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

BioGPS Gene:2260 FGFR1

COSMIC (genes):FGFR1 FGFR1

CTD Gene:2260 FGFR1

dbSNP Gene:2260 FGFR1

ENSEMBL:ENSG00000077782 FGFR1

ENSEMBL_homo_sapiens_GENE:ENSG00000077782.23 FGFR1

HGNC:3688 FGFR1

KEGG Gene (Homo sapiens):2260 FGFR1

Monarch:2260 FGFR1

NCBI Gene:2260 FGFR1

OMIM:136350 FGFR1

UCSC:P11362 FGFR1

Reference Transcript

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:0000122

GO:0000165

GO:0000166

GO:0000278

GO:0001501

GO:0001525

GO:0001657

GO:0001701

GO:0001759

GO:0001764

GO:0001837

GO:0002053

GO:0002062

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:0006260

GO:0006351

GO:0006355

GO:0006468

GO:0006629

GO:0006766

GO:0007165

GO:0007169

GO:0007420

GO:0007435

GO:0007605

GO:0008201

GO:0008283

GO:0008284

GO:0008543

GO:0010463

GO:0010467

GO:0010468

GO:0010518

GO:0010629

GO:0010863

GO:0010966

GO:0010976

GO:0012501

GO:0016020

GO:0016301

GO:0016310

GO:0016477

GO:0016740

GO:0017134

GO:0018108

GO:0021769

GO:0021847

GO:0023052

GO:0030031

GO:0030154

GO:0030324

GO:0030326

GO:0030901

GO:0031175

GO:0031410

GO:0031982

GO:0035607

GO:0036211

GO:0042169

GO:0042472

GO:0042473

GO:0042474

GO:0042802

GO:0042803

GO:0043009

GO:0043226

GO:0043235

GO:0043406

GO:0043410

GO:0043536

GO:0043583

GO:0045595

GO:0045597

GO:0045666

GO:0045787

GO:0046777

GO:0048015

GO:0048339

GO:0048378

GO:0048469

GO:0048513

GO:0048514

GO:0048699

GO:0048705

GO:0048762

GO:0048856

GO:0048863

GO:0048870

GO:0050678

GO:0050877

GO:0050886

GO:0051174

GO:0051897

GO:0055065

GO:0055074

GO:0060038

GO:0060045

GO:0060089

GO:0060117

GO:0060255

GO:0060445

GO:0060484

GO:0060665

GO:0070640

GO:0071344

GO:0071529

GO:0072089

GO:0090080

GO:0090272

GO:0090722

GO:0140096

GO:1903465

GO:1904383

GO:1905564

GO:2000546

GO:2000648

GO:2000830

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

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

FGFR1 K656E [plasma membrane]

FGFR1 R576W [plasma membrane]

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

p-8Y-FGFR1 K656E [plasma membrane]

p-8Y-FGFR1 N546K [plasma membrane]

p-8Y- FGFR1 R576W [plasma membrane]

FGFR1 [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

RefSeq

NP_075594.1, NP_075593.1, NP_056934.2, NP_001167535.1, NP_075598.2, NP_001167534.1, NP_001167537.1, NP_001167538.1, NP_001167536.1

ZINC - World Drugs

FGFR1_HUMAN

Guide to Pharmacology - Targets

1808

OpenTargets

ENSG00000077782

ZINC - FDA approved

FGFR1_HUMAN

ZINC - Substances

FGFR1_HUMAN

ZINC target

P11362

ZINC - Biogenic

FGFR1_HUMAN

PRO

P11362

PDB

4NKS, 4WUN, 8JMZ, 4RWI, 4V04, 1FGK, 3RHX, 1FGI, 5A4C, 3KRJ, 6C19, 5UR1, 2CR3, 5A46, 4V05, 6P68, 6C1C, 8XLO, 5Z0S, 6C18, 7OZF, 3KRL, 6MZQ, 4ZSA, 3TT0, 5B7V, 2FGI, 7OZD, 5EW8, 1AGW, 7WCL, 6MZW, 6C1O, 3DPK, 3JS2, 7OZB, 4UWB, 3GQL, 5AM6, 5UQ0, 5FLF, 5W21, 5O4A, 7YSH, 6P69, 4F65, 4UWY, 1CVS, 4UWC, 5AM7, 4NKA, 4RWJ, 4RWK, 5O49, 5VND, 6C1B, 6ITJ, 3GQI, 5ZV2, 4F63, 3OJV, 5W59, 1XR0, 3KXX, 4RWL, 3C4F, 4F64, 4NK9, 3KY2, 1FQ9, 6NVL, 4V01, 1EVT

ZINC - Investigational

FGFR1_HUMAN

COSMIC

COSV58329537

IntEnz

2.7.10.1

HPA

ENSG00000077782-FGFR1

GeneCards

P11362

Ensembl

ENST00000356207, ENSP00000337247, ENSP00000380297, ENSP00000380280, ENSP00000348537, ENST00000397091, ENST00000532791, ENSG00000077782, ENST00000484370, ENST00000447712, ENSP00000400162, ENSP00000433163, ENST00000397108, ENST00000335922, ENST00000397113, ENSP00000380302, ENSP00000327229, ENSP00000432972, ENST00000326324

Pharos - Targets

P11362

Orphanet

16046

ZINC - Predictions - Purchasable

FGFR1_HUMAN

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-Y-PLCG1 [cytosol] (R-HSA-9029082) 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)	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	RPS6KA3 [nucleoplasm] (R-HSA-199869) p-4S,T231,T365-RPS6KA3 [nucleoplasm] (R-HSA-199830) RPS6KA3 [cytosol] (R-HSA-444250) p-T365,S369,T577-RPS6KA3 [cytosol] (R-HSA-9619959) p-S227,T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619872) p-T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619989) p-S227,T365,S369,S386,T577,T737-RPS6KA3 [nucleoplasm] (R-HSA-444286)	0.671	4
UniProt:P08238 HSP90AB1	6	HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [lysosomal lumen] (R-HSA-9622846)	0.669	3
UniProt:P27986 PIK3R1	16	p-Y-PIK3R1 [cytosol] (R-HSA-9680647) PIK3R1 G376R [plasma membrane] (R-HSA-2399717) PIK3R1 K379E [plasma membrane] (R-HSA-8944148) PIK3R1 Y463_L466del [plasma membrane] (R-HSA-2399546) PIK3R1 H450_E451del [plasma membrane] (R-HSA-2399545) PIK3R1 R574_T576del [plasma membrane] (R-HSA-2399544) PIK3R1 D560Y [plasma membrane] (R-HSA-2399421) PIK3R1 N564D [plasma membrane] (R-HSA-2399427) PIK3R1 K459del [plasma membrane] (R-HSA-2399554) PIK3R1 N564K [plasma membrane] (R-HSA-2399431) PIK3R1 D560H [plasma membrane] (R-HSA-2399432) PIK3R1 R574I [plasma membrane] (R-HSA-2399536) PIK3R1 R574T [plasma membrane] (R-HSA-2399540) K63polyUb-PIK3R1 [cytosol] (R-HSA-3080572) PIK3R1 [cytosol] (R-HSA-74789) PIK3R1 [plasma membrane] (R-HSA-198365)	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(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853241) FGFR1 K656E [plasma membrane] (R-HSA-1614373) FGFR1 N546K [plasma membrane] (R-HSA-1614377) FGFR1 R576W [plasma membrane] (R-HSA-2011844) p-6Y-FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853142) p-8Y-FGFR1 K656E [plasma membrane] (R-HSA-2023356) p-8Y-FGFR1 N546K [plasma membrane] (R-HSA-2023358) p-8Y- FGFR1 R576W [plasma membrane] (R-HSA-2023361) FGFR1 [plasma membrane] (R-HSA-9756433)	0.623	4
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) FGFR2 K660M [plasma membrane] (R-HSA-1637902) FGFR2 K660E [plasma membrane] (R-HSA-1637900) FGFR2 S267P [plasma membrane] (R-HSA-1637920) FGFR2 L764Hfs*4 [plasma membrane] (R-HSA-1637908) FGFR2 W290C [plasma membrane] (R-HSA-1637929) p-6Y-FGFR2(22-767)-CCDC6(102-474) fusion [plasma membrane] (R-HSA-8853134) p-6Y-FGFR2(22-768)-BICC1(80-974) fusion [plasma membrane] (R-HSA-8853146)	0.623	3
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) pT41,S45-CTNNB1 S37A [cytosol] (R-HSA-4839619) pT41,S45-CTNNB1 S37Y [cytosol] (R-HSA-9663978) pT41,S45-CTNNB1 S37C [cytosol] (R-HSA-4839617) pS37,T41,S45-CTNNB1 S33A [cytosol] (R-HSA-9663976) pS37,T41,S45-CTNNB1 S33T [cytosol] (R-HSA-9663977) pS37,T41,S45-CTNNB1 S33C [cytosol] (R-HSA-4839630) pS37,T41,S45-CTNNB1 S33F [cytosol] (R-HSA-4839628) pS37,T41,S45-CTNNB1 S33P [cytosol] (R-HSA-4839626) pS37,T41,S45-CTNNB1 S33Y [cytosol] (R-HSA-4839625) pS45-CTNNB1 T41N [cytosol] (R-HSA-9663980) pS45-CTNNB1 T41A [cytosol] (R-HSA-4836868) pS45-CTNNB1 T41I [cytosol] (R-HSA-4839612)	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-Y-FRS2 [cytosol] (R-HSA-162551) FRS2 [cytosol] (R-HSA-190244) p-6Y-FRS2 [cytosol] (R-HSA-190355) p-8T-FRS2 [plasma membrane] (R-HSA-1270462) FRS2 [plasma membrane] (R-HSA-170963) p-6Y-FRS2 [plasma membrane] (R-HSA-170959)	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	FGFR4 Y367C [plasma membrane] (R-HSA-1614439) FGFR4 N535K [plasma membrane] (R-HSA-1614430) FGFR4 V550E [plasma membrane] (R-HSA-1614433) FGFR4 V550L [plasma membrane] (R-HSA-1614436) FGFR4 N535D [plasma membrane] (R-HSA-1614427) p-5Y-FGFR4 V550E [plasma membrane] (R-HSA-2038932) p-5Y-FGFR4 N535K [plasma membrane] (R-HSA-2038931) p-5Y-FGFR4 V550L [plasma membrane] (R-HSA-2038935) p-5Y-FGFR4 N535D [plasma membrane] (R-HSA-2038934) p5Y-FGFR4 Y367C mutant [plasma membrane] (R-HSA-2011873) FGFR4 [plasma membrane] (R-HSA-189921) p-5Y-FGFR4 [plasma membrane] (R-HSA-190330)	0.539	3
UniProt:P12830 CDH1	8	CDH1(732-882) [plasma membrane] (R-HSA-3827997) CDH1(155-700) [plasma membrane] (R-HSA-2534244) CDH1(701-882) [extracellular region] (R-HSA-2534158) Ub-K,p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8877002) p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8876938) CDH1(155-750) [plasma membrane] (R-HSA-202940) CDH1(751-882) [plasma membrane] (R-HSA-202929) CDH1(155-882) [plasma membrane] (R-HSA-198003)	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:P06493 CDK1	11	CDK1 [endoplasmic reticulum membrane] (R-HSA-264424) p-Y4-CDK1 [cytosol] (R-HSA-9836187) p-T14,T161-CDK1 [nucleoplasm] (R-HSA-170078) p-T14-CDK1 [nucleoplasm] (R-HSA-170045) p-T14-CDK1 [cytosol] (R-HSA-170064) CDK1 [nucleoplasm] (R-HSA-68889) CDK1 [cytosol] (R-HSA-170075) p-T14,Y15,T161-CDK1 [cytosol] (R-HSA-170071) p-T161-CDK1 [cytosol] (R-HSA-157415) p-T14,Y15,T161-CDK1 [nucleoplasm] (R-HSA-170074) p-T161-CDK1 [nucleoplasm] (R-HSA-170066)	0.483	3
UniProt:P46108 CRK	1	CRK [cytosol] (R-HSA-2980677)	0.483	2
UniProt:O88900	1	Grb14 [cytosol] (R-RNO-204771)	0.471	3

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