Reactome | FGFR3 A391E [plasma membrane]

FGFR3 A391E [plasma membrane]

Stable Identifier

R-HSA-1614390

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Literature References

PubMed ID	Title	Journal	Year
7493034	Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans Jabs, EW, Munro, IR, Meyers, GA, Orlow, SJ, Przylepa, KA	Nat Genet	1995
16384584	FGFR3 dimer stabilization due to a single amino acid pathogenic mutation You, M, Hristova, K, Li, E	J Mol Biol	2006
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

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

ENSEMBL_homo_sapiens_GENE:ENSG00000068078.20 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

11717969_a_at

11755786_a_at

16964027

204379_PM_s_at

204379_s_at

204380_PM_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:0003824

GO:0004672

GO:0004713

GO:0004714

GO:0005007

GO:0005515

GO:0005524

GO:0005576

GO:0005783

GO:0005794

GO:0005886

GO:0005925

GO:0006468

GO:0006915

GO:0007169

GO:0007259

GO:0007267

GO:0008284

GO:0008543

GO:0009986

GO:0010518

GO:0012501

GO:0016020

GO:0016301

GO:0016310

GO:0016740

GO:0017134

GO:0023052

GO:0030133

GO:0030154

GO:0030282

GO:0031410

GO:0035988

GO:0036211

GO:0042531

GO:0042802

GO:0043226

GO:0043235

GO:0043410

GO:0048640

GO:0048856

GO:0051897

GO:0060089

GO:0060349

GO:0070374

GO:0070977

GO:0140096

GO:1902178

HMNXSV003038877

ILMN_1651966

ILMN_1723123

M64347_at

TC04000029.hg

TC04001856.hg

g13112046_3p_a_at

g182568_3p_a_at

Participates

as a candidate of

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

as a component of

FGFR3 A319E 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 K650M [plasma membrane]

FGFR3 K650Q [plasma membrane]

FGFR3 K650E [plasma membrane]

FGFR3 G380R [plasma membrane]

FGFR3 G382D [plasma membrane]

FGFR3 805fs*141 [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-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]

p-6Y-FGFR3 Y373C [plasma membrane]

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

Modified Residues

Name

L-alanine 391 replaced with L-glutamic acid

Coordinate

391

PsiMod

L-alanine removal [MOD:01631]

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

L-glutamic acid residue [MOD:00015]

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

Disease

Name	Identifier	Synonyms
Crouzon syndrome	DOID:2339	Craniofacial Dysostosis
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

Cross References

RefSeq

NP_001156685.1, NP_000133.1, NP_075254.1

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

PDB

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

ZINC - Investigational

FGFR3_HUMAN

COSMIC

COSV53391630

GeneCards

P22607

HPA

ENSG00000068078-FGFR3

Ensembl

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

Pharos - Targets

P22607

ZINC - Predictions - Purchasable

FGFR3_HUMAN

Orphanet

16047

Interactors (52)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
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)	0.667	4
UniProt:O95674 CDS2	1	CDS2 [mitochondrial inner membrane] (R-HSA-1498755)	0.659	4
UniProt:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	0.556	3
UniProt:Q07869 PPARA	2	monoSUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099) PPARA [nucleoplasm] (R-HSA-400186)	0.556	3
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.556	3
UniProt:Q06547-2 GABPB1	1	NRF2 beta-2 subunit [nucleoplasm] (R-HSA-1592200)	0.556	3
UniProt:O14641 DVL2	5	pp-DVL2 [cytosol] (R-HSA-3772398) p-DVL2 [cytosol] (R-HSA-201706) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444) DVL2 [cytosol] (R-HSA-201694) ub-DVL2 [cytosol] (R-HSA-4652689)	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:Q99743 NPAS2	2	NPAS2 [cytosol] (R-HSA-400314) p-S-NPAS2 [nucleoplasm] (R-HSA-421309)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [cytosol] (R-HSA-917703) CHMP7 [endosome membrane] (R-HSA-9631168)	0.556	3
UniProt:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	0.556	3
UniProt:Q04206 RELA	7	MeK310-RELA [nucleoplasm] (R-HSA-8865233) p-S536-RELA [nucleoplasm] (R-HSA-9861499) p-S276,5xAcK-RELA [nucleoplasm] (R-HSA-5660642) p-S276-RELA [nucleoplasm] (R-HSA-5624468) polySUMO3-K37,K122,K123-RELA [nucleoplasm] (R-HSA-4755466) RELA [cytosol] (R-HSA-168172) RELA [nucleoplasm] (R-HSA-177676)	0.556	3
UniProt:P38936 CDKN1A	5	p-T145-CDKN1A [cytosol] (R-HSA-198614) p-Y77-CDKN1A [cytosol] (R-HSA-8942601) CDKN1A [cytosol] (R-HSA-182512) CDKN1A [nucleoplasm] (R-HSA-182585) p-S130-CDKN1A [nucleoplasm] (R-HSA-187857)	0.556	3
UniProt:Q96EZ8 MCRS1	1	MCRS1 [nucleoplasm] (R-HSA-3321849)	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:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:Q9Y2Y0 ARL2BP	2	ARL2BP [cytosol] (R-HSA-5215982) ARL2BP [mitochondrial matrix] (R-HSA-5250220)	0.556	3
UniProt:P55318 FOXA3	1	FOXA3 [nucleoplasm] (R-HSA-211484)	0.556	3
UniProt:Q06323 PSME1	1	PSME1 [cytosol] (R-HSA-68812)	0.556	3
UniProt:P19388 POLR2E	2	POLR2E [nucleoplasm] (R-HSA-83713) POLR2E [cytosol] (R-HSA-1964438)	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:Q6N021 TET2	1	TET2 [nucleoplasm] (R-HSA-5221011)	0.556	3
UniProt:P62333 PSMC6	2	PSMC6 [nucleoplasm] (R-HSA-174319) PSMC6 [cytosol] (R-HSA-68783)	0.556	3
UniProt:O43504 LAMTOR5	1	LAMTOR5 [lysosomal membrane] (R-HSA-5655441)	0.556	3
UniProt:Q9UKV8 AGO2	2	AGO2 [nucleoplasm] (R-HSA-5578701) AGO2 [cytosol] (R-HSA-209723)	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:Q8N5V2 NGEF	2	NGEF [cytosol] (R-HSA-3006800) p-Y179-NGEF [cytosol] (R-HSA-3928441)	0.556	3
UniProt:Q7Z7J5 DPPA2	1	DPPA2 [nucleoplasm] (R-HSA-9816401)	0.556	3
UniProt:Q13352 ITGB3BP	2	ITGB3BP [cytosol] (R-HSA-3006405) ITGB3BP [nucleoplasm] (R-HSA-606325)	0.556	3
UniProt:P10809 HSPD1	6	HSPD1 [mitochondrial matrix] (R-HSA-1299448) HSPD1(1-573) [cytosol] (R-HSA-1267989) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963) HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1(1-26) [mitochondrial matrix] (R-HSA-8986171)	0.556	3
UniProt:Q86WV5 TEN1	1	TEN1 [nucleoplasm] (R-HSA-9668823)	0.556	3
UniProt:P62244 RPS15A	2	RPS15A [nucleoplasm] (R-HSA-6791191) RPS15A [cytosol] (R-HSA-72345)	0.556	3
UniProt:Q6IAA8 LAMTOR1	5	LAMTOR1 [specific granule membrane] (R-HSA-6799631) LAMTOR1 [lysosomal membrane] (R-HSA-5653582) LAMTOR1 [azurophil granule membrane] (R-HSA-6799633) LAMTOR1 [plasma membrane] (R-HSA-6806270) LAMTOR1 [ficolin-1-rich granule membrane] (R-HSA-6801003)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	0.556	3
UniProt:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	0.556	3
UniProt:Q9NZH6 IL37	6	IL37(?-218) [nucleoplasm] (R-HSA-9008702) IL37(1-?) [cytosol] (R-HSA-9008602) IL37 [cytosol] (R-HSA-9008596) IL37(?-218) [extracellular region] (R-HSA-9008607) IL37 [extracellular region] (R-HSA-8848334) IL37(?-218) [cytosol] (R-HSA-9008584)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	0.556	3
UniProt:P05412 JUN	4	p-S63,S73-JUN [cytosol] (R-HSA-8868682) JUN [nucleoplasm] (R-HSA-450250) p-S63,S73-JUN [nucleoplasm] (R-HSA-450237) JUN [cytosol] (R-HSA-168194)	0.556	3
UniProt:Q9UJU6 DBNL	7	DBNL [secretory granule lumen] (R-HSA-6801520) DBNL [ficolin-1-rich granule lumen] (R-HSA-6801510) 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)	0.556	3
UniProt:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	0.556	3
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	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:A0AVK6 E2F8	1	E2F8 [nucleoplasm] (R-HSA-8952990)	0.556	3
UniProt:Q9GZQ8 MAP1LC3B	3	MAP1LC3B [autophagosome membrane] (R-HSA-5683641) MAP1LC3B(2-121) [cytosol] (R-HSA-5682674) MAP1LC3B [cytosol] (R-HSA-5205651)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	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:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	0.556	3
UniProt:P01106 MYC	2	PolyUb-MYC [nucleoplasm] (R-HSA-6783169) MYC [nucleoplasm] (R-HSA-188379)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3
UniProt:P22415 USF1	2	USF1 [nucleoplasm] (R-HSA-9023562) pT153 USF1 [nucleoplasm] (R-HSA-9855887)	0.556	3

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