Reactome | p14ARF V22Pfs*46 [cytosol]

p14ARF V22Pfs*46 [cytosol]

Stable Identifier

R-HSA-9646285

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

CDKN2A-4 V22Pfs*46, p14ARF Val22Profs*Ter46, CDKN2A-4 Val22Profs*Ter46, p14ARF 60ins16

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Locations in the PathwayBrowser for interactor UniProt:Q8TAQ5 ZNF420

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Literature References

PubMed ID	Title	Journal	Year
11571653	A melanoma-associated germline mutation in exon 1beta inactivates p14ARF Puig, S, Milà, M, Darmanian, AP, Badenas, C, Kefford, RF, Rizos, H, Jiménez, L, Malvehy, J	Oncogene	2001

External Reference Information

External Reference

UniProt:Q8N726 CDKN2A

Gene Names

CDKN2A, CDKN2, MLM, MTS1

Chain

chain:1-132

Reference Genes

BioGPS Gene:1029 CDKN2A

COSMIC (genes):CDKN2A CDKN2A

CTD Gene:1029 CDKN2A

dbSNP Gene:1029 CDKN2A

ENSEMBL:ENSG00000147889 CDKN2A

ENSEMBL_homo_sapiens_GENE:ENSG00000147889.18 CDKN2A

Monarch:1029 CDKN2A

NCBI Gene:1029 CDKN2A

OMIM:600160 CDKN2A

UCSC:Q8N726 CDKN2A

Reference Transcript

RefSeq:NM_058195.3 CDKN2A

Other Identifiers

1029

11718293_a_at

11753744_a_at

11753745_x_at

1713_s_at

207039_PM_at

207039_at

209644_PM_x_at

209644_x_at

3201444

3201445

3201446

3201447

3201448

3201457

3201458

3201459

3201460

3201480

3201481

73132_r_at

8160441

A_23_P43484

A_23_P43490

A_33_P3411628

GE59038

GO:0000209

GO:0000278

GO:0002039

GO:0002376

GO:0003677

GO:0003824

GO:0005515

GO:0005634

GO:0005654

GO:0005730

GO:0005739

GO:0005759

GO:0005829

GO:0006351

GO:0006355

GO:0006364

GO:0006469

GO:0006886

GO:0006913

GO:0006915

GO:0006919

GO:0007005

GO:0007049

GO:0007155

GO:0008285

GO:0008637

GO:0010389

GO:0010628

GO:0012501

GO:0016604

GO:0016740

GO:0016925

GO:0019789

GO:0023052

GO:0030154

GO:0030163

GO:0030575

GO:0030889

GO:0031647

GO:0031648

GO:0032991

GO:0033088

GO:0033235

GO:0034504

GO:0036211

GO:0042254

GO:0043065

GO:0043226

GO:0043517

GO:0045893

GO:0045944

GO:0046825

GO:0048103

GO:0048856

GO:0050821

GO:0051444

GO:0051726

GO:0055105

GO:0061629

GO:0070534

GO:0090398

GO:0097371

GO:0097718

GO:0098772

GO:0140096

GO:1900182

GO:1901798

GO:1902510

GO:1902570

GO:1904667

GO:1990000

GO:1990948

GO:2000059

GO:2000435

HMNXSV003019577

ILMN_1717714

ILMN_1744295

U26727_at

g1353569_3p_a_at

g1353569_3p_x_at

g4206166_3p_a_at

g4502748_3p_at

Participates

as an input of

p14ARF mutant does not translocate to the nucleus (Homo sapiens)

Other forms of this molecule

p14ARF [nucleoplasm]

p14ARF [cytosol]

p14ARF [mitochondrial matrix]

p14ARF R98L;R99S [cytosol]

p14ARF R82C [cytosol]

p14ARF R90H [cytosol]

p14ARF R88Q [cytosol]

p14ARF R87C [cytosol]

p14ARF R81G [cytosol]

p14ARF R98Q [cytosol]

p14ARF R99C [cytosol]

Modified Residues

Name

Replacement of residues 21 to 66 by PAASEGFRGSHPAAHGGVGSARGARRCGPRADATEEPASRAAAAS

Disease

Name	Identifier	Synonyms
melanoma	DOID:1909	Naevocarcinoma, melanoma, melanoma, malignant melanoma, morphology (morphologic abnormality), malignant melanoma NOS (morphologic abnormality), malignant melanoma (disorder), malignant melanoma, malignant melanoma, malignant melanoma, malignant melanoma
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_478102.2

OpenTargets

ENSG00000147889

GeneCards

Q8N726

Ensembl

ENSG00000147889, ENST00000579755, ENSP00000432664, ENSP00000462950, ENST00000530628

PRO

Q8N726

Pharos - Targets

Q8N726

Interactors (13)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q00987 MDM2	11	PolyUb-MDM2 [nucleoplasm] (R-HSA-6782472) monoSUMO1-K182-MDM2 [nucleoplasm] (R-HSA-3000408) MDM2 [plasma membrane] (R-HSA-416843) MDM2 [endocytic vesicle membrane] (R-HSA-416849) p-5S,T-MDM2 [nucleoplasm] (R-HSA-6804954) PolyUb,p-S166,S188-MDM2 [nucleoplasm] (R-HSA-6795669) p-S166,S188,T218-MDM2 [nucleoplasm] (R-HSA-6792862) MDM2 [nucleoplasm] (R-HSA-69486) MDM2 [cytosol] (R-HSA-198644) p-S166,S188-MDM2 [cytosol] (R-HSA-198638) p-S166,S188-MDM2 [nucleoplasm] (R-HSA-6793669)	0.813	5
UniProt:Q7Z6Z7 HUWE1	4	HUWE1 [secretory granule lumen] (R-HSA-6801481) HUWE1 [extracellular region] (R-HSA-6806466) HUWE1 [ficolin-1-rich granule lumen] (R-HSA-6801467) HUWE1 [cytosol] (R-HSA-975983)	0.677	5
IntAct:EBI-4399559 UBIQ			0.667	3
UniProt:Q8TAQ5 ZNF420	2	p-S68-ZNF420 [nucleoplasm] (R-HSA-6799095) ZNF420 [nucleoplasm] (R-HSA-1247509)	0.644	8
UniProt:P04637 TP53	20	Unfolded TP53 [cytosol] (R-HSA-6813797) TP53 [cytosol] (R-HSA-8869337) PolyUb-TP53 [nucleoplasm] (R-HSA-6782509) polySUMO2,3-K386-TP53 [nucleoplasm] (R-HSA-2997661) TP53 F341C [nucleoplasm] (R-HSA-9726318) TP53 G334V [nucleoplasm] (R-HSA-9726126) TP53 L330H [nucleoplasm] (R-HSA-9726124) TP53 A347T [nucleoplasm] (R-HSA-9726339) TP53 R337C [nucleoplasm] (R-HSA-9726118) TP53 L344P [nucleoplasm] (R-HSA-9726075) TP53 L344R [nucleoplasm] (R-HSA-9726073) TP53 R337H [nucleoplasm] (R-HSA-9726169) TP53 R337P [nucleoplasm] (R-HSA-9726168) TP53 L330P [nucleoplasm] (R-HSA-9726136) TP53 L348S [nucleoplasm] (R-HSA-9726366) TP53 R337L [nucleoplasm] (R-HSA-9726163) TP53 K351E [nucleoplasm] (R-HSA-9726258) TP53 F338I [nucleoplasm] (R-HSA-9726358) TP53 R342P [nucleoplasm] (R-HSA-9726101) TP53 L330R [nucleoplasm] (R-HSA-9726133)	0.623	3
UniProt:Q9UER7 DAXX	13	monoSUMO1-K630,K631-DAXX [nucleoplasm] (R-HSA-4086086) DAXX L98Vfs13 [nucleoplasm] (R-HSA-9673102) DAXX R48Vfs93 [nucleoplasm] (R-HSA-9673103) DAXX C74* [nucleoplasm] (R-HSA-9673096) DAXX S138* [nucleoplasm] (R-HSA-9673081) DAXX H26Tfs118 [nucleoplasm] (R-HSA-9673114) DAXX E104 [nucleoplasm] (R-HSA-9673078) DAXX E72Nfs72 [nucleoplasm] (R-HSA-9673110) DAXX C106 [nucleoplasm] (R-HSA-9673079) DAXX A103Sfs40 [nucleoplasm] (R-HSA-9673121) DAXX K56 [nucleoplasm] (R-HSA-9673089) DAXX A36Qfs*108 [nucleoplasm] (R-HSA-9673105) DAXX [nucleoplasm] (R-HSA-3222068)	0.611	8
UniProt:Q14669 TRIP12	1	TRIP12 [cytosol] (R-HSA-976046)	0.602	4
UniProt:P06748 NPM1	11	monoSUMO1-K263-NPM1 [nucleoplasm] (R-HSA-4086039) polySUMO2,3-K263-NPM1 [nucleoplasm] (R-HSA-4086056) NPM1(1-117)-p-7Y-ALK(1058-1620) fusion [nucleoplasm] (R-HSA-9725010) NPM1(1-117)-p-7Y-ALK(1068-1620) fusion [cytosol] (R-HSA-9730703) NPM1(1-117)-ALK(1068-1620) fusion [cytosol] (R-HSA-9730697) NPM1(1-117)-p-7Y-ALK(1058-1620) fusion [cytosol] (R-HSA-9699861) NPM1(1-117)-ALK(1058-1620) fusion [cytosol] (R-HSA-9699834) NPM1 [granular component] (R-HSA-9017702) NPM1 [nucleoplasm] (R-HSA-606320) NPM1 [cytosol] (R-HSA-3008211) p-S4-NPM1 [cytosol] (R-HSA-6801679)	0.564	2
UniProt:Q07021 C1QBP	3	C1QBP [cytosol] (R-HSA-9645690) C1QBP [mitochondrial matrix] (R-HSA-9645697) C1QBP [plasma membrane] (R-HSA-158123)	0.556	3
UniProt:P04198 MYCN	1	MYCN [nucleoplasm] (R-HSA-452357)	0.556	3
UniProt:P08047 SP1	1	SP1 [nucleoplasm] (R-HSA-1592223)	0.544	4
UniProt:Q8AZK7 EBNA5			0.543	5
UniProt:P18146 EGR1	1	EGR1 [nucleoplasm] (R-HSA-1031703)	0.524	4

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