p16INK4A G23D [cytosol]

Stable Identifier
R-HSA-9630892
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
p16INK4A Gly23Asp, CDKN2A G23D, CDKN2A Gly23Asp
p16INK4A G23D [cytosol] icon
Locations in the PathwayBrowser
General
p16INK4A G23D mutant is produced by a missense mutation in the CDKN2A gene that lead to substitution of glycine with aspartic acid residue at position 23. This mutation occurs in the first exon of p16INK4A and therefore does not affect p14ARF. p16INK4A G23D mutant shows a reduced ability to bind to CDK4 and prevent CDK4-mediated phosphorylation of RB1 (Scaini et al. 2009)
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-ScarrĂ , 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
19712690 Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation

Callegaro, M, Menin, C, Agata, S, Quaggio, M, Zullato, D, Chiarion-Sileni, V, Vecchiato, A, Scaini, MC, Montagna, M, Malacrida, S, Casella, C, Mann, GJ, D'Andrea, E, Rossi, E, Alaibac, M, de Siqueira Torres, PL

Mutat. Res. 2009
External Reference Information
External Reference
Gene Names
CDKN2A, CDKN2, MLM, MTS1
Chain
chain:1-156
Other Identifiers
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:0000278
GO:0001953
GO:0003723
GO:0003824
GO:0004861
GO:0005515
GO:0005634
GO:0005694
GO:0005737
GO:0005829
GO:0006351
GO:0006355
GO:0007049
GO:0007155
GO:0007265
GO:0008285
GO:0012501
GO:0016301
GO:0016310
GO:0016740
GO:0019901
GO:0023052
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:0098772
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
Other forms of this molecule
Modified Residues
Name
glycine 23 replaced with L-aspartic acid
Coordinate
23
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
non-small cell lung carcinoma DOID:3908 Non-small cell lung cancer (disorder), NSCLC, NSCLC
hepatocellular carcinoma DOID:684 adult Hepatoma, adult primary Liver carcinoma, Liver carcinoma, Hepatocellular carcinoma (morphologic abnormality), primary carcinoma of liver (disorder), hepatoma, Hepatoma, adult primary hepatocellular carcinoma, primary carcinoma of the liver cells, Hepatocellular carcinoma (clinical), Liver carcinoma, HCC, carcinoma of liver, specified as primary
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
pancreatic ductal adenocarcinoma DOID:3498 ductal adenocarcinoma of the pancreas
larynx cancer DOID:2596
Interactors (12)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P11802 CDK4  3 0.955 17
 UniProt:Q00534 CDK6  3 0.94 16
 UniProt:P12004 PCNA  5 0.61 8
 UniProt:P02730 SLC4A1  8 0.602 5
 UniProt:O75496 GMNN  2 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 0.508 2
 UniProt:Q14566 MCM6  1 0.499 4
 UniProt:P24385 CCND1  4 0.491 2
 UniProt:P62826 RAN  2 0.463 2
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