Reactome | RRBP1(1-1253)insTPERALSSGLH-ALK(1106-1620) fusion [endoplasmic reticulum membrane]

RRBP1(1-1253)insTPERALSSGLH-ALK(1106-1620) fusion [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-9702005

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Ribosome-binding protein 1, RRBP1_HUMAN

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
27874193	ALK oncoproteins in atypical inflammatory myofibroblastic tumours: novel RRBP1-ALK fusions in epithelioid inflammatory myofibroblastic sarcoma Fletcher, JA, Hornick, JL, Lee, CT, Ou, WB, Mariño-Enríquez, A, Li, CF, Lee, JC, Zhu, MJ, Huang, HY	J. Pathol.	2017

External Reference Information

External Reference

UniProt:Q9P2E9 RRBP1

Gene Names

RRBP1, KIAA1398

Chain

chain:1-1410

Reference Genes

BioGPS Gene:6238 RRBP1

COSMIC (genes):RRBP1 RRBP1

CTD Gene:6238 RRBP1

dbSNP Gene:6238 RRBP1

ENSEMBL:ENSG00000125844 RRBP1

HGNC:10448 RRBP1

Monarch:6238 RRBP1

NCBI Gene:6238 RRBP1

OMIM:601418 RRBP1

UCSC:Q9P2E9 RRBP1

Reference Transcript

Other Identifiers

11743764_a_at

11743765_a_at

11754452_x_at

16917468

201203_PM_s_at

201203_s_at

201204_PM_s_at

201204_s_at

201206_PM_s_at

201206_s_at

33212_at

33213_g_at

3899177

3899178

3899179

3899182

3899187

3899191

3899194

3899198

3899199

3899200

3899201

3899202

3899203

3899205

3899207

3899210

3899211

3899212

3899213

3899217

3899219

3899221

3899223

3899224

3899225

3899229

3899233

3899235

3899237

3899239

3899240

3899241

3899242

3899254

3899255

3899256

3899257

3899258

3899259

3899260

3899261

3899262

3899263

3899264

3899273

3899276

3899277

3899278

6238

8065136

A_33_P3220277

GE54074

GO:0001649

GO:0003723

GO:0005515

GO:0005783

GO:0005789

GO:0005840

GO:0006412

GO:0015031

GO:0016020

GO:0030154

GO:0038023

GO:0043226

GO:0060089

HMNXSV003011695

HMNXSV003022438

Hs.98614.0.A1_3p_a_at

Hs.98614.0.A3_3p_a_at

ILMN_1803810

ILMN_2268381

ILMN_2360784

PH_hs_0005454

TC20000657.hg

TC20001446.hg

g4759055_3p_a_at

Participates

as a candidate of

ALK fusion proteins [cytosol] (Homo sapiens)

as a component of

RRBP1(1-1264)-ALK(1106-1620) fusion dimer [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

RRBP1(1-1253)insTPERALSSGLH-p-6Y-ALK(1106-1620) fusion [endoplasmic reticulum membrane]

Modified Residues

Name

Insertion of residues 1106 to 1620 at 1254 from UniProt:Q9UM73 ALK

Coordinate

1254

Name

Replacement of residues 1253 to 1253 by LTPERALSSGLH

Disease

Name	Identifier	Synonyms
epithelioid inflammatory myofibroblastic sarcoma	DOID:0080372

Cross References

ENSEMBL

ENSP00000246043, ENSP00000354045, ENST00000360807, ENSP00000367038, ENST00000377807, ENST00000246043, ENST00000377813, ENSP00000367044

OpenTargets

ENSG00000125844

HPA

ENSG00000125844-RRBP1

PRO

Q9P2E9

Pharos - Targets

Q9P2E9

GlyGen

Q9P2E9

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104)	0.615	10