Reactome | FGFR3 K650N [plasma membrane]

FGFR3 K650N [plasma membrane]

Stable Identifier

R-HSA-1614406

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Literature References

PubMed ID	Title	Journal	Year
11055896	Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype Francomano, CA, Spector, EB, Bellus, GA, Garber, AT, Israel, J, Bryke, CR, Speiser, PW, Donoghue, DJ, Weaver, CA, Webster, MK, Rosengren, SS	Am J Hum Genet	2000
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
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

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 Gene (Homo sapiens):2261 FGFR3

Monarch:2261 FGFR3

NCBI Gene:2261 FGFR3

OMIM:134934 FGFR3

UCSC:P22607 FGFR3

Reference Transcript

Other Identifiers

0002940050

0003850722

11717969_a_at

11755786_a_at

16964027

204379_s_at

204380_s_at

2261

2715017

2715018

2715019

2715026

2715027

2715028

2715029

2715030

2715031

2715032

2715033

2715039

2715040

2715041

2715042

2715043

2715045

2715046

2715047

2715048

2715049

2715051

2715053

2715054

2715056

2715057

2715058

31805_at

8093518

A_14_P132738

A_23_P212830

A_23_P500501

GE577766

GE58034

GO:0000165

GO:0000166

GO:0001501

GO:0001958

GO:0002062

GO:0003416

GO:0003674

GO:0004672

GO:0004713

GO:0004714

GO:0005007

GO:0005515

GO:0005524

GO:0005575

GO:0005576

GO:0005622

GO:0005634

GO:0005737

GO:0005783

GO:0005794

GO:0005886

GO:0005887

GO:0005925

GO:0006464

GO:0006468

GO:0006629

GO:0006915

GO:0007165

GO:0007169

GO:0007267

GO:0007275

GO:0008150

GO:0008219

GO:0008283

GO:0008284

GO:0008543

GO:0009986

GO:0010518

GO:0016020

GO:0016021

GO:0016301

GO:0016310

GO:0016740

GO:0017134

GO:0018108

GO:0021700

GO:0030133

GO:0030154

GO:0030282

GO:0031410

GO:0032991

GO:0033674

GO:0035988

GO:0040007

GO:0042531

GO:0042802

GO:0043167

GO:0043226

GO:0043235

GO:0043410

GO:0043552

GO:0046777

GO:0048640

GO:0048856

GO:0051897

GO:0060349

GO:0070374

GO:0070977

GO:1902178

HMNXSV003038877

ILMN_1651966

ILMN_1723123

M64347_at

TC04000029.hg

TC04001856.hg

g13112046_3p_a_at

g182568_3p_a_at

Participates

as a member of

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

as a component of

FGFR3 K650N mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

FGFR3 K650T [plasma membrane]

FGFR3 K650M [plasma membrane]

FGFR3 K650Q [plasma membrane]

FGFR3 A391E [plasma membrane]

FGFR3 K650E [plasma membrane]

FGFR3 G380R [plasma membrane]

FGFR3 G382D [plasma membrane]

FGFR3 795fs*139 [plasma membrane]

FGFR3 [plasma membrane]

FGFR3 S371C [plasma membrane]

FGFR3 Y373C [plasma membrane]

FGFR3 G370C [plasma membrane]

FGFR3 R248C [plasma membrane]

p-6Y-FGFR3 S371C [plasma membrane]

p-6Y-FGFR3 G370C [plasma membrane]

p-6Y-FGFR3 Y373C [plasma membrane]

p-6Y-FGFR3 795fs*139 [plasma membrane]

p-6Y-FGFR3 R248C [plasma membrane]

pY-FGFR3 [plasma membrane]

p-6Y-FGFR3 K650Q [plasma membrane]

p-6Y-FGFR3 K650N [plasma membrane]

p-6Y-FGFR3 K650E [plasma membrane]

p-6Y-FGFR3 K650M [plasma membrane]

p-6Y-FGFR3 G380R [plasma membrane]

p-6Y-FGFR3 G382D [plasma membrane]

p-6Y-FGFR3 K650T [plasma membrane]

p-6Y-FGFR3 A391E [plasma membrane]

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

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

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

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

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

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

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]

Modified Residues

Name

L-lysine 650 replaced with L-asparagine

Coordinate

650

PsiMod

L-asparagine residue [MOD:00012]

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

L-lysine removal [MOD:01642]

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

Disease

Name	Identifier	Synonyms
bladder carcinoma	DOID:4007	carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
bone development disease	DOID:0080006
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
testicular cancer	DOID:2998	testicular tumor, testicular tumor (disorder), testis cancer, testis neoplasm, neoplasm of testis (disorder)
hypochondroplasia	DOID:0080041

Cross References

RefSeq

NP_075254.1, NP_000133.1, NP_001156685.1

ZINC - World Drugs

FGFR3_HUMAN

Guide to Pharmacology - Targets

1810

OpenTargets

ENSG00000068078

ZINC - FDA approved

FGFR3_HUMAN

ZINC - Substances

FGFR3_HUMAN

ZINC - Biogenic

FGFR3_HUMAN

ZINC target

P22607

PRO

P22607

GlyGen

P22607

PDB

1RY7, 7DHL, 6PNX, 6LVM, 2LZL, 4K33

ZINC - Investigational

FGFR3_HUMAN

HPA

ENSG00000068078-FGFR3

GeneCards

P22607

Ensembl

ENST00000412135, ENST00000440486, ENSP00000231803, ENSP00000412903, ENSG00000068078, ENSP00000339824, ENSP00000414914, ENST00000352904, ENST00000340107

Pharos - Targets

P22607

Orphanet

16047

ZINC - Predictions - Purchasable

FGFR3_HUMAN

HMDB Protein

HMDBP01362

Interactors (46)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q6NXG1 ESRP1	3	ESRP1-RAF1 fusion [cytosol] (R-HSA-6802312) ESRP1 [nucleoplasm] (R-HSA-6803472) p-ESRP1-RAF1 fusion [cytosol] (R-HSA-6802523)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3
UniProt:P01106 MYC	2	PolyUb-MYC [nucleoplasm] (R-HSA-6783169) MYC [nucleoplasm] (R-HSA-188379)	0.556	3
UniProt:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	0.556	3
UniProt:P62244 RPS15A	2	RPS15A [cytosol] (R-HSA-72345) RPS15A [nucleoplasm] (R-HSA-6791191)	0.556	3
UniProt:Q86WV5 TEN1	1	TEN1 [nucleoplasm] (R-HSA-9668823)	0.556	3
UniProt:P05412 JUN	4	p-S63,S73-JUN [nucleoplasm] (R-HSA-450237) JUN [cytosol] (R-HSA-168194) JUN [nucleoplasm] (R-HSA-450250) p-S63,S73-JUN [cytosol] (R-HSA-8868682)	0.556	3
UniProt:P22692 IGFBP4	5	IGFBP4(157-237) [extracellular region] (R-HSA-381510) p-IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8957038) IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8956754) IGFBP4 [extracellular region] (R-HSA-381421) IGFBP4(22-156) [extracellular region] (R-HSA-381516)	0.556	3
UniProt:P24941 CDK2	5	p-Y15-CDK2 [nucleoplasm] (R-HSA-187905) p-CDK2 [nucleoplasm] (R-HSA-68370) CDK2 [cytosol] (R-HSA-157440) CDK2 [nucleoplasm] (R-HSA-68365) p-T160-CDK2 [nucleoplasm] (R-HSA-187967)	0.556	3
UniProt:O14641 DVL2	5	p-DVL2 [cytosol] (R-HSA-201706) ub-DVL2 [cytosol] (R-HSA-4652689) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444) pp-DVL2 [cytosol] (R-HSA-3772398) DVL2 [cytosol] (R-HSA-201694)	0.556	3
UniProt:Q99743 NPAS2	2	p-S-NPAS2 [nucleoplasm] (R-HSA-421309) NPAS2 [cytosol] (R-HSA-400314)	0.556	3
UniProt:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	0.556	3
UniProt:Q9UNP9 PPIE	4	PPIE [ficolin-1-rich granule lumen] (R-HSA-6801393) PPIE [extracellular region] (R-HSA-6806493) PPIE [secretory granule lumen] (R-HSA-6801369) PPIE [nucleoplasm] (R-HSA-6781959)	0.556	3
UniProt:P19388 POLR2E	2	POLR2E [cytosol] (R-HSA-1964438) POLR2E [nucleoplasm] (R-HSA-83713)	0.556	3
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.556	3
UniProt:Q9NZH6 IL37	6	IL37(?-218) [nucleoplasm] (R-HSA-9008702) IL37(1-?) [cytosol] (R-HSA-9008602) IL37(?-218) [extracellular region] (R-HSA-9008607) IL37 [extracellular region] (R-HSA-8848334) IL37(?-218) [cytosol] (R-HSA-9008584) IL37 [cytosol] (R-HSA-9008596)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [endosome membrane] (R-HSA-9631168) CHMP7 [cytosol] (R-HSA-917703)	0.556	3
UniProt:Q04206 RELA	6	SUMO3-K37,K122,K123-RELA [nucleoplasm] (R-HSA-4755466) RELA [cytosol] (R-HSA-168172) MeK310-RELA [nucleoplasm] (R-HSA-8865233) p-S276,5xAcK-RELA [nucleoplasm] (R-HSA-5660642) RELA [nucleoplasm] (R-HSA-177676) p-S276-RELA [nucleoplasm] (R-HSA-5624468)	0.556	3
UniProt:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	0.556	3
UniProt:Q6IAA8 LAMTOR1	5	LAMTOR1 [azurophil granule membrane] (R-HSA-6799633) LAMTOR1 [ficolin-1-rich granule membrane] (R-HSA-6801003) LAMTOR1 [lysosomal membrane] (R-HSA-5653582) LAMTOR1 [specific granule membrane] (R-HSA-6799631) LAMTOR1 [plasma membrane] (R-HSA-6806270)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:P10809 HSPD1	6	HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963) HSPD1 [mitochondrial matrix] (R-HSA-1299448) HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1(1-26) [mitochondrial matrix] (R-HSA-8986171) HSPD1(1-573) [cytosol] (R-HSA-1267989)	0.556	3
UniProt:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	0.556	3
UniProt:Q9GZQ8 MAP1LC3B	3	MAP1LC3B(2-121) [cytosol] (R-HSA-5682674) MAP1LC3B [autophagosome membrane] (R-HSA-5683641) MAP1LC3B [cytosol] (R-HSA-5205651)	0.556	3
UniProt:Q99075 HBEGF	9	HBEGF(20-208) [clathrin-coated endocytic vesicle membrane] (R-HSA-5334782) HB-EGF(161-208) [plasma membrane] (R-HSA-9624270) HBEGF(63-148) [clathrin-coated endocytic vesicle membrane] (R-HSA-9628819) HBEGF(63-148) [extracellular region] (R-HSA-1233234) HBEGF(20-208) [plasma membrane] (R-HSA-2179406) HBEGF(20-62) [extracellular region] (R-HSA-2179390) HBEGF(20-208) [plasma membrane] (R-HSA-5334771) HBEGF(149-208) [extracellular region] (R-HSA-2179391) HBEGF(20-208) [endocytic vesicle membrane] (R-HSA-5334776)	0.556	3
UniProt:Q9UJU6 DBNL	7	DBNL [cytosol] (R-HSA-202880) DBNL [tertiary granule lumen] (R-HSA-6801516) DBNL [secretory granule lumen] (R-HSA-6801520) DBNL [extracellular region] (R-HSA-6801604) DBNL(1-361) [cytosol] (R-HSA-202925) DBNL [ficolin-1-rich granule lumen] (R-HSA-6801510) DBNL(362-431) [cytosol] (R-HSA-202933)	0.556	3
UniProt:P55318 FOXA3	1	FOXA3 [nucleoplasm] (R-HSA-211484)	0.556	3
UniProt:Q13352 ITGB3BP	2	ITGB3BP [cytosol] (R-HSA-3006405) ITGB3BP [nucleoplasm] (R-HSA-606325)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	0.556	3
UniProt:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	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:Q07869 PPARA	2	PPARA [nucleoplasm] (R-HSA-400186) SUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099)	0.556	3
UniProt:O15534 PER1	4	PER1 [cytosol] (R-HSA-400373) p-S-PER1 [nucleoplasm] (R-HSA-3325590) Ub-p-S-PER1 [cytosol] (R-HSA-517831) p-S-PER1 [cytosol] (R-HSA-400310)	0.556	3
UniProt:Q9Y2Y0 ARL2BP	2	ARL2BP [mitochondrial matrix] (R-HSA-5250220) ARL2BP [cytosol] (R-HSA-5215982)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	0.556	3
UniProt:P22415 USF1	1	USF1 [nucleoplasm] (R-HSA-9023562)	0.556	3
UniProt:Q8N3R9 PALS1	1	MPP5 [plasma membrane] (R-HSA-419969)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	0.556	3
UniProt:Q06547-2 GABPB1	1	NRF2 beta-2 subunit [nucleoplasm] (R-HSA-1592200)	0.556	3
UniProt:A0AVK6 E2F8	1	E2F8 [nucleoplasm] (R-HSA-8952990)	0.556	3
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.556	3
UniProt:Q8N5V2 NGEF	2	p-Y179-NGEF [cytosol] (R-HSA-3928441) NGEF [cytosol] (R-HSA-3006800)	0.556	3
UniProt:O95674 CDS2	1	CDS2 [mitochondrial inner membrane] (R-HSA-1498755)	0.556	3
UniProt:P08238 HSP90AB1	6	HSP90AB1 [lysosomal lumen] (R-HSA-9622846) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491)	0.524	2

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