CFTR G542* [plasma membrane]

Stable Identifier
R-HSA-5678986
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Cystic fibrosis transmembrane conductance regulator, CFTR_HUMAN
Icon
CFTR G542* [plasma membrane] icon
CFTR G542* [plasma membrane] 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:hsa:1080 CFTR
Monarch:1080 CFTR
NCBI Entrez Gene:1080 CFTR
OMIM:602421 CFTR
UCSC:P13569 CFTR
Reference Transcript
Other Identifiers
1080
11722757_at
17050694
17050697
17050733
205043_PM_at
205043_at
215702_PM_s_at
215702_s_at
215703_PM_at
215703_at
217026_PM_at
217026_at
234702_PM_x_at
234702_x_at
3020624
3020625
3020627
3020647
3020648
3020649
3020652
3020654
3020656
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
3020708
3020709
3020712
3020717
3020718
3020719
3020721
3020722
3020723
3020724
3020725
3020726
3020727
3020729
31578_at
36816_s_at
36817_at
3902164
3902300
77392_at
8135661
AC000061_cds2_at
AC000061_cds3_at
A_14_P104877
A_14_P114787
A_14_P115109
A_14_P129538
A_14_P132049
A_23_P215720
A_24_P931355
GE571878
GE62403
GO:0000166
GO:0005254
GO:0005260
GO:0005515
GO:0005524
GO:0005634
GO:0005737
GO:0005765
GO:0005768
GO:0005769
GO:0005783
GO:0005789
GO:0005829
GO:0005886
GO:0006629
GO:0006695
GO:0006811
GO:0006821
GO:0006833
GO:0009986
GO:0010008
GO:0015106
GO:0015108
GO:0015701
GO:0016020
GO:0016323
GO:0016324
GO:0016787
GO:0016853
GO:0016887
GO:0017081
GO:0019869
GO:0019899
GO:0022414
GO:0030165
GO:0030301
GO:0030660
GO:0030669
GO:0031901
GO:0032991
GO:0034220
GO:0034707
GO:0034976
GO:0035377
GO:0043225
GO:0048240
GO:0050891
GO:0051087
GO:0051454
GO:0051649
GO:0055037
GO:0055038
GO:0055085
GO:0060081
GO:0065008
GO:0070175
GO:0071320
GO:0071889
GO:0097186
GO:0098660
GO:0098772
GO:0106138
GO:0140359
GO:1902476
GO:1902943
GO:1904322
HMNXSV003020096
HMNXSV003030732
HMNXSV003037881
Hs.283899.0.S1_3p_at
Hs.326797.0.S1_3p_at
Hs.663.1.A1_3p_a_at
ILMN_1705813
M55131_at
PH_hs_0024884
PH_hs_0026496
TC07000725.hg
TC07000726.hg
TC07000727.hg
TC07002542.hg
g6995995_3p_at
p15442
Participates
as a member of
Other forms of this molecule
misfolded CFTR [endoplasmic reticulum membrane]
CFTR [endoplasmic reticulum membrane]
CFTR [plasma membrane]
CFTR N1303K [plasma membrane]
CFTR F508del [plasma membrane]
CFTR W1282* [plasma membrane]
CFTR G551D [plasma membrane]
ub-CFTR F508del [endoplasmic reticulum membrane]
ub-CFTR F508del [cytosol]
CFTR F508del [endoplasmic reticulum membrane]
PolyUb-CFTR [endosome membrane]
CFTR [endosome membrane]
CFTR [Golgi-associated vesicle membrane]
CFTR [lysosomal membrane]
PolyUb-CFTR [plasma membrane]
PolyUb-CFTR [clathrin-coated endocytic vesicle membrane]
Modified Residues
Name
Nonsense mutation at glycine 542
Coordinate
542
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
cystic fibrosis DOID:1485 mucoviscidosis, CF
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
707
OpenTargets
ENSEMBL
Mondo
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB