Reactome | FGFR3c P250R [plasma membrane]

FGFR3c P250R [plasma membrane]

Stable Identifier

R-HSA-2011857

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

FGFR3-1 P250R, FGFR3 isoform 1 P250R

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General

Muenke Syndrome

Literature References

PubMed ID	Title	Journal	Year
14613973	Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity Ibrahimi, OA, Zhang, F, Eliseenkova, AV, Linhardt, RJ, Mohammadi, M	Hum Mol Genet	2004

External Reference Information

External Reference

UniProt:P22607-1 FGFR3

Gene Names

FGFR3, JTK4

Participates

as an input of

FGFR3c P250R mutant binds to ligand with enhanced affinity (Homo sapiens)

as a component of

FGFR3c P250R mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

p6Y-FGFR3c P250R [plasma membrane]

FGFR3c [plasma membrane]

p-6Y-FGFR3c [plasma membrane]

Modified Residues

Name

L-proline 250 replaced with L-arginine

Coordinate

250

PsiMod

L-proline removal [MOD:01645]

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

L-arginine residue [MOD:00011]

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

Disease

Name	Identifier	Synonyms
craniosynostosis	DOID:2340	Premature closure of cranial sutures
bone development disease	DOID:0080006
acrocephalosyndactylia	DOID:12960	Apert syndrome

Cross References

Mondo

0015469, 0019796, 0005497

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:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	0.556	3
UniProt:P62333 PSMC6	2	PSMC6 [cytosol] (R-HSA-68783) PSMC6 [nucleoplasm] (R-HSA-174319)	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:Q9NZH6 IL37	6	IL37(?-218) [extracellular region] (R-HSA-9008607) IL37 [extracellular region] (R-HSA-8848334) IL37 [cytosol] (R-HSA-9008596) IL37(?-218) [cytosol] (R-HSA-9008584) IL37(1-?) [cytosol] (R-HSA-9008602) IL37(?-218) [nucleoplasm] (R-HSA-9008702)	0.556	3
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	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(1-26) [mitochondrial matrix] (R-HSA-8986171) HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963) HSPD1(1-573) [cytosol] (R-HSA-1267989) HSPD1 [mitochondrial matrix] (R-HSA-1299448)	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:Q86WV5 TEN1	1	TEN1 [nucleoplasm] (R-HSA-9668823)	0.556	3
UniProt:O43504 LAMTOR5	1	LAMTOR5 [lysosomal membrane] (R-HSA-5655441)	0.556	3
UniProt:Q6N021 TET2	1	TET2 [nucleoplasm] (R-HSA-5221011)	0.556	3
UniProt:Q7Z7J5 DPPA2	1	DPPA2 [nucleoplasm] (R-HSA-9816401)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [cytosol] (R-HSA-917703) CHMP7 [endosome membrane] (R-HSA-9631168)	0.556	3
UniProt:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	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:Q6NXG1 ESRP1	3	ESRP1 [nucleoplasm] (R-HSA-6803472) ESRP1(1-606)-RAF1(227-648) fusion [cytosol] (R-HSA-6802312) ESRP1(1-606)-p-RAF1(227-648) fusion [cytosol] (R-HSA-6802523)	0.556	3
UniProt:P19388 POLR2E	2	POLR2E [cytosol] (R-HSA-1964438) POLR2E [nucleoplasm] (R-HSA-83713)	0.556	3
UniProt:P14618 PKM	4	PKM [ficolin-1-rich granule lumen] (R-HSA-6801387) PKM [extracellular region] (R-HSA-6806491) PKM [secretory granule lumen] (R-HSA-6801401) PKM [nucleoplasm] (R-HSA-9931500)	0.556	3
UniProt:Q9H147 DNTTIP1	1	DNTTIP1 [nucleoplasm] (R-HSA-9815865)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:Q8N5V2 NGEF	2	NGEF [cytosol] (R-HSA-3006800) p-Y179-NGEF [cytosol] (R-HSA-3928441)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	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:Q06323 PSME1	1	PSME1 [cytosol] (R-HSA-68812)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	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:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	0.556	3
UniProt:Q04206 RELA	7	RELA [nucleoplasm] (R-HSA-177676) RELA [cytosol] (R-HSA-168172) polySUMO3-K37,K122,K123-RELA [nucleoplasm] (R-HSA-4755466) p-S276-RELA [nucleoplasm] (R-HSA-5624468) p-S276,5xAcK-RELA [nucleoplasm] (R-HSA-5660642) p-S536-RELA [nucleoplasm] (R-HSA-9861499) MeK310-RELA [nucleoplasm] (R-HSA-8865233)	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:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	0.556	3
UniProt:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	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: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: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:Q99743 NPAS2	2	NPAS2 [cytosol] (R-HSA-400314) p-NPAS2 [nucleoplasm] (R-HSA-421309)	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:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	0.556	3
UniProt:Q12824 SMARCB1	1	SMARCB1 [nucleoplasm] (R-HSA-389261)	0.556	3
UniProt:Q96EZ8 MCRS1	1	MCRS1 [nucleoplasm] (R-HSA-3321849)	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: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:P22415 USF1	2	USF1 [nucleoplasm] (R-HSA-9023562) pT153 USF1 [nucleoplasm] (R-HSA-9855887)	0.556	3
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.556	3
UniProt:P62244 RPS15A	2	RPS15A [cytosol] (R-HSA-72345) RPS15A [nucleoplasm] (R-HSA-6791191)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	0.556	3
UniProt:Q9UKV8 AGO2	2	AGO2 [cytosol] (R-HSA-209723) AGO2 [nucleoplasm] (R-HSA-5578701)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3
UniProt:Q07869 PPARA	2	PPARA [nucleoplasm] (R-HSA-400186) monoSUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099)	0.556	3
UniProt:Q8N3R9 PALS1	2	MPP5 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9689606) MPP5 [plasma membrane] (R-HSA-419969)	0.556	3

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