Reactome | p-11Y-ETV6(1-384)-PDGFRA(552-1089) fusion [plasma membrane]

p-11Y-ETV6(1-384)-PDGFRA(552-1089) fusion [plasma membrane]

Stable Identifier

R-HSA-9673905

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Transcription factor ETV6, ETV6_HUMAN

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
17555450	Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia Curtis, CE, Grand, FH, Musto, P, Clark, A, Murphy, J, Perla, G, Minervini, MM, Stewart, J, Reiter, A, Cross, NC	Br. J. Haematol.	2007

External Reference Information

External Reference

UniProt:P41212 ETV6

Gene Names

ETV6, TEL, TEL1

Chain

chain:1-452

Reference Genes

BioGPS Gene:2120 A0A0S2Z3N6

COSMIC (genes):ETV6 ETV6

CTD Gene:2120 A0A0S2Z3N6

dbSNP Gene:2120 A0A0S2Z3N6

ENSEMBL:ENSG00000139083 ETV6

HGNC:3495 ETV6

KEGG:hsa:2120 ETV6

Monarch:2120 A0A0S2Z3N6

NCBI Gene:2120 A0A0S2Z3N6

OMIM:600618 ETV6

UCSC:P41212 ETV6

Reference Transcript

RefSeq:NM_001987.5 ETV6

Other Identifiers

11743165_at

11743166_at

11743167_at

1638_at

16748407

205585_PM_at

205585_at

2120

225764_PM_at

225764_at

235056_PM_at

235056_at

3405040

3405041

3405042

3405082

3405100

3405101

3405102

3405120

3405121

3405122

3405132

3405134

3405135

3405136

3405142

3405152

3405156

3405157

3405162

3405163

3405164

3405175

3405177

38491_at

55594_at

58239_at

70395_at

7953981

92032_at

A_14_P113857

A_23_P105264

A_24_P372862

A_33_P3210343

A_33_P3356325

GE79814

GO:0000122

GO:0000785

GO:0000977

GO:0000978

GO:0000981

GO:0001227

GO:0001228

GO:0003677

GO:0003700

GO:0005515

GO:0005634

GO:0005730

GO:0005829

GO:0005886

GO:0006355

GO:0006357

GO:0007296

GO:0016020

GO:0019904

GO:0022008

GO:0030154

GO:0043565

GO:0045944

GO:0071425

GO:0097152

HMNXSV003053967

Hs.146381.2.S1_3p_at

Hs.293972.0.S1_3p_at

ILMN_1789596

PH_hs_0034188

TC12003210.hg

U11732_at

U63312_at

g4503610_3p_at

Participates

as a component of

p-11Y ETV6(1-384)-PDGFRA(552-1089) fusion dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

ETV6(1-384)-p-6Y-FLT3(573-993) fusion [cytosol]

ETV6(1-154)insGSFILG-p-6Y-FLT3(573-993) fusion [cytosol]

ETV6(1-336)insGCS-p-6Y-FLT3(573-993) fusion [cytosol]

ETV6(1-301)-p-6Y-FLT3(574-993) fusion [cytosol]

ETV6(1-384)-p-3Y-FLT3(659-1620) fusion [cytosol]

ETV6(1-154)insGSFILG-FLT3(573-993) fusion [cytosol]

ETV6(1-336)insGCS-FLT3(573-993) fusion [cytosol]

ETV6(1-384)-FLT3(573-993) fusion [cytosol]

ETV6(1-301)-FLT3(574-993) fusion [cytosol]

ETV6(1-384)-FLT3(569-993) fusion [cytosol]

ETV6(1-384)-PDGFRA(552-1089) fusion [plasma membrane]

ETV6(1-154)-PDGFRB(527-1106) fusion [plasma membrane]

p-12Y-ETV6(1-154)-PDGFRB(527-1106) fusion [plasma membrane]

Modified Residues

Name

Insertion of residues 552 to 1089 at 385 from UniProt:P16234 PDGFRA

Coordinate

385

Name

O4'-phospho-L-tyrosine at 1018

Coordinate

1018

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 572

Coordinate

572

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 574

Coordinate

574

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 720

Coordinate

720

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 731

Coordinate

731

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 742

Coordinate

742

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 754

Coordinate

754

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 762

Coordinate

762

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 768

Coordinate

768

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 988

Coordinate

988

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Name

O4'-phospho-L-tyrosine at 849

Coordinate

849

PsiMod Name

O4'-phospho-L-tyrosine [MOD:00048]

PsiMod Definition

A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.

Disease

Name	Identifier	Synonyms
hypereosinophilic syndrome	DOID:999	Eosinophilic leukocytosis, eosinophilia

Cross References

RefSeq

NP_001978.1

ZINC - World Drugs

ETV6_HUMAN

OpenTargets

ENSG00000139083

ENSEMBL

ENSG00000139083, ENSP00000379658, ENST00000396373

Mondo

0015691

ZINC - FDA approved

ETV6_HUMAN

ZINC - Substances

ETV6_HUMAN

ZINC target

P41212

PRO

P41212

GlyGen

P41212

PDB

8THA, 8FRK, 1LKY, 9FEH, 2DAO, 8FZU, 8FZV, 7T8J, 7JU2, 7TDY, 7N2B, 7TW9, 9DOC, 1JI7, 7TW7, 8BWU, 7TW8, 8FZ3, 9DP8, 7U4Z, 7N1O, 8E1F, 2QB1, 2QB0, 8FT8, 7U4W, 8FT6, 2QAR, 9DAM, 8FRJ, 5L0P, 9DB5, 9DVG

HPA

ENSG00000139083-ETV6

GeneCards

ETV6

Pharos - Targets

P41212

Orphanet

ETV6

ZINC - Predictions - Purchasable

ETV6_HUMAN

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q13526 PIN1	2	PIN1 [nucleoplasm] (R-HSA-936016) PIN1 [cytosol] (R-HSA-9626823)	0.742	5
UniProt:O75581 LRP6	8	LRP6 [plasma membrane] (R-HSA-206252) p-4S,3T,T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-1458895) p-2S,S1490,2T-LRP6 [plasma membrane] (R-HSA-1458894) LRP6N [extracellular region] (R-HSA-5334021) p-LRP6 [early endosome membrane] (R-HSA-5368496) LRP6 [early endosome membrane] (R-HSA-5368481) p-S1490-LRP6 [plasma membrane] (R-HSA-206156) p-T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-205884)	0.725	4
UniProt:Q13114 TRAF3	4	K63polyUb-TRAF3 [cytosol] (R-HSA-936402) TRAF3 [cytosol] (R-HSA-914241) K48polyUb-TRAF3 [cytosol] (R-HSA-936556) TRAF3 R118W [cytosol] (R-HSA-5602321)	0.671	5
UniProt:O75197 LRP5	5	LRP5 [plasma membrane] (R-HSA-201671) p-5S,5T-LRP5 [plasma membrane] (R-HSA-1458893) p-3S,2T-LRP5 [plasma membrane] (R-HSA-1458905) LRP5 [early endosome membrane] (R-HSA-5368479) LRP5 D666_L809del [plasma membrane] (R-HSA-5339694)	0.643	4
UniProt:Q16236 NFE2L2	13	p-S40-NFE2L2 [nucleoplasm] (R-HSA-9715109) p-S,T-NFE2L2 [nucleoplasm] (R-HSA-9715110) p-S40-NFE2L2 [cytosol] (R-HSA-8932290) p-S,T-NFE2L2 [cytosol] (R-HSA-8932311) NFE2L2 [cytosol] (R-HSA-201566) p-S,T-18 AcK-NFE2L2 [nucleoplasm] (R-HSA-9760033) p-S40-18 AcK-NFE2L2 [nucleoplasm] (R-HSA-9760018) ub-NFE2L2 [cytosol] (R-HSA-9758077) ub-p-S335, S338,T-NFE2L2 [nucleoplasm] (R-HSA-9762055) ub-p-S40, S335, S338- NFE2L2 [nucleoplasm] (R-HSA-9762058) p-S344, S347,T-NFE2L2 [nucleoplasm] (R-HSA-9762048) p-S40, S344, S347- NFE2L2 [nucleoplasm] (R-HSA-9762050) p-S,T,S558-NFE2L2 [nucleoplasm] (R-HSA-9795736)	0.625	5
UniProt:Q13257 MAD2L1	2	MAD2L1 [cytosol] (R-HSA-141400) Activated MAD2L1 [cytosol] (R-HSA-141447)	0.527	2