Reactome | FGFR1c P252R [plasma membrane]

FGFR1c P252R [plasma membrane]

Stable Identifier

R-HSA-2011838

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

FGFR1-1 P252R

Locations in the PathwayBrowser

Expand all

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
7874169	A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome Muenke, M, Schell, U, Hehr, A, Robin, NH, Losken, HW, Schinzel, A, Pulleyn, LJ, Rutland, P, Reardon, W, Malcolm, S	Nat Genet	1994

External Reference Information

External Reference

UniProt:P11362-1 FGFR1

Gene Names

FGFR1, BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR

Participates

as a member of

FGFR1c P252X mutants [plasma membrane] (Homo sapiens)

as a component of

FGFR1c P252R mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

p-8Y-FGFR1c [plasma membrane]

FGFR1c [plasma membrane]

p-8Y-FGFR1c P252R [plasma membrane]

p-8Y-FGFR1c P252T [plasma membrane]

p-8Y-FGFR1c P252S [plasma membrane]

FGFR1c P252T [plasma membrane]

FGFR1c P252S [plasma membrane]

Modified Residues

Name

L-proline 252 replaced with L-arginine

Coordinate

252

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
bone development disease	DOID:0080006
Pfeiffer syndrome	DOID:14705	acrocephalosyndactylia type V

Cross References

RefSeq

NP_001167537.1, NP_001167538.1, NP_075598.2, NP_075594.1, NP_056934.2, NP_075593.1, NP_001167534.1, NP_001167536.1, NP_001167535.1

ZINC - World Drugs

FGFR1_HUMAN

Guide to Pharmacology - Targets

1808

ENSEMBL

ENSP00000380302, ENSP00000433163, ENSP00000380297, ENSP00000337247, ENST00000397113, ENST00000356207, ENST00000484370, ENST00000532791, ENST00000397108, ENSP00000348537, ENSP00000327229, ENSP00000432972, ENST00000335922, ENSP00000400162, ENST00000447712, ENST00000397091, ENSP00000380280, ENST00000326324, ENSG00000077782

OpenTargets

ENSG00000077782

Mondo

0005497

ZINC - FDA approved

FGFR1_HUMAN

ZINC - Substances

FGFR1_HUMAN

ZINC - Biogenic

FGFR1_HUMAN

ZINC target

P11362

PRO

P11362

PDB

2FGI, 3RHX, 3KRJ, 7YSH, 7OZD, 7OZB, 6MZQ, 8JQI, 3DPK, 5UR1, 8Y22, 5W21, 5A46, 5AM6, 4UWC, 8YKI, 4NKS, 7OZF, 6C18, 6ITJ, 5AM7, 5UQ0, 6C1B, 3GQL, 9CD5, 3TT0, 1XR0, 1EVT, 4RWI, 5FLF, 3KXX, 3KY2, 4RWK, 4ZSA, 5B7V, 3JS2, 3OJV, 5O4A, 4F65, 2CR3, 1AGW, 6MZW, 5ZV2, 1FGI, 8XLO, 4F63, 5Z0S, 5A4C, 4V01, 3KRL, 1FGK, 4UWB, 3C4F, 4V04, 5O49, 8JMZ, 6C19, 3GQI, 8XZ7, 4V05, 5VND, 6C1C, 6NVL, 6P69, 6P68, 1FQ9, 4NK9, 5EW8, 1CVS, 4NKA, 5W59, 7WCL, 4RWJ, 4WUN, 4RWL, 4UWY, 7TNH, 6C1O, 4F64

ZINC - Investigational

FGFR1_HUMAN

IntEnz

2.7.10.1

GeneCards

FGFR1

HPA

ENSG00000077782-FGFR1

Pharos - Targets

P11362

Orphanet

FGFR1

ZINC - Predictions - Purchasable

FGFR1_HUMAN

HMDB Protein

HMDBP01450

Interactors (25)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P09038 FGF2	1	FGF2(143-288) [extracellular region] (R-HSA-189898)	0.912	9
UniProt:P19174 PLCG1	6	p-4Y-PLCG1 [plasma membrane] (R-HSA-167679) PLCG1 [cytosol] (R-HSA-202320) PLCG1 [plasma membrane] (R-HSA-167682) p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-HSA-202357) p-Y771,Y783-PLCG1 [plasma membrane] (R-HSA-1169084) p-Y-PLCG1 [cytosol] (R-HSA-9029082)	0.903	11
UniProt:P05230 FGF1	1	FGF1 [extracellular region] (R-HSA-189856)	0.838	5
UniProt:P46934 NEDD4	1	NEDD4 [cytosol] (R-HSA-975992)	0.672	26
UniProt:P51812 RPS6KA3	7	p-S227,T365,S369,S386,T577,T737-RPS6KA3 [nucleoplasm] (R-HSA-444286) p-T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619989) p-S227,T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619872) p-T365,S369,T577-RPS6KA3 [cytosol] (R-HSA-9619959) RPS6KA3 [cytosol] (R-HSA-444250) p-4S,T231,T365-RPS6KA3 [nucleoplasm] (R-HSA-199830) RPS6KA3 [nucleoplasm] (R-HSA-199869)	0.671	4
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)	0.669	3
UniProt:P27986 PIK3R1	16	PIK3R1 [plasma membrane] (R-HSA-198365) PIK3R1 [cytosol] (R-HSA-74789) K63polyUb-PIK3R1 [cytosol] (R-HSA-3080572) PIK3R1 R574T [plasma membrane] (R-HSA-2399540) PIK3R1 R574I [plasma membrane] (R-HSA-2399536) PIK3R1 D560H [plasma membrane] (R-HSA-2399432) PIK3R1 N564K [plasma membrane] (R-HSA-2399431) PIK3R1 K459del [plasma membrane] (R-HSA-2399554) PIK3R1 N564D [plasma membrane] (R-HSA-2399427) PIK3R1 D560Y [plasma membrane] (R-HSA-2399421) PIK3R1 R574_T576del [plasma membrane] (R-HSA-2399544) PIK3R1 H450_E451del [plasma membrane] (R-HSA-2399545) PIK3R1 Y463_L466del [plasma membrane] (R-HSA-2399546) PIK3R1 K379E [plasma membrane] (R-HSA-8944148) PIK3R1 G376R [plasma membrane] (R-HSA-2399717) p-Y-PIK3R1 [cytosol] (R-HSA-9680647)	0.644	6
UniProt:Q8IVI9 NOSTRIN	2	NOSTRIN [endocytic vesicle membrane] (R-HSA-535014) NOSTRIN [plasma membrane] (R-HSA-202134)	0.633	5
UniProt:P23352 ANOS1	1	KAL1 [extracellular region] (R-HSA-5654345)	0.626	7
UniProt:P35222 CTNNB1	20	CTNNB1 S45A [cytosol] (R-HSA-9663982) CTNNB1 S45F [cytosol] (R-HSA-4791268) CTNNB1 S45C [cytosol] (R-HSA-9663983) CTNNB1 S45Y [cytosol] (R-HSA-9663975) CTNNB1 S45N [cytosol] (R-HSA-9663984) CTNNB1 S45P [cytosol] (R-HSA-4791272) pT41,S45-CTNNB1 S37P [cytosol] (R-HSA-9663981) pT41,S45-CTNNB1 S37F [cytosol] (R-HSA-4839621) CTNNB1 [nucleoplasm] (R-HSA-3451168) CTNNB1 [cytosol] (R-HSA-448839) CTNNB1(1-115) [cytosol] (R-HSA-202930) CTNNB1(116-376) [cytosol] (R-HSA-202950) p-S33,S37,T41,S45 CTNNB1 [cytosol] (R-HSA-8942374) p-S37,T41,S45, CTNNB1 [cytosol] (R-HSA-8942369) p-T41,S45 CTNNB1 [cytosol] (R-HSA-8942367) p-S45 CTNNB1 [cytosol] (R-HSA-8942363) CTNNB1 [plasma membrane] (R-HSA-9038440) p-Y-CTNNB1 [cytosol] (R-HSA-8876940) p-S552-CTNNB1 [cytosol] (R-HSA-3134933) p-S552-CTNNB1 [nucleoplasm] (R-HSA-3134926)	0.623	3
UniProt:P11362 FGFR1	9	FGFR1 [plasma membrane] (R-HSA-9756433) p-8Y- FGFR1 R576W [plasma membrane] (R-HSA-2023361) p-8Y-FGFR1 N546K [plasma membrane] (R-HSA-2023358) p-8Y-FGFR1 K656E [plasma membrane] (R-HSA-2023356) p-6Y-FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853142) FGFR1 R576W [plasma membrane] (R-HSA-2011844) FGFR1 N546K [plasma membrane] (R-HSA-1614377) FGFR1 K656E [plasma membrane] (R-HSA-1614373) FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853241)	0.623	4
UniProt:P21802 FGFR2	20	FGFR2 IIIa TM [extracellular region] (R-HSA-8851703) FGFR2 [plasma membrane] (R-HSA-2023840) FGFR2(22-767)-CCDC6(102-474) fusion [plasma membrane] (R-HSA-8853137) FGFR2(2-822)-CIT(927-2027) fusion [plasma membrane] (R-HSA-8853154) FGFR2(22-768)-BICC1(80-974) fusion [plasma membrane] (R-HSA-8853123) FGFR2(22-767)-AHCYL1(108-530) fusion [plasma membrane] (R-HSA-8853158) FGFR2(22-767)-OFD1(38-1012) fusion [plasma membrane] (R-HSA-8853150) FGFR2(22-767)-CASP7(1-303) fusion [plasma membrane] (R-HSA-8853153) FGFR2(22-767)-AFF3(292-1226) fusion [plasma membrane] (R-HSA-8853139) FGFR2(22-767)-CCAR(51-923) fusion [plasma membrane] (R-HSA-8853159) FGFR2 N549H [plasma membrane] (R-HSA-2033296) FGFR2 N549K [plasma membrane] (R-HSA-1637910) FGFR2 K660N [plasma membrane] (R-HSA-1637905) p-8Y-FGFR2 K660M [plasma membrane] (R-HSA-2033300) p-8Y-FGFR2 K660E [plasma membrane] (R-HSA-2033298) phosphorylated FGFR2 L764Hfs*4 [plasma membrane] (R-HSA-2071957) p-8Y-FGFR2 W290C [plasma membrane] (R-HSA-2029875) p-8Y-FGFR2 S267P [plasma membrane] (R-HSA-2029879) p-8Y-FGFR2 [plasma membrane] (R-HSA-2029874) p-8Y-FGFR2 N549K [plasma membrane] (R-HSA-2033306)	0.623	3
UniProt:P08908 HTR1A	1	HTR1A [plasma membrane] (R-HSA-390971)	0.62	9
UniProt:P10686 Plcg1	8	p-4Y-Plcg1 [plasma membrane] (R-RNO-9034825) phospho-p-Y771,Y783-PLCG1 [plasma membrane] (R-RNO-1169084) phospho-p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-RNO-202357) p-Plcg1 [plasma membrane] (R-RNO-182042) Plcg1 [plasma membrane] (R-RNO-182093) PLCG1 [plasma membrane] (R-RNO-167682) PLCG1 [cytosol] (R-RNO-202320) phospho-p-4Y-PLCG1 [plasma membrane] (R-RNO-167679)	0.611	4
UniProt:Q16543 CDC37	1	CDC37 [cytosol] (R-HSA-1221609)	0.569	4
UniProt:Q9NQH7 XPP3			0.569	3
UniProt:Q8WU20 FRS2	6	p-6Y-FRS2 [plasma membrane] (R-HSA-170959) FRS2 [plasma membrane] (R-HSA-170963) p-8T-FRS2 [plasma membrane] (R-HSA-1270462) p-6Y-FRS2 [cytosol] (R-HSA-190355) FRS2 [cytosol] (R-HSA-190244) p-Y-FRS2 [cytosol] (R-HSA-162551)	0.569	3
UniProt:O35082	2	Kl [plasma membrane] (R-MMU-190198) Kl [extracellular region] (R-MMU-190201)	0.558	2
UniProt:Q9GZV9 FGF23	6	p-FGF23 [endoplasmic reticulum lumen] (R-HSA-8957077) FGF23 [endoplasmic reticulum lumen] (R-HSA-8956697) FGF23(25-251) [Golgi lumen] (R-HSA-8851630) GalNAc-T178-FGF23(25-251) [Golgi lumen] (R-HSA-8851624) FGF23(25-251) [extracellular region] (R-HSA-189891) GalNAc-T178-FGF23(25-251) [extracellular region] (R-HSA-8851633)	0.544	2
UniProt:P22455 FGFR4	12	p-5Y-FGFR4 [plasma membrane] (R-HSA-190330) FGFR4 [plasma membrane] (R-HSA-189921) p5Y-FGFR4 Y367C mutant [plasma membrane] (R-HSA-2011873) p-5Y-FGFR4 N535D [plasma membrane] (R-HSA-2038934) p-5Y-FGFR4 V550L [plasma membrane] (R-HSA-2038935) p-5Y-FGFR4 N535K [plasma membrane] (R-HSA-2038931) p-5Y-FGFR4 V550E [plasma membrane] (R-HSA-2038932) FGFR4 N535D [plasma membrane] (R-HSA-1614427) FGFR4 V550L [plasma membrane] (R-HSA-1614436) FGFR4 V550E [plasma membrane] (R-HSA-1614433) FGFR4 N535K [plasma membrane] (R-HSA-1614430) FGFR4 Y367C [plasma membrane] (R-HSA-1614439)	0.539	3
UniProt:P12830 CDH1	20	CDH1(732-882) [plasma membrane] (R-HSA-3827997) CDH1(155-700) [plasma membrane] (R-HSA-2534244) CDH1(701-882) [extracellular region] (R-HSA-2534158) Ub-K,p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8877002) p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8876938) PolyUbK48-CDH1 [plasma membrane] (R-HSA-9934660) PolyUbK48-CDH1 [early endosome membrane] (R-HSA-9934659) PolyUb-K740,K818-CDH1 [plasma membrane] (R-HSA-9935242) PolyUb-K740,K818-CDH1 [early endosome membrane] (R-HSA-9935416) PolyUb-K740,K818-CDH1 [lysosomal membrane] (R-HSA-9935544) Man,Man9GlucNAc2,p-3S,2Y-CDH1 [plasma membrane] (R-HSA-9934836) CDH1(155-882) [plasma membrane] (R-HSA-198003) CDH1(751-882) [plasma membrane] (R-HSA-202929) CDH1(155-750) [plasma membrane] (R-HSA-202940) Man9GlcNAc2-CDH1(23-882) [endoplasmic reticulum membrane] (R-HSA-9932354) Man,Man9GlucNAc2-CDH1(23-882) [endoplasmic reticulum membrane] (R-HSA-9933097) Glu1Man9GlcNAc2-CDH1(23-882) [endoplasmic reticulum membrane] (R-HSA-9932915) Glu2Man9GlcNAc2-CDH1(23-882) [endoplasmic reticulum membrane] (R-HSA-9932341) Glu3Man9GlcNAc2-CDH1(23-882) [endoplasmic reticulum membrane] (R-HSA-9932178) CDH1(23-882) [endoplasmic reticulum membrane] (R-HSA-9932157)	0.536	3
UniProt:Q7KZF4 SND1	2	SND1(1-593)-BRAF(381-766) fusion [cytosol] (R-HSA-6802469) SND1(1-593)-p-BRAF(381-766) fusion [cytosol] (R-HSA-6802552)	0.483	2
UniProt:P06493 CDK1	11	p-T161-CDK1 [nucleoplasm] (R-HSA-170066) p-T14,Y15,T161-CDK1 [nucleoplasm] (R-HSA-170074) p-T161-CDK1 [cytosol] (R-HSA-157415) p-T14,Y15,T161-CDK1 [cytosol] (R-HSA-170071) CDK1 [cytosol] (R-HSA-170075) CDK1 [nucleoplasm] (R-HSA-68889) p-T14-CDK1 [cytosol] (R-HSA-170064) p-T14-CDK1 [nucleoplasm] (R-HSA-170045) p-T14,T161-CDK1 [nucleoplasm] (R-HSA-170078) p-Y4-CDK1 [cytosol] (R-HSA-9836187) CDK1 [endoplasmic reticulum membrane] (R-HSA-264424)	0.483	3
UniProt:P46108 CRK	1	CRK [cytosol] (R-HSA-2980677)	0.483	2
UniProt:O88900	1	Grb14 [cytosol] (R-RNO-204771)	0.471	3

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