Reactome | CFTR G551D [plasma membrane]

CFTR G551D [plasma membrane]

Stable Identifier

R-HSA-5678977

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Cystic fibrosis transmembrane conductance regulator, CFTR_HUMAN

Icon

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:P13569 CFTR

Gene Names

CFTR, ABCC7

Chain

chain:1-1480

Reference Genes

BioGPS Gene:1080 CFTR

COSMIC (genes):CFTR CFTR

CTD Gene:1080 CFTR

dbSNP Gene:1080 CFTR

ENSEMBL:ENSG00000001626 CFTR

HGNC:1884 CFTR

KEGG Gene (Homo sapiens):1080 CFTR

Monarch:1080 CFTR

NCBI Gene:1080 CFTR

OMIM:602421 CFTR

UCSC:P13569 CFTR

Reference Transcript

RefSeq:NM_000492.3 CFTR

Other Identifiers

1080

11722757_at

17050697

205043_at

215702_s_at

3020647

3020648

3020652

3020654

3020658

3020659

3020661

3020662

3020663

3020664

3020666

3020667

3020668

3020670

3020672

3020673

3020674

3020679

3020680

3020682

3020683

3020684

3020685

3020686

3020688

3020689

3020694

3020695

3020696

3020698

3020699

3020701

3020702

3020705

3020706

3020707

3020712

3020719

3020721

3020722

3020723

3020724

3020725

3020726

3020727

36816_s_at

36817_at

3902164

3902300

8135661

A_14_P104877

A_14_P114787

A_14_P129538

A_14_P132049

A_23_P215720

GE62403

GO:0000003

GO:0000166

GO:0003674

GO:0005254

GO:0005260

GO:0005515

GO:0005524

GO:0005575

GO:0005622

GO:0005634

GO:0005737

GO:0005764

GO:0005765

GO:0005768

GO:0005769

GO:0005773

GO:0005783

GO:0005789

GO:0005829

GO:0005886

GO:0005887

GO:0006464

GO:0006629

GO:0006695

GO:0006810

GO:0006811

GO:0006821

GO:0006904

GO:0006950

GO:0007267

GO:0008150

GO:0009058

GO:0009986

GO:0010008

GO:0015031

GO:0015106

GO:0015108

GO:0015701

GO:0016020

GO:0016021

GO:0016192

GO:0016324

GO:0016579

GO:0016853

GO:0016887

GO:0017081

GO:0019869

GO:0019899

GO:0021700

GO:0022857

GO:0030154

GO:0030165

GO:0030301

GO:0030660

GO:0030665

GO:0031410

GO:0031901

GO:0032991

GO:0034707

GO:0034976

GO:0035377

GO:0035774

GO:0042592

GO:0042626

GO:0043167

GO:0043226

GO:0044281

GO:0045921

GO:0048240

GO:0048856

GO:0050891

GO:0051087

GO:0051454

GO:0055037

GO:0055038

GO:0055085

GO:0060081

GO:0061024

GO:0071320

GO:0106138

GO:1902161

GO:1902476

GO:1902943

GO:1904322

Hs.663.1.A1_3p_a_at

ILMN_1705813

M55131_at

PH_hs_0024884

TC07000726.hg

g6995995_3p_at

Participant Of

input

Ivacaftor binds CFTR G551D

hasComponent

Ivacaftor:CFTR G551D [plasma membrane]

hasMember

CFTR mutants [plasma membrane]

Other forms of this molecule

PolyUb-CFTR [clathrin-coated endocytic vesicle membrane]

PolyUb-CFTR [plasma membrane]

CFTR [lysosomal membrane]

CFTR [Golgi-associated vesicle membrane]

CFTR [endosome membrane]

PolyUb-CFTR [endosome membrane]

CFTR F508del [endoplasmic reticulum membrane]

ub-CFTR F508del [cytosol]

ub-CFTR F508del [endoplasmic reticulum membrane]

CFTR G542* [plasma membrane]

CFTR W1282* [plasma membrane]

CFTR F508del [plasma membrane]

CFTR N1303K [plasma membrane]

CFTR [plasma membrane]

CFTR [endoplasmic reticulum membrane]

misfolded CFTR [endoplasmic reticulum membrane]

Modified Residues

Name

glycine 551 replaced with L-aspartic acid

Coordinate

551

PsiMod

L-aspartic acid residue [MOD:00013]

A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

Disease

Name	Identifier	Synonyms
cystic fibrosis	1485	mucoviscidosis, CF

Cross References

RefSeq

NP_000483.3

ZINC - World Drugs

CFTR_HUMAN

OpenTargets

ENSG00000001626

ZINC - FDA approved

CFTR_HUMAN

ZINC - Substances

CFTR_HUMAN

ZINC target

P13569

ZINC - Biogenic

CFTR_HUMAN

PRO

P13569

PDB

5TGK, 5D3F, 2PZG, 5TFG, 6HEP, 6GJS, 4WZ6, 6GJQ, 5TFF, 6MSM, 2LOB, 5TFC, 1NBD, 6O1V, 1XMJ, 6GKD, 5D3E, 2PZF, 2BBT, 5TFD, 2BBS, 2PZE, 5TFA, 3GD7, 2BBO, 1XMI, 5TFB, 5TFI, 6O2P, 6GK4, 5TF7, 5D2D, 5TFJ, 5TF8, 3ISW, 5UAK, 6GJU

IntEnz

5.6.1.6

GeneCards

P13569

HPA

ENSG00000001626-CFTR

Ensembl

ENSG00000001626, ENST00000003084, ENST00000649781, ENSP00000497203, ENSP00000003084

ZINC - Predictions - Purchasable

CFTR_HUMAN

Orphanet

15441

HMDB Protein

HMDBP02121

Interactors (63)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O14745 NHRF1			0.811	5
UniProt:Q15599 NHRF2			0.77	7
UniProt:P30153 PPP2R1A	2	PPP2R1A [nucleoplasm] (R-HSA-165968) PPP2R1A [cytosol] (R-HSA-165982)	0.76	9
UniProt:P27824 CANX	2	CANX [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-983091) CANX [endoplasmic reticulum lumen] (R-HSA-195906)	0.758	12
UniProt:Q5T2W1 NHRF3			0.702	6
UniProt:P60709 ACTB	5	Unfolded ACTB [cytosol] (R-HSA-390462) ACTB(1-375) [lysosomal membrane] (R-HSA-196160) ACTB(1-375) [cytosol] (R-HSA-201861) ACTB(1-375) [nucleoplasm] (R-HSA-3321990) ACTB(1-375) [plasma membrane] (R-HSA-196016)	0.669	5
UniProt:P11021 HSPA5	6	HSPA5 [cytosol] (R-HSA-5252115) HSPA5 [extracellular region] (R-HSA-351322) HSPA5 [nucleoplasm] (R-HSA-5252042) HSPA5 [endoplasmic reticulum lumen] (R-HSA-387190) HSPA5 [endoplasmic reticulum membrane] (R-HSA-351315) HSPA5 [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-985498)	0.643	11
UniProt:P05787 KRT8	1	KRT8 [cytosol] (R-HSA-446043)	0.61	7
UniProt:O15554 KCNN4	1	KCNN4 [plasma membrane] (R-HSA-977543)	0.602	5
UniProt:P13569 CFTR	17	PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) CFTR [lysosomal membrane] (R-HSA-5627279) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [endosome membrane] (R-HSA-6782965) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) ub-CFTR F508del [cytosol] (R-HSA-8866838) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) CFTR G542* [plasma membrane] (R-HSA-5678986) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR [plasma membrane] (R-HSA-383188) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730)	0.564	8
UniProt:Q9HBW0 LPAR2	1	LPAR2 [plasma membrane] (R-HSA-419393)	0.558	4
UniProt:Q9QX74	1	Shank2 [cytosol] (R-RNO-6794265)	0.544	2
UniProt:Q9JIL4 NHRF3			0.544	7
UniProt:Q9H8Y8 GORASP2	2	p-T222,T225-GORASP2 [Golgi membrane] (R-HSA-2422965) GORASP2 [Golgi membrane] (R-HSA-2422385)	0.544	3
UniProt:Q99942 RNF5	1	RNF5 [endoplasmic reticulum membrane] (R-HSA-975990)	0.537	3
UniProt:Q9Y608 LRRF2			0.527	7
UniProt:P31689 DNAJA1	1	DNAJA1 [cytosol] (R-HSA-3371544)	0.527	10
UniProt:O95425 SVIL			0.527	9
UniProt:P05783 KRT18	1	KRT18 [cytosol] (R-HSA-201582)	0.527	9
UniProt:P06753 TPM3	1	TPM3 [cytosol] (R-HSA-390543)	0.527	11
UniProt:P61619 SEC61A1	2	SEC61A1 [phagocytic vesicle membrane] (R-HSA-1236813) SEC61A1 [endoplasmic reticulum membrane] (R-HSA-444591)	0.527	5
UniProt:P04899 GNAI2	1	GNAI2 [plasma membrane] (R-HSA-55435)	0.527	8
UniProt:Q15370 ELOB	2	TCEB2 [nucleoplasm] (R-HSA-112423) ELOB [cytosol] (R-HSA-180551)	0.527	10
UniProt:P55060 XPO2			0.527	11
UniProt:P38646 HSPA9	6	HSPA9 [cytosol] (R-HSA-5251993) HSPA9 [nucleoplasm] (R-HSA-5252128) HSPA9 [mitochondrial matrix] (R-HSA-8878802) HSPA9(1-679) [mitochondrial intermembrane space] (R-HSA-1267968) HSPA9 [mitochondrial inner membrane] (R-HSA-1252206) HSPA9(1-679) [cytosol] (R-HSA-1267964)	0.527	11
UniProt:Q9NQH7 XPP3			0.527	6
UniProt:P12956 XRCC6	5	XRCC6 [cytosol] (R-HSA-3134813) XRCC6 [nucleoplasm] (R-HSA-58272) XRCC6 [secretory granule lumen] (R-HSA-6801312) XRCC6 [extracellular region] (R-HSA-6806444) XRCC6 [ficolin-1-rich granule lumen] (R-HSA-6801300)	0.527	9
UniProt:P35579 MYH9	1	MYH9 [cytosol] (R-HSA-419173)	0.527	9
UniProt:P08107 HSP71			0.527	4
UniProt:Q8WWI1 LMO7	1	LMO7 [cytosol] (R-HSA-8862589)	0.527	9
UniProt:P55072 VCP	8	VCP [endoplasmic reticulum membrane] (R-HSA-8943105) Me3K315-VCP [cytosol] (R-HSA-8932209) VCP [nucleoplasm] (R-HSA-5643745) VCP [azurophil granule lumen] (R-HSA-6800438) VCP [ficolin-1-rich granule lumen] (R-HSA-6800425) VCP [extracellular region] (R-HSA-6806191) VCP [secretory granule lumen] (R-HSA-6801039) VCP [cytosol] (R-HSA-1181251)	0.527	7
UniProt:Q9UHB6 LIMA1			0.527	9
UniProt:P04080 CSTB	4	CSTB [secretory granule lumen] (R-HSA-6801394) CSTB [ficolin-1-rich granule lumen] (R-HSA-6801376) CSTB [extracellular region] (R-HSA-6801567) CSTB [tertiary granule lumen] (R-HSA-6801398)	0.527	9
UniProt:P31944 CASP14	2	CASP14(153-242) [cytosol] (R-HSA-8847687) CASP14(6-146) [cytosol] (R-HSA-8847667)	0.527	6
UniProt:P10809 HSPD1	6	HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1 [mitochondrial matrix] (R-HSA-1299448) HSPD1(1-573) [cytosol] (R-HSA-1267989) HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1(1-26) [mitochondrial matrix] (R-HSA-8986171) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963)	0.527	10
UniProt:Q9NYL9 TMOD3	1	TMOD3 [cytosol] (R-HSA-217354)	0.527	10
UniProt:P31151 S100A7	2	S100A7 [extracellular region] (R-HSA-5432925) S100A7 [azurophil granule lumen] (R-HSA-6799207)	0.527	9
UniProt:P63244 RACK1	1	GNB2L1 [cytosol] (R-HSA-5626956)	0.527	9
UniProt:P13987 CD59	8	CD59 [plasma membrane] (R-HSA-2530458) CD59 [specific granule membrane] (R-HSA-6799513) CD59 [tertiary granule membrane] (R-HSA-6800885) GPI-CD59 [ER to Golgi transport vesicle membrane] (R-HSA-5689801) GPI-CD59 [endoplasmic reticulum membrane] (R-HSA-5689453) GPI-CD59 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-5689804) GPI-CD59 [transport vesicle] (R-HSA-6808775) GPI-CD59 [Golgi membrane] (R-HSA-6808772)	0.527	7
UniProt:P22061 PCMT1	1	PCMT1 [cytosol] (R-HSA-5676580)	0.527	11
UniProt:O95433 AHSA1			0.527	4
UniProt:P02545 LMNA	3	LMNA-RAF1 fusion [cytosol] (R-HSA-6802399) LMNA(1-664) [nucleoplasm] (R-HSA-535479) p-LMNA-RAF1 fusion [cytosol] (R-HSA-6802537)	0.527	11
UniProt:P28799 GRN	2	GRN [extracellular region] (R-HSA-6806217) GRN [azurophil granule lumen] (R-HSA-6799168)	0.527	9
UniProt:Q14257 RCN2			0.527	10
UniProt:Q13200 PSMD2	5	PSMD2 [extracellular region] (R-HSA-6806479) PSMD2 [ficolin-1-rich granule lumen] (R-HSA-6800435) PSMD2 [secretory granule lumen] (R-HSA-6800919) PSMD2 [nucleoplasm] (R-HSA-174311) PSMD2 [cytosol] (R-HSA-68796)	0.527	9
UniProt:Q14254 FLOT2	1	FLOT2 [plasma membrane] (R-HSA-8849895)	0.527	9
UniProt:Q14974 KPNB1	5	KPNB1 [nucleoplasm] (R-HSA-180714) KPNB1 [cytosol] (R-HSA-180733) KPNB1 [specific granule lumen] (R-HSA-6799646) KPNB1 [extracellular region] (R-HSA-6806306) KPNB1 [ficolin-1-rich granule lumen] (R-HSA-6800978)	0.527	10
UniProt:P06702 S100A9	3	S100A9 [cytosol] (R-HSA-9626869) S100A9 [secretory granule lumen] (R-HSA-6804774) S100A9 [extracellular region] (R-HSA-5432857)	0.527	9
UniProt:Q15369 ELOC	2	TCEB1 [nucleoplasm] (R-HSA-112422) ELOC [cytosol] (R-HSA-180535)	0.527	5
UniProt:P04792 HSPB1	3	p-S15,S78,S82-HSP27 [cytosol] (R-HSA-5218697) HSPB1 [cytosol] (R-HSA-450563) p-S78,S82 HSPB1 [cytosol] (R-HSA-5687009)	0.527	9
UniProt:O43852 CALU	3	p-CALU [endoplasmic reticulum lumen] (R-HSA-8956931) CALU [endoplasmic reticulum lumen] (R-HSA-350695) CALU [extracellular region] (R-HSA-350739)	0.527	2
UniProt:P78527 PRKDC	4	PRKDC [nucleoplasm] (R-HSA-62161) p-T2609,S2612,T2638,T2647-PRKDC [nucleoplasm] (R-HSA-76302) PRKDC [cytosol] (R-HSA-3134816) K48polyUb-PRKDC [cytosol] (R-HSA-8938766)	0.527	10
UniProt:O14980 XPO1	2	XPO1 [nucleoplasm] (R-HSA-165529) XPO1 [cytosol] (R-HSA-165539)	0.527	12
UniProt:Q9UL46 PSME2	2	PSME2 [cytosol] (R-HSA-68814) PSME2 [nucleoplasm] (R-HSA-174350)	0.527	9
UniProt:P17987 TCP1	1	TCP1 [cytosol] (R-HSA-390448)	0.527	9
UniProt:P08238 HSP90AB1	6	HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491) HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [lysosomal lumen] (R-HSA-9622846)	0.527	11
UniProt:O43852-1 CALU			0.524	2
UniProt:P16615-1 ATP2A2			0.524	6
UniProt:Q9BUN8 DERL1	1	DERL1 [endoplasmic reticulum membrane] (R-HSA-6781898)	0.499	2
UniProt:P51790-2 CLCN3			0.499	2
UniProt:P11274 BCR	4	BCR-FGFR1 fusion [cytosol] (R-HSA-1604524) BCR [cytosol] (R-HSA-195200) pY177-BCR-p-FGFR1 fusion [cytosol] (R-HSA-1839041) BCR-p-FGFR1 fusion [cytosol] (R-HSA-1838979)	0.491	2
UniProt:Q5XXA6 ANO1	1	ANO1 [plasma membrane] (R-HSA-2684927)	0.463	2
UniProt:P51572 BCAP31	5	BCAP31(165-237) [endoplasmic reticulum membrane] (R-HSA-351909) BCAP31(2-245) [endoplasmic reticulum membrane] (R-HSA-201587) BCAP31(2-164) [endoplasmic reticulum membrane] (R-HSA-351826) BCAP31(238-246) [cytosol] (R-HSA-351912) BCAP31 [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-985503)	0.463	3

Cite Us!