p16INK4A R99P [cytosol]

Stable Identifier
R-HSA-9632531
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
p16INK4A Arg99Pro, CDKN2A R99P, CDKN2A Arg99Pro
Icon
p16INK4A R99P [cytosol] icon
p16INK4A R99P [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
23190892 Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions

Jenkins, NC, Jung, J, Liu, T, Wilde, M, Holmen, SL, Grossman, D

J. Invest. Dermatol. 2013
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
External Reference Information
External Reference
UniProt:P42771 CDKN2A
Gene Names
CDKN2A, CDKN2, 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
KEGG Gene (Homo sapiens):1029 CDKN2A
Monarch:1029 CDKN2A
NCBI Gene:1029 CDKN2A
OMIM:600160 CDKN2A
UCSC:P42771 CDKN2A
Reference Transcript
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
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
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 Y44* [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 Y44fs*1 [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 R24P [cytosol]
p16INK4A R80P [cytosol]
p16INK4A G35A [cytosol]
p16INK4A E88K [cytosol]
p16INK4A T77P [cytosol]
p16INK4A L97R [cytosol]
p16INK4A T18_A19dup [cytosol]
p16INK4A G67_N71del [cytosol]
p16INK4A A60R [cytosol]
p16INK4A D74Y [cytosol]
p16INK4A A60V [cytosol]
p16INK4A R112_L113insR [cytosol]
p16INK4A A60S [cytosol]
p16INK4A L97P [cytosol]
p16INK4A G23S [cytosol]
p16INK4A A60E [cytosol]
p16INK4A G23V [cytosol]
p16INK4A G35R [cytosol]
p16INK4A T77S [cytosol]
p16INK4A [cytosol]
p16INK4A G35E [cytosol]
p16INK4A G35W [cytosol]
Modified Residues
Name
L-arginine 99 replaced with L-proline
Coordinate
99
PsiMod
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
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
lung adenocarcinoma DOID:3910 nonsmall cell adenocarcinoma
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
RefSeq
Target Pathogen
COSMIC
OpenTargets
GeneCards
Ensembl
PRO
Orphanet
PDB
Interactors (11)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P11802 CDK4  3 0.952 16
 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
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