Reactome | FGFR3 805fs*141 [plasma membrane]

FGFR3 805fs*141 [plasma membrane]

Stable Identifier

R-HSA-1614387

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Literature References

PubMed ID	Title	Journal	Year
7647778	Stop codon FGFR3 mutations in thanatophoric dwarfism type 1 Bonaventure, J, Munnich, A, Narcy, F, Rousseau, F, Sanak, M, Saugier, P, Le Merrer, M, Delezoide, AL, Maroteaux, P	Nat Genet	1995
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

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 (4;14) translocation mutants [plasma membrane] (Homo sapiens)

as a component of

FGFR3 795fs*139STOP 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 A391E [plasma membrane]

FGFR3 K650E [plasma membrane]

FGFR3 G380R [plasma membrane]

FGFR3 G382D [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

Replacement of residues 806 to 806 by TRATGPQQCEGSLAAHPAAGAQPLPGMRLSADGETATQSFGLCVCVCVCVCVCTSACACVRAHLASRCRGTLGVPAAVQRSPDWCCSTEGPLGWGDPVQNVSGPTRWDPRGAGSWARHGSGLCLCTTGHHRVGLGPSHTQS

Disease

Name	Identifier	Synonyms
multiple myeloma	DOID:9538
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
bone development disease	DOID:0080006
thanatophoric dysplasia	DOID:13481

Cross References

RefSeq

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

ZINC - World Drugs

FGFR3_HUMAN

Guide to Pharmacology - Targets

1810

OpenTargets

ENSG00000068078

ENSEMBL

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

ZINC - FDA approved

FGFR3_HUMAN

ZINC - Substances

FGFR3_HUMAN

ZINC - Biogenic

FGFR3_HUMAN

ZINC target

P22607

PRO

P22607

GlyGen

P22607

PDB

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

ZINC - Investigational

FGFR3_HUMAN

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 [ficolin-1-rich granule lumen] (R-HSA-6801491) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [secretory granule lumen] (R-HSA-6801477)	0.667	4
UniProt:O95674 CDS2	1	CDS2 [mitochondrial inner membrane] (R-HSA-1498755)	0.659	4
UniProt:Q06547-2 GABPB1	1	NRF2 beta-2 subunit [nucleoplasm] (R-HSA-1592200)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	0.556	3
UniProt:A0AVK6 E2F8	1	E2F8 [nucleoplasm] (R-HSA-8952990)	0.556	3
UniProt:P62333 PSMC6	2	PSMC6 [cytosol] (R-HSA-68783) PSMC6 [nucleoplasm] (R-HSA-174319)	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:Q12824 SMARCB1	1	SMARCB1 [nucleoplasm] (R-HSA-389261)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	0.556	3
UniProt:O14641 DVL2	5	DVL2 [cytosol] (R-HSA-201694) ub-DVL2 [cytosol] (R-HSA-4652689) pp-DVL2 [cytosol] (R-HSA-3772398) p-DVL2 [cytosol] (R-HSA-201706) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444)	0.556	3
UniProt:Q99743 NPAS2	2	NPAS2 [cytosol] (R-HSA-400314) p-NPAS2 [nucleoplasm] (R-HSA-421309)	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:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	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:Q07869 PPARA	2	PPARA [nucleoplasm] (R-HSA-400186) monoSUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099)	0.556	3
UniProt:P55318 FOXA3	1	FOXA3 [nucleoplasm] (R-HSA-211484)	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:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	0.556	3
UniProt:Q6N021 TET2	1	TET2 [nucleoplasm] (R-HSA-5221011)	0.556	3
UniProt:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	0.556	3
UniProt:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	0.556	3
UniProt:P22415 USF1	2	USF1 [nucleoplasm] (R-HSA-9023562) pT153 USF1 [nucleoplasm] (R-HSA-9855887)	0.556	3
UniProt:P14618 PKM	4	PKM [nucleoplasm] (R-HSA-9931500) PKM [ficolin-1-rich granule lumen] (R-HSA-6801387) PKM [extracellular region] (R-HSA-6806491) PKM [secretory granule lumen] (R-HSA-6801401)	0.556	3
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	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:Q96EZ8 MCRS1	1	MCRS1 [nucleoplasm] (R-HSA-3321849)	0.556	3
UniProt:P22692 IGFBP4	5	IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8956754) p-IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8957038) IGFBP4 [extracellular region] (R-HSA-381421) IGFBP4(157-237) [extracellular region] (R-HSA-381510) IGFBP4(22-156) [extracellular region] (R-HSA-381516)	0.556	3
UniProt:Q13352 ITGB3BP	2	ITGB3BP [cytosol] (R-HSA-3006405) ITGB3BP [nucleoplasm] (R-HSA-606325)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:Q9UKV8 AGO2	2	AGO2 [cytosol] (R-HSA-209723) AGO2 [nucleoplasm] (R-HSA-5578701)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	0.556	3
UniProt:Q7Z7J5 DPPA2	1	DPPA2 [nucleoplasm] (R-HSA-9816401)	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:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.556	3
UniProt:Q9Y2Y0 ARL2BP	2	ARL2BP [cytosol] (R-HSA-5215982) ARL2BP [mitochondrial matrix] (R-HSA-5250220)	0.556	3
UniProt:Q8N3R9 MPP5	2	MPP5 [plasma membrane] (R-HSA-419969) MPP5 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9689606)	0.556	3
UniProt:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [cytosol] (R-HSA-917703) CHMP7 [endosome membrane] (R-HSA-9631168)	0.556	3
UniProt:Q6IAA8 LAMTOR1	5	LAMTOR1 [lysosomal membrane] (R-HSA-5653582) LAMTOR1 [specific granule membrane] (R-HSA-6799631) LAMTOR1 [plasma membrane] (R-HSA-6806270) LAMTOR1 [azurophil granule membrane] (R-HSA-6799633) LAMTOR1 [ficolin-1-rich granule membrane] (R-HSA-6801003)	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:Q6NXG1 ESRP1	3	ESRP1(1-606)-p-RAF1(227-648) fusion [cytosol] (R-HSA-6802523) ESRP1(1-606)-RAF1(227-648) fusion [cytosol] (R-HSA-6802312) ESRP1 [nucleoplasm] (R-HSA-6803472)	0.556	3
UniProt:Q06323 PSME1	1	PSME1 [cytosol] (R-HSA-68812)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	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:O43504 LAMTOR5	1	LAMTOR5 [lysosomal membrane] (R-HSA-5655441)	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:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	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:Q9H147 DNTTIP1	1	DNTTIP1 [nucleoplasm] (R-HSA-9815865)	0.556	3
UniProt:Q8N5V2 NGEF	2	p-Y179-NGEF [cytosol] (R-HSA-3928441) NGEF [cytosol] (R-HSA-3006800)	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:Q9UJU6 DBNL	7	DBNL [cytosol] (R-HSA-202880) DBNL(362-431) [cytosol] (R-HSA-202933) DBNL(1-361) [cytosol] (R-HSA-202925) DBNL [ficolin-1-rich granule lumen] (R-HSA-6801510) DBNL [extracellular region] (R-HSA-6801604) DBNL [secretory granule lumen] (R-HSA-6801520) DBNL [tertiary granule lumen] (R-HSA-6801516)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	0.556	3

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