p16INK4A M53I [cytosol]

Stable Identifier
R-HSA-9630911
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
p16INK4A Met53Ile, CDKN2A M53I, CDKN2A Met53Ile
p16INK4A M53I [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
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
10389768 Functional reassessment of P16 variants using a transfection-based assay

Walker, GJ, Gabrielli, BG, Castellano, M, Hayward, NK

Int. J. Cancer 1999
9328469 Germline mutations of the CDKN2 gene in UK melanoma families

Harland, M, Meloni, R, Gruis, N, Pinney, E, Brookes, S, Spurr, NK, Frischauf, AM, Bataille, V, Peters, G, Cuzick, J, Selby, P, Bishop, DT, Bishop, JN

Hum. Mol. Genet. 1997
External Reference Information
External Reference
Gene Names
CDKN2A, CDKN2, MTS1
Chain
chain:1-156
Other Identifiers
0002570204
0005130288
1029
11718293_a_at
1713_s_at
18232
1A5E
1BI7
1DC2
207039_at
209644_x_at
211156_at
2A5E
3201447
3201448
3201450
3201451
3201457
3201458
3201459
3201460
3201461
3201464
3201465
3201466
3201467
3201477
3201478
3201483
445
73132_r_at
8160441
93
A_23_P43484
A_23_P43490
A_33_P3411628
AAA92554
AAB60645
AAD11437
AAD14048
AAD14050
AAR05391
AB060808
ABC47036
AF115544
AF527803
AFN61598
AFN61599
AFN61600
AH007355
AL449423
BAB91133
CAA63870
CAB000093
CAB000445
CAB018232
CCDS56565
CCDS6510
CCDS87644
CDKN2A
CDKN2A-201
CDKN2A-203
CDKN2A-206
CDKN2A-208
CDKN2A-209
CDKN2A-212
CH471071
DQ318021
EAW58598
EAW58599
EAW58603
ENSG00000147889
ENSP00000307101
ENSP00000369496
ENSP00000418915
ENSP00000464952
ENSP00000467390
ENSP00000467857
ENST00000304494
ENST00000304494.9
ENST00000380151
ENST00000380151.3
ENST00000494262
ENST00000494262.5
ENST00000498124
ENST00000498124.1
ENST00000498628
ENST00000498628.6
ENST00000578845
ENST00000578845.2
EntrezGene:1029
g1353569_3p_a_at
g1353569_3p_x_at
g4206166_3p_a_at
g4502748_3p_at
GE59038
GO:0000082
GO:0001953
GO:0003674
GO:0003723
GO:0004861
GO:0005515
GO:0005575
GO:0005634
GO:0005737
GO:0005829
GO:0006950
GO:0007049
GO:0007050
GO:0007165
GO:0007265
GO:0007568
GO:0008134
GO:0008150
GO:0008285
GO:0016301
GO:0016310
GO:0019899
GO:0019901
GO:0022607
GO:0030234
GO:0030308
GO:0032088
GO:0034393
GO:0035985
GO:0035986
GO:0042326
GO:0043226
GO:0045736
GO:0045892
GO:0051059
GO:0090398
GO:0090399
GO:2000111
GO:2000134
GO:2000774
HGNC:1787
ILMN_1717714
ILMN_1757255
IPR020683
IPR036770
J3QRG6
JQ694043
JQ694044
JQ694045
K7ENC6
K7ES20
K7PML8
L27211
LRG_11
MIM:155601
MIM:155755
MIM:600160
MIM:606719
NM_000077
NM_001195132
NM_058197
NP_000068
NP_001182061
NP_001350692
NP_478104
PH_hs_0019731
Q8N726
S69804
U12818
U12819
U12820
U26727_at
UPI0000047FDA
UPI000014576F
UPI000036760F
UPI0001565711
X94154
XM_005251343
XM_011517679
XP_005251400
XP_011515981
Participant Of
Other forms of this molecule
Modified Residues
Name
L-methionine 53 replaced with L-isoleucine
Coordinate
53
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
A protein modification that effectively removes or replaces an L-methionine.
Disease
Name Identifier Synonyms
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
bladder carcinoma 4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
thyroid carcinoma 3963 head and neck cancer, Thyroid
cancer 162 malignant tumor, malignant neoplasm, primary cancer
breast cancer 1612 malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
bile duct carcinoma 4897
Cross References
COSMIC
OpenTargets
GeneCards
PRO
Orphanet
PDB
Interactors (11)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P11802 CDK4  3 0.944 14
 UniProt:Q00534 CDK6  3 0.907 14
 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