Descriptions

(Annotation based on sequence homology with P31751)
Akt is a serine/threonine kinase that belongs to a group of proteins called the AGC superfamily. It is involved in various biological responses through the phosphatidylinositol 3-kinase (PI3K) signal transduction pathway. Akt2, in particular, is regulated by different regions of the protein.
The N-terminal PH domain of Akt2 plays a regulatory role in its activation. Phosphorylation of Ser474 in the C-terminal regulatory domain is also necessary for full activation of Akt2. These modifications help activate the kinase and enable it to carry out its functions.
The linker region between the N-lobe and C-lobe of Akt2 occupies the ATP binding site. Additionally, the activation loop within Akt2 aids in autoinhibition by blocking the binding of peptide substrates, while still allowing access to the ATP binding site.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

239-262 (Activation loop from InterPro)

Target domain

98-355 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

5 structures for O00141

Entry ID Method Resolution Chain Position Source
2R5T X-ray 190 A A 60-431 PDB
3HDM X-ray 260 A A 60-431 PDB
3HDN X-ray 310 A A 60-431 PDB
7PUE X-ray 251 A A 60-431 PDB
AF-O00141-F1 Predicted AlphaFoldDB

327 variants for O00141

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000984130
rs1171390403
CA365725596
365 N>S Multiple myeloma [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs772631179
CA4009736
2 T>K No ClinGen
ExAC
gnomAD
rs746423391
CA4009735
4 K>E No ClinGen
ExAC
gnomAD
rs1484154404
CA365728227
4 K>N No ClinGen
gnomAD
CA365728230
rs1203352641
4 K>R No ClinGen
gnomAD
CA4009734
rs779318781
5 T>A No ClinGen
ExAC
TOPMed
gnomAD
COSM220576
rs1199671834
CA365728222
5 T>I haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs757603367
CA4009733
6 E>D No ClinGen
ExAC
gnomAD
TCGA novel 6 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1276580422
CA365728213
7 A>T No ClinGen
gnomAD
CA365728195
rs1459815482
9 K>N No ClinGen
TOPMed
rs1233847136
CA365728194
10 G>S No ClinGen
gnomAD
rs1006949921
CA148088988
10 G>V No ClinGen
Ensembl
CA365728184
rs1455678759
11 T>I No ClinGen
TOPMed
gnomAD
CA4009731
rs377644080
12 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365728181
rs1411350406
12 L>P No ClinGen
gnomAD
CA4009730
rs377644080
12 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868675854
CA148088965
13 T>A No ClinGen
Ensembl
rs1264150205
CA365728167
14 Y>* No ClinGen
Ensembl
rs765862379
CA365728155
16 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA365728157
rs1414288034
16 R>T No ClinGen
TOPMed
gnomAD
CA365728134
rs1466992019
19 G>A No ClinGen
gnomAD
rs762924994
CA4009727
19 G>S No ClinGen
ExAC
gnomAD
rs1411409008
CA365728126
20 M>I No ClinGen
gnomAD
CA365728127
rs1279248030
20 M>R No ClinGen
TOPMed
CA365728122
rs954154822
21 V>L No ClinGen
gnomAD
CA148088929
rs954154822
21 V>M No ClinGen
gnomAD
rs376300142
CA365728111
23 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376300142
CA365728112
23 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376300142
CA4009726
23 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 24 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365727982
rs1363280581
26 A>G No ClinGen
gnomAD
rs1204071335
CA365728091
26 A>S No ClinGen
TOPMed
COSM3927938
COSM3927939
rs1363280581
COSM3927941
CA365727981
COSM3927940
COSM3927942
26 A>V Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA365727980
rs1274723620
27 F>I No ClinGen
gnomAD
rs1351651254
CA365727971
28 M>V No ClinGen
gnomAD
rs1304030749
CA365727960
29 K>R No ClinGen
gnomAD
rs371813326
CA4009684
30 Q>* No ClinGen
ESP
ExAC
gnomAD
rs1170253783
CA365727950
30 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1222388331
CA365727928
33 M>I No ClinGen
TOPMed
gnomAD
CA365727931
rs1449785461
33 M>T No ClinGen
gnomAD
CA365727933
rs1240287713
33 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA365727902
rs1212498503
37 D>G No ClinGen
TOPMed
CA148088634
rs144924996
38 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759597764
CA4009680
39 I>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 41 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365727865
rs1276251144
42 I>S No ClinGen
gnomAD
CA4009678
rs766612840
42 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4009677
rs763520267
43 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs147939116
CA4009675
44 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147939116
CA4009676
44 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1308402608
CA365727856
44 N>Y No ClinGen
gnomAD
CA4009674
rs748475349
45 N>H No ClinGen
ExAC
gnomAD
CA365727846
COSM1581716
rs1369891237
COSM1581715
COSM1581717
COSM1581714
COSM1581718
45 N>K haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs775140587
CA4009673
46 S>F No ClinGen
ExAC
gnomAD
CA4009669
rs770469903
47 Y>F No ClinGen
ExAC
gnomAD
CA4009670
rs370109537
47 Y>H No ClinGen
ESP
ExAC
gnomAD
CA365727833
rs1358328003
48 A>S No ClinGen
gnomAD
CA4009668
rs375777416
48 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1416089646
CA365727822
49 C>W No ClinGen
gnomAD
CA365727821
rs1425345145
50 K>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA365727818
rs777715286
50 K>R No ClinGen
ExAC
gnomAD
rs777715286
CA4009667
50 K>T No ClinGen
ExAC
gnomAD
rs1471293508
CA365727812
51 H>Y No ClinGen
gnomAD
rs748176347
CA4009647
52 P>A No ClinGen
ExAC
gnomAD
rs1348425907
CA365727779
54 V>F No ClinGen
TOPMed
CA148088024
rs754591774
55 Q>R No ClinGen
Ensembl
CA4009646
rs146718518
57 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4009645
rs754829897
59 K>N No ClinGen
ExAC
gnomAD
TCGA novel 62 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866870260
CA148088017
63 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs751679554
CA4009644
63 P>S No ClinGen
ExAC
gnomAD
TCGA novel 65 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4009643
rs780432540
65 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TCGA novel 68 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141028225
CA148088003
68 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
rs1429093341
CA365727682
69 M>K No ClinGen
gnomAD
COSM3948063
COSM3948060
COSM3948064
COSM3948062
COSM3948061
rs199799473
CA365727684
69 M>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs199799473
CA4009641
69 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA4009639
rs73560810
72 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754411255
CA365727658
CA4009638
72 N>K No ClinGen
ExAC
gnomAD
CA4009640
rs73560810
72 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1188548806
CA365727653
73 P>L No ClinGen
gnomAD
CA148087961
rs1045779430
73 P>T No ClinGen
TOPMed
gnomAD
rs1210359128 77 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 77 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA148087650
rs960203849
77 P>R No ClinGen
TOPMed
gnomAD
CA365727620
rs1582684432
COSM1161570
COSM1161569
COSM220570
COSM220571
77 P>S haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
Ensembl
CA365727612
rs1404960034
78 S>I No ClinGen
gnomAD
rs754250568
CA4009612
79 P>A No ClinGen
ExAC
gnomAD
CA365727600
rs1428257089
80 S>F No ClinGen
gnomAD
rs764674965
CA4009611
80 S>P No ClinGen
ExAC
gnomAD
rs142541423
CA148087632
82 Q>E No ClinGen
ESP
CA4009609
rs756371887
82 Q>R No ClinGen
ExAC
gnomAD
rs767930401
CA4009607
83 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA365727575
rs1414171967
84 N>S No ClinGen
TOPMed
gnomAD
rs1201698009
CA365727569
85 L>F No ClinGen
gnomAD
CA365727556
rs764600523
87 P>L No ClinGen
ExAC
gnomAD
rs764600523
CA4009604
87 P>R No ClinGen
ExAC
gnomAD
rs772880709
CA4009605
87 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA4009602
rs200398601
88 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 89 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA148087563
rs897488498
89 S>T No ClinGen
Ensembl
CA4009601
rs768634473
90 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA365727537
rs747000339
91 P>A No ClinGen
ExAC
gnomAD
rs1223620188
COSM221258
COSM221256
COSM221257
CA365727534
91 P>L Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs747000339
CA4009600
91 P>S No ClinGen
ExAC
gnomAD
rs1286115564
CA365727530
92 H>P No ClinGen
gnomAD
CA365727531
rs1327823295
92 H>Y No ClinGen
gnomAD
CA365727507
rs1411257923
95 P>L No ClinGen
gnomAD
TCGA novel 97 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775401710
CA4009599
99 H>N No ClinGen
ExAC
gnomAD
CA4009598
rs772031134
100 F>Y No ClinGen
ExAC
gnomAD
rs145458241
CA148087532
103 V>M No ClinGen
ESP
TOPMed
rs865885065
CA148087514
111 K>N No ClinGen
Ensembl
CA365727374
rs1480275168
113 L>V No ClinGen
TOPMed
CA4009579
rs774371346
115 A>V No ClinGen
ExAC
gnomAD
rs749535259
CA4009577
117 H>Q No ClinGen
ExAC
gnomAD
rs139961699
CA148087368
120 E>K No ClinGen
ESP
rs776473640 121 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 121 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1179302733
CA365727316
122 V>M No ClinGen
TOPMed
rs1357813926
CA365727299
124 Y>C No ClinGen
TOPMed
gnomAD
TCGA novel 127 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 127 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs540942171
CA4009571
130 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 133 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4009568
rs780339116
133 A>T No ClinGen
ExAC
gnomAD
CA4009567
rs756911963
133 A>V Variant assessed as Somatic; 0.0002772 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4009566
rs753470807
134 I>V No ClinGen
ExAC
gnomAD
TCGA novel 135 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316224763
CA365727207
138 K>Q No ClinGen
gnomAD
rs763656632
CA4009565
138 K>R No ClinGen
ExAC
gnomAD
TCGA novel 138 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 140 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4009550
rs758719635
141 K>M No ClinGen
ExAC
gnomAD
CA4009549
rs753483209
142 H>R No ClinGen
ExAC
gnomAD
rs777584139
CA4009548
143 I>V No ClinGen
ExAC
TCGA novel 144 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1041694995
CA148087139
145 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1426526565
CA365727129
147 R>Q No ClinGen
gnomAD
CA4009546
rs752251897
147 R>W No ClinGen
ExAC
gnomAD
TCGA novel 154 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365727078
rs1360801177
155 K>E No ClinGen
TOPMed
CA365727070
rs1582683357
156 H>N No ClinGen
Ensembl
CA365727061
rs1221791686
157 P>A No ClinGen
gnomAD
CA4009544
rs759499784
157 P>L No ClinGen
ExAC
gnomAD
rs751493243
CA4009543
158 F>L No ClinGen
ExAC
gnomAD
CA365727023
rs1442590498
163 H>R No ClinGen
TOPMed
gnomAD
CA365727025
rs1299672306
163 H>Y No ClinGen
gnomAD
CA4009542
rs766160360
167 Q>R No ClinGen
ExAC
gnomAD
CA365726972
CA4009541
rs762665720
170 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1429354855
CA365726959
172 L>W No ClinGen
gnomAD
TCGA novel 177 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369277962
CA4009539
181 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4009520
rs761992267
186 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs761992267
CA4009519
186 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA365726832
rs1284856974
189 Q>* No ClinGen
TOPMed
TCGA novel 189 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 192 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764183243
CA4009517
192 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1320954533
CA365726807
192 R>H No ClinGen
gnomAD
TCGA novel 192 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365726803
rs1312642136
193 C>R No ClinGen
gnomAD
CA4009516
COSM221197
COSM221198
rs760685664
193 C>Y haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1383459382
CA365726773
197 P>L No ClinGen
TOPMed
gnomAD
CA365726771
rs1383459382
197 P>R No ClinGen
TOPMed
gnomAD
rs775999779
CA365726768
198 R>P No ClinGen
ExAC
TOPMed
rs775999779
CA4009515
198 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs746446621
CA4009512
200 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4009511
rs368296582
200 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 200 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 201 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4009510
rs770532033
202 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 204 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 207 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365726709
rs1426890902
207 A>V No ClinGen
gnomAD
CA365726703
rs1281485901
208 S>I No ClinGen
gnomAD
rs1380565663
CA365726687
211 G>S No ClinGen
TOPMed
rs754441749
CA4009507
212 Y>H No ClinGen
ExAC
gnomAD
CA365726664
rs1477465338
214 H>L No ClinGen
TOPMed
CA365726655
rs1263929752
216 L>M No ClinGen
TOPMed
gnomAD
CA148086802
VAR_041071
rs34133418
219 V>I No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
TCGA novel 222 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 223 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150642168
CA4009483
223 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 224 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 228 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 229 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365726541
rs1320758612
230 L>P No ClinGen
gnomAD
CA4009480
COSM1073542
rs773691115
COSM1073545
COSM1073544
231 D>E endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA4009478
rs746720665
232 S>A No ClinGen
ExAC
gnomAD
CA4009479
rs746720665
232 S>T No ClinGen
ExAC
gnomAD
CA148086478
rs141890757
236 I>V No ClinGen
ESP
gnomAD
CA4009477
rs779399570
238 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs778834609
CA148086458
247 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA365726394
rs143344432
251 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365726392
rs1178929260
252 S>G No ClinGen
gnomAD
rs1480887123
CA365726390
252 S>N No ClinGen
gnomAD
TCGA novel 254 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365726373
rs1179420999
255 S>A No ClinGen
gnomAD
rs1238761044
CA365726369
255 S>C No ClinGen
TOPMed
rs752059456
CA4009466
261 P>L No ClinGen
ExAC
gnomAD
TCGA novel 263 Y>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365726294
rs1184003254
265 A>T No ClinGen
gnomAD
rs749143110
CA4009433
268 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA365726273
rs749143110
268 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA4009432
rs773226787
270 H>N No ClinGen
ExAC
gnomAD
rs747983718
CA4009430
273 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 274 Y>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365726217
rs1294342693
276 R>K No ClinGen
gnomAD
TCGA novel 277 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4009428
rs755224811
278 V>M No ClinGen
ExAC
gnomAD
CA365726179
rs1338908765
281 W>* No ClinGen
gnomAD
CA148085937
rs959120223
286 V>I No ClinGen
Ensembl
TCGA novel 287 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758571552
CA4009425
290 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA4009423
rs772928486
293 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs190276895 295 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA148085350
rs1010616694
295 P>L No ClinGen
gnomAD
CA365726069
rs1173547658
296 P>R No ClinGen
gnomAD
CA4009408
rs780434638
300 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4009407
rs780434638
300 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4009406
rs758343377
300 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4009405
rs745955657
302 T>I No ClinGen
ExAC
gnomAD
CA4009404
rs778918804
303 A>T No ClinGen
ExAC
gnomAD
CA365726025
rs1207089233
303 A>V No ClinGen
gnomAD
rs778072365
CA4009401
307 D>E No ClinGen
ExAC
CA4009402
rs569220878
307 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs569220878
CA365725998
307 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756495408
CA4009400
308 N>K No ClinGen
ExAC
gnomAD
CA365725989
rs1202079592
308 N>S No ClinGen
gnomAD
rs751156921
CA4009399
309 I>F No ClinGen
ExAC
rs766028121
CA4009398
309 I>S No ClinGen
ExAC
gnomAD
CA4009396
rs764689970
310 L>Q No ClinGen
ExAC
gnomAD
CA4009395
rs764689970
310 L>R No ClinGen
ExAC
gnomAD
CA4009392
rs78176488
311 N>K No ClinGen
ExAC
gnomAD
rs1383077781
CA365725928
318 P>A No ClinGen
TOPMed
rs1359203744
CA365725920
319 N>S No ClinGen
gnomAD
CA4009389
rs778816776
320 I>N No ClinGen
ExAC
gnomAD
CA4009390
rs768512667
320 I>V No ClinGen
ExAC
gnomAD
CA365725910
rs1406438851
321 T>A No ClinGen
gnomAD
CA148085233
rs945373246
323 S>C No ClinGen
TOPMed
CA4009387
rs772324787
324 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4009385
rs552502455
330 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1434104663
CA365725822
334 K>N No ClinGen
gnomAD
TCGA novel 334 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA148085202
rs1046343840
335 D>V No ClinGen
Ensembl
rs1362850200
CA365725800
338 K>E No ClinGen
gnomAD
rs749748729
CA4009383
339 R>Q No ClinGen
ExAC
gnomAD
rs770948952
CA4009384
339 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1286257956
CA365725788
340 L>F No ClinGen
gnomAD
CA365725780
rs1244978635
341 G>A No ClinGen
TOPMed
rs1582679491
CA365725784
341 G>R No ClinGen
Ensembl
rs55932330
CA148085184
VAR_041072
342 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
UniProt
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1582679463
CA365725773
343 K>Q No ClinGen
Ensembl
rs1312697419
CA365725765
344 D>Y No ClinGen
gnomAD
CA365725750
rs1379470082
345 D>E No ClinGen
gnomAD
CA365725757
rs1454209800
345 D>N No ClinGen
gnomAD
CA365725712
rs759265218
349 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs759265218
CA4009344
349 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA148084966
rs142730531
COSM106371
350 K>E skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs768119116
CA148084961
351 S>N No ClinGen
Ensembl
rs1343173967
CA365725681
353 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1343173967
CA365725680
353 V>G No ClinGen
TOPMed
gnomAD
COSM1754530
COSM1754533
rs146674353
CA4009343
COSM1754532
COSM1754531
COSM1754529
353 V>I urinary_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1301824075
CA365725677
354 F>V No ClinGen
gnomAD
rs1562235638 355 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4009342
rs766509532
359 N>Y No ClinGen
ExAC
gnomAD
CA365725614
rs1270259131
362 D>E No ClinGen
TOPMed
CA4009341
rs763222529
362 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs773258040
CA4009340
364 I>T No ClinGen
ExAC
gnomAD
CA365725593
rs1480146288
365 N>K No ClinGen
gnomAD
rs1562235584 367 K>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs769889438
CA4009339
368 I>T No ClinGen
ExAC
TCGA novel 368 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1163695741
CA365725570
369 T>A No ClinGen
TOPMed
rs1433736483
CA365725554
371 P>R No ClinGen
gnomAD
TCGA novel 372 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365725541
rs1249502084
373 N>I No ClinGen
gnomAD
CA148084941
rs868814728
374 P>L No ClinGen
Ensembl
TCGA novel 374 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199735060
CA365725524
375 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA365725502
rs1275194860
377 S>N No ClinGen
Ensembl
rs983335694
CA148084476
378 G>R No ClinGen
TOPMed
CA148084470
rs1033588661
380 N>Y No ClinGen
TOPMed
gnomAD
rs1135343
CA148084463
381 D>E No ClinGen
Ensembl
CA4009312
rs146264488
383 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA148084457
rs933783252
383 R>W No ClinGen
TOPMed
gnomAD
CA365725464
rs1380877517
384 H>N No ClinGen
gnomAD
CA4009310
rs754004596
384 H>Q No ClinGen
ExAC
gnomAD
TCGA novel 384 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4009308
COSM1595877
COSM1073518
COSM1073520
rs769365074
COSM1073521
COSM1073519
388 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754853241
CA4009305
391 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4009303
rs779771297
392 E>D No ClinGen
ExAC
TOPMed
CA4009304
rs537795008
392 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1162721678
CA365725396
393 P>L No ClinGen
gnomAD
CA4009302
rs758199341
395 P>L No ClinGen
ExAC
gnomAD
CA365725387
rs1442331872
395 P>S No ClinGen
gnomAD
rs200826380
CA148084375
396 N>D No ClinGen
gnomAD
CA365725381
rs1445902419
396 N>S No ClinGen
TOPMed
gnomAD
CA4009301
rs750574360
397 S>F No ClinGen
ExAC
gnomAD
CA4009300
rs377098755
398 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4009299
rs377098755
398 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 399 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866837614
CA148084347
402 P>S No ClinGen
Ensembl
rs1340012954
CA365725336
403 D>E No ClinGen
gnomAD
CA4009295
rs545423314
405 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774925063
CA4009292
407 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4009293
rs774925063
407 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 409 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780541198
CA4009289
411 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4009288
rs142645675
412 K>N No ClinGen
ESP
ExAC
gnomAD
rs911864362
CA365725272
413 E>D No ClinGen
TOPMed
CA4009286
rs779967650
416 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4009285
rs764021613
417 A>P No ClinGen
ExAC
gnomAD
rs1562235087
CA365725248
417 A>V No ClinGen
Ensembl
COSM1073515
COSM1073516
COSM1073517
COSM1073514
rs750204554
COSM1595878
CA4009284
424 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1195237711
CA365725196
425 P>L No ClinGen
gnomAD
CA365725190
rs1204532413
426 P>L No ClinGen
TOPMed
rs1259532577
CA365725188
427 T>A No ClinGen
TOPMed
CA365725185
rs144542860
427 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144542860
CA4009282
427 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA148084243
rs150018874
429 S>C No ClinGen
ESP
TOPMed
gnomAD
rs150018874
CA365725173
429 S>F No ClinGen
ESP
TOPMed
gnomAD
CA4009280
rs764031935
431 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA365725159
rs1229064897
431 L>P No ClinGen
gnomAD

No associated diseases with O00141

1 regional properties for O00141

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 13 - 159 IPR005225

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Endoplasmic reticulum membrane
  • Cell membrane
  • Mitochondrion
  • The subcellular localization is controlled by the cell cycle, as well as by exposure to specific hormones and environmental stress stimuli
  • In proliferating cells, it shuttles between the nucleus and cytoplasm in synchrony with the cell cycle, and in serum/growth factor-stimulated cells it resides in the nucleus
  • In contrast, after exposure to environmental stress or treatment with glucocorticoids, it is detected in the cytoplasm and with certain stress conditions is associated with the mitochondria
  • In osmoregulation through the epithelial sodium channel, it can be localized to the cytoplasmic surface of the cell membrane
  • Nuclear, upon phosphorylation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

8 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calcium channel regulator activity Modulates the activity of a calcium channel.
chloride channel regulator activity Binds to and modulates the activity of a chloride channel.
potassium channel regulator activity Binds to and modulates the activity of a potassium channel.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
sodium channel regulator activity Binds to and modulates the activity of a sodium channel.

20 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cellular response to aldosterone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.
cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
long-term memory The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation.
neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of transporter activity Any process that activates or increases the activity of a transporter.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of catalytic activity Any process that modulates the activity of an enzyme.
regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of cell migration Any process that modulates the frequency, rate or extent of cell migration.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of DNA-binding transcription factor activity Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
regulation of gastric acid secretion Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.
regulation of signal transduction by p53 class mediator Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
renal sodium ion absorption A renal system process in which sodium ions are taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures.
sodium ion transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

34 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6TJY3 RPS6KB1 Ribosomal protein S6 kinase beta-1 Bos taurus (Bovine) SS
P23443 RPS6KB1 Ribosomal protein S6 kinase beta-1 Homo sapiens (Human) EV SS
Q9UBS0 RPS6KB2 Ribosomal protein S6 kinase beta-2 Homo sapiens (Human) PR
O15530 PDPK1 3-phosphoinositide-dependent protein kinase 1 Homo sapiens (Human) EV
Q05513 PRKCZ Protein kinase C zeta type Homo sapiens (Human) SS
P41743 PRKCI Protein kinase C iota type Homo sapiens (Human) EV
Q16512 PKN1 Serine/threonine-protein kinase N1 Homo sapiens (Human) EV
Q6P5Z2 PKN3 Serine/threonine-protein kinase N3 Homo sapiens (Human) SS
Q16513 PKN2 Serine/threonine-protein kinase N2 Homo sapiens (Human) EV
P24723 PRKCH Protein kinase C eta type Homo sapiens (Human) SS
Q02156 PRKCE Protein kinase C epsilon type Homo sapiens (Human) SS
Q04759 PRKCQ Protein kinase C theta type Homo sapiens (Human) PR
Q05655 PRKCD Protein kinase C delta type Homo sapiens (Human) SS
P17252 PRKCA Protein kinase C alpha type Homo sapiens (Human) EV
P05129 PRKCG Protein kinase C gamma type Homo sapiens (Human) SS
P05771 PRKCB Protein kinase C beta type Homo sapiens (Human) SS
P31751 AKT2 RAC-beta serine/threonine-protein kinase Homo sapiens (Human) EV SS
P31749 AKT1 RAC-alpha serine/threonine-protein kinase Homo sapiens (Human) EV
Q9Y243 AKT3 RAC-gamma serine/threonine-protein kinase Homo sapiens (Human) SS
Q96BR1 SGK3 Serine/threonine-protein kinase Sgk3 Homo sapiens (Human) SS
Q9HBY8 SGK2 Serine/threonine-protein kinase Sgk2 Homo sapiens (Human) SS
Q15208 STK38 Serine/threonine-protein kinase 38 Homo sapiens (Human) EV
Q9Y2H1 STK38L Serine/threonine-protein kinase 38-like Homo sapiens (Human) EV
Q6A1A2 PDPK2P Putative 3-phosphoinositide-dependent protein kinase 2 Homo sapiens (Human) PR
Q8QZV4 Stk32c Serine/threonine-protein kinase 32C Mus musculus (Mouse) PR
Q9Z1M4 Rps6kb2 Ribosomal protein S6 kinase beta-2 Mus musculus (Mouse) SS
Q8BSK8 Rps6kb1 Ribosomal protein S6 kinase beta-1 Mus musculus (Mouse) SS
Q9ERE3 Sgk3 Serine/threonine-protein kinase Sgk3 Mus musculus (Mouse) PR
P67999 Rps6kb1 Ribosomal protein S6 kinase beta-1 Rattus norvegicus (Rat) EV SS
Q9SUA3 D6PKL1 Serine/threonine-protein kinase D6PKL1 Arabidopsis thaliana (Mouse-ear cress) PR
O48963 PHOT1 Phototropin-1 Arabidopsis thaliana (Mouse-ear cress) PR
O64682 PID Protein kinase PINOID Arabidopsis thaliana (Mouse-ear cress) PR
Q9LUL2 WAG2 Serine/threonine-protein kinase WAG2 Arabidopsis thaliana (Mouse-ear cress) PR
Q5BKK4 sgk1 Serine/threonine-protein kinase Sgk1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MTVKTEAAKG TLTYSRMRGM VAILIAFMKQ RRMGLNDFIQ KIANNSYACK HPEVQSILKI
70 80 90 100 110 120
SQPQEPELMN ANPSPPPSPS QQINLGPSSN PHAKPSDFHF LKVIGKGSFG KVLLARHKAE
130 140 150 160 170 180
EVFYAVKVLQ KKAILKKKEE KHIMSERNVL LKNVKHPFLV GLHFSFQTAD KLYFVLDYIN
190 200 210 220 230 240
GGELFYHLQR ERCFLEPRAR FYAAEIASAL GYLHSLNIVY RDLKPENILL DSQGHIVLTD
250 260 270 280 290 300
FGLCKENIEH NSTTSTFCGT PEYLAPEVLH KQPYDRTVDW WCLGAVLYEM LYGLPPFYSR
310 320 330 340 350 360
NTAEMYDNIL NKPLQLKPNI TNSARHLLEG LLQKDRTKRL GAKDDFMEIK SHVFFSLINW
370 380 390 400 410 420
DDLINKKITP PFNPNVSGPN DLRHFDPEFT EEPVPNSIGK SPDSVLVTAS VKEAAEAFLG
430
FSYAPPTDSF L