P41240
Gene name |
CSK |
Protein name |
Tyrosine-protein kinase CSK |
Names |
EC 2.7.10.2 , C-Src kinase , Protein-tyrosine kinase CYL |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1445 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
Autoinhibitory domains (AIDs)
Target domain |
9-70 (SH3 domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
195-444 (Protein kinase domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
331-351 (Activation loop from InterPro)
Target domain |
195-449 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Brian BF 4th et al. (2022) "SH3-domain mutations selectively disrupt Csk homodimerization or PTPN22 binding", Scientific reports, 12, 5875
- Ghose R et al. (2001) "A novel, specific interaction involving the Csk SH3 domain and its natural ligand", Nature structural biology, 8, 998-1004
- Hong E et al. (2004) "Solution structure and backbone dynamics of the non-receptor protein-tyrosine kinase-6 Src homology 2 domain", The Journal of biological chemistry, 279, 29700-8
- Ko S et al. (2009) "Structural basis of the auto-inhibition mechanism of nonreceptor tyrosine kinase PTK6", Biochemical and biophysical research communications, 384, 236-42
- Qiu H et al. (2002) "Regulation of the nonreceptor tyrosine kinase Brk by autophosphorylation and by autoinhibition", The Journal of biological chemistry, 277, 34634-41
Autoinhibited structure
Activated structure
272 variants for P41240
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1477359685 | 2 | S>T | No | gnomAD | |
| rs2063736526 | 3 | A>V | No | TOPMed | |
| rs1409275533 | 4 | I>V | No |
TOPMed gnomAD |
|
| rs758951634 | 7 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs758951634 | 7 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs749997068 | 7 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1158879587 | 9 | P>L | No | gnomAD | |
| rs779667521 | 9 | P>S | No |
ExAC gnomAD |
|
| rs2063742694 | 10 | S>P | No | TOPMed | |
| rs2063742782 | 11 | G>S | No | TOPMed | |
| rs2063742827 | 12 | T>I | No |
TOPMed gnomAD |
|
| rs1222737325 | 13 | E>* | No |
TOPMed gnomAD |
|
| rs1222737325 | 13 | E>K | No |
TOPMed gnomAD |
|
| TCGA novel | 14 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 14 | C>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2063742985 | 19 | N>D | No | Ensembl | |
| rs2063743024 | 19 | N>S | No | TOPMed | |
| rs747892475 | 22 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs572429345 | 25 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs572429345 | 25 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1678589 | 26 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1429627492 | 31 | C>R | No | Ensembl | |
| rs945128501 | 31 | C>W | No | TOPMed | |
| rs776646592 | 32 | K>Q | No | ExAC | |
| rs2063743547 | 32 | K>R | No | gnomAD | |
| COSM4056917 | 34 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1262834900 | 35 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 39 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775978864 | 41 | V>I | No |
ExAC TOPMed gnomAD |
|
| COSM1493511 | 44 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2063745965 VAR_041678 |
45 | P>L | No |
TOPMed UniProt |
|
| rs1481958129 | 53 | K>N | No |
TOPMed gnomAD |
|
| rs745947125 | 54 | V>L | No |
ExAC gnomAD |
|
| TCGA novel | 55 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1313037569 | 55 | G>S | No | gnomAD | |
|
COSM4056918 rs144688425 |
56 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs200009296 | 56 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1176856084 | 57 | E>K | No | TOPMed | |
| rs1367369609 | 58 | G>A | No | gnomAD | |
| COSM3503992 | 61 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1266338668 | 62 | A>T | No |
TOPMed gnomAD |
|
| rs1369181420 | 63 | N>S | No | gnomAD | |
| rs11553759 | 65 | V>F | No | Ensembl | |
| rs562760763 | 71 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1312171186 | 74 | G>D | No | gnomAD | |
| rs759095664 | 79 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2063747272 | 80 | M>T | No | TOPMed | |
| rs1247514280 | 80 | M>V | No | TOPMed | |
| rs1413143879 | 85 | G>S | No | gnomAD | |
| rs2063753016 | 86 | K>R | No | Ensembl | |
| rs1338069794 | 87 | I>V | No |
TOPMed gnomAD |
|
| rs2063753222 | 89 | R>W | No |
TOPMed gnomAD |
|
| rs2063753413 | 92 | A>G | No | gnomAD | |
| rs1318690448 | 92 | A>T | No | gnomAD | |
| rs763802749 | 93 | E>G | No |
ExAC gnomAD |
|
| COSM3794402 | 93 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751418156 | 94 | R>L | No |
ExAC TOPMed gnomAD |
|
|
COSM1189066 rs751418156 |
94 | R>Q | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2063753547 | 94 | R>W | No |
TOPMed gnomAD |
|
| rs750380440 | 97 | Y>C | No |
ExAC gnomAD |
|
| rs750380440 | 97 | Y>F | No |
ExAC gnomAD |
|
| rs767255442 | 97 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs750380440 | 97 | Y>S | No |
ExAC gnomAD |
|
| rs780001574 | 99 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780001574 | 99 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs1328560214 COSM5054487 |
107 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| TCGA novel | 108 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1177463069 | 109 | S>R | No | TOPMed | |
| rs150653589 | 111 | N>S | No |
ESP TOPMed |
|
| rs1477309088 | 113 | P>S | No | gnomAD | |
| rs2063754317 | 114 | G>R | No | Ensembl | |
| TCGA novel | 114 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2063754367 | 115 | D>H | No | Ensembl | |
| rs2063754415 | 117 | T>M | No | Ensembl | |
| rs2063754610 | 120 | V>M | No | TOPMed | |
| rs979623672 | 123 | D>E | No |
TOPMed gnomAD |
|
| rs1325558907 | 123 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs771405153 | 124 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2063754933 | 125 | K>R | No | gnomAD | |
| rs2063754973 | 128 | H>L | No | Ensembl | |
| COSM964902 | 128 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4056919 | 129 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1033335420 | 130 | R>H | No |
TOPMed gnomAD |
|
| rs1286085887 | 132 | M>R | No | gnomAD | |
| rs762515591 | 133 | Y>C | No |
ExAC gnomAD |
|
| rs2063755187 | 134 | H>R | No | gnomAD | |
| rs987781536 | 136 | S>N | No |
TOPMed gnomAD |
|
| rs763772785 | 136 | S>R | No |
ExAC gnomAD |
|
| COSM471062 | 138 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1374677580 | 140 | I>L | No | TOPMed | |
| rs1567218733 | 141 | D>N | No | TOPMed | |
| rs1340149747 | 142 | E>K | No |
TOPMed gnomAD |
|
| rs767310391 | 143 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1484250970 | 144 | V>L | No | gnomAD | |
| rs1220491616 | 145 | Y>C | No |
TOPMed gnomAD |
|
| rs2063755701 | 145 | Y>H | No | gnomAD | |
| rs1220491616 | 145 | Y>S | No |
TOPMed gnomAD |
|
| TCGA novel | 146 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1180413663 | 147 | E>Q | No | gnomAD | |
| rs1411541330 | 150 | M>L | No | gnomAD | |
| rs750164772 | 151 | Q>H | No |
ExAC gnomAD |
|
| rs2063771917 | 158 | S>T | No | TOPMed | |
| rs2063772052 | 160 | A>S | No | TOPMed | |
| COSM471063 | 162 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770536054 | 165 | T>M | No | Ensembl | |
| rs1451324956 | 166 | R>C | No | gnomAD | |
| rs1451324956 | 166 | R>G | No | gnomAD | |
| rs1186597974 | 166 | R>H | No | gnomAD | |
| rs2063772508 | 168 | I>N | No | TOPMed | |
| rs1466377939 | 170 | P>S | No | gnomAD | |
| rs770216524 | 172 | V>I | No |
ExAC gnomAD |
|
| rs778460459 | 173 | M>L | No |
ExAC gnomAD |
|
| COSM1301422 | 174 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1297530307 | 178 | A>T | No | gnomAD | |
| rs760205672 | 178 | A>V | No | ExAC | |
| COSM3401918 | 181 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2063773281 | 184 | Y>C | No | gnomAD | |
| rs2063773220 | 184 | Y>H | No | gnomAD | |
| rs2063773220 | 184 | Y>N | No | gnomAD | |
| rs759552485 | 185 | R>H | No |
ExAC gnomAD |
|
| rs1310202149 | 187 | G>D | No | gnomAD | |
| rs1348912854 | 189 | A>S | No | gnomAD | |
| rs1348912854 | 189 | A>T | No | gnomAD | |
| rs866908578 | 192 | M>I | No | Ensembl | |
| rs549434240 | 192 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1242628158 | 192 | M>T | No |
TOPMed gnomAD |
|
| rs549434240 | 192 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1051823960 | 194 | E>* | No | TOPMed | |
| rs890109964 | 194 | E>V | No | TOPMed | |
| rs372947242 | 200 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1481906626 | 202 | G>R | No |
TOPMed gnomAD |
|
| rs1483193519 | 204 | G>W | No |
TOPMed gnomAD |
|
| rs1567219233 | 207 | G>R | No | Ensembl | |
| rs780972244 | 209 | V>M | No |
ExAC gnomAD |
|
| rs745701299 | 210 | M>L | No |
ExAC gnomAD |
|
| rs1359726754 | 210 | M>T | No | gnomAD | |
| rs775362844 | 213 | D>E | No |
ExAC gnomAD |
|
| rs566346664 | 213 | D>N | No |
1000Genomes TOPMed gnomAD |
|
| rs1201384880 | 215 | R>* | No |
TOPMed gnomAD |
|
| rs997937990 | 215 | R>Q | No |
TOPMed gnomAD |
|
| rs768469694 | 218 | K>E | No |
ExAC gnomAD |
|
| rs774545610 | 218 | K>R | No |
ExAC TOPMed gnomAD |
|
|
rs767820258 COSM3387055 |
220 | A>T | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs971393786 | 221 | V>I | No |
TOPMed gnomAD |
|
| rs971393786 | 221 | V>L | No |
TOPMed gnomAD |
|
| rs1412911111 | 225 | K>R | No |
TOPMed gnomAD |
|
| rs536570468 | 226 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1361275369 | 226 | N>S | No |
TOPMed gnomAD |
|
| rs2141826180 | 227 | D>H | No | Ensembl | |
|
rs754136671 COSM1374569 |
228 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 230 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs990229117 | 230 | A>S | No | Ensembl | |
| rs2063781168 | 231 | Q>R | No | Ensembl | |
| rs967190286 | 238 | S>L | No |
TOPMed gnomAD |
|
| COSM4056920 | 240 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1484195423 | 242 | Q>K | No | gnomAD | |
| rs1179929961 | 243 | L>P | No | gnomAD | |
| rs766840083 | 244 | R>G | No |
TOPMed gnomAD |
|
| rs765816002 | 244 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs766840083 | 244 | R>W | No |
TOPMed gnomAD |
|
| rs2063783990 | 245 | H>R | No | Ensembl | |
| rs2063784096 | 248 | L>M | No | Ensembl | |
|
COSM195775 rs749945630 |
254 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA gnomAD |
| rs766534464 | 256 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs766534464 | 256 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1448172830 | 260 | G>S | No | gnomAD | |
|
COSM4056921 rs754759286 |
261 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2063784941 | 264 | I>V | No | TOPMed | |
| rs771931241 | 265 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs777897715 | 266 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs747080333 | 266 | T>S | No |
ExAC gnomAD |
|
| rs1443188273 | 269 | M>L | No | gnomAD | |
| rs771193750 | 269 | M>R | No | ExAC | |
| rs1235811612 | 272 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1281649576 | 276 | D>N | No | gnomAD | |
| rs1352830580 | 279 | R>L | No | gnomAD | |
| rs1376088793 | 280 | S>T | No | gnomAD | |
| rs2063793113 | 283 | R>Q | No | Ensembl | |
| rs545332946 | 283 | R>W | No | TOPMed | |
|
VAR_025203 rs34866753 RCV000885289 |
287 | G>D | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs749474606 | 288 | G>E | No |
ExAC gnomAD |
|
| rs780302906 | 288 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1242745809 | 290 | C>S | No | TOPMed | |
| rs1365027158 | 293 | K>M | No | gnomAD | |
| rs1450915839 | 295 | S>L | No | gnomAD | |
| rs756242690 | 298 | V>I | No | ExAC | |
| rs981252185 | 300 | E>G | No |
TOPMed gnomAD |
|
|
COSM5434397 rs754118184 |
300 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2063795991 | 307 | G>D | No | Ensembl | |
| rs2063796095 | 308 | N>S | No | TOPMed | |
| rs375481603 | 309 | N>Y | No |
ESP TOPMed gnomAD |
|
| rs779478770 | 311 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs779478770 | 311 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1383516475 | 316 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs1312749029 COSM169366 |
318 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
|
rs1567219689 COSM1195509 |
318 | R>H | lung [Cosmic] | No |
cosmic curated Ensembl |
| COSM1374570 | 319 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 321 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 321 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1194789965 | 326 | N>S | No | gnomAD | |
| rs1272128188 | 326 | N>Y | No | TOPMed | |
| rs774910976 | 327 | V>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1385100717 | 332 | D>N | No | gnomAD | |
| rs2063797148 | 333 | F>S | No | Ensembl | |
| rs768298004 | 337 | K>E | No | ExAC | |
| rs1050199703 | 338 | E>D | No | Ensembl | |
| rs1450511331 | 339 | A>V | No | gnomAD | |
| rs2063797335 | 341 | S>G | No | gnomAD | |
| rs906627853 | 341 | S>N | No |
TOPMed gnomAD |
|
| rs767170810 | 345 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs760464941 | 347 | K>N | No |
ExAC gnomAD |
|
| rs2141102593 | 349 | P>S | No | Ensembl | |
| rs1596373768 | 352 | W>C | No | Ensembl | |
| rs2063797723 | 353 | T>A | No | Ensembl | |
| rs2063797772 | 353 | T>I | No | TOPMed | |
| rs1596373772 | 354 | A>D | No | Ensembl | |
| TCGA novel | 354 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1596373775 | 355 | P>L | No | Ensembl | |
| TCGA novel | 361 | K>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759665126 | 369 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1479570035 | 373 | G>R | No | gnomAD | |
| rs2063800661 | 375 | L>F | No | TOPMed | |
| rs2063800837 | 380 | Y>C | No | Ensembl | |
| rs1377869916 | 384 | R>* | No | TOPMed | |
| rs2063800924 | 390 | I>T | No |
TOPMed gnomAD |
|
|
rs374867799 COSM332663 |
394 | D>E | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
|
rs2063805934 TCGA novel |
395 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs775372400 | 396 | V>I | No |
ExAC TOPMed gnomAD |
|
|
COSM3672114 rs34616395 |
398 | R>L | prostate [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM1640345 VAR_025204 rs34616395 |
398 | R>Q | stomach [Cosmic] | No |
cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| rs1247351581 | 398 | R>W | No |
TOPMed gnomAD |
|
| rs757645378 | 400 | E>G | No |
ExAC gnomAD |
|
| rs2063806328 | 400 | E>Q | No | TOPMed | |
| rs202236681 | 403 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs202236681 | 403 | Y>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs756556608 | 407 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs778545309 | 407 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs139316383 | 409 | D>N | No |
ESP TOPMed gnomAD |
|
| rs777268682 | 410 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs746622803 | 412 | P>L | No |
ExAC gnomAD |
|
| rs775701272 | 414 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs775701272 | 414 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1048533928 | 416 | Y>C | No |
TOPMed gnomAD |
|
| rs1398367358 | 416 | Y>D | No | TOPMed | |
| rs1461438187 | 417 | E>D | No | TOPMed | |
| rs2063807315 | 417 | E>K | No | TOPMed | |
| rs1567219941 | 420 | K>N | No | Ensembl | |
| rs2141103933 | 424 | H>Q | No | Ensembl | |
| rs576918025 | 426 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs149114083 | 427 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1012429693 | 427 | A>V | No |
TOPMed gnomAD |
|
| rs147023686 | 428 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs761238167 | 429 | M>I | No |
ExAC gnomAD |
|
| rs1461844771 | 429 | M>T | No | gnomAD | |
| rs906788163 | 429 | M>V | No | Ensembl | |
| rs1596374084 | 430 | R>W | No | Ensembl | |
| COSM4056924 | 437 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1755941198 | 437 | R>G | No | TOPMed | |
| rs372255756 | 437 | R>L | No |
ESP TOPMed gnomAD |
|
| rs372255756 | 437 | R>Q | No |
ESP TOPMed gnomAD |
|
| rs1242489251 | 441 | E>K | No |
TOPMed gnomAD |
|
|
VAR_025205 rs35556162 |
442 | H>R | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs752299945 | 445 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs752299945 | 445 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs777296284 | 447 | E>K | No |
ExAC gnomAD |
|
| rs1567219983 | 447 | E>V | No | Ensembl | |
| rs1395950932 | 448 | L>P | No | gnomAD | |
| rs2063808793 | 449 | H>P | No | Ensembl | |
| TCGA novel | 449 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2063808900 | 450 | L>P | No | Ensembl |
No associated diseases with P41240
8 regional properties for P41240
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 195 - 449 | IPR000719 |
| domain | SH2 domain | 80 - 171 | IPR000980 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 195 - 440 | IPR001245 |
| domain | SH3 domain | 9 - 70 | IPR001452 |
| active_site | Tyrosine-protein kinase, active site | 310 - 322 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 201 - 222 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 195 - 440 | IPR020635 |
| domain | CSK-like, SH2 domain | 78 - 175 | IPR035027 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction |
| proline-rich region binding | Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein. |
| protein kinase A catalytic subunit binding | Binding to one or both of the catalytic subunits of protein kinase A. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| protein tyrosine kinase activity | Catalysis of the reaction |
| protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| cellular response to peptide hormone 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 peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| negative regulation of bone resorption | Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of Golgi to plasma membrane protein transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane. |
| negative regulation of interleukin-6 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production. |
| negative regulation of low-density lipoprotein particle clearance | Any process that decreases the rate, frequency or extent of low-density lipoprotein particle clearance. Low-density lipoprotein particle clearance is the process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. |
| negative regulation of phagocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of Fc receptor mediated stimulatory signaling pathway | Any process that modulates the rate, frequency or extent of the Fc receptor mediated stimulatory signaling pathway.. |
| T cell costimulation | The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
88 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNB0 | FYN | Tyrosine-protein kinase Fyn | Bos taurus (Bovine) | SS |
| Q3ZC95 | BTK | Tyrosine-protein kinase | Bos taurus (Bovine) | EV SS |
| Q0VBZ0 | CSK | Tyrosine-protein kinase CSK | Bos taurus (Bovine) | SS |
| P42683 | LCK | Proto-oncogene tyrosine-protein kinase LCK | Gallus gallus (Chicken) | SS |
| P00523 | SRC | Proto-oncogene tyrosine-protein kinase Src | Gallus gallus (Chicken) | EV |
| Q02977 | YRK | Proto-oncogene tyrosine-protein kinase Yrk | Gallus gallus (Chicken) | SS |
| Q8JH64 | BTK | Tyrosine-protein kinase BTK | Gallus gallus (Chicken) | SS |
| P09324 | YES1 | Tyrosine-protein kinase Yes | Gallus gallus (Chicken) | SS |
| Q05876 | FYN | Tyrosine-protein kinase Fyn | Gallus gallus (Chicken) | SS |
| Q75R65 | JAK2 | Tyrosine-protein kinase JAK2 | Gallus gallus (Chicken) | SS |
| P41239 | CSK | Tyrosine-protein kinase CSK | Gallus gallus (Chicken) | SS |
| Q24592 | hop | Tyrosine-protein kinase hopscotch | Drosophila melanogaster (Fruit fly) | PR |
| Q9V9J3 | Src42A | Tyrosine-protein kinase Src42A | Drosophila melanogaster (Fruit fly) | SS |
| P00528 | Src64B | Tyrosine-protein kinase Src64B | Drosophila melanogaster (Fruit fly) | SS |
| P08630 | Btk | Tyrosine-protein kinase Btk | Drosophila melanogaster (Fruit fly) | SS |
| P23458 | JAK1 | Tyrosine-protein kinase JAK1 | Homo sapiens (Human) | SS |
| O60674 | JAK2 | Tyrosine-protein kinase JAK2 | Homo sapiens (Human) | EV |
| P52333 | JAK3 | Tyrosine-protein kinase JAK3 | Homo sapiens (Human) | SS |
| P29597 | TYK2 | Non-receptor tyrosine-protein kinase TYK2 | Homo sapiens (Human) | EV |
| P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
| P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
| P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
| P51451 | BLK | Tyrosine-protein kinase Blk | Homo sapiens (Human) | SS |
| P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
| Q08881 | ITK | Tyrosine-protein kinase ITK/TSK | Homo sapiens (Human) | EV |
| P43405 | SYK | Tyrosine-protein kinase SYK | Homo sapiens (Human) | EV |
| P43403 | ZAP70 | Tyrosine-protein kinase ZAP-70 | Homo sapiens (Human) | EV |
| Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
| P07948 | LYN | Tyrosine-protein kinase Lyn | Homo sapiens (Human) | SS |
| P06241 | FYN | Tyrosine-protein kinase Fyn | Homo sapiens (Human) | SS |
| P12931 | SRC | Proto-oncogene tyrosine-protein kinase Src | Homo sapiens (Human) | EV |
| P06239 | LCK | Tyrosine-protein kinase Lck | Homo sapiens (Human) | EV |
| P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
| P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
| Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
| P42679 | MATK | Megakaryocyte-associated tyrosine-protein kinase | Homo sapiens (Human) | SS |
| Q14289 | PTK2B | Protein-tyrosine kinase 2-beta | Homo sapiens (Human) | PR |
| Q05397 | PTK2 | Focal adhesion kinase 1 | Homo sapiens (Human) | EV |
| Q13470 | TNK1 | Non-receptor tyrosine-protein kinase TNK1 | Homo sapiens (Human) | PR |
| Q07912 | TNK2 | Activated CDC42 kinase 1 | Homo sapiens (Human) | EV |
| P16591 | FER | Tyrosine-protein kinase Fer | Homo sapiens (Human) | PR |
| Q6J9G0 | STYK1 | Tyrosine-protein kinase STYK1 | Homo sapiens (Human) | PR |
| P42684 | ABL2 | Tyrosine-protein kinase ABL2 | Homo sapiens (Human) | SS |
| P00519 | ABL1 | Tyrosine-protein kinase ABL1 | Homo sapiens (Human) | EV |
| Q9R117 | Tyk2 | Non-receptor tyrosine-protein kinase TYK2 | Mus musculus (Mouse) | SS |
| P08103 | Hck | Tyrosine-protein kinase HCK | Mus musculus (Mouse) | SS |
| P16277 | Blk | Tyrosine-protein kinase Blk | Mus musculus (Mouse) | SS |
| Q62270 | Srms | Tyrosine-protein kinase Srms | Mus musculus (Mouse) | SS |
| Q64434 | Ptk6 | Protein-tyrosine kinase 6 | Mus musculus (Mouse) | SS |
| P05480 | Src | Proto-oncogene tyrosine-protein kinase Src | Mus musculus (Mouse) | EV |
| P14234 | Fgr | Tyrosine-protein kinase Fgr | Mus musculus (Mouse) | SS |
| P35991 | Btk | Tyrosine-protein kinase BTK | Mus musculus (Mouse) | EV |
| P25911 | Lyn | Tyrosine-protein kinase Lyn | Mus musculus (Mouse) | EV |
| Q62137 | Jak3 | Tyrosine-protein kinase JAK3 | Mus musculus (Mouse) | SS |
| Q62120 | Jak2 | Tyrosine-protein kinase JAK2 | Mus musculus (Mouse) | EV |
| P06240 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Mus musculus (Mouse) | SS |
| P24604 | Tec | Tyrosine-protein kinase Tec | Mus musculus (Mouse) | SS |
| Q04736 | Yes1 | Tyrosine-protein kinase Yes | Mus musculus (Mouse) | SS |
| P39688 | Fyn | Tyrosine-protein kinase Fyn | Mus musculus (Mouse) | SS |
| P52332 | Jak1 | Tyrosine-protein kinase JAK1 | Mus musculus (Mouse) | SS |
| Q03526 | Itk | Tyrosine-protein kinase ITK/TSK | Mus musculus (Mouse) | SS |
| P41242 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| Q922K9 | Frk | Tyrosine-protein kinase FRK | Mus musculus (Mouse) | SS |
| P41241 | Csk | Tyrosine-protein kinase CSK | Mus musculus (Mouse) | EV |
| A1Y2K1 | FYN | Tyrosine-protein kinase Fyn | Sus scrofa (Pig) | SS |
| O19064 | JAK2 | Tyrosine-protein kinase JAK2 | Sus scrofa (Pig) | SS |
| Q62662 | Frk | Tyrosine-protein kinase FRK | Rattus norvegicus (Rat) | SS |
| Q62844 | Fyn | Tyrosine-protein kinase Fyn | Rattus norvegicus (Rat) | SS |
| Q07014 | Lyn | Tyrosine-protein kinase Lyn | Rattus norvegicus (Rat) | SS |
| P50545 | Hck | Tyrosine-protein kinase HCK | Rattus norvegicus (Rat) | SS |
| Q9WUD9 | Src | Proto-oncogene tyrosine-protein kinase Src | Rattus norvegicus (Rat) | SS |
| Q01621 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Rattus norvegicus (Rat) | SS |
| Q6P6U0 | Fgr | Tyrosine-protein kinase Fgr | Rattus norvegicus (Rat) | SS |
| Q62689 | Jak2 | Tyrosine-protein kinase JAK2 | Rattus norvegicus (Rat) | SS |
| Q63272 | Jak3 | Tyrosine-protein kinase JAK3 | Rattus norvegicus (Rat) | SS |
| P41243 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Rattus norvegicus (Rat) | SS |
| F1LM93 | Yes1 | Tyrosine-protein kinase Yes | Rattus norvegicus (Rat) | SS |
| P32577 | Csk | Tyrosine-protein kinase CSK | Rattus norvegicus (Rat) | SS |
| O45539 | src-2 | Tyrosine protein-kinase src-2 | Caenorhabditis elegans | SS |
| G5EE56 | src-1 | Tyrosine protein-kinase src-1 | Caenorhabditis elegans | SS |
| Q8I7I5 | rol-3 | Protein roller-3 | Caenorhabditis elegans | PR |
| O16262 | nipi-4 | Protein nipi-4 | Caenorhabditis elegans | PR |
| G5ECJ6 | csk-1 | Tyrosine-protein kinase csk-1 | Caenorhabditis elegans | SS |
| A1A5H8 | yes1 | Tyrosine-protein kinase yes | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| F1RDG9 | fynb | Tyrosine-protein kinase fynb | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O12990 | jak1 | Tyrosine-protein kinase JAK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1JPZ3 | src | Proto-oncogene tyrosine-protein kinase Src | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6EWH2 | fyna | Tyrosine-protein kinase fyna | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAIQAAWPS | GTECIAKYNF | HGTAEQDLPF | CKGDVLTIVA | VTKDPNWYKA | KNKVGREGII |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PANYVQKREG | VKAGTKLSLM | PWFHGKITRE | QAERLLYPPE | TGLFLVREST | NYPGDYTLCV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SCDGKVEHYR | IMYHASKLSI | DEEVYFENLM | QLVEHYTSDA | DGLCTRLIKP | KVMEGTVAAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DEFYRSGWAL | NMKELKLLQT | IGKGEFGDVM | LGDYRGNKVA | VKCIKNDATA | QAFLAEASVM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TQLRHSNLVQ | LLGVIVEEKG | GLYIVTEYMA | KGSLVDYLRS | RGRSVLGGDC | LLKFSLDVCE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AMEYLEGNNF | VHRDLAARNV | LVSEDNVAKV | SDFGLTKEAS | STQDTGKLPV | KWTAPEALRE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KKFSTKSDVW | SFGILLWEIY | SFGRVPYPRI | PLKDVVPRVE | KGYKMDAPDG | CPPAVYEVMK |
| 430 | 440 | ||||
| NCWHLDAAMR | PSFLQLREQL | EHIKTHELHL |