P49841
Gene name |
GSK3B |
Protein name |
Glycogen synthase kinase-3 beta |
Names |
GSK-3 beta, Serine/threonine-protein kinase GSK3B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2932 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
GLYCOGEN SYNTHASE KINASE-3 ALPHA (PTHR24057) |

Descriptions
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 |
56-340 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Structural analysis, Peptide inhibitor test |
Accessory elements
199-221 (Activation loop from InterPro)
Target domain |
56-340 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Dajani R et al. (2001) "Crystal structure of glycogen synthase kinase 3 beta: structural basis for phosphate-primed substrate specificity and autoinhibition", Cell, 105, 721-32
- Stamos JL et al. (2014) "Structural basis of GSK-3 inhibition by N-terminal phosphorylation and by the Wnt receptor LRP6", eLife, 3, e01998
Autoinhibited structure
Activated structure
105 structures for P49841
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1GNG | X-ray | 260 A | A/B | 27-393 | PDB |
1H8F | X-ray | 280 A | A/B | 35-386 | PDB |
1I09 | X-ray | 270 A | A/B | 1-420 | PDB |
1J1B | X-ray | 180 A | A/B | 1-420 | PDB |
1J1C | X-ray | 210 A | A/B | 1-420 | PDB |
1O6K | X-ray | 170 A | C | 3-12 | PDB |
1O6L | X-ray | 160 A | C | 3-12 | PDB |
1O9U | X-ray | 240 A | A | 35-384 | PDB |
1PYX | X-ray | 240 A | A/B | 1-420 | PDB |
1Q3D | X-ray | 220 A | A/B | 2-420 | PDB |
1Q3W | X-ray | 230 A | A/B | 2-420 | PDB |
1Q41 | X-ray | 210 A | A/B | 2-420 | PDB |
1Q4L | X-ray | 277 A | A/B | 2-420 | PDB |
1Q5K | X-ray | 194 A | A/B | 7-420 | PDB |
1R0E | X-ray | 225 A | A/B | 35-420 | PDB |
1UV5 | X-ray | 280 A | A | 35-384 | PDB |
2JDO | X-ray | 180 A | C | 3-12 | PDB |
2JDR | X-ray | 230 A | C | 3-12 | PDB |
2JLD | X-ray | 235 A | A/B | 1-420 | PDB |
2O5K | X-ray | 320 A | A | 29-393 | PDB |
2OW3 | X-ray | 280 A | A/B | 35-386 | PDB |
2UW9 | X-ray | 210 A | C | 3-12 | PDB |
2X39 | X-ray | 193 A | C | 3-12 | PDB |
2XH5 | X-ray | 272 A | C | 3-12 | PDB |
3CQU | X-ray | 220 A | C | 3-12 | PDB |
3CQW | X-ray | 200 A | C | 3-12 | PDB |
3DU8 | X-ray | 220 A | A/B | 1-420 | PDB |
3E87 | X-ray | 230 A | C/D | 3-12 | PDB |
3E88 | X-ray | 250 A | C/D | 3-12 | PDB |
3E8D | X-ray | 270 A | C/D | 3-12 | PDB |
3F7Z | X-ray | 240 A | A/B | 35-383 | PDB |
3F88 | X-ray | 260 A | A/B | 35-383 | PDB |
3GB2 | X-ray | 240 A | A | 34-383 | PDB |
3I4B | X-ray | 230 A | A/B | 7-420 | PDB |
3L1S | X-ray | 290 A | A/B | 7-420 | PDB |
3M1S | X-ray | 313 A | A/B | 1-420 | PDB |
3MV5 | X-ray | 247 A | C | 3-12 | PDB |
3OW4 | X-ray | 260 A | C/D | 3-12 | PDB |
3PUP | X-ray | 299 A | A/B | 1-420 | PDB |
3Q3B | X-ray | 270 A | A/B | 2-420 | PDB |
3QKK | X-ray | 230 A | C | 3-12 | PDB |
3SAY | X-ray | 223 A | A/B | 1-420 | PDB |
3SD0 | X-ray | 270 A | A/B | 35-384 | PDB |
3ZDI | X-ray | 264 A | A | 35-384 | PDB |
3ZRK | X-ray | 237 A | A/B | 23-393 | PDB |
3ZRL | X-ray | 248 A | A/B | 23-393 | PDB |
3ZRM | X-ray | 249 A | A/B | 23-393 | PDB |
4ACC | X-ray | 221 A | A/B | 1-420 | PDB |
4ACD | X-ray | 260 A | A/B | 1-420 | PDB |
4ACG | X-ray | 260 A | A/B | 1-420 | PDB |
4ACH | X-ray | 260 A | A/B | 1-420 | PDB |
4AFJ | X-ray | 198 A | A/B | 27-393 | PDB |
4B7T | X-ray | 277 A | A | 35-384 | PDB |
4DIT | X-ray | 260 A | A | 27-393 | PDB |
4EKK | X-ray | 280 A | C/D | 3-12 | PDB |
4IQ6 | X-ray | 312 A | A/B | 1-420 | PDB |
4J1R | X-ray | 270 A | A/B/C/D | 1-420 | PDB |
4J71 | X-ray | 231 A | A/B | 1-420 | PDB |
4NM0 | X-ray | 250 A | A | 1-383 | PDB |
4NM3 | X-ray | 210 A | A | 1-383 | PDB |
4NM5 | X-ray | 230 A | A | 13-383 | PDB |
4NM7 | X-ray | 230 A | A | 13-383 | PDB |
4PTC | X-ray | 271 A | A/B | 1-420 | PDB |
4PTE | X-ray | 203 A | A/B | 1-420 | PDB |
4PTG | X-ray | 236 A | A/B | 1-420 | PDB |
5F94 | X-ray | 251 A | A/B | 36-385 | PDB |
5F95 | X-ray | 252 A | A/B | 36-385 | PDB |
5HLN | X-ray | 310 A | A/B | 1-420 | PDB |
5HLP | X-ray | 245 A | A/B | 1-420 | PDB |
5K5N | X-ray | 220 A | A/B | 28-384 | PDB |
5KPK | X-ray | 240 A | A/B | 1-420 | PDB |
5KPL | X-ray | 260 A | A/B | 1-420 | PDB |
5KPM | X-ray | 269 A | A/B | 1-420 | PDB |
5OY4 | X-ray | 320 A | A/B | 1-420 | PDB |
5T31 | X-ray | 285 A | A/B | 1-420 | PDB |
6B8J | X-ray | 260 A | A | 1-420 | PDB |
6BUU | X-ray | 240 A | F/G | 3-12 | PDB |
6GJO | X-ray | 291 A | A/B | 7-420 | PDB |
6GN1 | X-ray | 260 A | A/B | 27-393 | PDB |
6H0U | X-ray | 230 A | A/B | 1-420 | PDB |
6HK3 | X-ray | 235 A | A/B | 35-384 | PDB |
6HK4 | X-ray | 250 A | A/B | 35-384 | PDB |
6HK7 | X-ray | 320 A | A | 36-382 | PDB |
6NPZ | X-ray | 212 A | F/G | 3-12 | PDB |
6TCU | X-ray | 214 A | A | 35-386 | PDB |
6V6L | X-ray | 219 A | A | 1-420 | PDB |
6Y9R | X-ray | 208 A | A | 35-384 | PDB |
6Y9S | X-ray | 203 A | A/B | 35-384 | PDB |
7B6F | X-ray | 205 A | A | 26-383 | PDB |
7OY5 | X-ray | 257 A | A/B | 35-385 | PDB |
7SXH | X-ray | 209 A | A | 37-383 | PDB |
7SXJ | X-ray | 185 A | A | 34-383 | PDB |
7U2Z | X-ray | 221 A | A/B | 35-382 | PDB |
7U31 | X-ray | 238 A | A/B | 36-385 | PDB |
7U33 | X-ray | 260 A | A/B | 35-385 | PDB |
7U36 | X-ray | 275 A | A/B | 35-385 | PDB |
7Z1F | X-ray | 300 A | A/B | 26-383 | PDB |
7Z1G | X-ray | 285 A | A | 26-383 | PDB |
8AUZ | X-ray | 266 A | A/B | 26-383 | PDB |
8AV1 | X-ray | 215 A | A/B | 26-383 | PDB |
8DJC | X-ray | 246 A | A/B | 1-420 | PDB |
8DJD | X-ray | 221 A | A/B | 1-420 | PDB |
8DJE | X-ray | 237 A | A/B | 1-420 | PDB |
8FF8 | X-ray | 233 A | A/B | 1-420 | PDB |
AF-P49841-F1 | Predicted | AlphaFoldDB |
186 variants for P49841
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1576324295 CA354350269 |
7 | T>P | No |
ClinGen Ensembl |
|
rs1576324288 CA354350262 |
8 | T>P | No |
ClinGen Ensembl |
|
rs753624393 CA354350245 |
10 | F>L | No |
ClinGen Ensembl |
|
rs1436410958 CA354350215 |
14 | C>* | No |
ClinGen gnomAD |
|
rs373508918 CA2558556 |
15 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201865088 CA82418570 |
18 | Q>R | No |
ClinGen Ensembl |
|
CA82418569 rs201086798 |
21 | S>L | No |
ClinGen Ensembl |
|
rs750102236 CA2558552 |
22 | A>P | No |
ClinGen ExAC gnomAD |
|
rs774835112 CA2558549 |
23 | F>C | No |
ClinGen ExAC gnomAD |
|
rs769312285 CA2558548 |
23 | F>L | No |
ClinGen ExAC gnomAD |
|
CA354350152 rs1368413587 |
24 | G>V | No |
ClinGen gnomAD |
|
rs763333358 CA2558547 |
26 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1309654926 CA354350141 |
26 | M>L | No |
ClinGen gnomAD |
|
rs1309654926 CA354350142 |
26 | M>V | No |
ClinGen gnomAD |
|
rs199935462 CA82418568 |
27 | K>E | No |
ClinGen Ensembl |
|
rs769708545 CA2558546 |
29 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1162665263 CA354350118 |
29 | S>R | No |
ClinGen gnomAD |
|
rs769708545 CA2558545 |
29 | S>T | No |
ClinGen ExAC gnomAD |
|
CA354348690 rs1269622391 COSM281577 COSM281578 |
34 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA2558523 rs759572039 |
38 | T>I | No |
ClinGen ExAC gnomAD |
|
CA2558522 rs776666984 |
39 | T>A | No |
ClinGen ExAC gnomAD |
|
CA2558521 rs771162975 |
43 | T>A | No |
ClinGen ExAC gnomAD |
|
CA354348632 rs1422948653 |
43 | T>I | No |
ClinGen TOPMed |
|
CA82408150 rs200600198 |
47 | G>V | No |
ClinGen gnomAD |
|
rs199688358 CA82408149 |
48 | P>L | No |
ClinGen Ensembl |
|
CA2558518 rs768381879 |
48 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA82408148 rs999399448 |
52 | Q>K | No |
ClinGen TOPMed gnomAD |
|
rs201555172 CA82408146 |
59 | T>A | No |
ClinGen Ensembl |
|
CA82408145 rs1043846922 |
60 | K>E | No |
ClinGen gnomAD |
|
rs1451473946 CA354348518 |
60 | K>N | No |
ClinGen TOPMed |
|
rs1319842683 CA354348514 |
61 | V>A | No |
ClinGen TOPMed |
|
rs779897228 CA2558516 |
61 | V>L | No |
ClinGen ExAC gnomAD |
|
CA354348510 rs1178691948 |
62 | I>V | No |
ClinGen gnomAD |
|
rs1576261979 CA354348473 |
67 | F>C | No |
ClinGen Ensembl |
|
rs184532476 CA2558514 |
70 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs202134968 CA2558511 |
78 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM294428 COSM294429 CA354348371 rs1576261930 |
83 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs944354549 CA82408142 |
86 | K>N | No |
ClinGen Ensembl |
|
CA82408141 rs911772371 |
91 | K>Q | No |
ClinGen Ensembl |
|
rs1025803517 CA82408140 |
92 | R>K | No |
ClinGen Ensembl |
|
CA354349758 COSM1670472 COSM1670471 rs1163587458 |
96 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1189138605 CA354349692 |
105 | D>G | No |
ClinGen gnomAD |
|
CA2558484 rs773253962 |
107 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs767657425 CA2558483 |
108 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762056483 CA82401742 |
111 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1036830 COSM1036829 CA2558482 rs762056483 |
111 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs775155403 CA2558481 |
113 | R>C | No |
ClinGen ExAC gnomAD |
|
CA2558480 rs769576748 |
113 | R>H | No |
ClinGen ExAC gnomAD |
|
CA2558478 rs776780339 |
119 | S>G | No |
ClinGen ExAC gnomAD |
|
CA354349205 rs1246291930 |
123 | K>E | No |
ClinGen gnomAD |
|
CA2558452 rs541918115 |
124 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354349183 rs1278284853 |
126 | V>I | No |
ClinGen gnomAD |
|
COSM1418069 COSM1418070 CA354349173 rs1347660914 |
127 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA354349144 rs1275927228 |
132 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1228373745 CA354349138 |
133 | D>N | No |
ClinGen gnomAD |
|
rs747598536 CA2558451 |
134 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA82399050 rs972600014 |
135 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1345405296 CA354349116 |
136 | P>L | No |
ClinGen gnomAD |
|
CA354349114 rs1345405296 |
136 | P>Q | No |
ClinGen gnomAD |
|
rs748461608 CA82399049 |
138 | T>I | No |
ClinGen Ensembl |
|
CA2558447 COSM1209122 COSM1209121 rs374053953 |
140 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
CA2558446 rs200380044 |
143 | A>S | No |
ClinGen ExAC gnomAD |
|
CA354349050 rs1388335197 |
146 | Y>C | No |
ClinGen gnomAD |
|
rs576401632 CA2558444 |
147 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1450227743 CA354349038 |
148 | R>* | No |
ClinGen gnomAD |
|
CA2558443 rs757429682 |
148 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs751566414 CA2558442 |
149 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558441 rs764422326 |
152 | T>A | No |
ClinGen ExAC gnomAD |
|
rs72546695 CA2558440 |
152 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766207294 CA2558438 |
153 | L>P | No |
ClinGen ExAC gnomAD |
|
rs933925110 CA82398242 |
160 | L>F | No |
ClinGen Ensembl |
|
rs758696011 CA2558422 |
161 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462455112 CA354348250 |
162 | M>I | No |
ClinGen gnomAD |
|
rs199990599 CA82398241 |
162 | M>V | No |
ClinGen TOPMed |
|
rs148468264 CA2558421 |
166 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1471595 rs201787969 CA82398240 COSM1471596 |
167 | R>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
COSM1036824 COSM1036823 CA2558419 rs756003147 |
167 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs200780530 CA82398239 |
170 | A>T | No |
ClinGen TOPMed |
|
rs1391379309 CA354348194 |
171 | Y>F | No |
ClinGen TOPMed |
|
rs201450363 CA82398237 |
182 | I>T | No |
ClinGen Ensembl |
|
rs1334056340 CA354348100 |
184 | P>L | No |
ClinGen gnomAD |
|
rs200768845 CA2558413 |
195 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354348010 rs1576196700 |
197 | K>N | No |
ClinGen Ensembl |
|
CA354347934 rs1275534046 |
206 | Q>R | No |
ClinGen TOPMed |
|
CA354347924 rs1220893466 |
208 | V>L | No |
ClinGen gnomAD |
|
CA354347917 rs1371764974 |
209 | R>Q | No |
ClinGen gnomAD |
|
rs1433092365 CA354347897 |
212 | P>R | No |
ClinGen gnomAD |
|
rs759068324 CA2558390 |
212 | P>S | No |
ClinGen ExAC gnomAD |
|
CA354347891 rs1260622686 |
213 | N>S | No |
ClinGen gnomAD |
|
rs1308939025 CA354347880 |
215 | S>P | No |
ClinGen TOPMed |
|
CA354347845 rs1289744832 |
220 | R>W | No |
ClinGen gnomAD |
|
rs747385360 CA2558387 |
225 | P>L | No |
ClinGen ExAC gnomAD |
|
rs927477936 CA82397920 |
235 | T>N | No |
ClinGen TOPMed |
|
CA82397921 rs201448262 |
235 | T>P | No |
ClinGen Ensembl |
|
CA354347597 rs1263369470 |
237 | S>G | No |
ClinGen gnomAD |
|
rs200882593 CA2558363 |
240 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200882593 CA354346799 |
240 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558361 rs749385392 |
247 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770039569 CA2558359 |
256 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2558358 rs746833524 |
262 | G>D | No |
ClinGen ExAC gnomAD |
|
CA2558343 rs775594725 |
272 | V>A | No |
ClinGen ExAC gnomAD |
|
rs762995497 CA2558344 |
272 | V>I | No |
ClinGen ExAC |
|
rs200373768 CA81750998 |
278 | R>G | No |
ClinGen 1000Genomes |
|
CA2558342 rs770038325 |
278 | R>K | No |
ClinGen ExAC gnomAD |
|
CA2558341 rs568223760 |
279 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs773000672 CA2558340 |
282 | R>T | No |
ClinGen ExAC gnomAD |
|
rs771909190 CA2558339 |
286 | P>S | No |
ClinGen ExAC gnomAD |
|
rs549729441 CA2558336 |
295 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1441114375 CA354064451 |
302 | T>I | No |
ClinGen gnomAD |
|
CA81745084 rs140668532 |
304 | V>F | No |
ClinGen ESP TOPMed gnomAD |
|
CA2558296 COSM202574 rs768552900 COSM202573 |
306 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs762651036 CA2558295 |
306 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1036811 rs775606264 COSM1036812 CA2558294 |
308 | R>Q | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1336623593 CA354063818 |
309 | T>A | No |
ClinGen gnomAD |
|
CA2558293 rs769830542 |
310 | P>S | No |
ClinGen ExAC gnomAD |
|
CA354063792 rs1189501362 |
311 | P>L | No |
ClinGen TOPMed |
|
CA354063775 rs1299887852 |
313 | A>S | No |
ClinGen gnomAD |
|
rs780806364 CA2558291 |
315 | A>V | No |
ClinGen ExAC gnomAD |
|
CA2558289 rs746618679 |
318 | S>R | No |
ClinGen ExAC gnomAD |
|
CA2558288 rs199730714 |
319 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2558287 rs72548709 COSM1418061 COSM1418062 |
319 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs777620218 CA2558285 |
326 | T>A | No |
ClinGen ExAC gnomAD |
|
rs370810641 CA2558284 |
327 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
rs753950587 CA2558283 |
328 | R>* | No |
ClinGen ExAC gnomAD |
|
rs1388013918 CA354063596 |
331 | P>Q | No |
ClinGen TOPMed |
|
CA2558282 rs766379974 |
332 | L>V | No |
ClinGen ExAC gnomAD |
|
CA354063538 rs1320887967 |
336 | A>V | No |
ClinGen TOPMed |
|
CA2558280 rs750723548 |
337 | H>R | No |
ClinGen ExAC gnomAD |
|
CA81744971 rs966461009 |
345 | D>E | No |
ClinGen Ensembl |
|
CA354063430 rs1314952657 |
346 | P>S | No |
ClinGen gnomAD |
|
rs767602302 CA2558279 COSM48413 |
348 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs367873946 CA2558277 |
349 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2558278 rs367873946 |
349 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1247019169 CA354063366 |
351 | P>R | No |
ClinGen TOPMed |
|
rs759476802 CA2558275 |
354 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201790494 CA81744953 |
356 | T>A | No |
ClinGen 1000Genomes |
|
rs776291124 CA2558274 |
356 | T>I | No |
ClinGen ExAC gnomAD |
|
CA81744949 rs374033612 |
357 | P>A | No |
ClinGen ESP TOPMed |
|
CA81744941 rs201871343 |
359 | L>F | No |
ClinGen Ensembl |
|
rs1452045897 CA354063269 |
361 | N>D | No |
ClinGen gnomAD |
|
rs1347336963 CA354063266 |
361 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA354063249 rs1260902406 |
363 | T>I | No |
ClinGen TOPMed |
|
CA354063236 rs1199213155 |
365 | Q>H | No |
ClinGen gnomAD |
|
rs1424307475 CA354063242 |
365 | Q>K | No |
ClinGen TOPMed |
|
rs1255291178 CA354059997 |
370 | N>H | No |
ClinGen gnomAD |
|
rs1212959347 CA354059952 |
372 | P>L | No |
ClinGen gnomAD |
|
CA354059945 rs376972717 |
373 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2558253 rs376972717 |
373 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760284146 CA2558252 |
375 | T>N | No |
ClinGen ExAC gnomAD |
|
CA81733310 rs961026103 |
378 | I>M | No |
ClinGen Ensembl |
|
rs1044741713 CA81733316 |
378 | I>T | No |
ClinGen TOPMed |
|
rs865826940 CA81733309 |
379 | P>L | No |
ClinGen Ensembl |
|
CA81733308 rs201010589 |
381 | H>R | No |
ClinGen gnomAD |
|
rs772550262 CA2558251 |
381 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA2558250 COSM1036809 COSM1036810 rs149631706 |
383 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs978775582 CA81733298 |
388 | A>P | No |
ClinGen Ensembl |
|
rs896088058 CA81733292 |
389 | S>* | No |
ClinGen Ensembl |
|
rs200933546 CA2558249 |
390 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA354059653 rs369649606 |
391 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
rs369649606 CA81733277 |
391 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
CA81733268 rs967006187 |
392 | T>A | No |
ClinGen Ensembl |
|
rs780658325 CA2558245 |
393 | N>K | No |
ClinGen ExAC gnomAD |
|
CA81733261 rs549169441 |
394 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2558244 rs549169441 |
394 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354059590 rs549169441 |
394 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201103601 CA2558243 |
395 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558242 rs781064367 |
396 | A>T | No |
ClinGen ExAC gnomAD |
|
CA2558241 rs139402886 |
397 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767410640 CA2558214 |
402 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354064405 rs1559797928 |
402 | T>I | No |
ClinGen Ensembl |
|
rs202055878 CA2558213 |
405 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs202055878 CA354064389 |
405 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558212 rs141519181 |
405 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA354064370 rs1405720494 |
408 | T>A | No |
ClinGen gnomAD |
|
rs1384008314 CA354064368 |
408 | T>I | No |
ClinGen gnomAD |
|
rs775934133 CA2558209 |
411 | A>S | No |
ClinGen ExAC gnomAD |
|
rs775934133 CA2558210 |
411 | A>T | No |
ClinGen ExAC gnomAD |
|
CA354064236 rs1193074453 |
414 | A>V | No |
ClinGen gnomAD |
|
rs201770515 CA2558206 |
416 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354064219 rs1194528845 |
417 | S>C | No |
ClinGen gnomAD |
|
CA354064221 rs1194528845 |
417 | S>F | No |
ClinGen gnomAD |
|
rs771546683 CA2558205 |
418 | N>S | No |
ClinGen ExAC gnomAD |
|
rs771546683 CA354064215 |
418 | N>T | No |
ClinGen ExAC gnomAD |
|
CA354064209 rs1282597500 |
419 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA354064203 rs1222836539 |
420 | T>A | No |
ClinGen gnomAD |
|
CA354064204 rs1222836539 |
420 | T>P | No |
ClinGen gnomAD |
No associated diseases with P49841
4 regional properties for P49841
Functions
13 GO annotations of cellular component
Name | Definition |
---|---|
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. |
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
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. |
dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
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. |
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. |
postsynapse | The part of a synapse that is part of the post-synaptic cell. |
Wnt signalosome | A multiprotein protein complex containing membrane-localized Wnt receptors and cytosolic protein complexes, which is capable of transmitting the Wnt signal. Contains at least a Wnt protein, LRP5 or LRP6, a member of the Frizzled (Fz) family, Axin and and a Dishevelled (DVL) protein. |
17 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
beta-catenin binding | Binding to a catenin beta subunit. |
dynactin binding | Binding to a dynactin complex; a large protein complex that activates dynein-based motor activity. |
kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
NF-kappaB binding | Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters. |
p53 binding | Binding to one of the p53 family of proteins. |
protease binding | Binding to a protease or a peptidase. |
protein kinase A catalytic subunit binding | Binding to one or both of the catalytic subunits of protein kinase A. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
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. |
RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
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. |
ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
71 GO annotations of biological process
Name | Definition |
---|---|
beta-catenin destruction complex disassembly | The disaggregation of a beta-catenin destruction complex into its constituent components. |
cellular response to amyloid-beta | 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 amyloid-beta stimulus. |
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 retinoic acid | 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 retinoic acid stimulus. |
circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
dopamine receptor signaling pathway | The series of molecular signals generated as a consequence of a dopamine receptor binding to one of its physiological ligands. |
epithelial to mesenchymal transition | A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
ER overload response | The series of molecular signals initiated by the accumulation of normal or misfolded proteins in the endoplasmic reticulum and leading to activation of transcription by NF-kappaB. |
establishment of cell polarity | The specification and formation of anisotropic intracellular organization or cell growth patterns. |
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. |
hippocampus development | The progression of the hippocampus over time from its initial formation until its mature state. |
insulin receptor signaling pathway | The series of molecular signals generated as a consequence of the insulin receptor binding to insulin. |
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. |
maintenance of cell polarity | The maintenance of established anisotropic intracellular organization or cell growth patterns. |
negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
negative regulation of calcineurin-NFAT signaling cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of the calcineurin-NFAT signaling cascade. |
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 canonical Wnt signaling pathway involved in osteoblast differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of canonical Wnt signaling pathway involved in osteoblast differentiation. |
negative regulation of dopaminergic neuron differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of dopaminergic neuron differentiation. |
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors. |
negative regulation of gene expression | Any process that decreases 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). |
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 mesenchymal stem cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal stem cell differentiation. |
negative regulation of neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. |
negative regulation of phosphoprotein phosphatase activity | Any process that stops or reduces the activity of a phosphoprotein phosphatase. |
negative regulation of protein acetylation | Any process that stops, prevents or reduces the frequency, rate or extent of protein acetylation. |
negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
negative regulation of protein localization to nucleus | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. |
negative regulation of protein-containing complex assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. |
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. |
neuron projection development | 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). |
neuron projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a neuron, e.g. an axon, or a dendrite. |
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 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 cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
positive regulation of cell-matrix adhesion | Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix. |
positive regulation of cilium assembly | Any process that activates or increases the frequency, rate or extent of the formation of a cilium. |
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 GTPase activity | Any process that activates or increases the activity of a GTPase. |
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 mitochondrion organization | Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. |
positive regulation of neuron death | Any process that activates or increases the frequency, rate or extent of neuron death. |
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 binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
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 export from nucleus | Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm. |
positive regulation of protein localization to centrosome | Any process that activates or increases the frequency, rate or extent of protein localization to centrosome. |
positive regulation of protein localization to cilium | Any process that activates or increases the frequency, rate or extent of protein localization to cilium. |
positive regulation of protein-containing complex assembly | Any process that activates or increases the frequency, rate or extent of protein complex assembly. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of axon extension | Any process that modulates the rate, direction or extent of axon extension. |
regulation of axonogenesis | Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. |
regulation of cellular response to heat | Any process that modulates the frequency, rate or extent of cellular response to heat. |
regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
regulation of dendrite morphogenesis | Any process that modulates the frequency, rate or extent of dendrite morphogenesis. |
regulation of long-term synaptic potentiation | Any process that modulates the frequency, rate or extent of long-term synaptic potentiation. |
regulation of microtubule anchoring at centrosome | Any process that modulates the frequency, rate or extent of microtubule anchoring at centrosome. |
regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
regulation of microtubule-based process | Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. |
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 protein export from nucleus | Any process that modulates the frequency, rate or extent of the directed movement of proteins from the nucleus to the cytoplasm. |
regulation of synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
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. |
superior temporal gyrus development | The process whose specific outcome is the progression of the superior temporal gyrus over time, from its formation to the mature structure. The superior temporal gyrus is a portion of the cerebral cortex that extends from the lateral sulcus to the superior temporal sulcus. |
viral protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein. |
11 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P18431 | sgg | Protein kinase shaggy | Drosophila melanogaster (Fruit fly) | SS |
P49840 | GSK3A | Glycogen synthase kinase-3 alpha | Homo sapiens (Human) | PR |
Q80YS9 | Stkld1 | Serine/threonine kinase-like domain-containing protein STKLD1 | Mus musculus (Mouse) | PR |
Q2NL51 | Gsk3a | Glycogen synthase kinase-3 alpha | Mus musculus (Mouse) | SS |
Q9WV60 | Gsk3b | Glycogen synthase kinase-3 beta | Mus musculus (Mouse) | EV |
P18265 | Gsk3a | Glycogen synthase kinase-3 alpha | Rattus norvegicus (Rat) | PR |
P18266 | Gsk3b | Glycogen synthase kinase-3 beta | 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 |
MSGRPRTTSF | AESCKPVQQP | SAFGSMKVSR | DKDGSKVTTV | VATPGQGPDR | PQEVSYTDTK |
70 | 80 | 90 | 100 | 110 | 120 |
VIGNGSFGVV | YQAKLCDSGE | LVAIKKVLQD | KRFKNRELQI | MRKLDHCNIV | RLRYFFYSSG |
130 | 140 | 150 | 160 | 170 | 180 |
EKKDEVYLNL | VLDYVPETVY | RVARHYSRAK | QTLPVIYVKL | YMYQLFRSLA | YIHSFGICHR |
190 | 200 | 210 | 220 | 230 | 240 |
DIKPQNLLLD | PDTAVLKLCD | FGSAKQLVRG | EPNVSYICSR | YYRAPELIFG | ATDYTSSIDV |
250 | 260 | 270 | 280 | 290 | 300 |
WSAGCVLAEL | LLGQPIFPGD | SGVDQLVEII | KVLGTPTREQ | IREMNPNYTE | FKFPQIKAHP |
310 | 320 | 330 | 340 | 350 | 360 |
WTKVFRPRTP | PEAIALCSRL | LEYTPTARLT | PLEACAHSFF | DELRDPNVKL | PNGRDTPALF |
370 | 380 | 390 | 400 | 410 | |
NFTTQELSSN | PPLATILIPP | HARIQAAAST | PTNATAASDA | NTGDRGQTNN | AASASASNST |