Reactome | FGFR3 K650M [plasma membrane]

FGFR3 K650M [plasma membrane]

Stable Identifier

R-HSA-1614402

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Icon

Locations in the PathwayBrowser

Expand all

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 Tavormina, PL, Bellus, GA, Webster, MK, Bamshad, MJ, Fraley, AE, McIntosh, I, Szabo, J, Jiang, W, Jabs, EW, Wilcox, WR, Wasmuth, JJ, Donoghue, DJ, Thompson, LM, Francomano, CA	Am J Hum Genet	1999
19855393	Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors Goriely, A, Hansen, RM, Taylor, IB, Olesen, IA, Jacobsen, GK, McGowan, SJ, Pfeifer, SP, McVean, GA, Rajpert-De Meyts, E, Wilkie, AO	Nat Genet	2009
12461689	Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders van Rhijn, BW, van Tilborg, AA, Lurkin, I, Bonaventure, J, de Vries, A, Thiery, JP, van der Kwast, TH, Zwarthoff, EC, Radvanyi, F	Eur J Hum Genet	2002
11157491	Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma Chesi, M, Brents, LA, Ely, SA, Bais, C, Robbiani, DF, Mesri, EA, Kuehl, WM, Bergsagel, PL	Blood	2001

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:hsa:2261 FGFR3

Monarch:2261 FGFR3

NCBI Gene:2261 FGFR3

OMIM:134934 FGFR3

UCSC:P22607 FGFR3

Reference Transcript

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

RefSeq

NP_001156685.1, XP_047305780.1, NP_075254.1, NP_000133.1

ZINC - World Drugs

FGFR3_HUMAN

Guide to Pharmacology - Targets

1810

OpenTargets

ENSG00000068078

ENSEMBL

ENSP00000231803, ENSP00000339824, ENST00000352904, ENST00000440486, ENSP00000414914, ENSG00000068078, ENST00000340107

Mondo

0017042

ZINC - FDA approved

FGFR3_HUMAN

ZINC - Substances

FGFR3_HUMAN

ZINC - Biogenic

FGFR3_HUMAN

ZINC target

P22607

PRO

P22607

GlyGen

P22607

PDB

4K33, 1RY7, 8UDU, 9CD7, 8UDV, 8UDT, 2LZL, 6PNX, 7YSU, 6LVM, 7DHL

ZINC - Investigational

FGFR3_HUMAN

COSMIC

COSM85791, COSV53391370

GeneCards

FGFR3

HPA

ENSG00000068078-FGFR3

Pharos - Targets

P22607

Orphanet

FGFR3

ZINC - Predictions - Purchasable

FGFR3_HUMAN

HMDB Protein

HMDBP01362

Interactors (55)

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:Q86WV5 TEN1	1	TEN1 [nucleoplasm] (R-HSA-9668823)	0.556	3
UniProt:Q96EZ8 MCRS1	1	MCRS1 [nucleoplasm] (R-HSA-3321849)	0.556	3
UniProt:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	0.556	3
UniProt:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:Q9UJU6 DBNL	7	DBNL [cytosol] (R-HSA-202880) DBNL(362-431) [cytosol] (R-HSA-202933) DBNL(1-361) [cytosol] (R-HSA-202925) DBNL [tertiary granule lumen] (R-HSA-6801516) DBNL [extracellular region] (R-HSA-6801604) DBNL [secretory granule lumen] (R-HSA-6801520) DBNL [ficolin-1-rich granule lumen] (R-HSA-6801510)	0.556	3
UniProt:P22692 IGFBP4	5	IGFBP4 [extracellular region] (R-HSA-381421) IGFBP4(157-237) [extracellular region] (R-HSA-381510) IGFBP4(22-156) [extracellular region] (R-HSA-381516) IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8956754) p-IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8957038)	0.556	3
UniProt:P55318 FOXA3	1	FOXA3 [nucleoplasm] (R-HSA-211484)	0.556	3
UniProt:O14641 DVL2	5	pp-DVL2 [cytosol] (R-HSA-3772398) p-DVL2 [cytosol] (R-HSA-201706) DVL2 [cytosol] (R-HSA-201694) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444) ub-DVL2 [cytosol] (R-HSA-4652689)	0.556	3
UniProt:Q9Y2Y0 ARL2BP	2	ARL2BP [cytosol] (R-HSA-5215982) ARL2BP [mitochondrial matrix] (R-HSA-5250220)	0.556	3
UniProt:Q6N021 TET2	1	TET2 [nucleoplasm] (R-HSA-5221011)	0.556	3
UniProt:O15534 PER1	4	PER1 [cytosol] (R-HSA-400373) p-S-PER1 [nucleoplasm] (R-HSA-3325590) p-S-PER1 [cytosol] (R-HSA-400310) K48polyUb-K,p-S-PER1 [cytosol] (R-HSA-517831)	0.556	3
UniProt:A0AVK6 E2F8	1	E2F8 [nucleoplasm] (R-HSA-8952990)	0.556	3
UniProt:P19388 POLR2E	2	POLR2E [cytosol] (R-HSA-1964438) POLR2E [nucleoplasm] (R-HSA-83713)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	0.556	3
UniProt:O43504 LAMTOR5	1	LAMTOR5 [lysosomal membrane] (R-HSA-5655441)	0.556	3
UniProt:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	0.556	3
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.556	3
UniProt:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	0.556	3
UniProt:Q9UKV8 AGO2	2	AGO2 [cytosol] (R-HSA-209723) AGO2 [nucleoplasm] (R-HSA-5578701)	0.556	3
UniProt:P10809 HSPD1	6	HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1 [mitochondrial matrix] (R-HSA-1299448) HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1(1-26) [mitochondrial matrix] (R-HSA-8986171) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963) HSPD1(1-573) [cytosol] (R-HSA-1267989)	0.556	3
UniProt:P22415 USF1	2	USF1 [nucleoplasm] (R-HSA-9023562) pT153 USF1 [nucleoplasm] (R-HSA-9855887)	0.556	3
UniProt:Q9H147 DNTTIP1	1	DNTTIP1 [nucleoplasm] (R-HSA-9815865)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	0.556	3
UniProt:Q8N5V2 NGEF	2	p-Y179-NGEF [cytosol] (R-HSA-3928441) NGEF [cytosol] (R-HSA-3006800)	0.556	3
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	0.556	3
UniProt:Q13352 ITGB3BP	2	ITGB3BP [cytosol] (R-HSA-3006405) ITGB3BP [nucleoplasm] (R-HSA-606325)	0.556	3
UniProt:Q06323 PSME1	1	PSME1 [cytosol] (R-HSA-68812)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	0.556	3
UniProt:Q99743 NPAS2	2	NPAS2 [cytosol] (R-HSA-400314) p-NPAS2 [nucleoplasm] (R-HSA-421309)	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:Q9GZQ8 MAP1LC3B	4	MAP1LC3B [cytosol] (R-HSA-5205651) MAP1LC3B(2-121) [cytosol] (R-HSA-5682674) MAP1LC3B [autophagosome membrane] (R-HSA-5683641) MAP1LC3B [extracellular exosome] (R-HSA-9959986)	0.556	3
UniProt:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	0.556	3
UniProt:Q07869 PPARA	2	PPARA [nucleoplasm] (R-HSA-400186) monoSUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099)	0.556	3
UniProt:P38936 CDKN1A	5	CDKN1A [nucleoplasm] (R-HSA-182585) CDKN1A [cytosol] (R-HSA-182512) p-Y77-CDKN1A [cytosol] (R-HSA-8942601) p-S130-CDKN1A [nucleoplasm] (R-HSA-187857) p-T145-CDKN1A [cytosol] (R-HSA-198614)	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: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:Q06547-2 GABPB1	1	NRF2 beta-2 subunit [nucleoplasm] (R-HSA-1592200)	0.556	3
UniProt:Q7Z7J5 DPPA2	1	DPPA2 [nucleoplasm] (R-HSA-9816401)	0.556	3
UniProt:P14618 PKM	4	PKM [nucleoplasm] (R-HSA-9931500) PKM [secretory granule lumen] (R-HSA-6801401) PKM [extracellular region] (R-HSA-6806491) PKM [ficolin-1-rich granule lumen] (R-HSA-6801387)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [cytosol] (R-HSA-917703) CHMP7 [endosome membrane] (R-HSA-9631168)	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:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	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 [specific granule membrane] (R-HSA-6799631) LAMTOR1 [azurophil granule membrane] (R-HSA-6799633)	0.556	3
UniProt:P62244 RPS15A	2	RPS15A [cytosol] (R-HSA-72345) RPS15A [nucleoplasm] (R-HSA-6791191)	0.556	3
UniProt:P62333 PSMC6	2	PSMC6 [cytosol] (R-HSA-68783) PSMC6 [nucleoplasm] (R-HSA-174319)	0.556	3
UniProt:Q8N3R9 PALS1	2	MPP5 [plasma membrane] (R-HSA-419969) MPP5 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9689606)	0.556	3
UniProt:Q6NXG1 ESRP1	3	ESRP1 [nucleoplasm] (R-HSA-6803472) ESRP1(1-606)-p-RAF1(227-648) fusion [cytosol] (R-HSA-6802523) ESRP1(1-606)-RAF1(227-648) fusion [cytosol] (R-HSA-6802312)	0.556	3
UniProt:Q12824 SMARCB1	1	SMARCB1 [nucleoplasm] (R-HSA-389261)	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:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3

Cite Us!