Reactome | FBXW7alpha R465H [nucleoplasm]

FBXW7alpha R465H [nucleoplasm]

Stable Identifier

R-HSA-1602330

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

FBXW7alpha Arg465His, FBXW7-1 R465H

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Locations in the PathwayBrowser

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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 R465/347H mutant [nucleoplasm] (Homo sapiens)
        
        FBXW7alpha R465H [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:Q969H0-1 FBXW7

Gene Names

FBXW7, FBW7, FBX30, SEL10

Other Identifiers

11725751_a_at

11725752_x_at

11748766_a_at

16980693

218751_PM_s_at

218751_s_at

222729_PM_at

222729_at

229419_PM_at

229419_at

239494_PM_at

239494_at

2789959

2789960

2789961

2789962

2789963

2789964

2789965

2789966

2789967

2789968

2789969

2789970

2789971

2789974

2789975

2789976

2789977

2789978

2789979

2789981

2789987

2789988

2789990

2789991

2789992

2789993

2789999

2790000

2790001

2790005

2790006

2790007

2790008

2790009

2790010

2790011

2790012

2790013

2790043

2790044

2790046

2790047

2790048

2790049

2790050

2790051

48937_at

55294

61691_at

70779_at

74386_at

8103206

A_23_P81153

A_24_P174613

GE55961

GO:0001570

GO:0001944

GO:0005515

GO:0005634

GO:0005654

GO:0005694

GO:0005730

GO:0005737

GO:0005739

GO:0005783

GO:0005794

GO:0005829

GO:0006281

GO:0006974

GO:0007062

GO:0007219

GO:0010629

GO:0010868

GO:0010883

GO:0010992

GO:0016020

GO:0016567

GO:0019005

GO:0030154

GO:0030163

GO:0030324

GO:0030332

GO:0030674

GO:0031146

GO:0031398

GO:0031625

GO:0031648

GO:0032880

GO:0032991

GO:0034644

GO:0042752

GO:0042802

GO:0043130

GO:0043161

GO:0043226

GO:0045741

GO:0045746

GO:0048471

GO:0048511

GO:0048856

GO:0050816

GO:0050821

GO:0051443

GO:0055088

GO:0060090

GO:0070374

GO:0090049

GO:0097027

GO:0098772

GO:1901524

GO:1901800

GO:1902806

GO:1903378

GO:1903955

GO:1990452

GO:1990756

GO:2000060

GO:2000346

GO:2000639

GO:2001205

HMNXSV003034354

HMNXSV003041753

Hs.209403.0.A1_3p_at

Hs.31945.0.S2_3p_at

Hs.96487.0.A1_3p_at

Hs.96487.0.A1_3p_x_at

ILMN_1655906

ILMN_1668634

ILMN_1754279

ILMN_1764867

ILMN_1770484

PH_hs_0023734

PH_hs_0035786

TC04001647.hg

g8922851_3p_a_at

Participates

as a member of

FBXW7 R465/347H mutant [nucleoplasm] (Homo sapiens)

Other forms of this molecule

FBXW7alpha [nucleoplasm]

FBXW7alpha R505L [nucleoplasm]

FBXW7alpha R479Q [nucleoplasm]

FBXW7alpha R465C [nucleoplasm]

FBXW7alpha R505C [nucleoplasm]

Modified Residues

Name

L-arginine 465 replaced with L-histidine

Coordinate

465

PsiMod

L-arginine removal [MOD:01632]

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

L-histidine residue [MOD:00018]

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

Disease

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

Cross References

COSMIC

COSV55891746

OpenTargets

ENSG00000109670

ENSEMBL

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

HPA

ENSG00000109670-FBXW7

GeneCards

FBXW7

PRO

Q969H0

Pharos - Targets

Q969H0

GlyGen

Q969H0

PDB

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

Interactors (6)

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)	0.888	10
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)	0.832	7
UniProt:P63208 SKP1	2	SKP1 [cytosol] (R-HSA-174150) SKP1 [nucleoplasm] (R-HSA-187538)	0.821	11
UniProt:P24864 CCNE1	3	CCNE1 [cytosol] (R-HSA-157443) CCNE1 [nucleoplasm] (R-HSA-68363) Unfolded CCNE1 [cytosol] (R-HSA-6813836)	0.581	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