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
24659262 CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment

Scaini, MC, Minervini, G, Elefanti, L, Ghiorzo, P, Pastorino, L, Tognazzo, S, Agata, S, Quaggio, M, Zullato, D, Bianchi-ScarrĂ , G, Montagna, M, D'Andrea, E, Menin, C, Tosatto, SC

Hum. Mutat. 2014
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
20340136 Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A

McKenzie, HA, Fung, C, Becker, TM, Irvine, M, Mann, GJ, Kefford, RF, Rizos, H

Hum. Mutat. 2010
19712690 Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation

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

Mutat. Res. 2009
External Reference Information
External Reference
Gene Names
CDKN2A, CDKN2, MTS1
Chain
chain:1-156
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
Other forms of this molecule
Modified Residues
Name
glycine 23 replaced with L-aspartic acid
Coordinate
23
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
hepatocellular carcinoma 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
non-small cell lung carcinoma 3908 Non-small cell lung cancer (disorder), NSCLC, NSCLC
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
cancer 162 malignant tumor, malignant neoplasm, primary cancer
pancreatic ductal adenocarcinoma 3498 ductal adenocarcinoma of the pancreas
larynx cancer 2596
Interactors (11)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P11802 CDK4  3 0.948 15
 UniProt:Q00534 CDK6  3 0.934 15
 UniProt:P12004 PCNA  5 0.61 8
 UniProt:P02730 SLC4A1  8 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 0.508 2
 UniProt:Q14566 MCM6  1 0.499 4
 UniProt:P24385 CCND1  4 0.491 2
 UniProt:P62826 RAN  2 0.463 2
Cite Us!