Reactome | FGFR1 N546K [plasma membrane]

FGFR1 N546K [plasma membrane]

Stable Identifier

R-HSA-1614377

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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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

UniProt:P11362 FGFR1

Gene Names

FGFR1, BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR

Chain

signal peptide:1-21, chain:22-822

Reference Genes

ENSEMBL:ENSG00000077782 FGFR1

Participates

as a member of

FGFR1 mutants with enhanced kinase activity [plasma membrane] (Homo sapiens)

as a component of

FGFR1 N546K mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

FGFR1 [plasma membrane]

p-8Y- FGFR1 R576W [plasma membrane]

p-8Y-FGFR1 N546K [plasma membrane]

p-8Y-FGFR1 K656E [plasma membrane]

p-6Y-FGFR1(22-763):TACC1(571-805) fusion [plasma membrane]

FGFR1 R576W [plasma membrane]

FGFR1 K656E [plasma membrane]

FGFR1(22-763):TACC1(571-805) fusion [plasma membrane]

Modified Residues

Name

L-asparagine 546 replaced with L-lysine

Coordinate

546

PsiMod

L-lysine residue [MOD:00021]

A protein modification that effectively converts a source amino acid residue to L-lysine.

L-asparagine removal [MOD:01633]

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

Cross References

COSMIC

COSV58329537

Interactors (25)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P09038 FGF2	1	FGF2(10-155) [extracellular region] (R-HSA-189898)	0.912	9
UniProt:P19174 PLCG1	6	p-4Y-PLCG1 [plasma membrane] (R-HSA-167679) PLCG1 [cytosol] (R-HSA-202320) PLCG1 [plasma membrane] (R-HSA-167682) p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-HSA-202357) p-Y771,Y783-PLCG1 [plasma membrane] (R-HSA-1169084) p-Y-PLCG1 [cytosol] (R-HSA-9029082)	0.903	11
UniProt:P05230 FGF1	1	FGF1 [extracellular region] (R-HSA-189856)	0.838	5
UniProt:P46934 NEDD4	1	NEDD4 [cytosol] (R-HSA-975992)	0.672	26
UniProt:P51812 RPS6KA3	7	p-S227,T365,S369,S386,T577,T737-RPS6KA3 [nucleoplasm] (R-HSA-444286) p-T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619989) p-S227,T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619872) p-T365,S369,T577-RPS6KA3 [cytosol] (R-HSA-9619959) RPS6KA3 [cytosol] (R-HSA-444250) p-4S,T231,T365-RPS6KA3 [nucleoplasm] (R-HSA-199830) RPS6KA3 [nucleoplasm] (R-HSA-199869)	0.671	4
UniProt:P08238 HSP90AB1	6	HSP90AB1 [lysosomal lumen] (R-HSA-9622846) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491)	0.669	3
UniProt:P27986 PIK3R1	16	PIK3R1 [plasma membrane] (R-HSA-198365) PIK3R1 [cytosol] (R-HSA-74789) K63polyUb-PIK3R1 [cytosol] (R-HSA-3080572) PIK3R1 R574T [plasma membrane] (R-HSA-2399540) PIK3R1 R574I [plasma membrane] (R-HSA-2399536) PIK3R1 D560H [plasma membrane] (R-HSA-2399432) PIK3R1 N564K [plasma membrane] (R-HSA-2399431) PIK3R1 K459del [plasma membrane] (R-HSA-2399554) PIK3R1 N564D [plasma membrane] (R-HSA-2399427) PIK3R1 D560Y [plasma membrane] (R-HSA-2399421) PIK3R1 R574_T576del [plasma membrane] (R-HSA-2399544) PIK3R1 H450_E451del [plasma membrane] (R-HSA-2399545) PIK3R1 Y463_L466del [plasma membrane] (R-HSA-2399546) PIK3R1 K379E [plasma membrane] (R-HSA-8944148) PIK3R1 G376R [plasma membrane] (R-HSA-2399717) p-Y-PIK3R1 [cytosol] (R-HSA-9680647)	0.644	6
UniProt:Q8IVI9 NOSTRIN	2	NOSTRIN [endocytic vesicle membrane] (R-HSA-535014) NOSTRIN [plasma membrane] (R-HSA-202134)	0.633	5
UniProt:P23352 ANOS1	1	KAL1 [extracellular region] (R-HSA-5654345)	0.626	7
UniProt:P11362 FGFR1	9	FGFR1 [plasma membrane] (R-HSA-9756433) p-8Y- FGFR1 R576W [plasma membrane] (R-HSA-2023361) p-8Y-FGFR1 N546K [plasma membrane] (R-HSA-2023358) p-8Y-FGFR1 K656E [plasma membrane] (R-HSA-2023356) p-6Y-FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853142) FGFR1 R576W [plasma membrane] (R-HSA-2011844) FGFR1 N546K [plasma membrane] (R-HSA-1614377) FGFR1 K656E [plasma membrane] (R-HSA-1614373) FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853241)	0.623	4
UniProt:P35222 CTNNB1	20	CTNNB1 S45A [cytosol] (R-HSA-9663982) CTNNB1 S45F [cytosol] (R-HSA-4791268) CTNNB1 S45C [cytosol] (R-HSA-9663983) CTNNB1 S45Y [cytosol] (R-HSA-9663975) CTNNB1 S45N [cytosol] (R-HSA-9663984) CTNNB1 S45P [cytosol] (R-HSA-4791272) pT41,S45-CTNNB1 S37P [cytosol] (R-HSA-9663981) pT41,S45-CTNNB1 S37F [cytosol] (R-HSA-4839621) CTNNB1 [nucleoplasm] (R-HSA-3451168) CTNNB1 [cytosol] (R-HSA-448839) CTNNB1(1-115) [cytosol] (R-HSA-202930) CTNNB1(116-376) [cytosol] (R-HSA-202950) CTNNB1 [plasma membrane] (R-HSA-9038440) p-S33,S37,T41,S45 CTNNB1 [cytosol] (R-HSA-8942374) p-S37,T41,S45, CTNNB1 [cytosol] (R-HSA-8942369) p-T41,S45 CTNNB1 [cytosol] (R-HSA-8942367) p-S45 CTNNB1 [cytosol] (R-HSA-8942363) p-S552-CTNNB1 [cytosol] (R-HSA-3134933) p-S552-CTNNB1 [nucleoplasm] (R-HSA-3134926) p-Y-CTNNB1 [cytosol] (R-HSA-8876940)	0.623	3
UniProt:P21802 FGFR2	20	FGFR2 IIIa TM [extracellular region] (R-HSA-8851703) FGFR2 [plasma membrane] (R-HSA-2023840) FGFR2(22-767)-CCDC6(102-474) fusion [plasma membrane] (R-HSA-8853137) FGFR2(2-822)-CIT(927-2027) fusion [plasma membrane] (R-HSA-8853154) FGFR2(22-768)-BICC1(80-974) fusion [plasma membrane] (R-HSA-8853123) FGFR2(22-767)-AHCYL1(108-530) fusion [plasma membrane] (R-HSA-8853158) FGFR2(22-767)-OFD1(38-1012) fusion [plasma membrane] (R-HSA-8853150) FGFR2(22-767)-CASP7(1-303) fusion [plasma membrane] (R-HSA-8853153) FGFR2(22-767)-AFF3(292-1226) fusion [plasma membrane] (R-HSA-8853139) FGFR2(22-767)-CCAR(51-923) fusion [plasma membrane] (R-HSA-8853159) FGFR2 N549H [plasma membrane] (R-HSA-2033296) FGFR2 N549K [plasma membrane] (R-HSA-1637910) FGFR2 K660N [plasma membrane] (R-HSA-1637905) p-8Y-FGFR2 K660M [plasma membrane] (R-HSA-2033300) p-8Y-FGFR2 K660E [plasma membrane] (R-HSA-2033298) phosphorylated FGFR2 L764Hfs*4 [plasma membrane] (R-HSA-2071957) p-8Y-FGFR2 W290C [plasma membrane] (R-HSA-2029875) p-8Y-FGFR2 S267P [plasma membrane] (R-HSA-2029879) p-8Y-FGFR2 [plasma membrane] (R-HSA-2029874) p-8Y-FGFR2 N549K [plasma membrane] (R-HSA-2033306)	0.623	3
UniProt:P08908 HTR1A	1	HTR1A [plasma membrane] (R-HSA-390971)	0.62	9
UniProt:P10686 Plcg1	8	p-4Y-Plcg1 [plasma membrane] (R-RNO-9034825) phospho-p-Y771,Y783-PLCG1 [plasma membrane] (R-RNO-1169084) phospho-p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-RNO-202357) p-Plcg1 [plasma membrane] (R-RNO-182042) Plcg1 [plasma membrane] (R-RNO-182093) PLCG1 [plasma membrane] (R-RNO-167682) PLCG1 [cytosol] (R-RNO-202320) phospho-p-4Y-PLCG1 [plasma membrane] (R-RNO-167679)	0.611	4
UniProt:Q16543 CDC37	1	CDC37 [cytosol] (R-HSA-1221609)	0.569	4
UniProt:Q9NQH7 XPP3			0.569	3
UniProt:Q8WU20 FRS2	6	p-6Y-FRS2 [plasma membrane] (R-HSA-170959) FRS2 [plasma membrane] (R-HSA-170963) p-8T-FRS2 [plasma membrane] (R-HSA-1270462) p-6Y-FRS2 [cytosol] (R-HSA-190355) FRS2 [cytosol] (R-HSA-190244) p-Y-FRS2 [cytosol] (R-HSA-162551)	0.569	3
UniProt:O35082	2	Kl [plasma membrane] (R-MMU-190198) Kl [extracellular region] (R-MMU-190201)	0.558	2
UniProt:Q9GZV9 FGF23	6	p-FGF23 [endoplasmic reticulum lumen] (R-HSA-8957077) FGF23 [endoplasmic reticulum lumen] (R-HSA-8956697) FGF23(25-251) [Golgi lumen] (R-HSA-8851630) GalNAc-T178-FGF23(25-251) [Golgi lumen] (R-HSA-8851624) FGF23(25-251) [extracellular region] (R-HSA-189891) GalNAc-T178-FGF23(25-251) [extracellular region] (R-HSA-8851633)	0.544	2
UniProt:P22455 FGFR4	12	p-5Y-FGFR4 [plasma membrane] (R-HSA-190330) FGFR4 [plasma membrane] (R-HSA-189921) p5Y-FGFR4 Y367C mutant [plasma membrane] (R-HSA-2011873) p-5Y-FGFR4 N535D [plasma membrane] (R-HSA-2038934) p-5Y-FGFR4 V550L [plasma membrane] (R-HSA-2038935) p-5Y-FGFR4 N535K [plasma membrane] (R-HSA-2038931) p-5Y-FGFR4 V550E [plasma membrane] (R-HSA-2038932) FGFR4 N535D [plasma membrane] (R-HSA-1614427) FGFR4 V550L [plasma membrane] (R-HSA-1614436) FGFR4 V550E [plasma membrane] (R-HSA-1614433) FGFR4 N535K [plasma membrane] (R-HSA-1614430) FGFR4 Y367C [plasma membrane] (R-HSA-1614439)	0.539	3
UniProt:P12830 CDH1	8	CDH1(155-882) [plasma membrane] (R-HSA-198003) CDH1(751-882) [plasma membrane] (R-HSA-202929) CDH1(155-750) [plasma membrane] (R-HSA-202940) p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8876938) Ub-K,p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8877002) CDH1(701-882) [extracellular region] (R-HSA-2534158) CDH1(155-700) [plasma membrane] (R-HSA-2534244) CDH1(732-882) [plasma membrane] (R-HSA-3827997)	0.536	3
UniProt:Q7KZF4 SND1	2	SND1(1-593)-BRAF(381-766) fusion [cytosol] (R-HSA-6802469) SND1(1-593)-p-BRAF(381-766) fusion [cytosol] (R-HSA-6802552)	0.483	2
UniProt:P46108 CRK	1	CRK [cytosol] (R-HSA-2980677)	0.483	2
UniProt:P06493 CDK1	11	p-T161-CDK1 [nucleoplasm] (R-HSA-170066) p-T14,Y15,T161-CDK1 [nucleoplasm] (R-HSA-170074) p-T161-CDK1 [cytosol] (R-HSA-157415) p-T14,Y15,T161-CDK1 [cytosol] (R-HSA-170071) CDK1 [cytosol] (R-HSA-170075) CDK1 [nucleoplasm] (R-HSA-68889) p-T14-CDK1 [cytosol] (R-HSA-170064) p-T14-CDK1 [nucleoplasm] (R-HSA-170045) p-T14,T161-CDK1 [nucleoplasm] (R-HSA-170078) p-Y4-CDK1 [cytosol] (R-HSA-9836187) CDK1 [endoplasmic reticulum membrane] (R-HSA-264424)	0.483	3
UniProt:O88900	1	Grb14 [cytosol] (R-RNO-204771)	0.471	3

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