Descriptions

(Annotation based on sequence homology with P49841)
Glycogen synthase kinase 3-beta (GSK3B) is a Ser/Thr protein kinase with key roles in transduction of regulatory and proliferative signals. When the N-terminal peptide is phosphorylated (Ser 9), it autoinhibits GSK-3 by acting as a pseudo-substrate that blocks binding of other substrates. Unique to GSK-3, the binding is associated with a drastic conformational rearrangement of a highly conserved loop that engages the inhibitory peptides in a clamp-like structure. And it shows dose-dependent inhibition of GSK3B kinase activity. In addition, the deletion of the N-terminal residues increased GSK3B catalytic activity by two folds.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

262-284 (Activation loop from InterPro)

Target domain

119-403 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

3 structures for P49840

Entry ID Method Resolution Chain Position Source
7SXF X-ray 194 A A 101-444 PDB
7SXG X-ray 240 A A 103-445 PDB
AF-P49840-F1 Predicted AlphaFoldDB

271 variants for P49840

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000492062
rs1131690798
CA406099046
49 G>A Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA308630959
rs192810927
2 S>N No ClinGen
1000Genomes
TOPMed
CA406100116
rs1250528801
2 S>R No ClinGen
gnomAD
rs1240297777
CA406100108
3 G>R No ClinGen
TOPMed
gnomAD
rs1240297777
CA406100112
3 G>S No ClinGen
TOPMed
gnomAD
rs1483941949
CA406100078
5 G>R No ClinGen
gnomAD
CA406099957
rs1311009534
11 P>S No ClinGen
gnomAD
rs1355890061
CA406099899
13 G>V No ClinGen
TOPMed
gnomAD
CA9471059
rs747505933
14 S>L No ClinGen
ExAC
gnomAD
rs1256468309
CA406099801
17 A>V No ClinGen
TOPMed
rs1266468058
CA406099641
24 E>K No ClinGen
gnomAD
CA406099514
rs1555748916
30 G>* No ClinGen
Ensembl
rs1368819528
CA406099360
35 G>C No ClinGen
TOPMed
rs1035648407
CA308630949
35 G>D No ClinGen
TOPMed
gnomAD
rs999712211
CA308630946
37 G>R No ClinGen
TOPMed
CA406099252
rs1156505226
39 S>L No ClinGen
TOPMed
gnomAD
CA406099220
rs1256218535
42 G>S No ClinGen
gnomAD
rs1446926033
CA406099199
43 P>S No ClinGen
TOPMed
gnomAD
CA9471056
rs745884025
45 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1394889426
CA406099122
46 T>S No ClinGen
TOPMed
CA406099104
rs1599814799
47 G>D No ClinGen
Ensembl
CA406098932
rs1328902462
53 V>L No ClinGen
gnomAD
CA406098900
rs1568467534
54 G>R No ClinGen
Ensembl
CA406098877
rs1266670338
55 A>T No ClinGen
gnomAD
rs1322502216
CA406098827
56 M>I No ClinGen
TOPMed
gnomAD
rs779095296
CA9471055
56 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA406098845
rs1164825193
56 M>V No ClinGen
gnomAD
CA308630927
rs984204862
57 G>A No ClinGen
TOPMed
CA406098812
rs984204862
57 G>D No ClinGen
TOPMed
rs757519746
CA9471054
59 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA406098765
rs1325090938
60 V>I No ClinGen
TOPMed
CA406098697
rs1440405889
62 A>D No ClinGen
TOPMed
gnomAD
rs1387601771
CA406098672
63 S>L No ClinGen
gnomAD
CA406098629
rs1286954422
64 S>I No ClinGen
gnomAD
CA406098582
rs1459272124
66 G>R No ClinGen
gnomAD
CA308630903
rs1028285710
68 G>E No ClinGen
Ensembl
rs763967845
CA9471052
68 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs909735120
CA308630894
69 P>A No ClinGen
TOPMed
gnomAD
CA406098445
rs1487197016
70 G>D No ClinGen
TOPMed
CA406098458
rs1266667053
70 G>S No ClinGen
TOPMed
CA406098420
rs1189739306
71 G>V No ClinGen
gnomAD
CA9471050
rs752541196
72 S>N No ClinGen
ExAC
gnomAD
CA308630882
rs767318232
73 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA9471049
rs767318232
73 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs759540973
CA9471048
76 G>D No ClinGen
ExAC
gnomAD
TCGA novel 77 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370299102
CA406098226
78 G>R No ClinGen
TOPMed
rs1019306691
CA308630869
79 G>S No ClinGen
TOPMed
gnomAD
CA406098172
rs1568467485
80 P>S No ClinGen
Ensembl
CA308630846
rs992462361
81 G>D No ClinGen
TOPMed
gnomAD
CA406098055
rs1360888950
84 T>I No ClinGen
TOPMed
rs1360888950
CA406098061
84 T>N No ClinGen
TOPMed
rs1364314334
CA406098045
85 S>G No ClinGen
gnomAD
rs1388234779
CA406097970
87 P>L No ClinGen
TOPMed
gnomAD
CA9471047
rs545519489
87 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA9471046
rs765917283
88 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs772910426
CA9471044
89 P>R No ClinGen
ExAC
gnomAD
rs1285934918
CA406097927
89 P>S No ClinGen
gnomAD
rs1330417314
CA406097911
90 G>A No ClinGen
TOPMed
CA406097917
rs1599814649
90 G>R No ClinGen
Ensembl
CA406097882
rs1211020244
91 V>E No ClinGen
TOPMed
CA406097877
rs1211020244
91 V>G No ClinGen
TOPMed
rs377139858
CA406097855
92 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9471042
rs747329882
94 G>R No ClinGen
ExAC
gnomAD
rs868058377
CA308630826
94 G>V No ClinGen
Ensembl
rs779904255
CA9471012
95 R>H No ClinGen
ExAC
rs749907832
CA9471010
98 G>R Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406096320
rs1188285927
99 K>Q No ClinGen
gnomAD
CA406096278
rs1599813636
100 V>G No ClinGen
Ensembl
CA406096291
rs1441919598
100 V>L No ClinGen
gnomAD
rs965827350
CA308629973
101 T>I No ClinGen
TOPMed
gnomAD
CA9471009
rs764778729
102 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs148059197
CA9471008
104 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148059197
CA9471007
104 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1268572541
CA406096147
107 L>P No ClinGen
gnomAD
CA406096136
rs1374518673
108 G>S No ClinGen
TOPMed
rs35978177
CA9471006
VAR_051625
109 Q>E No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA406096082
rs1285630690
110 G>D No ClinGen
TOPMed
gnomAD
rs754164769
CA9471005
110 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA406096076
rs1285630690
110 G>V No ClinGen
TOPMed
gnomAD
rs774878085
CA9471004
113 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771524236
CA9471003
113 R>H No ClinGen
ExAC
gnomAD
CA9471001
rs773402220
114 S>P No ClinGen
ExAC
gnomAD
rs112179240
CA308629963
115 Q>R No ClinGen
Ensembl
rs769972399
CA9471000
116 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748311925
CA9470999
120 T>M No ClinGen
ExAC
gnomAD
COSM77819
CA9470998
rs781405859
122 I>M ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1472502410
CA406095753
125 I>V No ClinGen
gnomAD
TCGA novel 126 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406095710
rs1209337771
127 N>S No ClinGen
TOPMed
CA406095533
rs1181645225
134 Y>F No ClinGen
gnomAD
rs771018222
CA9470995
137 R>Q No ClinGen
ExAC
gnomAD
CA9470994
rs758313664
139 A>T No ClinGen
ExAC
gnomAD
rs995391049
CA308629945
141 T>A No ClinGen
Ensembl
CA9470993
rs377767121
141 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1175239860
CA406095332
142 R>K No ClinGen
TOPMed
TCGA novel 151 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753302903
CA9470990
156 F>V No ClinGen
ExAC
gnomAD
rs188273923
CA9470961
163 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs538814192
CA308628845
164 M>V No ClinGen
Ensembl
CA406094086
rs1183969392
165 R>C No ClinGen
gnomAD
TCGA novel 166 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406093992
rs1231853362
172 I>T No ClinGen
gnomAD
TCGA novel 182 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759795011
CA9470933
188 E>K No ClinGen
ExAC
gnomAD
CA406093637
rs1357968048
195 L>M No ClinGen
TOPMed
rs1228185101
CA406093624
195 L>R No ClinGen
TOPMed
CA406093474
rs1330546749
202 V>A No ClinGen
Ensembl
TCGA novel 202 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs946576843
CA308628745
203 Y>S No ClinGen
Ensembl
CA406093432
rs1156515117
204 R>Q No ClinGen
gnomAD
rs961346905
CA308628743
204 R>W No ClinGen
gnomAD
rs1425030772
CA406093403
206 A>P No ClinGen
gnomAD
CA9470930
rs762941632
207 R>C No ClinGen
ExAC
gnomAD
CA9470929
rs374117558
207 R>H No ClinGen
ESP
ExAC
gnomAD
CA9470928
rs780627193
213 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs747609490
CA9470927
215 T>I No ClinGen
ExAC
gnomAD
CA406093266
rs1599811792
215 T>P No ClinGen
Ensembl
rs780876254
CA9470926
216 I>V No ClinGen
ExAC
gnomAD
rs370744168
CA9470922
220 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs986885157
CA308627913
223 V>A No ClinGen
Ensembl
rs1226685012
CA406092447
224 Y>C No ClinGen
TOPMed
rs1480971718
CA406092443
225 M>L No ClinGen
gnomAD
rs759265893
CA9470899
225 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 228 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 229 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 229 F>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs908624912
CA308627899
235 I>N No ClinGen
TOPMed
gnomAD
TCGA novel 238 Q>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1212146016
CA406092338
239 G>A No ClinGen
TOPMed
rs766460072
CA9470895
240 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1209114
rs1249544838
CA406092314
243 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 249 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750207489
CA9470893
253 D>N No ClinGen
ExAC
gnomAD
rs1176260955
CA406092244
253 D>V No ClinGen
gnomAD
CA406092240
rs1157501093
254 P>A No ClinGen
TOPMed
CA9470891
rs761840963
256 T>S No ClinGen
ExAC
gnomAD
rs1415606112
CA406092210
258 V>L No ClinGen
TOPMed
TCGA novel 263 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760709783
CA9470870
269 Q>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760709783
CA406091950
269 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs774840736
CA9470869
272 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 278 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759105475
CA9470867
283 R>C No ClinGen
ExAC
gnomAD
rs1035974110
CA406091671
COSM997282
283 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1035974110
CA308627852
283 R>L No ClinGen
TOPMed
gnomAD
rs981266433
CA308627849
286 R>W No ClinGen
TOPMed
TCGA novel 288 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406091488
rs1428107658
292 F>L No ClinGen
TOPMed
TCGA novel 303 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406091274
rs1161565330
304 W>* No ClinGen
gnomAD
CA406091277
rs779175432
304 W>* No ClinGen
ExAC
gnomAD
CA9470838
rs779175432
304 W>S No ClinGen
ExAC
gnomAD
rs1411642033
CA406091257
306 A>T No ClinGen
gnomAD
rs866283999
CA308627538
311 A>T No ClinGen
Ensembl
rs867510755
CA308627536
312 E>* No ClinGen
Ensembl
CA406091173
rs1167070200
314 L>F No ClinGen
gnomAD
TCGA novel 316 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749580672
CA9470836
319 I>V No ClinGen
ExAC
gnomAD
rs777426805
CA9470835
320 F>L No ClinGen
ExAC
gnomAD
CA406091041
rs1599809999
324 S>R No ClinGen
Ensembl
rs376641475
CA406090994
327 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1206035457
CA406091016
327 D>N No ClinGen
gnomAD
rs1272927888
CA406090949
330 V>M No ClinGen
gnomAD
CA308627496
rs868320301
336 L>P No ClinGen
Ensembl
TCGA novel 337 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406090717
rs1408231243
339 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1337074844
CA406090682
341 R>L No ClinGen
TOPMed
gnomAD
rs1337074844
CA406090681
341 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA308627493
rs907284414
341 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA308627489
rs377171569
343 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9470818
rs377171569
343 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773423786
CA9470817
349 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA406090487
rs1160899097
350 N>S No ClinGen
TOPMed
gnomAD
CA406090432
rs1175974409
352 T>M No ClinGen
gnomAD
CA406090418
rs1244295204
353 E>* No ClinGen
gnomAD
rs1460275285
CA406090307
357 P>L No ClinGen
gnomAD
CA308627478
rs566849543
361 A>S No ClinGen
1000Genomes
rs779531784
CA9470811
362 H>L No ClinGen
ExAC
gnomAD
CA406088921
rs1474572177
362 H>Q No ClinGen
TOPMed
rs1382575097
CA406088537
368 F>L No ClinGen
gnomAD
TCGA novel 369 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1215626593
CA406088463
371 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1215626593
CA406088465
371 R>G No ClinGen
TOPMed
gnomAD
rs1360787446
CA406088455
371 R>Q No ClinGen
TOPMed
gnomAD
rs1295983715
CA406088431
372 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs746066994
CA308627353
373 P>L No ClinGen
TOPMed
gnomAD
CA406088376
rs1456790864
374 P>Q No ClinGen
gnomAD
CA406088362
rs1300952322
375 E>Q No ClinGen
TOPMed
CA9470793
rs779920504
376 A>G No ClinGen
ExAC
rs758365091
COSM997274
CA9470792
378 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745355981
CA9470791
378 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA406088251
rs1467035531
380 C>S No ClinGen
TOPMed
rs1490532781
CA406088261
380 C>S No ClinGen
gnomAD
CA406088215
rs763845338
381 S>C No ClinGen
ExAC
gnomAD
rs763845338
CA9470787
381 S>F No ClinGen
ExAC
gnomAD
CA406088194
rs1220366398
382 S>I No ClinGen
gnomAD
TCGA novel 384 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 386 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1227824774
CA406088090
387 T>P No ClinGen
gnomAD
rs766951143
CA9470784
399 A>T No ClinGen
ExAC
gnomAD
CA9470783
rs763409196
399 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9470781
rs765287420
401 S>R No ClinGen
ExAC
gnomAD
TCGA novel 407 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA308627339
rs574208169
407 R>P No ClinGen
gnomAD
CA406087505
rs574208169
407 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1422015490
CA406087492
408 C>R No ClinGen
gnomAD
CA9470778
rs768891597
409 L>V No ClinGen
ExAC
gnomAD
rs1252547692
CA406087302
415 N>K No ClinGen
gnomAD
rs775308267
CA9470776
416 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs745851660
CA9470774
417 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM997272
rs1205340289
CA406087251
417 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA406087217
rs1176142177
419 L>F No ClinGen
gnomAD
rs770282435
CA9470772
421 P>H No ClinGen
ExAC
gnomAD
rs770282435
CA406087157
421 P>L No ClinGen
ExAC
gnomAD
rs980287763
CA308627329
427 A>V No ClinGen
TOPMed
CA308627327
rs971574526
428 G>D No ClinGen
TOPMed
gnomAD
CA406086865
rs1417966495
431 S>C No ClinGen
gnomAD
rs777463616
CA9470749
432 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs954624999
CA308627252
432 I>V No ClinGen
TOPMed
rs1165441689
CA406086807
434 P>S No ClinGen
gnomAD
TCGA novel 435 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 436 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs562611851
CA406086726
437 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406086744
rs1236744225
437 N>Y No ClinGen
gnomAD
CA406086715
rs780458200
438 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA9470746
rs780458200
438 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 439 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406086636
rs1350924549
441 I>T No ClinGen
gnomAD
rs1294546069
CA406086619
442 P>S No ClinGen
gnomAD
rs557869303
CA308627246
443 P>S No ClinGen
Ensembl
CA9470744
rs773016062
445 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA406086538
rs1359151387
446 R>K No ClinGen
gnomAD
rs1195958363
CA406086506
447 S>F No ClinGen
TOPMed
CA9470742
rs201338063
448 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9470741
rs201338063
448 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9470739
rs756325459
449 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA406086454
rs1464135401
450 G>A No ClinGen
TOPMed
CA406086412
rs1395202956
453 T>A No ClinGen
TOPMed
CA9470737
rs11550536
454 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA406086387
rs1165380071
454 L>P No ClinGen
TOPMed
gnomAD
CA308627237
rs950317218
455 T>N No ClinGen
TOPMed
CA308627239
rs764690826
455 T>S No ClinGen
Ensembl
CA9470736
rs759204057
456 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs766194328
CA9470734
458 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA406086311
rs1476282315
459 Q>R No ClinGen
TOPMed
gnomAD
rs376057161
CA9470733
460 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs35454502
CA9470721
VAR_040539
461 L>F No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA9470722
rs778258162
461 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs201310907
CA308626757
464 T>I No ClinGen
1000Genomes
CA308626759
rs201310907
464 T>N No ClinGen
1000Genomes
rs201310907
CA406084639
464 T>S No ClinGen
1000Genomes
rs752845859
CA9470720
465 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1403697782
CA406084618
466 T>S No ClinGen
TOPMed
CA406084567
rs1257760220
469 D>E No ClinGen
TOPMed
gnomAD
CA406084551
rs1325877352
470 W>* No ClinGen
gnomAD
CA406084559
rs1197150211
470 W>G No ClinGen
gnomAD
rs868094081
CA308626752
471 Q>* No ClinGen
Ensembl
rs755266233
CA9470718
472 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1448054868
CA406084512
473 T>N No ClinGen
TOPMed
rs1375007525
CA406084500
474 D>N No ClinGen
TOPMed
rs766254532
CA9470716
475 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA308626741
rs867989593
476 T>K No ClinGen
Ensembl
CA406084470
rs1599808511
476 T>P No ClinGen
Ensembl
rs1347260842
CA406084443
478 T>A No ClinGen
TOPMed
CA406084441
rs1347260842
478 T>P No ClinGen
TOPMed
TCGA novel 479 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1198737800
CA406084418
480 T>A No ClinGen
TOPMed
rs773213319
CA9470714
481 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA308626739
rs866755387
482 S>F No ClinGen
Ensembl
CA406084388
rs1599808478
482 S>P No ClinGen
Ensembl

No associated diseases with P49840

7 regional properties for P49840

Type Name Position InterPro Accession
domain EF-hand domain 182 - 233 IPR002048
domain FAD-binding 8 562 - 678 IPR013112
domain Ferric reductase, NAD binding domain 685 - 849 IPR013121
domain Ferric reductase transmembrane component-like domain 363 - 518 IPR013130
domain NADPH oxidase Respiratory burst 103 - 201 IPR013623
domain FAD-binding domain, ferredoxin reductase-type 558 - 681 IPR017927
binding_site EF-Hand 1, calcium-binding site 211 - 223 IPR018247

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
apical dendrite A dendrite that emerges near the apical pole of a neuron. In bipolar neurons, apical dendrites are located on the opposite side of the soma from the axon.
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
beta-catenin destruction complex A cytoplasmic protein complex containing glycogen synthase kinase-3-beta (GSK-3-beta), the adenomatous polyposis coli protein (APC), and the scaffolding protein axin, among others; phosphorylates beta-catenin, targets it for degradation by the proteasome.
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.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
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.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
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.
postsynapse The part of a synapse that is part of the post-synaptic cell.
proximal dendrite The dendrite of the dendritic tree that is closest to the neuronal cell body (the soma).

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein kinase A catalytic subunit binding Binding to one or both of the catalytic subunits of protein kinase A.
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.
signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
tau protein binding Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS.
tau-protein kinase activity Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein.

53 GO annotations of biological process

Name Definition
aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
cardiac left ventricle morphogenesis The process in which the left cardiac ventricle is generated and organized.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to glucocorticoid 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 glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.
cellular response to insulin 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 an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
cellular response to interleukin-3 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 interleukin-3 stimulus.
cellular response to lithium ion 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 lithium (Li+) ion stimulus.
dopamine receptor signaling pathway The series of molecular signals generated as a consequence of a dopamine receptor binding to one of its physiological ligands.
excitatory postsynaptic potential A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.
extrinsic apoptotic signaling pathway The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered.
extrinsic apoptotic signaling pathway in absence of ligand The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with withdrawal of a ligand from a cell surface receptor, and ends when the execution phase of apoptosis is triggered.
glycogen metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages.
hypermethylation of CpG island An increase in the epigenetic methylation of cytosine and adenosine residues in a CpG island in DNA. CpG islands are genomic regions that contain a high frequency of the CG dinucleotide and are often associated with the transcription start site of genes.
insulin receptor signaling pathway The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
negative regulation of canonical Wnt signaling pathway Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of cell growth involved in cardiac muscle cell development Any process that decreases the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state.
negative regulation of dendrite development Any process that stops, prevents, or reduces the frequency, rate or extent of dendrite development.
negative regulation of glucose import Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.
negative regulation of glycogen (starch) synthase activity Any process that stops, prevents or reduces the frequency, rate or extent of glycogen (starch) synthase activity.
negative regulation of glycogen biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen.
negative regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate.
negative regulation of insulin receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling.
negative regulation of TOR signaling Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling.
negative regulation of type B pancreatic cell development Any process that stops, prevents, or reduces the frequency, rate or extent of pancreatic B cell development.
negative regulation of UDP-glucose catabolic process Any process that decreases the rate, frequency or extent of UDP-glucose catabolism. UDP-glucose catabolic processes are the chemical reactions and pathways resulting in the breakdown of UDP-glucose, uridinediphosphoglucose, a substance composed of glucose in glycosidic linkage with uridine diphosphate.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
peptidyl-threonine phosphorylation The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway Any process that activates or increases the frequency, rate or extent of the adenylate cyclase-activating adrenergic receptor protein signaling pathway. An adrenergic receptor signaling pathway is the series of molecular signals generated as a consequence of an adrenergic receptor binding to one of its physiological ligands.
positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway Any process that activates or increases the frequency, rate or extent of an adenylate cyclase-activating G protein-coupled receptor signaling pathway.
positive regulation of amyloid-beta formation Any process that activates or increases the frequency, rate or extent of amyloid-beta formation.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of glycogen (starch) synthase activity Any process that activates or increases the frequency, rate or extent of glycogen (starch) synthase activity.
positive regulation of heart contraction Any process that activates or increases the frequency, rate or extent of heart contraction.
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway.
positive regulation of neuron apoptotic process Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process.
positive regulation of peptidyl-serine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of peptidyl-threonine phosphorylation Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of proteasomal ubiquitin-dependent protein catabolic process Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
positive regulation of protein catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of protein targeting to mitochondrion Any process that activates or increases the frequency, rate or extent of protein targeting to mitochondrion.
positive regulation of protein ubiquitination Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
proteasome-mediated ubiquitin-dependent protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of autophagy of mitochondrion Any process that modulates the frequency, rate or extent of mitochondrion degradation by an autophagic process.
regulation of gene expression by genomic imprinting An epigenetic mechanism of regulation of gene expression in which epigenetic modifications (imprints) are established during gametogenesis. For a given gene to show parentally biased expression, the imprint are established exclusively in one of the two parental genomes, thus generating an asymmetry between the maternal and paternal alleles.
regulation of neuron projection development Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
regulation of systemic arterial blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
viral protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein.
Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P18431 sgg Protein kinase shaggy Drosophila melanogaster (Fruit fly) SS
P49841 GSK3B Glycogen synthase kinase-3 beta Homo sapiens (Human) EV
Q80YS9 Stkld1 Serine/threonine kinase-like domain-containing protein STKLD1 Mus musculus (Mouse) PR
Q9WV60 Gsk3b Glycogen synthase kinase-3 beta Mus musculus (Mouse) EV
Q2NL51 Gsk3a Glycogen synthase kinase-3 alpha Mus musculus (Mouse) SS
P18266 Gsk3b Glycogen synthase kinase-3 beta Rattus norvegicus (Rat) PR
P18265 Gsk3a Glycogen synthase kinase-3 alpha Rattus norvegicus (Rat) PR
Q09595 R03D7.5 Putative serine/threonine-protein kinase R03D7.5 Caenorhabditis elegans PR
Q9U2Q9 gsk-3 Glycogen synthase kinase-3 Caenorhabditis elegans PR
Q39019 ASK10 Shaggy-related protein kinase kappa Arabidopsis thaliana (Mouse-ear cress) PR
Q9FVS6 ASK4 Shaggy-related protein kinase delta Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSGGGPSGGG PGGSGRARTS SFAEPGGGGG GGGGGPGGSA SGPGGTGGGK ASVGAMGGGV
70 80 90 100 110 120
GASSSGGGPG GSGGGGSGGP GAGTSFPPPG VKLGRDSGKV TTVVATLGQG PERSQEVAYT
130 140 150 160 170 180
DIKVIGNGSF GVVYQARLAE TRELVAIKKV LQDKRFKNRE LQIMRKLDHC NIVRLRYFFY
190 200 210 220 230 240
SSGEKKDELY LNLVLEYVPE TVYRVARHFT KAKLTIPILY VKVYMYQLFR SLAYIHSQGV
250 260 270 280 290 300
CHRDIKPQNL LVDPDTAVLK LCDFGSAKQL VRGEPNVSYI CSRYYRAPEL IFGATDYTSS
310 320 330 340 350 360
IDVWSAGCVL AELLLGQPIF PGDSGVDQLV EIIKVLGTPT REQIREMNPN YTEFKFPQIK
370 380 390 400 410 420
AHPWTKVFKS RTPPEAIALC SSLLEYTPSS RLSPLEACAH SFFDELRCLG TQLPNNRPLP
430 440 450 460 470 480
PLFNFSAGEL SIQPSLNAIL IPPHLRSPAG TTTLTPSSQA LTETPTSSDW QSTDATPTLT
NSS