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

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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

1951

1NBD

1XMI

1XMJ

205043_at

215702_s_at

21939

2BBO

2BBS

2BBT

2LOB

2PZE

2PZF

2PZG

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

3GD7

3ISW

4WZ6

5D2D

5D3E

5D3F

5TF7

5TF8

5TFA

5TFB

5TFC

5TFD

5TFF

5TFG

5TFI

5TFJ

5TGK

5UAK

6HEP

6MSM

8135661

A0A024R730

A0A3B3IT97

A0A3B3ITW0

A0A3B3ITW5

A_14_P104877

A_14_P114787

A_14_P129538

A_14_P132049

A_23_P215720

AAA35680

AAA51979

AAA51980

AAC13657

ABC79050

ABC79052

ABC79054

ABC79056

ABC87055

ABC87057

ABC87061

ABC87063

ABC87065

ABC87067

ABD72183

ABD72185

ABD72189

ABD72191

ABD72193

ABD72195

ABD72197

ABD72203

ABD72205

ABD72207

ABD72209

ABD72211

ABD72213

ABD72217

AC000061

AC000111

C9J6L5

CAB001951

CCDS5773

CFTR

CFTR-201

CFTR-217

CH236947

CH471070

DQ354388

DQ354389

DQ354390

DQ354391

DQ356258

DQ356259

DQ356261

DQ356262

DQ356263

DQ356264

DQ388128

DQ388129

DQ388131

DQ388132

DQ388133

DQ388134

DQ388135

DQ388138

DQ388139

DQ388140

DQ388141

DQ388142

DQ388143

DQ388145

E7EPB6

EAL24353

EAW83530

EAW83531

ENSG00000001626

ENSP00000003084

ENSP00000497203

ENST00000003084

ENST00000003084.10

ENST00000649781

ENST00000649781.1

EntrezGene:1080

EntrezGene:CFTR

g6995995_3p_at

GE62403

GO:0000003

GO:0000166

GO:0003674

GO:0005254

GO:0005260

GO:0005515

GO:0005524

GO:0005575

GO:0005622

GO:0005623

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

HGNC:1884

HPA021939

Hs.663.1.A1_3p_a_at

ILMN_1705813

IPR003439

IPR003593

IPR009147

IPR011527

IPR017871

IPR025837

IPR027417

IPR036640

LRG_663

LRG_663t1

M28668

M55106

M55107

M55108

M55110

M55111

M55112

M55113

M55114

M55115

M55116

M55117

M55118

M55119

M55120

M55121

M55122

M55123

M55124

M55125

M55126

M55127

M55128

M55129

M55130

M55131

M55131_at

M65196

M65197

MIM:167800

MIM:211400

MIM:219700

MIM:277180

MIM:602421

NM_000492

NP_000483

PF00005

PF00664

PF14396

PH_hs_0024884

PR01851

SM00382

TC07000726.hg

UPI000013C4D4

UPI000150AECE

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 - Biogenic

CFTR_HUMAN

ZINC target

P13569

PRO

P13569

PDB

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

IntEnz

5.6.1.6

GeneCards

P13569

Orphanet

15441

ZINC - Predictions - Purchasable

CFTR_HUMAN

HMDB Protein

HMDBP02121

Interactors (20)

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)	0.691	6
UniProt:P27824 CANX	2	CANX [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-983091) CANX [endoplasmic reticulum lumen] (R-HSA-195906)	0.688	4
UniProt:Q5T2W1 NHRF3			0.636	5
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:P60709 ACTB	5	ACTB(1-375) [cytosol] (R-HSA-201861) ACTB(1-375) [plasma membrane] (R-HSA-196016) ACTB(1-375) [nucleoplasm] (R-HSA-3321990) Unfolded ACTB [cytosol] (R-HSA-390462) ACTB(1-375) [lysosomal membrane] (R-HSA-196160)	0.564	4
UniProt:Q9HBW0 LPAR2	1	LPAR2 [plasma membrane] (R-HSA-419393)	0.558	4
UniProt:Q9JIL4 NHRF3			0.544	7
UniProt:Q9H8Y8 GORASP2	2	GORASP2 [Golgi membrane] (R-HSA-2422385) p-T222,T225-GORASP2 [Golgi membrane] (R-HSA-2422965)	0.544	3
UniProt:Q9QX74	1	SHANK2 [cytosol] (R-RNO-6794265)	0.544	2
UniProt:Q99942 RNF5	1	RNF5 [endoplasmic reticulum membrane] (R-HSA-975990)	0.537	3
UniProt:P11021 HSPA5	6	HSPA5 [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-985498) HSPA5 [extracellular region] (R-HSA-351322) HSPA5 [endoplasmic reticulum membrane] (R-HSA-351315) HSPA5 [endoplasmic reticulum lumen] (R-HSA-387190) HSPA5 [nucleoplasm] (R-HSA-5252042) HSPA5 [cytosol] (R-HSA-5252115)	0.527	3
UniProt:P08107 HSP71			0.527	4
UniProt:P16615-1 ATP2A2			0.524	6
UniProt:Q9BUN8 DERL1	1	DERL1 [endoplasmic reticulum membrane] (R-HSA-6781898)	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(238-246) [cytosol] (R-HSA-351912) BCAP31 [integral component of lumenal side of endoplasmic reticulum membrane] (R-HSA-985503) BCAP31(2-164) [endoplasmic reticulum membrane] (R-HSA-351826) BCAP31(165-237) [endoplasmic reticulum membrane] (R-HSA-351909) BCAP31(2-245) [endoplasmic reticulum membrane] (R-HSA-201587)	0.463	3