - A/B/C/D=389-673 (mouse) 1R10 - A/B=389-673 (mouse) 1XF9 - A/B/C/D=389-670 (mouse) 1XFA - A/B=389-670 (mouse) 3SI7 - A/D/C/B=389-673 (mouse)

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB 1NBD 1XMI 1XMJ 2BBO 2BBS 2BBT 2LOB 2PZE 2PZF 2PZG 3GD7 3ISW  |  Phospho3D  |  DISEASE 219700 277180 602421  |  Source  |  UCSD-Nature  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Sites Implicated In
activation: S511‑p, T582‑p, T604‑p, S641‑p, S660‑p, T682‑p, S686‑p, S707‑p, S737‑p, S768‑p, S790‑p, S795‑p, S813‑p enzymatic activity, inhibited: S660‑p, S700‑p, S712‑p, S737‑p, S768‑p, S795‑p, S813‑p inhibition: S641‑p, T682‑p, S737‑p, S768‑p molecular association, regulation: S660‑p, S700‑p, S712‑p, S737‑p, S768‑p, S795‑p, S813‑p protein conformation: S660‑p, S737‑p, S795‑p, S813‑p

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		S256-p	DQRAGKIsERLVITS
0	1		T291-p	MIENLRQtELKLTRK
0	2		K420-u	KQNNNNRkTsNGDDS
3	0		S422-p	NNNNRkTsNGDDSLF
2	0		S511-p	ENIIFGVsyDEyRYR
2	0		Y512-p	NIIFGVsyDEyRYRS
0	1		Y515-p	FGVsyDEyRYRSVIK
0	1		Y517	VsyDEyRYRSVIKAC
0	1		S549-p	GEGGITLsGGQRARI
2	0		T582-p	FGYLDVLtEKEIFES
2	1		T604-p	NKTRILVtsKMEHLK
0	1		S605-p	KTRILVtsKMEHLKK
2	0		S641-p	QNLQPDFsSKLMGCD
1	0		N659	QFSAERRNsILTETL
6	1		S660-p	FSAERRNsILTETLH
2	0		S670	TETLHRFSLEGDAPV
2	0		T682-p	APVSWTEtKKQsFKQ
4	0		S686-p	WTEtKKQsFKQTGEF
5	1		S700-p	FGEKRKNsILNPINs
2	0		S707-p	sILNPINsIRKFsIV
3	0		S712-p	INsIRKFsIVQKTPL
10	1		S737-p	EPLERRLsLVPDSEQ
2	0		S753-p	EAILPRIsVISTGPT
9	1		S768-p	LQARRRQsVLNLMtH
0	2		T774-p	QsVLNLMtHsVNQGQ
0	2		S776-p	VLNLMtHsVNQGQNI
2	0		S790-p	IHRKTTAsTRKVsLA
4	1		S795-p	TAsTRKVsLAPQANL
1	0		S809-p	LTELDIYsRRLsQET
6	0		S813-p	DIYsRRLsQETGLEI
0	1		Y1014-p	VVAVLQPyIFVAtVP
0	1		T1019-p	QPyIFVAtVPVIVAF
0	1		S1362-p	CLARSVLsKAKILLL
0	1		Y1424-p	EENKVRQyDSIQKLL
1	0		T1471-p	IAALKEEtEEEVQDT

	mouse
N256	DQRAAKINERLVITS
V291	MIENLREVELKMTRK
K420	QQSNGDRKHsSDENN
S422-p	SNGDRKHsSDENNVS
S511	ENIIFGVSYDEYRYK
Y512	NIIFGVSYDEYRYKS
Y515	FGVSYDEYRYKSVVK
Y517	VSYDEYRYKSVVKAC
S549	GEGGVTLSGGQRARI
T582	FGYLDVFTEEQVFES
T604	NKTRILVTSKMEHLR
S605	KTRILVTSKMEHLRK
S641	QSLRPDFSSKLMGYD
S659-p	QFTEERRssILTETL
S660-p	FTEERRssILTETLR
S670-p	TETLRRFsVDDSSAP
P681	SSAPWSKPKQSFRQT
S684	PWSKPKQSFRQTGEV
S698-p	VGEKRKNsILNSFSS
S705	sILNSFSSVRKISIV
S710	FSSVRKISIVQKTPL
S732	DLQEKRLSLVPDSEQ
N748	EAALPRSNMIATGPT
S763-p	FPGRRRQsVLDLMTF
T769	QsVLDLMTFTPNSGS
T771	VLDLMTFTPNSGSSN
S785	NLQRTRTSIRKIsLV
S790-p	RTSIRKIsLVPQISL
S804	LNEVDVYSRRLSQDS
S808	DVYSRRLSQDSTLNI
Y1009	VVSALQPYIFLATVP
T1014	QPYIFLATVPGLVVF
S1358	CLARSVLSKAKIILL
Y1420	EESNVWQYDSLQALL
T1467	ITALKEETEEEVQET

	rat
N256	DKRAAKINERLVITS
E291	IIESLREEELKMTRR
K420	QLNNDDRKTSNGENH
S422	NNDDRKTSNGENHLS
S511	ENIIFGVSYDEYRyK
Y512	NIIFGVSYDEYRyKS
Y515	FGVSYDEYRyKSVVK
Y517-p	VSYDEYRyKSVVKAC
S549	GEGGVTLSGGQRARI
T582	FGYLDVLTEEQIFES
T604	SKTRILVTSKMEQLK
S605	KTRILVTSKMEQLKK
S641	QSLRPDFSSKLMGYD
S659	QFTEERRSSILTETL
S660	FTEERRSSILTETLR
S670	TETLRRFSVDDASTT
A681	ASTTWNKAKQSFRQT
S684	TWNKAKQSFRQTGEF
S698	FGEKRKNSILSSFSS
S705	SILSSFSSVKKISIV
S710	FSSVKKISIVQKTPL
S732	DLQERRLSLVPDSEH
N748	EAALPRSNMITAGPT
S763	FPGRRRQSVLDLMTF
T769	QSVLDLMTFTPSSVS
T771	VLDLMTFTPSSVSSS
S785	SLQRTRASIRKISLA
S790	RASIRKISLAPRISL
S804	LKEEDIYSRRLSQDS
S808	DIYSRRLSQDSTLNI
Y1009	VVSALQPYIFLATVP
T1014	QPYIFLATVPGLAVF
S1358	CLARSVLSKAKIILL
Y1420	EQGNVWQYESLQALL
T1467	ITAVKEETEEEVQET

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