p-6Y-FGFR3 A391E [plasma membrane]

Stable Identifier
R-HSA-2065835
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
p-6Y-FGFR3 A391E [plasma membrane] icon
p-6Y-FGFR3 A391E [plasma membrane] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
7493034 Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

Jabs, EW, Munro, IR, Meyers, GA, Orlow, SJ, Przylepa, KA

Nat Genet 1995
16384584 FGFR3 dimer stabilization due to a single amino acid pathogenic mutation

You, M, Hristova, K, Li, E

J Mol Biol 2006
12461689 Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders

Bonaventure, J, van der Kwast, TH, van Tilborg, AA, van Rhijn, BW, Radvanyi, F, de Vries, A, Thiery, JP, Zwarthoff, EC, Lurkin, I

Eur J Hum Genet 2002
External Reference Information
External Reference
UniProt:P22607 FGFR3
Gene Names
FGFR3, JTK4
Chain
signal peptide:1-22, chain:23-806
Reference Genes
BioGPS Gene:2261 FGFR3
COSMIC (genes):FGFR3 FGFR3
CTD Gene:2261 FGFR3
dbSNP Gene:2261 FGFR3
ENSEMBL:ENSG00000068078 FGFR3
HGNC:3690 FGFR3
KEGG Gene (Homo sapiens):2261 FGFR3
Monarch:2261 FGFR3
NCBI Gene:2261 FGFR3
OMIM:134934 FGFR3
UCSC:P22607 FGFR3
Reference Transcript
Other Identifiers
0002940050
0003850722
11717969_a_at
11755786_a_at
16964027
204379_PM_s_at
204379_s_at
204380_PM_s_at
204380_s_at
2261
2715017
2715018
2715019
2715026
2715027
2715028
2715029
2715030
2715031
2715032
2715033
2715039
2715040
2715041
2715042
2715043
2715045
2715046
2715047
2715048
2715049
2715051
2715053
2715054
2715056
2715057
2715058
31805_at
8093518
A_14_P132738
A_23_P212830
A_23_P500501
GE577766
GE58034
GO:0000165
GO:0000166
GO:0001501
GO:0001958
GO:0002062
GO:0003416
GO:0003674
GO:0004672
GO:0004712
GO:0004713
GO:0004714
GO:0005007
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005622
GO:0005634
GO:0005737
GO:0005783
GO:0005794
GO:0005886
GO:0005887
GO:0005925
GO:0006464
GO:0006468
GO:0006629
GO:0006915
GO:0007165
GO:0007169
GO:0007267
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0008543
GO:0009986
GO:0010518
GO:0016020
GO:0016021
GO:0016301
GO:0016310
GO:0016740
GO:0017134
GO:0018108
GO:0021700
GO:0030133
GO:0030154
GO:0030282
GO:0031410
GO:0032991
GO:0033674
GO:0035988
GO:0040007
GO:0042531
GO:0042802
GO:0043167
GO:0043226
GO:0043235
GO:0043410
GO:0043552
GO:0046777
GO:0048640
GO:0048856
GO:0060349
GO:0070374
GO:0070977
GO:1902178
HMNXSV003038877
ILMN_1651966
ILMN_1723123
M64347_at
TC04000029.hg
TC04001856.hg
g13112046_3p_a_at
g182568_3p_a_at
Participates
as a component of
Other forms of this molecule
FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
FGFR3 K650T [plasma membrane]
FGFR3 K650N [plasma membrane]
FGFR3 K650M [plasma membrane]
FGFR3 K650Q [plasma membrane]
FGFR3 A391E [plasma membrane]
FGFR3 K650E [plasma membrane]
FGFR3 G380R [plasma membrane]
FGFR3 G382D [plasma membrane]
FGFR3 805fs*141 [plasma membrane]
FGFR3 [plasma membrane]
FGFR3 S371C [plasma membrane]
FGFR3 Y373C [plasma membrane]
FGFR3 G370C [plasma membrane]
FGFR3 R248C [plasma membrane]
p-6Y-FGFR3 S371C [plasma membrane]
p-6Y-FGFR3 G370C [plasma membrane]
p-4Y FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
p-4Y FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
p-4Y FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
p-4Y FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
p-6Y-FGFR3 Y373C [plasma membrane]
p-6Y-FGFR3 805fs*141 [plasma membrane]
p-6Y-FGFR3 R248C [plasma membrane]
pY-FGFR3 [plasma membrane]
p-6Y-FGFR3 K650Q [plasma membrane]
p-6Y-FGFR3 K650N [plasma membrane]
p-6Y-FGFR3 K650E [plasma membrane]
p-6Y-FGFR3 K650M [plasma membrane]
p-6Y-FGFR3 G380R [plasma membrane]
p-6Y-FGFR3 G382D [plasma membrane]
p-6Y-FGFR3 K650T [plasma membrane]
Modified Residues
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
L-alanine 391 replaced with L-glutamic acid
Coordinate
391
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-glutamic acid residue [MOD:00015]
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name Identifier Synonyms
Crouzon syndrome DOID:2339 Craniofacial Dysostosis
bladder carcinoma DOID:4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
bone development disease DOID:0080006
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
PDB
ZINC - Investigational
COSMIC
HPA
GeneCards
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
Interactors (46)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:A0AVK6 E2F8  1 0.556 3
 UniProt:Q9BXU0 TEX12  1 0.556 3
 UniProt:Q16621 NFE2  1 0.556 3
 UniProt:Q9NZH6 IL37  6 0.556 3
 UniProt:P19388 POLR2E  2 0.556 3
 UniProt:P55318 FOXA3  1 0.556 3
 UniProt:Q06547-3 GABPB1  1 0.556 3
 UniProt:Q04206 RELA  6 0.556 3
 UniProt:P22692 IGFBP4  5 0.556 3
 UniProt:Q6NXG1 ESRP1  3 0.556 3
 UniProt:Q13573 SNW1  1 0.556 3
 UniProt:Q9BVC3 DSCC1  1 0.556 3
 UniProt:P62244 RPS15A  2 0.556 3
 UniProt:Q9UJU6 DBNL  7 0.556 3
 UniProt:P22415 USF1  1 0.556 3
 UniProt:Q99075 HBEGF  8 0.556 3
 UniProt:Q96T60 PNKP  1 0.556 3
 UniProt:Q9GZQ8 MAP1LC3B  3 0.556 3
 UniProt:Q9UNP9 PPIE  4 0.556 3
 UniProt:Q15814 TBCC  1 0.556 3
 UniProt:O14641 DVL2  5 0.556 3
 UniProt:Q86WV5 TEN1  1 0.556 3
 UniProt:Q9Y2Y0 ARL2BP  2 0.556 3
 UniProt:Q99743 NPAS2  2 0.556 3
 UniProt:O14544 SOCS6  1 0.556 3
 UniProt:Q07869 PPARA  2 0.556 3
 UniProt:Q9UBX5 FBLN5  1 0.556 3
 UniProt:P23771 GATA3  2 0.556 3
 UniProt:Q8N5V2 NGEF  2 0.556 3
 UniProt:O15534 PER1  4 0.556 3
 UniProt:P01106 MYC  2 0.556 3
 UniProt:Q6IAA8 LAMTOR1  5 0.556 3
 UniProt:Q9H2A9 CHST8  1 0.556 3
 UniProt:Q8N3R9 PALS1  2 0.556 3
 UniProt:P24941 CDK2  5 0.556 3
 UniProt:P38936 CDKN1A  5 0.556 3
 UniProt:Q00994 BEX3  1 0.556 3
 UniProt:Q06547-2 GABPB1  1 0.556 3
 UniProt:P17275 JUNB  1 0.556 3
 UniProt:O95674 CDS2  1 0.556 3
 UniProt:P10809 HSPD1  6 0.556 3
 UniProt:Q13352 ITGB3BP  2 0.556 3
 UniProt:Q8WUX9 CHMP7  2 0.556 3
 UniProt:P05412 JUN  4 0.556 3
 UniProt:P41134 ID1  1 0.556 3
 UniProt:P08238 HSP90AB1  6 0.524 2
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