Q9UBE8
SS
Gene name |
NLK (LAK1) |
Protein name |
Serine/threonine-protein kinase NLK |
Names |
EC 2.7.11.24 , Nemo-like kinase , Protein LAK1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51701 |
EC number |
2.7.11.24: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
MAPK1 encodes Mitogen-activated protein kinase 1, and is involved in diverse cellular responses by phosphorylating cytoplasmic and nuclear proteins. Unlike other MAP kinases, MAPK1 activates via dual phosphorylation of Thr-186 and Tyr-193 within the activation lip, and mutations at Q105 alone were sufficient for autoactivation. Additionally, in the inactive form, L76, Q10 and I87 form a structural unit that restrains intramolecular autophosphorylation by preventing interactions between activation lip residues and the catalytic base (D149) needed for phosphoryl transfer. Mutations at L76, I87 and additionally S153 increased basal specific activity via autophosphorylation of Thr-186 and Tyr-193.
Autoinhibitory domains (AIDs)
Target domain |
97-427 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
281-305 (Activation loop from InterPro)
Target domain |
138-428 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Emrick MA et al. (2006) "The gatekeeper residue controls autoactivation of ERK2 via a pathway of intramolecular connectivity", Proceedings of the National Academy of Sciences of the United States of America, 103, 18101-6
- Emrick MA et al. (2001) "Constitutive activation of extracellular signal-regulated kinase 2 by synergistic point mutations", The Journal of biological chemistry, 276, 46469-79
Autoinhibited structure
Activated structure
1 structures for Q9UBE8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBE8-F1 | Predicted | AlphaFoldDB |
376 variants for Q9UBE8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1210231697 | 3 | L>F | No |
TOPMed gnomAD |
|
| rs1210231697 | 3 | L>V | No |
TOPMed gnomAD |
|
| rs1242973064 | 6 | A>G | No |
TOPMed gnomAD |
|
| rs977628879 | 6 | A>S | No |
TOPMed gnomAD |
|
|
rs977628879 COSM2799904 |
6 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs779603950 | 8 | A>V | No | gnomAD | |
| rs776240333 | 9 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs776240333 | 9 | N>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1457260817 | 11 | K>E | No | gnomAD | |
| rs1908905168 | 15 | A>S | No | gnomAD | |
| rs1193499577 | 17 | N>D | No |
TOPMed gnomAD |
|
| rs1908905806 | 17 | N>S | No | gnomAD | |
| rs759282856 | 18 | G>A | No |
ExAC gnomAD |
|
| rs759282856 | 18 | G>D | No |
ExAC gnomAD |
|
| rs1908906251 | 18 | G>S | No | Ensembl | |
|
COSM1217417 rs1357123732 |
19 | G>S | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs938691761 | 19 | G>V | No | Ensembl | |
| rs1230218598 | 20 | T>A | No | TOPMed | |
| rs1908907856 | 21 | S>C | No | Ensembl | |
| rs2142725697 | 22 | A>E | No | Ensembl | |
| rs775357752 | 22 | A>T | No |
ExAC gnomAD |
|
| rs762649011 | 23 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1286392190 | 24 | A>S | No | gnomAD | |
| rs1908909231 | 24 | A>V | No | TOPMed | |
| rs1052839934 | 25 | A>P | No |
TOPMed gnomAD |
|
| rs1210016443 | 25 | A>V | No | gnomAD | |
| rs1908910188 | 27 | H>D | No | Ensembl | |
| rs1597647358 | 27 | H>P | No | TOPMed | |
| rs1908912152 | 33 | H>R | No | TOPMed | |
| rs372033263 | 33 | H>Y | No | Ensembl | |
| rs1472694361 | 34 | H>N | No | gnomAD | |
| rs993196094 | 35 | L>F | No |
TOPMed gnomAD |
|
| rs993196094 | 35 | L>V | No |
TOPMed gnomAD |
|
| rs1908912912 | 36 | P>L | No | Ensembl | |
| rs138590503 | 36 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1908913041 | 37 | H>Y | No | TOPMed | |
| rs1908913544 | 39 | P>R | No | gnomAD | |
| rs746690979 | 39 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs372024114 | 40 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1377209576 | 40 | P>S | No |
TOPMed gnomAD |
|
| rs1370984159 | 41 | P>H | No | gnomAD | |
| rs1307215495 | 41 | P>S | No |
TOPMed gnomAD |
|
| rs1365577498 | 44 | H>L | No | gnomAD | |
| rs1908915231 | 45 | H>R | No | Ensembl | |
| rs780137511 | 46 | H>Y | No | ExAC | |
| rs1304738187 | 47 | H>Q | No | gnomAD | |
| rs147063478 | 47 | H>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs931169451 | 49 | P>A | No | TOPMed | |
| rs1365985502 | 49 | P>L | No | gnomAD | |
| rs931169451 | 49 | P>S | No | TOPMed | |
| rs1597647524 | 51 | H>R | No | Ensembl | |
| rs1203411505 | 51 | H>Y | No |
TOPMed gnomAD |
|
| rs1908916627 | 52 | H>D | No |
TOPMed gnomAD |
|
| rs1483617375 | 53 | L>I | No | gnomAD | |
| rs1206175610 | 53 | L>P | No | gnomAD | |
| rs1483617375 | 53 | L>V | No | gnomAD | |
| rs1244623624 | 54 | H>N | No |
TOPMed gnomAD |
|
| rs1908917562 | 54 | H>R | No | Ensembl | |
| rs1244623624 | 54 | H>Y | No |
TOPMed gnomAD |
|
| rs1908917821 | 56 | G>E | No | gnomAD | |
| rs1489755911 | 57 | S>A | No |
TOPMed gnomAD |
|
| rs1396768289 | 58 | A>P | No | gnomAD | |
| rs1396768289 | 58 | A>T | No | gnomAD | |
| rs776384519 | 60 | A>T | No |
ExAC gnomAD |
|
| rs1908919026 | 61 | V>I | No | Ensembl | |
| rs1908919566 | 62 | H>Q | No | Ensembl | |
| rs748633185 | 62 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1411520590 | 62 | H>Y | No |
TOPMed gnomAD |
|
| rs137866267 | 63 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs137866267 | 63 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs137866267 | 63 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs974900188 | 64 | V>A | No |
TOPMed gnomAD |
|
|
COSM976829 rs544118935 |
64 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA |
| rs1908920483 | 65 | Q>E | No | TOPMed | |
| rs1908920610 | 66 | Q>R | No | TOPMed | |
| rs769633651 | 67 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1597647621 | 68 | T>P | No | Ensembl | |
| rs1297595444 | 69 | S>C | No | gnomAD | |
|
rs1908921512 COSM4595561 |
70 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1908921385 | 70 | S>T | No | Ensembl | |
| rs1908922058 | 71 | A>S | No | TOPMed | |
| rs1567697291 | 71 | A>V | No | gnomAD | |
| rs35759650 | 72 | A>D | No | Ensembl | |
| rs899517937 | 72 | A>T | No | Ensembl | |
| rs1908923314 | 73 | A>V | No | gnomAD | |
| rs767378058 | 76 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM976831 rs767378058 |
76 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1221901541 | 76 | A>V | No | gnomAD | |
| rs750570222 | 77 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs750570222 | 77 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs750570222 | 77 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780017549 | 78 | A>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2142726267 | 79 | A>D | No | Ensembl | |
| rs2142726267 | 79 | A>G | No | Ensembl | |
| rs1908925493 | 79 | A>T | No | TOPMed | |
| rs1246657000 | 80 | A>V | No | gnomAD | |
| rs1908926258 | 81 | A>T | No | TOPMed | |
| rs1344988607 | 82 | A>T | No |
TOPMed gnomAD |
|
| rs1908926770 | 83 | A>T | No | Ensembl | |
| rs968848628 | 83 | A>V | No |
TOPMed gnomAD |
|
| rs753976077 | 84 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs755186700 | 86 | N>K | No |
ExAC gnomAD |
|
| rs1396778592 | 87 | P>L | No |
TOPMed gnomAD |
|
| rs1396778592 | 87 | P>R | No |
TOPMed gnomAD |
|
| rs1325040973 | 87 | P>T | No | Ensembl | |
| rs916964934 | 88 | G>E | No |
TOPMed gnomAD |
|
| rs753051288 | 90 | Q>H | No |
ExAC gnomAD |
|
| rs1908928225 | 91 | Q>R | No |
TOPMed gnomAD |
|
| rs1391387868 | 92 | P>L | No |
TOPMed gnomAD |
|
| rs1282755665 | 94 | F>L | No | gnomAD | |
| COSM976833 | 96 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1467731369 | 97 | P>R | No |
TOPMed gnomAD |
|
| rs745425908 | 99 | P>L | No |
ExAC gnomAD |
|
| rs779792619 | 100 | G>E | No |
ExAC TOPMed gnomAD |
|
| COSM3515302 | 100 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3515304 | 103 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1908930026 | 105 | P>L | No | TOPMed | |
| rs2080916100 | 105 | P>S | No | Ensembl | |
| rs1240015996 | 106 | A>P | No |
TOPMed gnomAD |
|
| rs769658044 | 108 | A>G | No |
TOPMed gnomAD |
|
| rs1908930870 | 111 | A>G | No | TOPMed | |
| TCGA novel | 112 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1908931005 | 112 | Q>R | No | Ensembl | |
| rs960534453 | 113 | V>L | No | Ensembl | |
| rs1908931257 | 114 | Q>R | No | Ensembl | |
| rs1473040405 | 116 | A>G | No |
TOPMed gnomAD |
|
| rs529514665 | 116 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs529514665 | 116 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1473040405 | 116 | A>V | No |
TOPMed gnomAD |
|
| COSM4064872 | 117 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772056242 | 117 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs773112981 | 120 | T>A | No |
ExAC gnomAD |
|
| rs1201742809 | 120 | T>I | No | TOPMed | |
| rs1597647863 | 121 | V>G | No | Ensembl | |
| rs1908932269 | 121 | V>I | No | TOPMed | |
| rs1597647865 | 123 | A>T | No | Ensembl | |
| rs878982056 | 125 | H>R | No |
TOPMed gnomAD |
|
| rs1279500512 | 125 | H>Y | No | Ensembl | |
| rs112291766 | 126 | H>Q | No | 1000Genomes | |
| rs1567697436 | 128 | H>P | No |
TOPMed gnomAD |
|
| rs1567697436 | 128 | H>R | No |
TOPMed gnomAD |
|
| rs1221145320 | 129 | S>L | No |
TOPMed gnomAD |
|
| rs1269835776 | 130 | H>R | No |
TOPMed gnomAD |
|
| rs1360065366 | 130 | H>Y | No |
TOPMed gnomAD |
|
| rs1908934548 | 131 | H>Y | No | gnomAD | |
| COSM705866 | 132 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142726537 | 137 | D>G | No | Ensembl | |
| rs970068856 | 138 | I>M | No |
TOPMed gnomAD |
|
| rs201738749 | 138 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1908935902 | 141 | D>A | No | Ensembl | |
| rs113889392 | 144 | I>V | No | Ensembl | |
| rs776575681 | 157 | D>E | No |
ExAC gnomAD |
|
| COSM3691445 | 158 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM291285 | 165 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1344661286 | 169 | M>L | No | gnomAD | |
| rs775830724 | 170 | P>R | No |
ExAC gnomAD |
|
| rs1597694635 | 170 | P>S | No | Ensembl | |
| rs1455063821 | 171 | N>K | No |
TOPMed gnomAD |
|
| rs1394968756 | 171 | N>S | No |
TOPMed gnomAD |
|
| rs777733277 | 172 | V>I | No |
TOPMed gnomAD |
|
| rs1906116930 | 174 | Q>K | No | TOPMed | |
| TCGA novel | 175 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764581067 | 176 | L>V | No |
ExAC TOPMed gnomAD |
|
|
VAR_019549 rs11871287 |
177 | V>A | No |
UniProt Ensembl dbSNP |
|
| rs1429512273 | 177 | V>L | No | gnomAD | |
| TCGA novel | 180 | K>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4064874 | 181 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751918577 | 184 | R>P | No |
ExAC gnomAD |
|
|
COSM1302531 rs751918577 |
184 | R>Q | urinary_tract [Cosmic] | No |
cosmic curated ExAC gnomAD |
| TCGA novel | 184 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749052394 | 188 | M>L | No | Ensembl | |
| COSM976837 | 188 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1906119250 | 190 | C>F | No | Ensembl | |
| rs896976573 | 190 | C>R | No | gnomAD | |
| rs1466915581 | 190 | C>W | No |
TOPMed gnomAD |
|
| COSM1381616 | 192 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 192 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757713789 | 193 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs757713789 | 193 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs147495208 | 197 | V>A | No |
ESP ExAC gnomAD |
|
| rs1906568529 | 199 | S>F | No |
TOPMed gnomAD |
|
| rs1264282347 | 199 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1906568692 | 200 | A>S | No | Ensembl | |
| rs1175668212 | 201 | L>F | No | gnomAD | |
| rs1175668212 | 201 | L>V | No | gnomAD | |
| rs374756879 | 204 | L>F | No |
ESP gnomAD |
|
| rs750913329 | 208 | H>L | No |
ExAC gnomAD |
|
| TCGA novel | 209 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764749916 | 209 | I>V | No |
ExAC gnomAD |
|
| rs1036185484 | 210 | D>G | No | TOPMed | |
| rs370252797 | 211 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs958867306 | 211 | Y>H | No |
TOPMed gnomAD |
|
| TCGA novel | 212 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs561707284 | 215 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1907988154 | 216 | Y>* | No | TOPMed | |
|
rs1372146196 COSM94829 |
216 | Y>C | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1372146196 | 216 | Y>F | No |
TOPMed gnomAD |
|
| rs1567732320 | 227 | H>R | No | Ensembl | |
| rs756815191 | 230 | I>N | No | ExAC | |
| rs770845257 | 231 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1907990337 | 232 | S>C | No | TOPMed | |
| rs750122475 | 235 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1453675203 | 236 | L>V | No | gnomAD | |
| TCGA novel | 237 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs112428184 | 240 | H>R | No | Ensembl | |
| COSM3421355 | 244 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 245 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1427659038 | 249 | L>S | No | gnomAD | |
| COSM2799978 | 250 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs111893191 | 250 | R>Q | No | Ensembl | |
| rs1410696976 | 258 | A>S | No | gnomAD | |
| rs2142049890 | 259 | G>D | No | Ensembl | |
| rs1484217379 | 259 | G>S | No |
TOPMed gnomAD |
|
| rs1258152403 | 260 | I>V | No | TOPMed | |
| rs147671384 | 265 | I>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs147671384 | 265 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs772972333 | 280 | I>V | No |
ExAC TOPMed gnomAD |
|
| COSM1381622 | 283 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4897643 | 286 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4064876 | 287 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1908332546 | 290 | E>Q | No | TOPMed | |
| rs1433401875 | 292 | D>N | No | gnomAD | |
| rs1233555464 | 293 | E>A | No | gnomAD | |
| rs753631075 | 293 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1908333496 | 294 | S>T | No | Ensembl | |
|
rs759524227 COSM976839 |
295 | R>C | endometrium [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs765080784 | 295 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs765080784 | 295 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1047696638 | 296 | H>P | No |
TOPMed gnomAD |
|
| rs1908334716 | 297 | M>L | No | TOPMed | |
| rs758386656 | 301 | V>I | No |
ExAC gnomAD |
|
| rs911428299 | 309 | P>A | No | Ensembl | |
| TCGA novel | 309 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 312 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1468730664 | 314 | G>D | No |
TOPMed gnomAD |
|
| rs1908336918 | 315 | S>G | No | TOPMed | |
| rs1158486100 | 316 | R>C | No | gnomAD | |
| rs142693011 | 316 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs182961914 | 320 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs1908338286 | 321 | A>T | No | Ensembl | |
| rs150999194 | 322 | I>V | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 323 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1251408160 | 325 | W>* | No | gnomAD | |
|
rs1414954380 COSM436223 |
327 | V>M | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| COSM1381624 | 329 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1908339134 | 332 | A>S | No | Ensembl | |
| rs1567734875 | 336 | G>E | No | Ensembl | |
| rs771517009 | 337 | R>Q | No |
ExAC gnomAD |
|
| rs1908340176 | 342 | Q>H | No | TOPMed | |
| rs772800202 | 343 | A>S | No |
ExAC TOPMed gnomAD |
|
| VAR_042273 | 343 | A>T | a glioblastoma multiforme sample; somatic mutation [UniProt] | No | UniProt |
| rs1352796336 | 344 | Q>E | No | gnomAD | |
| rs760417549 | 344 | Q>L | No | ExAC | |
| rs760417549 | 344 | Q>R | No | ExAC | |
| rs770643132 | 346 | P>S | No |
ExAC gnomAD |
|
| rs1284972573 | 347 | I>V | No | TOPMed | |
| COSM4932361 | 350 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1908505002 | 351 | D>G | No | gnomAD | |
| rs1908505002 | 351 | D>V | No | gnomAD | |
| rs1162295500 | 351 | D>Y | No | gnomAD | |
| rs1459145906 | 353 | I>V | No | gnomAD | |
| rs769149468 | 354 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1454961941 | 355 | D>N | No | gnomAD | |
| rs769507583 | 369 | C>F | No |
ExAC TOPMed gnomAD |
|
| rs769507583 | 369 | C>S | No |
ExAC TOPMed gnomAD |
|
| rs1908507059 | 370 | E>Q | No | Ensembl | |
| rs1456006883 | 371 | G>A | No |
TOPMed gnomAD |
|
| rs911610122 | 372 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1186355717 | 374 | A>G | No | gnomAD | |
| rs762807161 | 374 | A>S | No |
ExAC gnomAD |
|
| rs762807161 | 374 | A>T | No |
ExAC gnomAD |
|
| rs1475960751 | 375 | H>P | No | TOPMed | |
| rs894371684 | 376 | I>V | No | TOPMed | |
| rs1325652433 | 378 | R>G | No | gnomAD | |
| rs1226887078 | 379 | G>S | No |
TOPMed gnomAD |
|
| rs1435116420 | 380 | P>A | No |
TOPMed gnomAD |
|
| rs1908509156 | 380 | P>H | No | TOPMed | |
| rs1908509156 | 380 | P>L | No | TOPMed | |
| rs1252171461 | 381 | H>D | No | gnomAD | |
| rs1908509528 | 381 | H>R | No | Ensembl | |
| rs1211502506 | 382 | K>N | No | TOPMed | |
| TCGA novel | 385 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 390 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780808743 | 394 | S>T | No |
ExAC gnomAD |
|
| rs1909068456 | 395 | Q>H | No | TOPMed | |
| rs1909068316 | 395 | Q>R | No | TOPMed | |
| rs1268228466 | 396 | A>G | No | TOPMed | |
| rs1259546336 | 397 | T>P | No | gnomAD | |
| rs1485735310 | 398 | H>R | No |
TOPMed gnomAD |
|
| rs1284428943 | 401 | V>I | No |
TOPMed gnomAD |
|
| rs1240103082 | 403 | L>V | No | TOPMed | |
| rs1909070062 | 404 | L>I | No | TOPMed | |
| TCGA novel | 405 | C>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1351789271 | 405 | C>Y | No | TOPMed | |
| rs1417864796 | 407 | M>L | No | gnomAD | |
| rs1281692818 | 409 | V>F | No |
TOPMed gnomAD |
|
| rs562720805 | 413 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1172667380 | 414 | K>E | No | TOPMed | |
| rs1172667380 | 414 | K>Q | No | TOPMed | |
| rs1406643578 | 414 | K>R | No | gnomAD | |
| rs753287960 | 415 | R>G | No |
ExAC gnomAD |
|
| rs1160396760 | 417 | S>T | No | gnomAD | |
| rs780577940 | 418 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1446300654 | 420 | D>A | No | TOPMed | |
| rs1909288952 | 420 | D>N | No | Ensembl | |
| rs1446300654 | 420 | D>V | No | TOPMed | |
| rs1173227601 | 422 | L>V | No | gnomAD | |
| rs745306145 | 423 | A>T | No |
ExAC gnomAD |
|
| rs1296475275 | 425 | P>H | No | gnomAD | |
| rs1218472516 | 427 | L>I | No |
TOPMed gnomAD |
|
| rs2142073754 | 428 | D>E | No | Ensembl | |
| COSM3795364 | 428 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM705862 | 431 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs548508601 | 431 | R>Q | No |
1000Genomes ExAC gnomAD |
|
| rs35104651 | 433 | R>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs768473992 | 436 | T>I | No |
ExAC gnomAD |
|
| rs774087749 | 437 | C>Y | No |
ExAC gnomAD |
|
| rs1234080888 | 445 | T>I | No |
TOPMed gnomAD |
|
| rs1280558456 | 447 | T>A | No | gnomAD | |
| TCGA novel | 448 | G>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1909291484 | 451 | Y>F | No | TOPMed | |
| rs1909291330 | 451 | Y>N | No | TOPMed | |
| rs1399649052 | 453 | S>G | No | gnomAD | |
| rs1313541021 | 457 | P>L | No | gnomAD | |
| rs748101121 | 459 | T>I | No | ExAC | |
| rs1909292289 | 459 | T>S | No | Ensembl | |
| rs748101121 | 459 | T>S | No | ExAC | |
| rs959478611 | 460 | N>D | No |
TOPMed gnomAD |
|
| rs1235375029 | 461 | P>S | No | Ensembl | |
| rs1909292667 | 462 | K>R | No | Ensembl | |
| rs146705461 | 463 | F>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1909292946 | 465 | D>G | No | gnomAD | |
| rs760796397 | 466 | T>A | No |
ExAC gnomAD |
|
| rs1909293383 | 466 | T>S | No | TOPMed | |
| rs34059108 | 467 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2142073854 | 471 | L>I | No | Ensembl | |
| rs1300620135 | 471 | L>R | No | TOPMed | |
| rs1909294207 | 472 | S>T | No | TOPMed | |
| rs759790656 | 473 | S>F | No |
ExAC gnomAD |
|
| TCGA novel | 475 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs137886593 | 475 | R>Q | No |
ESP TOPMed gnomAD |
|
| rs765717442 | 476 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1184984367 | 479 | E>V | No | gnomAD | |
| rs1419135230 | 480 | I>M | No |
TOPMed gnomAD |
|
| rs1909324729 | 480 | I>V | No | TOPMed | |
| rs776802858 | 482 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1909325387 | 483 | Q>* | No |
TOPMed gnomAD |
|
| rs759851437 | 484 | F>L | No |
ExAC gnomAD |
|
| rs1909325796 | 485 | I>M | No | Ensembl | |
| rs1461322760 | 487 | E>Q | No | gnomAD | |
| rs1051601520 | 488 | Q>R | No | TOPMed | |
| rs1208725653 | 494 | V>A | No | gnomAD | |
| rs1444070253 | 494 | V>M | No |
TOPMed gnomAD |
|
| COSM3515312 | 496 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1458745038 | 499 | N>I | No |
TOPMed gnomAD |
|
| rs1909327408 | 500 | P>S | No | Ensembl | |
| rs1567743157 | 501 | Q>* | No | Ensembl | |
| rs1909327648 | 501 | Q>P | No | Ensembl | |
| rs776060087 | 503 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2142074642 | 503 | A>V | No | Ensembl | |
| rs1909328562 | 504 | A>G | No |
TOPMed gnomAD |
|
| rs1429126476 | 506 | K>N | No | gnomAD | |
| rs1597730096 | 509 | I>V | No | Ensembl | |
| rs1909329298 | 510 | S>T | No | Ensembl | |
| rs1909419417 | 514 | A>V | No | TOPMed | |
| rs775829084 | 516 | P>T | No |
ExAC gnomAD |
|
| rs923487613 | 520 | P>L | No | Ensembl | |
| rs749651980 | 521 | P>L | No | ExAC | |
| rs1909420686 | 523 | P>S | No | TOPMed | |
| rs904404429 | 525 | V>A | No | TOPMed | |
| rs774525686 | 525 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs762391043 | 527 | E>* | No |
ExAC gnomAD |
|
| rs762391043 | 527 | E>Q | No |
ExAC gnomAD |
No associated diseases with Q9UBE8
4 regional properties for Q9UBE8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 138 - 427 | IPR000719 |
| conserved_site | Mitogen-activated protein (MAP) kinase, conserved site | 173 - 276 | IPR003527 |
| active_site | Serine/threonine-protein kinase, active site | 260 - 272 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 144 - 167 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.24 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 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. |
| 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. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| MAP kinase activity | Catalysis of the reaction |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
| SH2 domain binding | Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to osmotic stress | 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 an increase or decrease in the concentration of solutes outside the organism or cell. |
| 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. |
| negative regulation of TORC1 signaling | Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling. |
| negative regulation of Wnt signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| serine phosphorylation of STAT protein | The process of introducing a phosphate group to a serine residue of a STAT (Signal Transducer and Activator of Transcription) protein. |
| transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| Wnt signaling pathway, calcium modulating pathway | The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors leads to an increase in intracellular calcium and activation of protein kinase C (PKC). |
42 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41808 | SMK1 | Sporulation-specific mitogen-activated protein kinase SMK1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q00772 | SLT2 | Mitogen-activated protein kinase SLT2/MPK1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P20794 | MAK | Serine/threonine-protein kinase MAK | Homo sapiens (Human) | PR |
| Q9UQ07 | MOK | MAPK/MAK/MRK overlapping kinase | Homo sapiens (Human) | PR |
| Q8TD08 | MAPK15 | Mitogen-activated protein kinase 15 | Homo sapiens (Human) | SS |
| P45984 | MAPK9 | Mitogen-activated protein kinase 9 | Homo sapiens (Human) | SS |
| P45983 | MAPK8 | Mitogen-activated protein kinase 8 | Homo sapiens (Human) | EV |
| P53779 | MAPK10 | Mitogen-activated protein kinase 10 | Homo sapiens (Human) | EV |
| P27361 | MAPK3 | Mitogen-activated protein kinase 3 | Homo sapiens (Human) | SS |
| P28482 | MAPK1 | Mitogen-activated protein kinase 1 | Homo sapiens (Human) | EV |
| P31152 | MAPK4 | Mitogen-activated protein kinase 4 | Homo sapiens (Human) | SS |
| Q16659 | MAPK6 | Mitogen-activated protein kinase 6 | Homo sapiens (Human) | SS |
| Q13164 | MAPK7 | Mitogen-activated protein kinase 7 | Homo sapiens (Human) | SS |
| P53778 | MAPK12 | Mitogen-activated protein kinase 12 | Homo sapiens (Human) | SS |
| O15264 | MAPK13 | Mitogen-activated protein kinase 13 | Homo sapiens (Human) | SS |
| Q15759 | MAPK11 | Mitogen-activated protein kinase 11 | Homo sapiens (Human) | SS |
| Q16539 | MAPK14 | Mitogen-activated protein kinase 14 | Homo sapiens (Human) | SS |
| Q5ZCI1 | MPK10 | Mitogen-activated protein kinase 10 | Oryza sativa subsp. japonica (Rice) | SS |
| Q75KK8 | MPK14 | Mitogen-activated protein kinase 14 | Oryza sativa subsp. japonica (Rice) | SS |
| Q53N72 | MPK15 | Mitogen-activated protein kinase 15 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6L5F7 | MPK17 | Mitogen-activated protein kinase 17 | Oryza sativa subsp. japonica (Rice) | SS |
| Q5VP69 | MPK16 | Mitogen-activated protein kinase 16 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6Z437 | MPK3 | Mitogen-activated protein kinase 3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q5Z859 | MPK4 | Mitogen-activated protein kinase 4 | Oryza sativa subsp. japonica (Rice) | SS |
| Q5VN19 | MPK11 | Mitogen-activated protein kinase 11 | Oryza sativa subsp. japonica (Rice) | SS |
| Q5Z9J0 | MPK12 | Mitogen-activated protein kinase 12 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6L5D4 | MPK9 | Mitogen-activated protein kinase 9 | Oryza sativa subsp japonica (Rice) | PR |
| Q67C40 | MPK7 | Mitogen-activated protein kinase 7 | Oryza sativa subsp. japonica (Rice) | SS |
| Q5SN53 | MPK8 | Mitogen-activated protein kinase 8 | Oryza sativa subsp. japonica (Rice) | SS |
| Q0E459 | MPK13 | Mitogen-activated protein kinase 13 | Oryza sativa subsp. japonica (Rice) | SS |
| Q9C5C0 | MPK18 | Mitogen-activated protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LUC3 | MPK19 | Mitogen-activated protein kinase 19 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9SJG9 | MPK20 | Mitogen-activated protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q8W4J2 | MPK16 | Mitogen-activated protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LM33 | MPK8 | Mitogen-activated protein kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q84M93 | MPK17 | Mitogen-activated protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O23236 | MPK14 | Mitogen-activated protein kinase 14 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q39027 | MPK7 | Mitogen-activated protein kinase 7 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q39022 | MPK2 | Mitogen-activated protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q39021 | MPK1 | Mitogen-activated protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9C9U4 | MPK15 | Mitogen-activated protein kinase 15 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LV37 | MPK9 | Mitogen-activated protein kinase 9 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLCGARANA | KMMAAYNGGT | SAAAAGHHHH | HHHHLPHLPP | PHLHHHHHPQ | HHLHPGSAAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VHPVQQHTSS | AAAAAAAAAA | AAAMLNPGQQ | QPYFPSPAPG | QAPGPAAAAP | AQVQAAAAAT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKAHHHQHSH | HPQQQLDIEP | DRPIGYGAFG | VVWSVTDPRD | GKRVALKKMP | NVFQNLVSCK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RVFRELKMLC | FFKHDNVLSA | LDILQPPHID | YFEEIYVVTE | LMQSDLHKII | VSPQPLSSDH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VKVFLYQILR | GLKYLHSAGI | LHRDIKPGNL | LVNSNCVLKI | CDFGLARVEE | LDESRHMTQE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VVTQYYRAPE | ILMGSRHYSN | AIDIWSVGCI | FAELLGRRIL | FQAQSPIQQL | DLITDLLGTP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SLEAMRTACE | GAKAHILRGP | HKQPSLPVLY | TLSSQATHEA | VHLLCRMLVF | DPSKRISAKD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALAHPYLDEG | RLRYHTCMCK | CCFSTSTGRV | YTSDFEPVTN | PKFDDTFEKN | LSSVRQVKEI |
| 490 | 500 | 510 | 520 | ||
| IHQFILEQQK | GNRVPLCINP | QSAAFKSFIS | STVAQPSEMP | PSPLVWE |