CFTR G551D

Stable Identifier
R-HSA-5678977
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Cystic fibrosis transmembrane conductance regulator, CFTR_HUMAN
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
ENSEMBL:ENSG00000001626 CFTR
HGNC:1884 CFTR
KEGG Gene (Homo sapiens):hsa:1080 CFTR
Monarch:1080 CFTR
NCBI Gene:1080 CFTR
OMIM:602421 CFTR
UCSC:P13569 CFTR
Reference Transcript
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
36816_s_at
3902164
3902300
3GD7
3ISW
4WZ6
5D2D
5D3E
5D3F
5UAK
8065539
8135661
A0A024R730
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
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
ENST00000003084
EntrezGene:1080
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:0005794
GO:0005829
GO:0005886
GO:0005887
GO:0006464
GO:0006629
GO:0006695
GO:0006810
GO:0006811
GO:0006821
GO:0006904
GO:0007165
GO:0007267
GO:0008150
GO:0009058
GO:0009986
GO:0010008
GO:0015106
GO:0015108
GO:0015701
GO:0016020
GO:0016021
GO:0016192
GO:0016324
GO:0016579
GO:0016787
GO:0016887
GO:0017081
GO:0019869
GO:0019899
GO:0021700
GO:0022857
GO:0030154
GO:0030165
GO:0030301
GO:0030660
GO:0030665
GO:0031205
GO:0031410
GO:0031901
GO:0032991
GO:0034707
GO:0035377
GO:0035774
GO:0042592
GO:0042626
GO:0043167
GO:0043225
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:0099133
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
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
uc003vjd.4
UPI000013C4D4
XM_011515751
XM_011515753
XM_011515754
XM_017011699
XP_011514053
XP_011514055
XP_011514056
XP_016867188
Participant Of
hasMember
input
hasComponent
Other forms of this molecule
PolyUb-CFTR [clathrin-coated 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 [endoplasmic reticulum membrane]
CFTR [plasma membrane]
misfolded CFTR [endoplasmic reticulum membrane]
CFTR N1303K [plasma membrane]
Modified Residues
Name
glycine 551 replaced with L-aspartic acid
Coordinate
551
PsiMod HEY
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
ZINC - World Drugs
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
PDB
GeneCards
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (18)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O14745 NHRF1      0.811 5
 UniProt:Q15599 NHRF2      0.77 7
 UniProt:P30153 PPP2R1A  2 0.691 6
 UniProt:P27824 CANX  2 0.688 4
 UniProt:Q5T2W1 NHRF3      0.636 5
 UniProt:P05787 KRT8  1 0.61 7
 UniProt:O15554 KCNN4  1 0.602 5
 UniProt:Q9HBW0 LPAR2  1 0.558 4
 UniProt:Q9JIL4 NHRF3      0.544 7
 UniProt:Q9H8Y8 GORASP2  2 0.544 3
 UniProt:Q9QX74 SHAN2      0.544 2
 UniProt:Q99942 RNF5  1 0.537 3
 UniProt:P08107 HSP71      0.527 4
 UniProt:P11021 HSPA5  6 0.527 3
 UniProt:Q9BUN8 DERL1  1 0.499 2
 UniProt:P11274 BCR  4 0.491 2
 UniProt:Q5XXA6 ANO1  1 0.463 2
 UniProt:P51572 BCAP31  5 0.463 3