Reactome | ATIC(1-229)-ALK(1058-1620) fusion [cytosol]

ATIC(1-229)-ALK(1058-1620) fusion [cytosol]

Stable Identifier

R-HSA-9710829

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Bifunctional purine biosynthesis protein ATIC, PUR9_HUMAN

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
10702393	ATIC-ALK: A novel variant ALK gene fusion in anaplastic large cell lymphoma resulting from the recurrent cryptic chromosomal inversion, inv(2)(p23q35) Liu, J, Garicochea, B, Colleoni, GW, Filippa, DA, Ladanyi, M, Bridge, JA	Am J Pathol	2000

External Reference Information

External Reference

UniProt:P31939 ATIC

Gene Names

ATIC, PURH, OK/SW-cl.86

Chain

chain:1-592, initiator methionine:, chain:2-592

Reference Genes

BioGPS Gene:471 ATIC

COSMIC (genes):ATIC ATIC

CTD Gene:471 ATIC

dbSNP Gene:471 ATIC

ENSEMBL:ENSG00000138363 ATIC

ENSEMBL_homo_sapiens_GENE:ENSG00000138363.15 ATIC

HGNC:794 ATIC

KEGG Gene (Homo sapiens):471 ATIC

Monarch:471 ATIC

NCBI Gene:471 ATIC

OMIM:601731 ATIC

UCSC:P31939 ATIC

Reference Transcript

RefSeq:NM_004044.6 ATIC

Other Identifiers

11715755_a_at

16890490

208758_PM_at

208758_at

2526766

2526767

2526768

2526769

2526770

2526771

2526772

2526776

2526777

2526779

2526780

2526782

2526783

2526784

2526785

2526786

2526787

2526788

2526793

2526795

2526801

2526802

2526803

2526804

38811_at

471

8048120

A_23_P68087

D82348_at

GE57324

GO:0003360

GO:0003824

GO:0003937

GO:0004643

GO:0005576

GO:0005615

GO:0005737

GO:0005829

GO:0005886

GO:0006139

GO:0006164

GO:0006177

GO:0006189

GO:0006575

GO:0008152

GO:0010035

GO:0016020

GO:0016740

GO:0016787

GO:0021549

GO:0021987

GO:0031100

GO:0042803

GO:0043226

GO:0044208

GO:0045296

GO:0046452

GO:0046654

GO:0048856

GO:0055086

GO:0070062

GO:0097294

GO:0098761

GO:1901135

HMNXSV003041780

ILMN_1673991

PH_hs_0005040

TC02001260.hg

TC02003807.hg

g2317691_3p_at

Participates

as a candidate of

ALK fusion proteins [cytosol] (Homo sapiens)

as a component of

ATIC(1-229)-ALK(1058-1620) fusion dimer [cytosol] (Homo sapiens)

Other forms of this molecule

ATIC(1-230)-p-7Y-ALK(1059-1620) fusion [cytosol]

ATIC(1-229)-p-7Y-ALK(1058-1620) fusion [cytosol]

ATIC(1-230)-ALK(1059-1620) fusion [cytosol]

ATIC [cytosol]

Modified Residues

Name

Insertion of residues 1058 to 1620 at 230 from UniProt:Q9UM73 ALK

Coordinate

230

Disease

Name	Identifier	Synonyms
anaplastic large cell lymphoma	DOID:0050744

Cross References

RefSeq

NP_004035.2

OpenTargets

ENSG00000138363

ZINC - Substances

PUR9_HUMAN

ZINC - Biogenic

PUR9_HUMAN

ZINC target

P31939

PRO

P31939

PDB

1PL0, 1PKX, 1P4R, 5UZ0, 5UY8

ZINC - Metabolites

PUR9_HUMAN

COSMIC

COSF444

IntEnz

3.5.4.10, 2.1.2.3

GeneCards

P31939

HPA

ENSG00000138363-ATIC

Ensembl

ENSP00000415935, ENSG00000138363, ENST00000435675, ENSP00000236959, ENST00000236959

Pharos - Targets

P31939

ZINC - Predictions - Purchasable

PUR9_HUMAN

Orphanet

19848

HMDB Protein

HMDBP00882

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P00533 EGFR	20	p-6Y-EGFR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869138) p-5Y-EGFRvIII [plasma membrane] (R-HSA-1248649) EGFRvIII [plasma membrane] (R-HSA-1214162) p-6Y-EGFR E746_A750del;T790M [plasma membrane] (R-HSA-1182985) p-6Y-EGFR L858R;T790M [plasma membrane] (R-HSA-1182984) p-6Y-EGFR A767_V769dup [plasma membrane] (R-HSA-1996343) p-6Y-EGFR N771_H773dup [plasma membrane] (R-HSA-1996342) p-6Y-EGFR K739_I744dup [plasma membrane] (R-HSA-1996346) p-6Y-EGFR D770_N771insNPG [plasma membrane] (R-HSA-1996335) p-6Y-EGFR E746_A750del [plasma membrane] (R-HSA-1181214) p-6Y-EGFR L858R [plasma membrane] (R-HSA-1173211) p-6Y-EGFR G719S [plasma membrane] (R-HSA-1169417) p-6Y-EGFR L747_P753delinsS [plasma membrane] (R-HSA-1228038) p-6Y-EGFR L747_A750delinsP [plasma membrane] (R-HSA-1228044) p-6Y-EGFR L747_T751del [plasma membrane] (R-HSA-1228041) p-6Y-EGFR L747_S752del [plasma membrane] (R-HSA-1228040) p-6Y-EGFR L747_T751delinsP [plasma membrane] (R-HSA-1228042) p-6Y-EGFR E746_T751delinsA [plasma membrane] (R-HSA-1228037) p-6Y-EGFR E746_S752delinsV [plasma membrane] (R-HSA-1228039) p-6Y-EGFR L861Q [plasma membrane] (R-HSA-1177541)	0.553	2