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p14ARF R90H [cytosol]
Stable Identifier
R-HSA-9645755
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
CDKN2A-4 R90H, p14ARF Arg90His, CDKN2A-4 Arg90His
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of programmed cell death (Homo sapiens)
Defective Intrinsic Pathway for Apoptosis (Homo sapiens)
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function (Homo sapiens)
p14ARF mutants do not bind C1QBP (Homo sapiens)
p14ARF LOF mutants (C1QBP) [cytosol] (Homo sapiens)
p14ARF R90H [cytosol] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
18538737
Mitochondrial p32 is a critical mediator of ARF-induced apoptosis
Itahana, K
,
Zhang, Y
Cancer Cell
2008
External Reference Information
External Reference
UniProt:Q8N726 CDKN2A
Gene Names
CDKN2A, CDKN2, MLM, MTS1
Chain
chain:1-132
Reference Genes
BioGPS Gene:1029 CDKN2A
COSMIC (genes):CDKN2A CDKN2A
CTD Gene:1029 CDKN2A
dbSNP Gene:1029 CDKN2A
ENSEMBL:ENSG00000147889 CDKN2A
ENSEMBL_homo_sapiens_GENE:ENSG00000147889.18 CDKN2A
Monarch:1029 CDKN2A
NCBI Gene:1029 CDKN2A
OMIM:600160 CDKN2A
UCSC:Q8N726 CDKN2A
Reference Transcript
RefSeq:NM_058195.3 CDKN2A
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
3201444
3201445
3201446
3201447
3201448
3201457
3201458
3201459
3201460
3201480
3201481
73132_r_at
8160441
A_23_P43484
A_23_P43490
A_33_P3411628
GE59038
GO:0000209
GO:0000278
GO:0002039
GO:0002376
GO:0003677
GO:0003824
GO:0005515
GO:0005634
GO:0005654
GO:0005730
GO:0005739
GO:0005759
GO:0005829
GO:0006351
GO:0006355
GO:0006364
GO:0006469
GO:0006886
GO:0006913
GO:0006915
GO:0006919
GO:0007005
GO:0007049
GO:0007155
GO:0008285
GO:0008637
GO:0010389
GO:0010628
GO:0012501
GO:0016604
GO:0016740
GO:0016925
GO:0019789
GO:0023052
GO:0030154
GO:0030163
GO:0030575
GO:0030889
GO:0031647
GO:0031648
GO:0032991
GO:0033088
GO:0033235
GO:0034504
GO:0036211
GO:0042254
GO:0043065
GO:0043226
GO:0043517
GO:0045893
GO:0045944
GO:0046825
GO:0048103
GO:0048856
GO:0050821
GO:0051444
GO:0051726
GO:0055105
GO:0061629
GO:0070534
GO:0090398
GO:0097371
GO:0097718
GO:0098772
GO:0140096
GO:1900182
GO:1901798
GO:1902510
GO:1902570
GO:1904667
GO:1990000
GO:1990948
GO:2000059
GO:2000435
HMNXSV003019577
ILMN_1717714
ILMN_1744295
U26727_at
g1353569_3p_a_at
g1353569_3p_x_at
g4206166_3p_a_at
g4502748_3p_at
Participates
as a member of
p14ARF LOF mutants (C1QBP) [cytosol] (Homo sapiens)
Other forms of this molecule
p14ARF [nucleoplasm]
p14ARF [cytosol]
p14ARF [mitochondrial matrix]
p14ARF R98L;R99S [cytosol]
p14ARF R82C [cytosol]
p14ARF R88Q [cytosol]
p14ARF R87C [cytosol]
p14ARF R81G [cytosol]
p14ARF R98Q [cytosol]
p14ARF R99C [cytosol]
p14ARF V22Pfs*46 [cytosol]
Modified Residues
Name
L-arginine 90 replaced with L-histidine
Coordinate
90
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
Cross References
RefSeq
NP_478102.2
OpenTargets
ENSG00000147889
GeneCards
Q8N726
Ensembl
ENSG00000147889
,
ENST00000579755
,
ENSP00000432664
,
ENSP00000462950
,
ENST00000530628
PRO
Q8N726
Pharos - Targets
Q8N726
Interactors (13)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q00987 MDM2
11
PolyUb-MDM2 [nucleoplasm]
(R-HSA-6782472)
monoSUMO1-K182-MDM2 [nucleoplasm]
(R-HSA-3000408)
MDM2 [plasma membrane]
(R-HSA-416843)
MDM2 [endocytic vesicle membrane]
(R-HSA-416849)
p-5S,T-MDM2 [nucleoplasm]
(R-HSA-6804954)
PolyUb,p-S166,S188-MDM2 [nucleoplasm]
(R-HSA-6795669)
p-S166,S188,T218-MDM2 [nucleoplasm]
(R-HSA-6792862)
MDM2 [nucleoplasm]
(R-HSA-69486)
MDM2 [cytosol]
(R-HSA-198644)
p-S166,S188-MDM2 [cytosol]
(R-HSA-198638)
p-S166,S188-MDM2 [nucleoplasm]
(R-HSA-6793669)
0.813
5
UniProt:Q7Z6Z7 HUWE1
4
HUWE1 [secretory granule lumen]
(R-HSA-6801481)
HUWE1 [extracellular region]
(R-HSA-6806466)
HUWE1 [ficolin-1-rich granule lumen]
(R-HSA-6801467)
HUWE1 [cytosol]
(R-HSA-975983)
0.677
5
IntAct:EBI-4399559 UBIQ
0.667
3
UniProt:Q8TAQ5 ZNF420
2
p-S68-ZNF420 [nucleoplasm]
(R-HSA-6799095)
ZNF420 [nucleoplasm]
(R-HSA-1247509)
0.644
8
UniProt:P04637 TP53
20
Unfolded TP53 [cytosol]
(R-HSA-6813797)
TP53 [cytosol]
(R-HSA-8869337)
PolyUb-TP53 [nucleoplasm]
(R-HSA-6782509)
polySUMO2,3-K386-TP53 [nucleoplasm]
(R-HSA-2997661)
TP53 F341C [nucleoplasm]
(R-HSA-9726318)
TP53 G334V [nucleoplasm]
(R-HSA-9726126)
TP53 L330H [nucleoplasm]
(R-HSA-9726124)
TP53 A347T [nucleoplasm]
(R-HSA-9726339)
TP53 R337C [nucleoplasm]
(R-HSA-9726118)
TP53 L344P [nucleoplasm]
(R-HSA-9726075)
TP53 L344R [nucleoplasm]
(R-HSA-9726073)
TP53 R337H [nucleoplasm]
(R-HSA-9726169)
TP53 R337P [nucleoplasm]
(R-HSA-9726168)
TP53 L330P [nucleoplasm]
(R-HSA-9726136)
TP53 L348S [nucleoplasm]
(R-HSA-9726366)
TP53 R337L [nucleoplasm]
(R-HSA-9726163)
TP53 K351E [nucleoplasm]
(R-HSA-9726258)
TP53 F338I [nucleoplasm]
(R-HSA-9726358)
TP53 R342P [nucleoplasm]
(R-HSA-9726101)
TP53 L330R [nucleoplasm]
(R-HSA-9726133)
0.623
3
UniProt:Q9UER7 DAXX
13
monoSUMO1-K630,K631-DAXX [nucleoplasm]
(R-HSA-4086086)
DAXX L98Vfs*13 [nucleoplasm]
(R-HSA-9673102)
DAXX R48Vfs*93 [nucleoplasm]
(R-HSA-9673103)
DAXX C74* [nucleoplasm]
(R-HSA-9673096)
DAXX S138* [nucleoplasm]
(R-HSA-9673081)
DAXX H26Tfs*118 [nucleoplasm]
(R-HSA-9673114)
DAXX E104* [nucleoplasm]
(R-HSA-9673078)
DAXX E72Nfs*72 [nucleoplasm]
(R-HSA-9673110)
DAXX C106* [nucleoplasm]
(R-HSA-9673079)
DAXX A103Sfs*40 [nucleoplasm]
(R-HSA-9673121)
DAXX K56* [nucleoplasm]
(R-HSA-9673089)
DAXX A36Qfs*108 [nucleoplasm]
(R-HSA-9673105)
DAXX [nucleoplasm]
(R-HSA-3222068)
0.611
8
UniProt:Q14669 TRIP12
1
TRIP12 [cytosol]
(R-HSA-976046)
0.602
4
UniProt:P06748 NPM1
11
monoSUMO1-K263-NPM1 [nucleoplasm]
(R-HSA-4086039)
polySUMO2,3-K263-NPM1 [nucleoplasm]
(R-HSA-4086056)
NPM1(1-117)-p-7Y-ALK(1058-1620) fusion [nucleoplasm]
(R-HSA-9725010)
NPM1(1-117)-p-7Y-ALK(1068-1620) fusion [cytosol]
(R-HSA-9730703)
NPM1(1-117)-ALK(1068-1620) fusion [cytosol]
(R-HSA-9730697)
NPM1(1-117)-p-7Y-ALK(1058-1620) fusion [cytosol]
(R-HSA-9699861)
NPM1(1-117)-ALK(1058-1620) fusion [cytosol]
(R-HSA-9699834)
NPM1 [granular component]
(R-HSA-9017702)
NPM1 [nucleoplasm]
(R-HSA-606320)
NPM1 [cytosol]
(R-HSA-3008211)
p-S4-NPM1 [cytosol]
(R-HSA-6801679)
0.564
2
UniProt:Q07021 C1QBP
3
C1QBP [cytosol]
(R-HSA-9645690)
C1QBP [mitochondrial matrix]
(R-HSA-9645697)
C1QBP [plasma membrane]
(R-HSA-158123)
0.556
3
UniProt:P04198 MYCN
1
MYCN [nucleoplasm]
(R-HSA-452357)
0.556
3
UniProt:P08047 SP1
1
SP1 [nucleoplasm]
(R-HSA-1592223)
0.544
4
UniProt:Q8AZK7 EBNA5
0.543
5
UniProt:P18146 EGR1
1
EGR1 [nucleoplasm]
(R-HSA-1031703)
0.524
4
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