Reactome | FBXW7gamma R387C [nucleoplasm]

FBXW7gamma R387C [nucleoplasm]

Stable Identifier

R-HSA-1602335

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

FBXW7gamma Arg387Cys, FBXW7-4 R387C, FBXW7 isoform 4 R387C

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Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - Signaling by NOTCH1 in Cancer (Homo sapiens)
    - FBXW7 Mutants and NOTCH1 in Cancer (Homo sapiens)
      - Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling (Homo sapiens)
        
        FBXW7 WD mutants do not bind NICD1 (Homo sapiens)
        
        FBXW7 WD mutants:SKP1:CUL1:RBX1 [nucleoplasm] (Homo sapiens)
        
        FBXW7 WD mutants [nucleoplasm] (Homo sapiens)
        
        FBXW7 R505/387C mutant [nucleoplasm] (Homo sapiens)
        
        FBXW7gamma R387C [nucleoplasm] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
17646409	FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to gamma-secretase inhibitors Draetta, G, Rao, S, Sears, R, Strack, P, Tibbitts, D, Hardwick, J, Pieters, R, Look, AT, Welcker, M, Meijerink, JP, Winter, C, Grim, J, O'Neil, J, Clurman, BE	J Exp Med	2007

External Reference Information

External Reference

UniProt:Q969H0-4 FBXW7

Gene Names

FBXW7, FBW7, FBX30, SEL10

Participates

as a candidate of

FBXW7 R505/387C mutant [nucleoplasm] (Homo sapiens)

Other forms of this molecule

FBXW7gamma [nucleoplasm]

FBXW7gamma R387L [nucleoplasm]

FBXW7gamma R347H [nucleoplasm]

FBXW7gamma R361Q [nucleoplasm]

FBXW7gamma R347C [nucleoplasm]

Modified Residues

Name

L-arginine 387 replaced with L-cysteine

Coordinate

387

PsiMod

L-arginine removal [MOD:01632]

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

L-cysteine residue [MOD:00014]

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

Disease

Name	Identifier	Synonyms
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
T-cell acute lymphoblastic leukemia	DOID:5603

Cross References

RefSeq

NP_060785.2, XP_011530387.1, XP_047271857.1, XP_047271856.1, NP_001336727.1, XP_016863851.1, NP_001013433.1, XP_054206373.1, XP_054206370.1, XP_054206368.1, XP_054206367.1, XP_047271853.1, XP_054206371.1, XP_054206372.1, XP_047271855.1, XP_054206369.1, XP_047271854.1, XP_011530385.1, XP_011530386.1, XP_024309891.1, NP_361014.1

COSMIC

COSV55891274, COSM33844

OpenTargets

ENSG00000109670

ENSEMBL

ENST00000603841, ENST00000393956, ENSP00000474971, ENSG00000109670, ENST00000281708, ENSP00000281708, ENSP00000474725, ENST00000603548, ENST00000296555, ENSP00000377528, ENSP00000296555

HPA

ENSG00000109670-FBXW7

GeneCards

FBXW7

PRO

Q969H0

Pharos - Targets

Q969H0

GlyGen

Q969H0

PDB

2OVP, 5V4B, 7T1Y, 2OVR, 2OVQ, 5IBK, 7T1Z

Interactors (21)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q13616 CUL1	3	CUL1 [cytosol] (R-HSA-174230) CUL1 [nucleoplasm] (R-HSA-187551) G76-NEDD8-K720-CUL1 [cytosol] (R-HSA-8952519)	0.919	11
UniProt:P46531 NOTCH1	20	NOTCH1 L1678P S2 cleavage fragment [extracellular region] (R-HSA-2730745) NOTCH1 I1680N S2 cleavage fragment [extracellular region] (R-HSA-2730744) NOTCH1 I1718T S2 cleavage fragment [extracellular region] (R-HSA-2730757) NOTCH1 A1701P S2 cleavage fragment [plasma membrane] (R-HSA-2730742) NOTCH1 V1676D S2 cleavage fragment [extracellular region] (R-HSA-2730755) NOTCH1 I1680N Transmembrane Fragment [plasma membrane] (R-HSA-2684869) NOTCH1 I1718T Transmembrane Fragment [plasma membrane] (R-HSA-2684881) NOTCH1 I1616T Extracellular Fragment [extracellular region] (R-HSA-2684866) NOTCH1 L1596H Extracellular Fragment [extracellular region] (R-HSA-2684853) NOTCH1 L1678P Transmembrane Fragment [plasma membrane] (R-HSA-1485591) NOTCH1 A1701P Transmembrane Fragment [plasma membrane] (R-HSA-1485585) NOTCH1 I1616N Extracellular Fragment [extracellular region] (R-HSA-2684862) NOTCH1 L1593P Extracellular Fragment [extracellular region] (R-HSA-1485584) NOTCH1 R1598P Extracellular Fragment [extracellular region] (R-HSA-1485592) NOTCH1 V1576E Extracellular Fragment [extracellular region] (R-HSA-2684852) NOTCH1 V1676D Transmembrane Fragment [plasma membrane] (R-HSA-2684874) NOTCH1 F1592S Extracellular Fragment [extracellular region] (R-HSA-2684847) NOTCH1 L1574Q Extracellular Fragment [extracellular region] (R-HSA-2691203) p-NICD1 Q2440* [nucleoplasm] (R-HSA-2902207) p-NICD1 Q2395* [nucleoplasm] (R-HSA-2902205)	0.876	11
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	0.867	11
UniProt:P63208 SKP1	2	SKP1 [cytosol] (R-HSA-174150) SKP1 [nucleoplasm] (R-HSA-187538)	0.862	12
UniProt:P24864 CCNE1	3	CCNE1 [cytosol] (R-HSA-157443) CCNE1 [nucleoplasm] (R-HSA-68363) Unfolded CCNE1 [cytosol] (R-HSA-6813836)	0.681	7
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)	0.536	3
UniProt:P04198 MYCN	1	MYCN [nucleoplasm] (R-HSA-452357)	0.536	3
UniProt:Q96BA8 CREB3L1	7	CREB3L1 [Golgi membrane] (R-HSA-8874155) CREB3L1(427-519) [Golgi membrane] (R-HSA-8874139) CREB3L1(1-426) [Golgi membrane] (R-HSA-8874153) CREB3L1 [endoplasmic reticulum membrane] (R-HSA-8874157) CREB3L1(1-375) [cytosol] (R-HSA-8874215) CREB3L1(376-426) [Golgi membrane] (R-HSA-8874213) CREB3L1(1-375) [nucleoplasm] (R-HSA-8874222)	0.527	2
UniProt:Q01201 RELB	2	RELB [nucleoplasm] (R-HSA-5607656) RELB [cytosol] (R-HSA-5607652)	0.527	2
UniProt:Q9Y266 NUDC	4	NUDC [cytosol] (R-HSA-377731) NUDC [nucleoplasm] (R-HSA-156716) p-S274,S326-NUDC [cytosol] (R-HSA-156702) p-S274,S326-NUDC [spindle] (R-HSA-9648125)	0.527	2
UniProt:Q00597 FANCC	2	FANCC [nucleoplasm] (R-HSA-419530) FANCC [cytosol] (R-HSA-420801)	0.519	5
UniProt:P31749 AKT1	14	p-T308,S473-AKT1 [nucleoplasm] (R-HSA-198357) p-T308,S473-AKT1 [cytosol] (R-HSA-198356) p-S473-AKT1 [plasma membrane] (R-HSA-377265) AKT1 [plasma membrane] (R-HSA-199416) AKT1 [cytosol] (R-HSA-58252) p-T308-AKT1 [cytosol] (R-HSA-198634) p-Y315,Y326-AKT1 [cytosol] (R-HSA-8848757) p-T308,S473-AKT1 [plasma membrane] (R-HSA-199430) p-S473-AKT1 [cytosol] (R-HSA-9841264) AKT1 E17K [plasma membrane] (R-HSA-1500573) p-S473-AKT1 E17K [plasma membrane] (R-HSA-2243944) AKT1 E17K [cytosol] (R-HSA-2219526) p-T308,S473-AKT1 E17K [cytosol] (R-HSA-2243935) p-T308,S473-AKT1 E17K [nucleoplasm] (R-HSA-2399994)	0.519	5
UniProt:O15550 KDM6A	1	KDM6A [nucleoplasm] (R-HSA-4754224)	0.483	2
UniProt:P04637 TP53	20	Unfolded TP53 [cytosol] (R-HSA-6813797) TP53 [cytosol] (R-HSA-8869337) PolyUb-TP53 [nucleoplasm] (R-HSA-6782509) polySUMO2,3-K386-TP53 [nucleoplasm] (R-HSA-2997661) TP53 F341C [nucleoplasm] (R-HSA-9726318) TP53 G334V [nucleoplasm] (R-HSA-9726126) TP53 L330H [nucleoplasm] (R-HSA-9726124) TP53 A347T [nucleoplasm] (R-HSA-9726339) TP53 R337C [nucleoplasm] (R-HSA-9726118) TP53 L344P [nucleoplasm] (R-HSA-9726075) TP53 L344R [nucleoplasm] (R-HSA-9726073) TP53 R337H [nucleoplasm] (R-HSA-9726169) TP53 R337P [nucleoplasm] (R-HSA-9726168) TP53 L330P [nucleoplasm] (R-HSA-9726136) TP53 L348S [nucleoplasm] (R-HSA-9726366) TP53 R337L [nucleoplasm] (R-HSA-9726163) TP53 K351E [nucleoplasm] (R-HSA-9726258) TP53 F338I [nucleoplasm] (R-HSA-9726358) TP53 R342P [nucleoplasm] (R-HSA-9726101) TP53 L330R [nucleoplasm] (R-HSA-9726133)	0.483	5
UniProt:P48436 SOX9	1	SOX9 [nucleoplasm] (R-HSA-3214954)	0.483	5
UniProt:Q00534 CDK6	3	p-T177-CDK6 [nucleoplasm] (R-HSA-69628) CDK6 [nucleoplasm] (R-HSA-141283) CDK6 [cytosol] (R-HSA-68336)	0.471	2
UniProt:Q16539 MAPK14	7	p-T180,Y182-MAPK14 [nucleoplasm] (R-HSA-446227) p-T180,Y182-MAPK14 [cytosol] (R-HSA-428935) MAPK14 [cytosol] (R-HSA-428933) MAPK14 [nucleoplasm] (R-HSA-446223) MAPK14 [ficolin-1-rich granule lumen] (R-HSA-6803280) MAPK14 [extracellular region] (R-HSA-6806453) MAPK14 [secretory granule lumen] (R-HSA-6803300)	0.471	5
UniProt:P11802 CDK4	3	p-T172-CDK4 [nucleoplasm] (R-HSA-113830) CDK4 [nucleoplasm] (R-HSA-113843) CDK4 [cytosol] (R-HSA-68330)	0.471	3
UniProt:P46527 CDKN1B	8	p-Y88-CDKN1B [nucleoplasm] (R-HSA-8942808) CDKN1B [nucleoplasm] (R-HSA-182563) p-Y88-CDKN1B [cytosol] (R-HSA-8848438) CDKN1B [cytosol] (R-HSA-198622) p-T187-CDKN1B [nucleoplasm] (R-HSA-187525) p-T157-CDKN1B [cytosol] (R-HSA-198629) p-S10 CDKN1B [nucleoplasm] (R-HSA-9632832) p-S10 CDKN1B [cytosol] (R-HSA-9632829)	0.471	5
UniProt:P24385 CCND1	4	CCND1 [nucleoplasm] (R-HSA-113832) CCND1 [cytosol] (R-HSA-68328) p-T286-CCND1 [nucleoplasm] (R-HSA-75811) p-T286-CCND1 [cytosol] (R-HSA-75813)	0.471	5
UniProt:P52333 JAK3	6	JAK3 [cytosol] (R-HSA-451893) p-Y-JAK3 [cytosol] (R-HSA-9006854) p-JAK3 [cytosol] (R-HSA-8982856) JAK3 [endosome] (R-HSA-8983184) p-Y904,939-JAK3 [plasma membrane] (R-HSA-8985978) p-Y980 JAK3 [cytosol] (R-HSA-9701438)	0.471	5

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