p16INK4A G23D [cytosol]

Stable Identifier
R-HSA-9630892
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
p16INK4A Gly23Asp, CDKN2A G23D, CDKN2A Gly23Asp
Icon
p16INK4A G23D [cytosol] icon
p16INK4A G23D [cytosol] icon
Locations in the PathwayBrowser
Expand all
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-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
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
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
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 [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 G35A [cytosol]
p16INK4A R80P [cytosol]
p16INK4A R24P [cytosol]
Modified Residues
Name
glycine 23 replaced with L-aspartic acid
Coordinate
23
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-aspartic acid residue [MOD:00013]
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
Cross References
RefSeq
COSMIC
OpenTargets
ENSEMBL
PRO
Pharos - Targets
GlyGen
Orphanet
PDB
Interactors (12)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P11802 CDK4  3 0.96 19
 UniProt:Q00534 CDK6  3 0.949 19
 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:Q00839 HNRNPU  1 0.508 2
 UniProt:Q8NHU6 TDRD7      0.508 2
 UniProt:O75398 DEAF1      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!