Reactome | p16INK4A G35A [cytosol]

p16INK4A G35A [cytosol]

Stable Identifier

R-HSA-9631306

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

p16INK4A Gly35Ala, CDKN2A G35A, CDKN2A Gly35Ala

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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 G35A [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 G35A [cytosol] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
19260062	Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients Lenoir, GM, Kannengiesser, C, Brookes, S, Chompret, A, Pham, D, Barrois, M, Mauffret, O, Sarasin, A, del Arroyo, AG, Bombled, J, Avril, MF	Hum. Mutat.	2009
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
20340136	Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A Mann, GJ, Becker, TM, Rizos, H, McKenzie, HA, Kefford, RF, Fung, C, Irvine, M	Hum. Mutat.	2010

External Reference Information

External Reference

UniProt:P42771 CDKN2A

Gene Names

CDKN2A, CDKN2, MLM, 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

HGNC:1787 CDKN2A

KEGG:hsa:1029 CDKN2A

Monarch:1029 CDKN2A

NCBI Gene:1029 CDKN2A

OMIM:600160 CDKN2A

UCSC:P42771 CDKN2A

Reference Transcript

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: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:0006355

GO:0006364

GO:0006915

GO:0006919

GO:0007005

GO:0007265

GO:0008285

GO:0008637

GO:0010628

GO:0012501

GO:0016604

GO:0016740

GO:0016925

GO:0019789

GO:0019901

GO:0030308

GO:0030575

GO:0030889

GO:0031647

GO:0031648

GO:0032088

GO:0032991

GO:0033088

GO:0033235

GO:0034393

GO:0034504

GO:0035985

GO:0042326

GO:0043065

GO:0043226

GO:0043517

GO:0045736

GO:0045892

GO:0045893

GO:0045944

GO:0046825

GO:0048103

GO:0050821

GO:0051059

GO:0051444

GO:0051726

GO:0055105

GO:0061629

GO:0070534

GO:0090398

GO:0090399

GO:0097371

GO:0097718

GO:0098772

GO:0140096

GO:1900182

GO:1901798

GO:1902510

GO:1902570

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 a member 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 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 Y44* [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 [cytosol]

p16INK4A G35E [cytosol]

p16INK4A G35W [cytosol]

p16INK4A T77S [cytosol]

p16INK4A G35R [cytosol]

p16INK4A G23V [cytosol]

p16INK4A A60E [cytosol]

p16INK4A G23S [cytosol]

p16INK4A L97P [cytosol]

p16INK4A A60S [cytosol]

p16INK4A R99P [cytosol]

p16INK4A R112dup [cytosol]

p16INK4A A60V [cytosol]

p16INK4A D74Y [cytosol]

p16INK4A A60R [cytosol]

p16INK4A G67_N71del [cytosol]

p16INK4A T18_A19dup [cytosol]

p16INK4A L97R [cytosol]

p16INK4A T77P [cytosol]

p16INK4A E88K [cytosol]

p16INK4A R80P [cytosol]

p16INK4A R24P [cytosol]

Modified Residues

Name

glycine 35 replaced with L-alanine

Coordinate

PsiMod

L-alanine residue [MOD:00010]

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

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

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
acute lymphocytic leukemia	DOID:9952
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

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

COSMIC

COSV58690595

OpenTargets

ENSG00000147889

ENSEMBL

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

PRO

P42771

Pharos - Targets

P42771

GlyGen

P42771

Orphanet

CDKN2A

PDB

2A5E, 1DC2, 1BI7, 7OZT, 1A5E

Interactors (12)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P11802 CDK4	3	p-T172-CDK4 [nucleoplasm] (R-HSA-113830) CDK4 [nucleoplasm] (R-HSA-113843) CDK4 [cytosol] (R-HSA-68330)	0.96	19
UniProt:Q00534 CDK6	3	p-T177-CDK6 [nucleoplasm] (R-HSA-69628) CDK6 [nucleoplasm] (R-HSA-141283) CDK6 [cytosol] (R-HSA-68336)	0.949	19
UniProt:P12004 PCNA	5	PCNA [nucleoplasm] (R-HSA-68439) MonoUb-K164-PCNA [nucleoplasm] (R-HSA-5651986) ISG-K164,ISG-K168-PCNA [nucleoplasm] (R-HSA-5653768) K63polyUb-K164-PCNA [nucleoplasm] (R-HSA-8943000) monoSUMO1-K164,K254,K-PCNA [nucleoplasm] (R-HSA-4615861)	0.61	8
UniProt:P02730 SLC4A1	8	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) SLC4A1 G701D [plasma membrane] (R-HSA-5657836) SLC4A1 R589H [plasma membrane] (R-HSA-5657833)	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:Q00839 HNRNPU	1	HNRNPU [nucleoplasm] (R-HSA-71953)	0.508	2
UniProt:Q8NHU6 TDRD7			0.508	2
UniProt:O75398 DEAF1			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 [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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