p16INK4A R24P [cytosol]

Stable Identifier
R-HSA-9630828
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
p16INK4A Arg24Pro
Icon
p16INK4A R24P [cytosol] icon
p16INK4A R24P [cytosol] icon
Locations in the PathwayBrowser
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General

p16INK4A R24P mutant is produced by a missense mutation in the CDKN2A gene that leads to substution of arginine with proline at position 24. This mutation occurs in the first exon of p16INK4A and therefore does not affect p14ARF. p16INK4A R24P is unable to bind to CDK4 but retains the ability to bind to CDK6 and is therefore partially functional (Harland et al. 1997, Becker et al. 2001, Jones et al. 2007).

Literature References
PubMed ID Title Journal Year
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
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
17909018 A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6

Jones, R, Ruas, M, Gregory, F, Moulin, S, Delia, D, Manoukian, S, Rowe, J, Brookes, S, Peters, G

Cancer Res. 2007
11595726 Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding

Becker, TM, Rizos, H, Kefford, RF, Mann, GJ

Clin. Cancer Res. 2001
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
18232
1A5E
1BI7
1DC2
207039_at
209644_x_at
211156_at
2A5E
3201444
3201445
3201446
3201447
3201448
3201450
3201451
3201457
3201458
3201459
3201460
3201461
3201464
3201465
3201466
3201467
3201468
3201469
3201470
3201477
3201478
3201483
3201485
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
EntrezGene:CDKN2A
g1353569_3p_a_at
g1353569_3p_x_at
g4206166_3p_a_at
g4502748_3p_at
GE59038
GO:0000082
GO:0000278
GO:0001953
GO:0003674
GO:0003723
GO:0004861
GO:0005515
GO:0005575
GO:0005622
GO:0005623
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
HGNC:1787
ILMN_1717714
ILMN_1757255
IPR020683
IPR036770
J3QRG6
JQ694043
JQ694044
JQ694045
K7ENC6
K7ES20
K7PML8
L27211
LRG_11
LRG_11t1
MIM:155601
MIM:155755
MIM:600160
MIM:606719
NM_000077
NM_001195132
NM_001363763
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
XP_005251400
Participant Of
hasMember
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 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 R99P [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]
Modified Residues
Name
L-arginine 24 replaced with L-proline
Coordinate
24
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
lung adenocarcinoma 3910 nonsmall cell adenocarcinoma
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
oral squamous cell carcinoma 0050866 mouth squamous cell carcinoma
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
sarcoma 1115 tumor of soft tissue and skeleton, connective and soft tissue neoplasm
cancer 162 malignant tumor, malignant neoplasm, primary cancer
acute myeloid leukemia 9119 Leukemia, Myelocytic, acute, acute myeloblastic leukemia, acute myelogenous leukemia, AML - acute Myeloid Leukemia
astrocytoma 3069 astrocytoma of Cerebrum, Astrocytic tumor, astrocytoma of brain (disorder), astroglioma, astrocytoma, no ICD-O subtype (morphologic abnormality), cerebral astrocytoma
Cross References
RefSeq
COSMIC
OpenTargets
GeneCards
PRO
Orphanet
PDB
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: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