Reactome | FGFR3 K650M [plasma membrane]

FGFR3 K650M [plasma membrane]

Stable Identifier

R-HSA-1614402

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Literature References

PubMed ID	Title	Journal	Year
10053006	A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene Wilcox, WR, Jabs, EW, Bellus, GA, Bamshad, MJ, Wasmuth, JJ, Donoghue, DJ, Jiang, W, Fraley, AE, Francomano, CA, Thompson, LM, McIntosh, I, Szabo, J, Webster, MK, Tavormina, PL	Am J Hum Genet	1999
19855393	Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors Taylor, IB, Olesen, IA, Pfeifer, SP, McGowan, SJ, Goriely, A, Rajpert-De Meyts, E, McVean, GA, Jacobsen, GK, Wilkie, AO, Hansen, RM	Nat Genet	2009
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
11157491	Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma Mesri, EA, Kuehl, WM, Ely, SA, Chesi, M, Brents, LA, Bergsagel, PL, Bais, C, Robbiani, DF	Blood	2001

External Reference Information

External Reference

UniProt:P22607 FGFR3

Gene Names

FGFR3, JTK4

Chain

signal peptide:1-22, chain:23-806

Reference Genes

ENSEMBL:ENSG00000068078 FGFR3

Participates

as a member of

FGFR3 point mutants with enhanced kinase activity [plasma membrane] (Homo sapiens)

as a component of

FGFR3 K650M mutant dimer [plasma membrane] (Homo sapiens)

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 K650Q [plasma membrane]

FGFR3 A391E [plasma membrane]

FGFR3 K650E [plasma membrane]

FGFR3 G380R [plasma membrane]

FGFR3 G382D [plasma membrane]

FGFR3 805fs*141 [plasma membrane]

p-6Y-FGFR3 A391E [plasma membrane]

p-6Y-FGFR3 K650T [plasma membrane]

p-6Y-FGFR3 G382D [plasma membrane]

p-6Y-FGFR3 G380R [plasma membrane]

p-6Y-FGFR3 K650M [plasma membrane]

p-6Y-FGFR3 K650E [plasma membrane]

p-6Y-FGFR3 K650N [plasma membrane]

p-6Y-FGFR3 K650Q [plasma membrane]

pY-FGFR3 [plasma membrane]

p-6Y-FGFR3 R248C [plasma membrane]

p-6Y-FGFR3 805fs*141 [plasma membrane]

p-6Y-FGFR3 Y373C [plasma membrane]

p-4Y-FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]

p-4Y-FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]

p-4Y-FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]

p-4Y-FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]

p-4Y-FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]

p-4Y-FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]

p-6Y-FGFR3 G370C [plasma membrane]

p-6Y-FGFR3 S371C [plasma membrane]

FGFR3 R248C [plasma membrane]

FGFR3 G370C [plasma membrane]

FGFR3 Y373C [plasma membrane]

FGFR3 S371C [plasma membrane]

FGFR3 [plasma membrane]

Modified Residues

Name

L-lysine 650 replaced with L-methionine

Coordinate

650

PsiMod

L-methionine residue [MOD:00022]

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

L-lysine removal [MOD:01642]

A protein modification that effectively removes or replaces an L-lysine.

Disease

Name	Identifier	Synonyms
multiple myeloma	DOID:9538
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
thanatophoric dysplasia	DOID:13481
testicular cancer	DOID:2998	testicular tumor, testicular tumor (disorder), testis cancer, testis neoplasm, neoplasm of testis (disorder)

Cross References

COSMIC

COSM85791, COSV53391370

Interactors (52)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
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)	0.667	4
UniProt:O95674 CDS2	1	CDS2 [mitochondrial inner membrane] (R-HSA-1498755)	0.659	4
UniProt:Q7Z7J5 DPPA2	1	DPPA2 [nucleoplasm] (R-HSA-9816401)	0.556	3
UniProt:Q9Y2Y0 ARL2BP	2	ARL2BP [cytosol] (R-HSA-5215982) ARL2BP [mitochondrial matrix] (R-HSA-5250220)	0.556	3
UniProt:P62333 PSMC6	2	PSMC6 [cytosol] (R-HSA-68783) PSMC6 [nucleoplasm] (R-HSA-174319)	0.556	3
UniProt:Q6NXG1 ESRP1	3	ESRP1(1-606)-RAF1(227-648) fusion [cytosol] (R-HSA-6802312) ESRP1(1-606)-p-RAF1(227-648) fusion [cytosol] (R-HSA-6802523) ESRP1 [nucleoplasm] (R-HSA-6803472)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	0.556	3
UniProt:Q96EZ8 MCRS1	1	MCRS1 [nucleoplasm] (R-HSA-3321849)	0.556	3
UniProt:P22415 USF1	2	USF1 [nucleoplasm] (R-HSA-9023562) pT153 USF1 [nucleoplasm] (R-HSA-9855887)	0.556	3
UniProt:Q06547-2 GABPB1	1	NRF2 beta-2 subunit [nucleoplasm] (R-HSA-1592200)	0.556	3
UniProt:P38936 CDKN1A	5	p-S130-CDKN1A [nucleoplasm] (R-HSA-187857) CDKN1A [nucleoplasm] (R-HSA-182585) CDKN1A [cytosol] (R-HSA-182512) p-Y77-CDKN1A [cytosol] (R-HSA-8942601) p-T145-CDKN1A [cytosol] (R-HSA-198614)	0.556	3
UniProt:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	0.556	3
UniProt:Q99075 HBEGF	8	HBEGF(63-148) [clathrin-coated endocytic vesicle membrane] (R-HSA-9628819) HBEGF(20-208) [clathrin-coated endocytic vesicle membrane] (R-HSA-5334782) HBEGF(20-208) [endocytic vesicle membrane] (R-HSA-5334776) HB-EGF(161-208) [plasma membrane] (R-HSA-9624270) HBEGF(20-62) [extracellular region] (R-HSA-2179390) HBEGF(149-208) [extracellular region] (R-HSA-2179391) HBEGF(20-208) [plasma membrane] (R-HSA-2179406) HBEGF(63-148) [extracellular region] (R-HSA-1233234)	0.556	3
UniProt:Q9GZQ8 MAP1LC3B	3	MAP1LC3B [cytosol] (R-HSA-5205651) MAP1LC3B(2-121) [cytosol] (R-HSA-5682674) MAP1LC3B [autophagosome membrane] (R-HSA-5683641)	0.556	3
UniProt:Q04206 RELA	7	RELA [nucleoplasm] (R-HSA-177676) RELA [cytosol] (R-HSA-168172) p-S276-RELA [nucleoplasm] (R-HSA-5624468) p-S276,5xAcK-RELA [nucleoplasm] (R-HSA-5660642) polySUMO3-K37,K122,K123-RELA [nucleoplasm] (R-HSA-4755466) p-S536-RELA [nucleoplasm] (R-HSA-9861499) MeK310-RELA [nucleoplasm] (R-HSA-8865233)	0.556	3
UniProt:P10809 HSPD1	6	HSPD1(1-573) [cytosol] (R-HSA-1267989) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963) HSPD1(1-26) [mitochondrial matrix] (R-HSA-8986171) HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1 [mitochondrial matrix] (R-HSA-1299448)	0.556	3
UniProt:P05412 JUN	4	JUN [nucleoplasm] (R-HSA-450250) p-S63,S73-JUN [nucleoplasm] (R-HSA-450237) JUN [cytosol] (R-HSA-168194) p-S63,S73-JUN [cytosol] (R-HSA-8868682)	0.556	3
UniProt:Q8N3R9 MPP5	2	MPP5 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9689606) MPP5 [plasma membrane] (R-HSA-419969)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	0.556	3
UniProt:Q99743 NPAS2	2	NPAS2 [cytosol] (R-HSA-400314) p-S-NPAS2 [nucleoplasm] (R-HSA-421309)	0.556	3
UniProt:Q06323 PSME1	1	PSME1 [cytosol] (R-HSA-68812)	0.556	3
UniProt:P55318 FOXA3	1	FOXA3 [nucleoplasm] (R-HSA-211484)	0.556	3
UniProt:Q9NZH6 IL37	6	IL37(?-218) [extracellular region] (R-HSA-9008607) IL37 [extracellular region] (R-HSA-8848334) IL37(?-218) [cytosol] (R-HSA-9008584) IL37 [cytosol] (R-HSA-9008596) IL37(1-?) [cytosol] (R-HSA-9008602) IL37(?-218) [nucleoplasm] (R-HSA-9008702)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	0.556	3
UniProt:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.556	3
UniProt:Q9UJU6 DBNL	7	DBNL [ficolin-1-rich granule lumen] (R-HSA-6801510) DBNL [tertiary granule lumen] (R-HSA-6801516) DBNL [extracellular region] (R-HSA-6801604) DBNL [secretory granule lumen] (R-HSA-6801520) DBNL(1-361) [cytosol] (R-HSA-202925) DBNL(362-431) [cytosol] (R-HSA-202933) DBNL [cytosol] (R-HSA-202880)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [endosome membrane] (R-HSA-9631168) CHMP7 [cytosol] (R-HSA-917703)	0.556	3
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.556	3
UniProt:P24941 CDK2	5	p-T160-CDK2 [nucleoplasm] (R-HSA-187967) CDK2 [nucleoplasm] (R-HSA-68365) CDK2 [cytosol] (R-HSA-157440) p-CDK2 [nucleoplasm] (R-HSA-68370) p-Y15-CDK2 [nucleoplasm] (R-HSA-187905)	0.556	3
UniProt:Q8N5V2 NGEF	2	NGEF [cytosol] (R-HSA-3006800) p-Y179-NGEF [cytosol] (R-HSA-3928441)	0.556	3
UniProt:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	0.556	3
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	0.556	3
UniProt:Q6IAA8 LAMTOR1	5	LAMTOR1 [lysosomal membrane] (R-HSA-5653582) LAMTOR1 [ficolin-1-rich granule membrane] (R-HSA-6801003) LAMTOR1 [plasma membrane] (R-HSA-6806270) LAMTOR1 [azurophil granule membrane] (R-HSA-6799633) LAMTOR1 [specific granule membrane] (R-HSA-6799631)	0.556	3
UniProt:Q6N021 TET2	1	TET2 [nucleoplasm] (R-HSA-5221011)	0.556	3
UniProt:Q9UKV8 AGO2	2	AGO2 [cytosol] (R-HSA-209723) AGO2 [nucleoplasm] (R-HSA-5578701)	0.556	3
UniProt:O15534 PER1	4	p-S-PER1 [cytosol] (R-HSA-400310) p-S-PER1 [nucleoplasm] (R-HSA-3325590) PER1 [cytosol] (R-HSA-400373) Ub-p-S-PER1 [cytosol] (R-HSA-517831)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	0.556	3
UniProt:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	0.556	3
UniProt:Q86WV5 TEN1	1	TEN1 [nucleoplasm] (R-HSA-9668823)	0.556	3
UniProt:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:P22692 IGFBP4	5	IGFBP4 [extracellular region] (R-HSA-381421) IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8956754) p-IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8957038) IGFBP4(157-237) [extracellular region] (R-HSA-381510) IGFBP4(22-156) [extracellular region] (R-HSA-381516)	0.556	3
UniProt:P62244 RPS15A	2	RPS15A [cytosol] (R-HSA-72345) RPS15A [nucleoplasm] (R-HSA-6791191)	0.556	3
UniProt:Q13352 ITGB3BP	2	ITGB3BP [nucleoplasm] (R-HSA-606325) ITGB3BP [cytosol] (R-HSA-3006405)	0.556	3
UniProt:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	0.556	3
UniProt:P19388 POLR2E	2	POLR2E [cytosol] (R-HSA-1964438) POLR2E [nucleoplasm] (R-HSA-83713)	0.556	3
UniProt:O14641 DVL2	5	DVL2 [cytosol] (R-HSA-201694) pp-DVL2 [cytosol] (R-HSA-3772398) p-DVL2 [cytosol] (R-HSA-201706) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444) ub-DVL2 [cytosol] (R-HSA-4652689)	0.556	3
UniProt:O43504 LAMTOR5	1	LAMTOR5 [lysosomal membrane] (R-HSA-5655441)	0.556	3
UniProt:Q07869 PPARA	2	PPARA [nucleoplasm] (R-HSA-400186) monoSUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099)	0.556	3
UniProt:A0AVK6 E2F8	1	E2F8 [nucleoplasm] (R-HSA-8952990)	0.556	3

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