Reactome | p16INK4A R99P [cytosol]

p16INK4A R99P [cytosol]

Stable Identifier

R-HSA-9632531

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

p16INK4A Arg99Pro, CDKN2A R99P, CDKN2A Arg99Pro

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Disease (Homo sapiens)

- Diseases of cellular response to stress (Homo sapiens)
  - Diseases of Cellular Senescence (Homo sapiens)
    - Evasion of Oncogene Induced Senescence Due to p16INK4A Defects (Homo sapiens)
      - Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 (Homo sapiens)
        
        p16INK4A mutants do not bind CDK4 (Homo sapiens)
        
        p16INK4A LoF mutants (CDK4) [cytosol] (Homo sapiens)
        
        p16INK4A R99P [cytosol] (Homo sapiens)
    - Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects (Homo sapiens)
      - Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 (Homo sapiens)
        
        p16INK4A mutants do not bind CDK4 (Homo sapiens)
        
        p16INK4A LoF mutants (CDK4) [cytosol] (Homo sapiens)
        
        p16INK4A R99P [cytosol] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
23190892	Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions Jenkins, NC, Jung, J, Liu, T, Wilde, M, Holmen, SL, Grossman, D	J. Invest. Dermatol.	2013
19260062	Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients Kannengiesser, C, Brookes, S, del Arroyo, AG, Pham, D, Bombled, J, Barrois, M, Mauffret, O, Avril, MF, Chompret, A, Lenoir, GM, Sarasin, A	Hum. Mutat.	2009

External Reference Information

External Reference

UniProt:P42771 CDKN2A

Gene Names

CDKN2A, CDKN2, MTS1

Chain

chain:1-156

Reference Genes

BioGPS Gene:1029 CDKN2A

COSMIC (genes):CDKN2A CDKN2A

CTD Gene:1029 CDKN2A

dbSNP Gene:1029 CDKN2A

ENSEMBL:ENSG00000147889 CDKN2A

KEGG Gene (Homo sapiens):1029 CDKN2A

Monarch:1029 CDKN2A

NCBI Gene:1029 CDKN2A

OMIM:600160 CDKN2A

UCSC:P42771 CDKN2A

Reference Transcript

Other Identifiers

0002570204

0005130288

0101400494

1029

11718293_a_at

1713_s_at

207039_at

209644_x_at

211156_at

3201444

3201445

3201446

3201447

3201448

3201450

3201451

3201457

3201458

3201459

3201460

3201461

3201464

3201465

3201466

3201467

3201468

3201469

3201470

3201477

3201478

3201483

3201485

73132_r_at

8160441

A_23_P43484

A_23_P43490

A_33_P3411628

GE59038

GO:0000082

GO:0000278

GO:0001953

GO:0003674

GO:0003723

GO:0004861

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005694

GO:0005737

GO:0005829

GO:0006464

GO:0006950

GO:0007049

GO:0007050

GO:0007155

GO:0007165

GO:0007265

GO:0007568

GO:0008134

GO:0008150

GO:0008219

GO:0008283

GO:0008285

GO:0009058

GO:0016301

GO:0016310

GO:0019899

GO:0019901

GO:0022607

GO:0030234

GO:0030308

GO:0032088

GO:0034393

GO:0034641

GO:0035985

GO:0035986

GO:0040007

GO:0042326

GO:0043226

GO:0045736

GO:0045892

GO:0051059

GO:0051276

GO:0090398

GO:0090399

GO:2000111

GO:2000134

GO:2000774

ILMN_1717714

ILMN_1757255

PH_hs_0019731

U26727_at

g1353569_3p_a_at

g1353569_3p_x_at

g4206166_3p_a_at

g4502748_3p_at

Participant Of

hasMember

p16INK4A LoF mutants (CDK4) [cytosol]

Other forms of this molecule

p16INK4A D84G [cytosol]

p16INK4A E88* [cytosol]

p16INK4A R87P [cytosol]

p16INK4A V126D [cytosol]

p16INK4A W110* [cytosol]

p16INK4A D84H [cytosol]

p16INK4A R80* [cytosol]

p16INK4A P114L [cytosol]

p16INK4A R58* [cytosol]

p16INK4A D84N [cytosol]

p16INK4A M53I [cytosol]

p16INK4A D84Y [cytosol]

p16INK4A G101W [cytosol]

p16INK4A P81L [cytosol]

p16INK4A A20P [cytosol]

p16INK4A D84V [cytosol]

p16INK4A P81T [cytosol]

p16INK4A P81H [cytosol]

p16INK4A D84A [cytosol]

p16INK4A P81R [cytosol]

p16INK4A E10* [cytosol]

p16INK4A S12* [cytosol]

p16INK4A P114T [cytosol]

p16INK4A P114S [cytosol]

p16INK4A G23fs*3 [cytosol]

p16INK4A E61* [cytosol]

p16INK4A A20T [cytosol]

p16INK4A A36fs*17 [cytosol]

p16INK4A E69* [cytosol]

p16INK4A W15fs*1 [cytosol]

p16INK4A Y44* [cytosol]

p16INK4A T18fs*15 [cytosol]

p16INK4A E26* [cytosol]

p16INK4A E33* [cytosol]

p16INK4A Q50* [cytosol]

p16INK4A E120* [cytosol]

p16INK4A S7fs*8 [cytosol]

p16INK4A W15* [cytosol]

p16INK4A P75* [cytosol]

p16INK4A C72* [cytosol]

p16INK4A E119* [cytosol]

p16INK4A A20E [cytosol]

p16INK4A N39fs*14 [cytosol]

p16INK4A P114R [cytosol]

p16INK4A P114H [cytosol]

p16INK4A E27* [cytosol]

p16INK4A P81S [cytosol]

p16INK4A G101V [cytosol]

p16INK4A Y44fs*1 [cytosol]

p16INK4A V126I [cytosol]

p16INK4A L16fs*9 [cytosol]

p16INK4A V126A [cytosol]

p16INK4A T18fs*8 [cytosol]

p16INK4A V126F [cytosol]

p16INK4A L37fs*16 [cytosol]

p16INK4A G35V [cytosol]

p16INK4A G23D [cytosol]

p16INK4A R24P [cytosol]

p16INK4A R80P [cytosol]

p16INK4A G35A [cytosol]

p16INK4A E88K [cytosol]

p16INK4A T77P [cytosol]

p16INK4A L97R [cytosol]

p16INK4A T18_A19dup [cytosol]

p16INK4A G67_N71del [cytosol]

p16INK4A A60R [cytosol]

p16INK4A D74Y [cytosol]

p16INK4A A60V [cytosol]

p16INK4A R112_L113insR [cytosol]

p16INK4A A60S [cytosol]

p16INK4A L97P [cytosol]

p16INK4A G23S [cytosol]

p16INK4A A60E [cytosol]

p16INK4A G23V [cytosol]

p16INK4A G35R [cytosol]

p16INK4A T77S [cytosol]

p16INK4A [cytosol]

p16INK4A G35E [cytosol]

p16INK4A G35W [cytosol]

Modified Residues

Name

L-arginine 99 replaced with L-proline

Coordinate

PsiMod

L-proline residue [MOD:00024]

A protein modification that effectively converts a source amino acid residue to L-proline.

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

Name	Identifier	Synonyms
melanoma	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
lung adenocarcinoma	3910	nonsmall cell adenocarcinoma
cancer	162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_478104.2, XP_011515981.1, NP_000068.1, NP_001182061.1, XP_005251400.1

COSMIC

COSM342060

OpenTargets

ENSG00000147889

GeneCards

P42771

Ensembl

ENSP00000467390, ENST00000498628, ENSP00000418915, ENSG00000147889, ENSP00000307101, ENSP00000464952, ENST00000494262, ENST00000498124, ENST00000578845, ENST00000380151, ENST00000304494, ENSP00000467857, ENSP00000369496

PRO

P42771

Orphanet

15426

PDB

1A5E, 1BI7, 1DC2, 2A5E

Interactors (11)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P11802 CDK4	3	CDK4 [nucleoplasm] (R-HSA-113843) p-T172-CDK4 [nucleoplasm] (R-HSA-113830) CDK4 [cytosol] (R-HSA-68330)	0.948	15
UniProt:Q00534 CDK6	3	CDK6 [nucleoplasm] (R-HSA-141283) CDK6 [cytosol] (R-HSA-68336) p-T177-CDK6 [nucleoplasm] (R-HSA-69628)	0.934	15
UniProt:P12004 PCNA	5	K63polyUb-K164-PCNA [nucleoplasm] (R-HSA-8943000) SUMO1-K164,K254,K-PCNA [nucleoplasm] (R-HSA-4615861) ISG-K164,ISG-K168-PCNA [nucleoplasm] (R-HSA-5653768) MonoUb-K164-PCNA [nucleoplasm] (R-HSA-5651986) PCNA [nucleoplasm] (R-HSA-68439)	0.61	8
UniProt:P02730 SLC4A1	8	SLC4A1 G701D [plasma membrane] (R-HSA-5657836) SLC4A1 R589H [plasma membrane] (R-HSA-5657833) SLC4A1 [plasma membrane] (R-HSA-420408) SLC4A1 V850del [plasma membrane] (R-HSA-5657828) SLC4A1 V488M [plasma membrane] (R-HSA-5657845) SLC4A1 R589C [plasma membrane] (R-HSA-5657843) SLC4A1 S613F [plasma membrane] (R-HSA-5657854) SLC4A1 E90K [plasma membrane] (R-HSA-5657855)	0.602	5
UniProt:Q6UXH1 CREL2			0.508	2
UniProt:Q8NHU6 TDRD7			0.508	2
UniProt:O75398 DEAF1			0.508	2
UniProt:Q00839 HNRNPU	1	HNRNPU [nucleoplasm] (R-HSA-71953)	0.508	2
UniProt:Q14566 MCM6	1	MCM6 [nucleoplasm] (R-HSA-68553)	0.499	4
UniProt:P24385 CCND1	4	CCND1 [cytosol] (R-HSA-68328) CCND1 [nucleoplasm] (R-HSA-113832) p-T286-CCND1 [cytosol] (R-HSA-75813) p-T286-CCND1 [nucleoplasm] (R-HSA-75811)	0.491	2
UniProt:P62826 RAN	2	RAN [cytosol] (R-HSA-165540) RAN [nucleoplasm] (R-HSA-165528)	0.463	2

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