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

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

Stable Identifier

R-HSA-9703312

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Transcription factor ETV6, ETV6_HUMAN

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
21705501	Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3 Score, J, Erben, P, Haferlach, C, Gesk, S, Ritter, M, Telford, N, Haferlach, T, Reiter, A, Cross, NC, Metzgeroth, G, Hofmann, WK, Walz, C, Bloor, A, Hochhaus, A		2011

External Reference Information

External Reference

UniProt:P41212 ETV6

Gene Names

ETV6, TEL, TEL1

Chain

chain:1-452

Reference Genes

BioGPS Gene:2120 ETV6

COSMIC (genes):ETV6 ETV6

CTD Gene:2120 ETV6

dbSNP Gene:2120 ETV6

ENSEMBL:ENSG00000139083 ETV6

ENSEMBL_homo_sapiens_GENE:ENSG00000139083.11 ETV6

HGNC:3495 ETV6

KEGG Gene (Homo sapiens):2120 ETV6

Monarch:2120 ETV6

NCBI Gene:2120 ETV6

OMIM:600618 ETV6

UCSC:P41212 ETV6

Reference Transcript

RefSeq:NM_001987.4 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

3405041

3405042

3405100

3405132

3405142

3405152

3405156

3405157

3405162

3405163

3405164

3405175

3405177

38491_at

55594_at

58239_at

7953981

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:0005694

GO:0005730

GO:0005829

GO:0005886

GO:0006351

GO:0006355

GO:0006357

GO:0007296

GO:0012501

GO:0019904

GO:0022008

GO:0022414

GO:0030154

GO:0043226

GO:0043565

GO:0045944

GO:0048856

GO:0071425

GO:0097152

GO:0140110

GO:1990837

HMNXSV003053967

Hs.146381.2.S1_3p_at

Hs.293972.0.S1_3p_at

ILMN_1789596

PH_hs_0034188

TC12003210.hg

U11732_at

g4503610_3p_at

Participates

as a component of

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

Other forms of this molecule

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

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

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

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

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

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

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

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

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

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

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

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

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

Modified Residues

Name

Insertion of residues 573 to 993 at 155 from UniProt:P36888 FLT3

Coordinate

155

Name

Replacement of residues 154 to 154 by EGSFILG

Disease

Name	Identifier	Synonyms
myeloproliferative neoplasm	DOID:2226	CMPD, chronic myeloproliferative disease, CMPD, U

Cross References

RefSeq

NP_001978.1

ZINC - World Drugs

ETV6_HUMAN

OpenTargets

ENSG00000139083

ZINC - FDA approved

ETV6_HUMAN

ZINC - Substances

ETV6_HUMAN

ZINC target

P41212

PRO

P41212

PDB

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

HPA

ENSG00000139083-ETV6

GeneCards

P41212

Ensembl

ENSP00000379658, ENST00000396373, ENSG00000139083

Pharos - Targets

P41212

ZINC - Predictions - Purchasable

ETV6_HUMAN

Orphanet

16866

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q13114 TRAF3	4	TRAF3 R118W [cytosol] (R-HSA-5602321) K48polyUb-TRAF3 [cytosol] (R-HSA-936556) TRAF3 [cytosol] (R-HSA-914241) K63polyUb-TRAF3 [cytosol] (R-HSA-936402)	0.671	5
UniProt:Q13526 PIN1	2	PIN1 [cytosol] (R-HSA-9626823) PIN1 [nucleoplasm] (R-HSA-936016)	0.666	4
UniProt:O75581 LRP6	8	p-T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-205884) p-S1490-LRP6 [plasma membrane] (R-HSA-206156) LRP6 [early endosome membrane] (R-HSA-5368481) p-LRP6 [early endosome membrane] (R-HSA-5368496) LRP6N [extracellular region] (R-HSA-5334021) p-2S,S1490,2T-LRP6 [plasma membrane] (R-HSA-1458894) p-4S,3T,T1479,S1490,T1493-LRP6 [plasma membrane] (R-HSA-1458895) LRP6 [plasma membrane] (R-HSA-206252)	0.643	3
UniProt:Q16236 NFE2L2	13	p-S,T,S558-NFE2L2 [nucleoplasm] (R-HSA-9795736) p-S40, S344, S347- NFE2L2 [nucleoplasm] (R-HSA-9762050) p-S344, S347,T-NFE2L2 [nucleoplasm] (R-HSA-9762048) ub-p-S40, S335, S338- NFE2L2 [nucleoplasm] (R-HSA-9762058) ub-p-S335, S338,T-NFE2L2 [nucleoplasm] (R-HSA-9762055) ub-NFE2L2 [cytosol] (R-HSA-9758077) p-S40-18 AcK-NFE2L2 [nucleoplasm] (R-HSA-9760018) p-S,T-18 AcK-NFE2L2 [nucleoplasm] (R-HSA-9760033) NFE2L2 [cytosol] (R-HSA-201566) p-S,T-NFE2L2 [cytosol] (R-HSA-8932311) p-S40-NFE2L2 [cytosol] (R-HSA-8932290) p-S,T-NFE2L2 [nucleoplasm] (R-HSA-9715110) p-S40-NFE2L2 [nucleoplasm] (R-HSA-9715109)	0.625	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)	0.527	3

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