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:Q7Z6Z7 HUWE1

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Literature References

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

External Reference Information

External Reference

UniProt:Q8N726 CDKN2A

Gene Names

CDKN2A, CDKN2, MLM

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

HGNC:1787 CDKN2A

Monarch:1029 CDKN2A

NCBI Gene:1029 CDKN2A

OMIM:600160 CDKN2A

UCSC:Q8N726 CDKN2A

Reference Transcript

RefSeq:NM_058195.4 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

211156_PM_at

211156_at

3201444

3201445

3201446

3201447

3201448

3201450

3201451

3201452

3201453

3201454

3201455

3201456

3201457

3201458

3201459

3201460

3201461

3201464

3201465

3201466

3201467

3201472

3201473

3201474

3201477

3201478

3201480

3201481

3201483

3201485

49757_at

73130_s_at

73132_r_at

8160441

A_23_P43484

A_23_P43490

A_33_P3411628

GE59038

GE897374

GO:0000122

GO:0000209

GO:0001953

GO:0002039

GO:0003677

GO:0003723

GO:0003824

GO:0004861

GO:0005515

GO:0005634

GO:0005654

GO:0005730

GO:0005737

GO:0005739

GO:0005759

GO:0005829

GO:0006351

GO:0006355

GO:0006364

GO:0006915

GO:0007265

GO:0008285

GO:0008544

GO:0009303

GO:0010468

GO:0010628

GO:0016604

GO:0016740

GO:0016925

GO:0019789

GO:0019901

GO:0030154

GO:0030216

GO:0030308

GO:0030575

GO:0030889

GO:0031647

GO:0031648

GO:0032991

GO:0033088

GO:0033235

GO:0033598

GO:0033600

GO:0034393

GO:0034504

GO:0035019

GO:0035985

GO:0042593

GO:0043065

GO:0043517

GO:0043616

GO:0045736

GO:0045786

GO:0045892

GO:0045893

GO:0045944

GO:0046822

GO:0046825

GO:0048103

GO:0048856

GO:0050821

GO:0051059

GO:0051726

GO:0055104

GO:0055105

GO:0060057

GO:0060058

GO:0061629

GO:0070301

GO:0070534

GO:0090398

GO:0090399

GO:0090402

GO:0097190

GO:0097371

GO:0097718

GO:0098772

GO:0140096

GO:1900182

GO:1901798

GO:1902570

GO:1903051

GO:1904667

GO:1990000

GO:1990948

GO:2000045

GO:2000059

GO:2000111

GO:2000435

HMNXSV003019577

ILMN_1717714

ILMN_1744295

ILMN_1757255

PH_hs_0019731

PH_hs_0039700

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

ENSEMBL

ENST00000579755, ENSG00000147889, ENSP00000462950, ENSP00000432664, ENST00000530628

Mondo

0005105

GeneCards

CDKN2A

PRO

Q8N726

Pharos - Targets

Q8N726

Interactors (13)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q00987 MDM2	11	p-S166,S188-MDM2 [nucleoplasm] (R-HSA-6793669) p-S166,S188-MDM2 [cytosol] (R-HSA-198638) MDM2 [cytosol] (R-HSA-198644) MDM2 [nucleoplasm] (R-HSA-69486) PolyUb,p-S166,S188-MDM2 [nucleoplasm] (R-HSA-6795669) p-5S,T-MDM2 [nucleoplasm] (R-HSA-6804954) MDM2 [endocytic vesicle membrane] (R-HSA-416849) MDM2 [plasma membrane] (R-HSA-416843) p-S166,S188,T218-MDM2 [nucleoplasm] (R-HSA-6792862) monoSUMO1-K182-MDM2 [nucleoplasm] (R-HSA-3000408) PolyUb-MDM2 [nucleoplasm] (R-HSA-6782472)	0.813	5
UniProt:Q7Z6Z7 HUWE1	4	HUWE1 [cytosol] (R-HSA-975983) HUWE1 [secretory granule lumen] (R-HSA-6801481) HUWE1 [extracellular region] (R-HSA-6806466) HUWE1 [ficolin-1-rich granule lumen] (R-HSA-6801467)	0.677	5
IntAct:EBI-4399559 UBIQ			0.667	3
UniProt:Q8TAQ5 ZNF420	2	ZNF420 [nucleoplasm] (R-HSA-1247509) p-S68-ZNF420 [nucleoplasm] (R-HSA-6799095)	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	DAXX [nucleoplasm] (R-HSA-3222068) DAXX A36Qfs108 [nucleoplasm] (R-HSA-9673105) DAXX K56 [nucleoplasm] (R-HSA-9673089) DAXX A103Sfs40 [nucleoplasm] (R-HSA-9673121) DAXX C106 [nucleoplasm] (R-HSA-9673079) DAXX E72Nfs72 [nucleoplasm] (R-HSA-9673110) DAXX E104 [nucleoplasm] (R-HSA-9673078) DAXX H26Tfs118 [nucleoplasm] (R-HSA-9673114) DAXX S138 [nucleoplasm] (R-HSA-9673081) DAXX C74* [nucleoplasm] (R-HSA-9673096) DAXX R48Vfs93 [nucleoplasm] (R-HSA-9673103) DAXX L98Vfs13 [nucleoplasm] (R-HSA-9673102) monoSUMO1-K630,K631-DAXX [nucleoplasm] (R-HSA-4086086)	0.611	8
UniProt:Q14669 TRIP12	1	TRIP12 [cytosol] (R-HSA-976046)	0.602	4
UniProt:P06748 NPM1	11	NPM1 [cytosol] (R-HSA-3008211) p-S4-NPM1 [cytosol] (R-HSA-6801679) NPM1 [nucleoplasm] (R-HSA-606320) NPM1 [granular component] (R-HSA-9017702) NPM1(1-117)-ALK(1058-1620) fusion [cytosol] (R-HSA-9699834) NPM1(1-117)-p-7Y-ALK(1058-1620) fusion [cytosol] (R-HSA-9699861) NPM1(1-117)-ALK(1068-1620) fusion [cytosol] (R-HSA-9730697) NPM1(1-117)-p-7Y-ALK(1068-1620) fusion [cytosol] (R-HSA-9730703) NPM1(1-117)-p-7Y-ALK(1058-1620) fusion [nucleoplasm] (R-HSA-9725010) polySUMO2,3-K263-NPM1 [nucleoplasm] (R-HSA-4086056) monoSUMO1-K263-NPM1 [nucleoplasm] (R-HSA-4086039)	0.564	2
UniProt:P04198 MYCN	1	MYCN [nucleoplasm] (R-HSA-452357)	0.556	3
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: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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