Reactome | FBXW7gamma R387L [nucleoplasm]

FBXW7gamma R387L [nucleoplasm]

Stable Identifier

R-HSA-1602440

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

FBXW7gamma Arg387Leu, FBXW7-4 R387L, FBXW7isoform 4 R387L

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 R505/387L mutant [nucleoplasm] (Homo sapiens)
        
        FBXW7gamma R387L [nucleoplasm] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
17646408	The SCFFBW7 ubiquitin ligase complex as a tumor suppressor in T cell leukemia Thompson, BJ, Buonamici, S, Sulis, ML, Palomero, T, Vilimas, T, Basso, G, Ferrando, AA, Aifantis, I	J Exp Med	2007

External Reference Information

External Reference

UniProt:Q969H0-4 FBXW7

Gene Names

FBXW7, FBW7, FBX30, SEL10

Other Identifiers

0004120671

0004120722

0004590050

0103190671

11725751_a_at

11725752_x_at

11748766_a_at

13793

16980693

218751_s_at

222729_at

229419_at

2789959

2789960

2789961

2789962

2789963

2789964

2789965

2789967

2789970

2789971

2789974

2789977

2789978

2789979

2789981

2789987

2789988

2789990

2789991

2789992

2789993

2789999

2790000

2790001

2790007

2790008

2790009

2790010

2790011

2790012

2790046

2790047

2790048

2790049

2790050

2790051

29987

2OVP

2OVQ

2OVR

48937_at

55294

5IBK

5V4B

61691_at

74386_at

8103206

A_23_P81153

A_24_P174613

AAG16640

AAH37320

AAI17245

AAI17247

AAI43945

AAK57547

AAK60269

AAL06290

AAL06291

AAL07271

AF383178

AF411971

AF411972

AK001933

AY008274

AY033553

AY049984

B7Z2C8

BAA91986

BC037320

BC117244

BC117246

BC143944

CAB013793

CAB029987

CAH18160

CCDS34078

CCDS3777

CCDS3778

CR749305

ENSG00000109670

ENSP00000281708

ENSP00000296555

ENSP00000377528

ENSP00000474725

ENSP00000474971

ENST00000263981.9

ENST00000281708

ENST00000281708.9

ENST00000296555

ENST00000296555.10

ENST00000393956

ENST00000603548

ENST00000603548.6

ENST00000603841

ENST00000603841.1

EntrezGene:55294

EntrezGene:FBXW7

FBXW7

FBXW7-201

FBXW7-202

FBXW7-203

FBXW7-204

FBXW7-206

G0Z2K0

g8922851_3p_a_at

GE55961

GO:0000209

GO:0001570

GO:0001944

GO:0002376

GO:0003674

GO:0005515

GO:0005575

GO:0005622

GO:0005623

GO:0005634

GO:0005654

GO:0005730

GO:0005737

GO:0005739

GO:0005783

GO:0005794

GO:0005829

GO:0006464

GO:0006605

GO:0006629

GO:0006810

GO:0006914

GO:0006950

GO:0007005

GO:0007049

GO:0007059

GO:0007062

GO:0007165

GO:0007219

GO:0008150

GO:0008219

GO:0008283

GO:0009056

GO:0009058

GO:0010629

GO:0010868

GO:0010883

GO:0010992

GO:0015031

GO:0016032

GO:0016567

GO:0019005

GO:0019899

GO:0030154

GO:0030234

GO:0030324

GO:0030332

GO:0030674

GO:0031146

GO:0031398

GO:0031625

GO:0031648

GO:0032182

GO:0032880

GO:0032991

GO:0034641

GO:0040011

GO:0042592

GO:0042752

GO:0042802

GO:0043130

GO:0043161

GO:0043226

GO:0043687

GO:0044403

GO:0045741

GO:0045746

GO:0048471

GO:0048511

GO:0048646

GO:0048856

GO:0048870

GO:0050816

GO:0050821

GO:0051276

GO:0051443

GO:0055088

GO:0070374

GO:0090049

GO:0097027

GO:1901800

GO:1902806

GO:1903026

GO:1903146

GO:1903378

GO:1903955

GO:1990452

GO:2000060

GO:2000346

GO:2000639

GO:2001205

HGNC:16712

Hs.31945.0.S2_3p_at

Hs.96487.0.A1_3p_at

Hs.96487.0.A1_3p_x_at

ILMN_1655906

ILMN_1668634

ILMN_1695379

ILMN_1754279

ILMN_1770484

IPR001680

IPR001810

IPR015943

IPR017986

IPR019775

IPR020472

IPR036047

IPR036322

LRG_1141

MIM:606278

NM_001013415

NM_001349798

NM_018315

NM_033632

NP_001013433

NP_001336727

NP_060785

NP_361014

PF00400

PF12937

PH_hs_0023734

PH_hs_0035786

PR00320

S4R3N3

S4R3U4

SM00256

SM00320

TC04001647.hg

UPI0000035D51

UPI0000035D56

UPI000007007E

XM_011532084

XM_011532085

XM_011532086

XM_011532087

XM_011532088

XM_024454121

XM_024454122

XM_024454123

XM_024454124

XM_024454125

XM_024454126

XP_011530386

XP_011530387

XP_011530388

XP_011530389

XP_011530390

XP_024309889

XP_024309890

XP_024309891

XP_024309892

XP_024309893

XP_024309894

Participant Of

hasCandidate

FBXW7 R505/387L mutant [nucleoplasm]

Other forms of this molecule

FBXW7gamma R387C [nucleoplasm]

FBXW7gamma R347C [nucleoplasm]

FBXW7gamma R361Q [nucleoplasm]

FBXW7gamma R347H [nucleoplasm]

FBXW7gamma [nucleoplasm]

Modified Residues

Name

L-arginine 387 replaced with L-leucine

Coordinate

387

PsiMod

L-arginine removal [MOD:01632]

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

L-leucine residue [MOD:00020]

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

Disease

Name	Identifier	Synonyms
T-cell leukemia	715
cancer	162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_001013433.1, NP_361014.1, NP_060785.2, XP_011530387.1, XP_016863851.1, XP_011530386.1, XP_011530385.1

COSMIC

23000

OpenTargets

ENSG00000109670

GeneCards

Q969H0

HPA

ENSG00000109670-FBXW7

Ensembl

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

PRO

Q969H0

PDB

2OVR, 5IBK, 2OVQ, 5V4B, 2OVP

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P46531 NOTCH1	60	NOTCH1 I1680N S2 cleavage fragment [extracellular region] (R-HSA-2730744) NOTCH1 L1678P S2 cleavage fragment [extracellular region] (R-HSA-2730745) 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) p-NICD1 P2514Rfs4 [nucleoplasm] (R-HSA-2159809) p-NICD1 P2474Afs4 [nucleoplasm] (R-HSA-2902204) NOTCH1 L1574P Extracellular Fragment [extracellular region] (R-HSA-1485582) NOTCH1 L1600P Extracellular Fragment [extracellular region] (R-HSA-2681764) NEXT1 P2474Afs4 [plasma membrane] (R-HSA-2902194) NEXT1 Q2395 [plasma membrane] (R-HSA-2902192) NEXT1 Q2440* [plasma membrane] (R-HSA-2902196) NEXT1 P2514Rfs4 [plasma membrane] (R-HSA-2768989) NICD1 Q2395 [cytosol] (R-HSA-2902195) NICD1 P2514Rfs4 [cytosol] (R-HSA-2768996) NICD1 P2474Afs4 [cytosol] (R-HSA-2902193) NICD1 Q2440* [cytosol] (R-HSA-2902191) NICD1 P2514Rfs4 [nucleoplasm] (R-HSA-2769013) NICD1 P2474Afs4 [nucleoplasm] (R-HSA-2902208) NICD1 Q2395* [nucleoplasm] (R-HSA-2902201) NICD1 Q2440* [nucleoplasm] (R-HSA-2902200) NOTCH1 P2514Rfs4 Transmembrane Fragment [plasma membrane] (R-HSA-2768982) NOTCH1 Q2395 Transmembrane Fragment [plasma membrane] (R-HSA-1485596) NOTCH1 Q2440* Transmembrane Fragment [plasma membrane] (R-HSA-1485602) NOTCH1 P2474Afs*4 Transmembrane Fragment [plasma membrane] (R-HSA-2894873) NOTCH1 t(7;9)(NOTCH1:M1580_K2555) extracellular fragment [extracellular region] (R-HSA-2220929) p-NICD1 [nucleoplasm] (R-HSA-1604444) Glc,GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] (R-HSA-1911426) Glc,Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] (R-HSA-1911415) Glc,Sia-Gal-GlcNAc-Fuc-Pre-NOTCH1 [Golgi membrane] (R-HSA-1911503) FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [Golgi membrane] (R-HSA-1911511) Pre-NOTCH1 [endoplasmic reticulum membrane] (R-HSA-157024) 17xFucT-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] (R-HSA-1467396) 19xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [endoplasmic reticulum membrane] (R-HSA-1467425) 17xFucT-14xGlcS-2xFucS-NOTCH1(19-2555) [Golgi membrane] (R-HSA-1472872) NOTCH1(1665-2555) [Golgi membrane] (R-HSA-157092) 17xFucT-14xGlcS-2xFucS-NOTCH1(19-1664) [Golgi membrane] (R-HSA-1983679) FRINGE-modified NOTCH1 Extracellular Fragment (NECD1) [plasma membrane] (R-HSA-1911512) NOTCH1(1665-2555) [plasma membrane] (R-HSA-157239) 19xFucT-16xGlcS-2xFucS-NOTCH1(19-1664) [extracellular region] (R-HSA-1983670) NOTCH1(1665-1720) [extracellular region] (R-HSA-157654) NOTCH1(1721-1753) [plasma membrane] (R-HSA-157656) NEXT1 [plasma membrane] (R-HSA-157200) NICD1 [cytosol] (R-HSA-157634) NICD1 [nucleoplasm] (R-HSA-157939)	0.837	10
UniProt:P63208 SKP1	2	SKP1 [cytosol] (R-HSA-174150) SKP1 [nucleoplasm] (R-HSA-187538)	0.821	11
UniProt:Q13616 CUL1	3	CUL1 [cytosol] (R-HSA-174230) G76-NEDD8-K720-CUL1 [cytosol] (R-HSA-8952519) CUL1 [nucleoplasm] (R-HSA-187551)	0.784	6
UniProt:P01106 MYC	2	PolyUb-MYC [nucleoplasm] (R-HSA-6783169) MYC [nucleoplasm] (R-HSA-188379)	0.784	6
UniProt:P24864 CCNE1	3	CCNE1 [nucleoplasm] (R-HSA-68363) Unfolded CCNE1 [cytosol] (R-HSA-6813836) CCNE1 [cytosol] (R-HSA-157443)	0.581	3