FGFR1 N546K [plasma membrane]

Stable Identifier
R-HSA-1614377
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
FGFR1 N546K [plasma membrane] icon
Locations in the PathwayBrowser
General
weak constitutive activation of ligand independent binding based on analogy of FGFR3 N540 mutation in hypochondroplasia (Rand 2005)
Literature References
PubMed ID Title Journal Year
19224897 The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations

Schlessinger, J, Furdui, CM, Anderson, KS, Lew, ED

Sci Signal 2009
16186508 Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas

Li, K, Levy, S, Riggins, GJ, Stockwell, T, Tsiamouri, A, Ferriera, S, Edwards, JB, Beeson, K, Rand, V, Eberhart, C, Busam, D, Strausberg, RL, Venter, JC, Murphy, KM, Simpson, AJ, Huang, J, Buzko, O

Proc Natl Acad Sci U S A 2005
External Reference Information
External Reference
Gene Names
FGFR1, BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR
Chain
signal peptide:1-21, chain:22-822
Other Identifiers
11716548_x_at
11727300_a_at
11727301_a_at
11734765_a_at
11747416_a_at
11747417_x_at
2056_at
2057_g_at
207937_PM_x_at
207937_x_at
211535_PM_s_at
211535_s_at
2260
226705_PM_at
226705_at
3132013
3132015
3132017
3132018
3132019
3132020
3132021
3132022
3132023
3132025
3132026
3132027
3132028
3132029
3132031
3132033
3132036
3132039
3132041
3132044
3132046
3132055
3132056
3132070
3132072
3132076
3132078
3132080
3132081
3132083
3132095
3132108
3132109
3132111
3132112
3132113
3132114
3132115
3132116
3493097
36168_at
424_s_at
53212_at
8150318
91005_at
A_23_P301304
A_23_P372923
A_24_P4171
GE59934
GO:0000165
GO:0000166
GO:0001501
GO:0001764
GO:0001837
GO:0003824
GO:0004672
GO:0004713
GO:0004714
GO:0005007
GO:0005515
GO:0005524
GO:0005576
GO:0005634
GO:0005737
GO:0005829
GO:0005886
GO:0006468
GO:0007165
GO:0007169
GO:0008201
GO:0008284
GO:0008543
GO:0010518
GO:0010863
GO:0012501
GO:0014068
GO:0016020
GO:0016301
GO:0016310
GO:0016477
GO:0016740
GO:0017134
GO:0018108
GO:0023052
GO:0030154
GO:0031410
GO:0033674
GO:0036211
GO:0042802
GO:0042803
GO:0043009
GO:0043226
GO:0043235
GO:0043406
GO:0043410
GO:0043536
GO:0045595
GO:0045597
GO:0045666
GO:0046777
GO:0048015
GO:0048513
GO:0048705
GO:0048856
GO:0048870
GO:0051897
GO:0060089
GO:0071363
GO:0090722
GO:0140096
GO:1905564
GO:2000546
GO:2001239
HMNXSV003006005
HMNXSV003036243
Hs.748.8.A1_3p_at
ILMN_1729369
ILMN_1796229
ILMN_2398261
PH_hs_0000085
X66945_at
g13186246_3p_a_at
g182560_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-asparagine 546 replaced with L-lysine
Coordinate
546
PsiMod
A protein modification that effectively converts a source amino acid residue to L-lysine.
A protein modification that effectively removes or replaces an L-asparagine.
Disease
Name Identifier Synonyms
hypochondroplasia DOID:0080041
glioblastoma DOID:3068 spongioblastoma multiforme, Spongioblastoma multiforme, primary glioblastoma multiforme, Glioblastoma multiforme, Glioblastoma (morphologic abnormality), GBM (Glioblastoma), Glioblastoma NOS (morphologic abnormality)
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Interactors (25)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P09038 FGF2  1 0.912 9
 UniProt:P19174 PLCG1  6 0.903 11
 UniProt:P05230 FGF1  1 0.789 4
 UniProt:P46934 NEDD4  1 0.672 26
 UniProt:P08238 HSP90AB1  6 0.669 3
 UniProt:P27986 PIK3R1  16 0.644 6
 UniProt:Q8IVI9 NOSTRIN  2 0.633 5
 UniProt:P23352 ANOS1  1 0.626 7
 UniProt:P11362 FGFR1  9 0.623 4
 UniProt:P35222 CTNNB1  20 0.623 3
 UniProt:P08908 HTR1A  1 0.62 9
 UniProt:P10686 Plcg1  8 0.611 4
 UniProt:Q16543 CDC37  1 0.569 4
 UniProt:Q9NQH7 XPP3      0.569 3
 UniProt:P51812 RPS6KA3  7 0.569 3
 UniProt:Q8WU20 FRS2  6 0.569 3
 UniProt:O35082  2 0.558 2
 UniProt:Q9GZV9 FGF23  6 0.544 2
 UniProt:P22455 FGFR4  12 0.539 3
 UniProt:P12830 CDH1  8 0.536 3
 UniProt:P21802 FGFR2  20 0.499 2
 UniProt:Q7KZF4 SND1  2 0.483 2
 UniProt:P06493 CDK1  11 0.483 3
 UniProt:P46108 CRK  1 0.483 2
 UniProt:O88900  1 0.471 3
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