Reactome | p16INK4A G35W [cytosol]

p16INK4A G35W [cytosol]

Stable Identifier

R-HSA-9631328

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

p16INK4A Gly35Trp, CDKN2A G35W, CDKN2A Gly35Trp

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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 G35W [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 G35W [cytosol] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
24659262	CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment Menin, C, Agata, S, Ghiorzo, P, Quaggio, M, Bianchi-Scarrà, G, Zullato, D, Pastorino, L, Minervini, G, Elefanti, L, Scaini, MC, Montagna, M, Tognazzo, S, Tosatto, SC, D'Andrea, E	Hum. Mutat.	2014

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:ENSG00000147889.18 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_PM_at

207039_at

209644_PM_x_at

209644_x_at

211156_PM_at

211156_at

3201444

3201445

3201446

3201447

3201448

3201450

3201451

3201457

3201458

3201459

3201460

3201461

3201464

3201465

3201466

3201467

3201477

3201478

3201483

3201485

73132_r_at

8160441

A_23_P43484

A_23_P43490

A_33_P3411628

GE59038

GO:0000079

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:0006351

GO:0006355

GO:0007049

GO:0007155

GO:0007265

GO:0007568

GO:0008134

GO:0008150

GO:0008285

GO:0012501

GO:0016301

GO:0016310

GO:0019899

GO:0019901

GO:0023052

GO:0030234

GO:0030308

GO:0032088

GO:0034393

GO:0035985

GO:0036211

GO:0042326

GO:0043226

GO:0045736

GO:0045892

GO:0051059

GO:0051726

GO:0090398

GO:0090399

GO:2000045

GO:2000111

HMNXSV003019577

ILMN_1717714

ILMN_1757255

PH_hs_0019731

U26727_at

g1353569_3p_a_at

g1353569_3p_x_at

g4206166_3p_a_at

g4502748_3p_at

Participates

as a candidate of

p16INK4A LoF mutants (CDK4) [cytosol] (Homo sapiens)

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 R99P [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]

Modified Residues

Name

glycine 35 replaced with L-tryptophan

Coordinate

PsiMod

L-tryptophan residue [MOD:00027]

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

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

Disease

Name	Identifier	Synonyms
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
lung squamous cell carcinoma	DOID:3907	squamous cell carcinoma of lung (disorder), Epidermoid cell carcinoma of the lung

Cross References

RefSeq

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

COSMIC

COSV58712281

OpenTargets

ENSG00000147889

GeneCards

P42771

Ensembl

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

PRO

P42771

Pharos - Targets

P42771

Orphanet

15426

PDB

1DC2, 2A5E, 1A5E, 1BI7

Interactors (12)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P11802 CDK4	3	CDK4 [cytosol] (R-HSA-68330) p-T172-CDK4 [nucleoplasm] (R-HSA-113830) CDK4 [nucleoplasm] (R-HSA-113843)	0.955	17
UniProt:Q00534 CDK6	3	CDK6 [cytosol] (R-HSA-68336) CDK6 [nucleoplasm] (R-HSA-141283) p-T177-CDK6 [nucleoplasm] (R-HSA-69628)	0.94	16
UniProt:P12004 PCNA	5	monoSUMO1-K164,K254,K-PCNA [nucleoplasm] (R-HSA-4615861) K63polyUb-K164-PCNA [nucleoplasm] (R-HSA-8943000) 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 R589H [plasma membrane] (R-HSA-5657833) SLC4A1 G701D [plasma membrane] (R-HSA-5657836) SLC4A1 E90K [plasma membrane] (R-HSA-5657855) 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)	0.602	5
UniProt:O75496 GMNN	2	GMNN [nucleoplasm] (R-HSA-113554) PolyUb-GMNN [nucleoplasm] (R-HSA-68585)	0.592	2
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 [nucleoplasm] (R-HSA-113832) CCND1 [cytosol] (R-HSA-68328) p-T286-CCND1 [nucleoplasm] (R-HSA-75811) p-T286-CCND1 [cytosol] (R-HSA-75813)	0.491	2
UniProt:P62826 RAN	2	RAN [nucleoplasm] (R-HSA-165528) RAN [cytosol] (R-HSA-165540)	0.463	2

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