Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

4 structures for P26641

Entry ID Method Resolution Chain Position Source
1PBU NMR - A 276-437 PDB
5DQS X-ray 210 A A 2-218 PDB
5JPO X-ray 200 A A/B/C/D 1-218 PDB
AF-P26641-F1 Predicted AlphaFoldDB

273 variants for P26641

Variant ID(s) Position Change Description Diseaes Association Provenance
CA6047353
rs768353853
2 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA6047352
rs768353853
2 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA380974864
rs1263820894
3 A>V No ClinGen
TOPMed
gnomAD
rs1161150304
CA380974840
5 T>N No ClinGen
gnomAD
CA380974821
rs1413092890
8 T>K No ClinGen
gnomAD
rs755301699
CA6047321
9 Y>* No ClinGen
ExAC
gnomAD
TCGA novel 15 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6047319
rs780270066
20 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1590712240
CA380974725
22 A>T No ClinGen
Ensembl
rs376492856
CA6047317
23 Q>E No ClinGen
ESP
ExAC
gnomAD
CA380974696
COSM3809824
rs1219940474
26 G>E breast [Cosmic] No ClinGen
cosmic curated
gnomAD
CA6047316
rs767489822
26 G>W No ClinGen
ExAC
rs1340939647
CA380974688
27 A>V No ClinGen
TOPMed
CA6047314
rs200194191
28 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA223045476
rs11549617
32 L>F No ClinGen
Ensembl
rs368954257
CA6047312
COSM689203
33 S>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6047311
rs11545772
34 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6047310
rs11545772
34 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA380974651
rs1290577244
34 A>V No ClinGen
gnomAD
rs1258782166
CA380974646
35 P>S No ClinGen
Ensembl
rs1456269075
CA380974555
43 T>S No ClinGen
TOPMed
gnomAD
rs1165820378
CA380974530
45 R>H No ClinGen
gnomAD
TCGA novel 46 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6047308
rs376656441
47 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6047307
rs770416963
48 E>G No ClinGen
ExAC
gnomAD
TCGA novel 48 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1037404551
CA223045460
48 E>Q No ClinGen
gnomAD
rs11545769
CA223045449
50 L>P No ClinGen
Ensembl
rs11549641
CA223045445
54 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs748691710
CA6047306
56 G>C No ClinGen
ExAC
gnomAD
CA380974401
rs748691710
56 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA380974396
rs1429500740
56 G>V No ClinGen
gnomAD
CA380974385
rs1170867307
57 K>R No ClinGen
TOPMed
CA380974308
rs1235761626
61 F>V No ClinGen
gnomAD
CA223045227
rs11549636
62 E>* No ClinGen
gnomAD
rs867944273
CA223045225
62 E>D No ClinGen
Ensembl
rs11549636
CA380974301
62 E>K No ClinGen
gnomAD
rs764076137
CA6047296
63 G>D No ClinGen
ExAC
gnomAD
rs1252676888
CA380974287
64 D>G No ClinGen
gnomAD
rs1230841842
CA380974279
65 D>G No ClinGen
gnomAD
rs752473849
CA6047293
73 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs761237813
CA6047291
74 A>T No ClinGen
ExAC
rs369982241
CA6047290
75 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380974112
rs765903056
78 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs765903056
CA6047289
78 Y>N No ClinGen
ExAC
TOPMed
gnomAD
rs201175165
CA223045103
80 S>I No ClinGen
1000Genomes
rs765132516
CA6047275
81 N>S No ClinGen
ExAC
gnomAD
CA380974014
rs1283505997
82 E>K No ClinGen
gnomAD
CA380973968
rs1205587441
85 R>Q No ClinGen
gnomAD
rs936366211
CA223045100
85 R>W No ClinGen
Ensembl
CA380973935
rs1352945446
88 T>I No ClinGen
gnomAD
rs1590711652
CA380973942
88 T>P No ClinGen
Ensembl
CA380973929
rs1263830645
89 P>S No ClinGen
gnomAD
CA380973896
rs1356394154
91 A>V No ClinGen
gnomAD
CA380973888
COSM467139
rs1565262742
92 A>V kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1590711643
CA380973847
95 V>G No ClinGen
Ensembl
CA380973853
rs1398571275
95 V>M No ClinGen
gnomAD
rs1590711638
CA380973836
96 V>G No ClinGen
Ensembl
CA380973810
rs1590711635
99 V>G No ClinGen
Ensembl
CA380973806
rs1305470901
100 S>N No ClinGen
TOPMed
gnomAD
CA223045095
rs17851072
102 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs765954334
CA6047272
104 S>C No ClinGen
ExAC
gnomAD
rs1402884316
CA380973768
105 D>N No ClinGen
gnomAD
COSM395457
rs1162240425
CA380973712
109 P>A lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA6047268
rs763563679
110 A>P No ClinGen
ExAC
gnomAD
CA223045086
rs1010573000
117 T>I No ClinGen
TOPMed
gnomAD
rs1188994204
CA380973366
125 K>E No ClinGen
TOPMed
CA380973358
rs1193633559
125 K>R No ClinGen
gnomAD
rs1343255737
CA380972616
127 A>G No ClinGen
gnomAD
rs199942278
CA6047253
129 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA223044856
rs201995941
130 N>S No ClinGen
1000Genomes
CA6047250
rs750054941
140 G>E No ClinGen
ExAC
gnomAD
CA380972377
rs1565262588
141 L>M No ClinGen
Ensembl
CA6047249
rs767052909
144 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1167641484
CA380972226
148 T>M No ClinGen
TOPMed
rs759950976
CA6047245
154 G>D No ClinGen
ExAC
gnomAD
CA6047241
rs773540936
162 I>V No ClinGen
ExAC
gnomAD
CA380971929
rs1212031704
166 C>R No ClinGen
gnomAD
rs1169443576
CA380971909
167 T>I No ClinGen
TOPMed
CA6047236
rs749209857
170 W>C No ClinGen
ExAC
gnomAD
CA223044782
rs926697998
173 K>T No ClinGen
Ensembl
TCGA novel 176 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1287054647
CA380971353
177 E>K No ClinGen
gnomAD
CA380971332
rs1345701548
180 F>L No ClinGen
gnomAD
CA380971323
rs1161441685
181 R>C No ClinGen
gnomAD
rs377344394
CA6047222
183 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377344394
CA380971309
183 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6047223
rs773579698
183 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs773579698
CA380971310
183 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 183 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1476397110
CA380971296
185 P>L No ClinGen
gnomAD
CA6047219
rs768757371
187 T>A No ClinGen
ExAC
gnomAD
rs1486510908
CA380971269
189 R>H No ClinGen
gnomAD
rs1486510908
CA380971267
189 R>L No ClinGen
gnomAD
CA380971207
rs1272174776
197 Q>H No ClinGen
gnomAD
TCGA novel 198 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780903665
CA6047213
201 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745605867
CA223042129
COSM3383653
201 R>W pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA380971174
rs1213750071
202 A>T No ClinGen
gnomAD
rs754430580
CA6047208
206 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 207 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326828687
CA380971084
209 L>V No ClinGen
gnomAD
CA599550696
rs1565261606
210 C>* Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs77818737
CA223042096
210 C>S No ClinGen
Ensembl
rs1169662800
CA380971053
211 E>A No ClinGen
TOPMed
CA6047207
rs766947119
213 M>I No ClinGen
ExAC
rs1371538513
CA380971012
214 A>S No ClinGen
gnomAD
rs1170247235
CA380971006
214 A>V No ClinGen
gnomAD
rs756548804
CA6047206
215 Q>R No ClinGen
ExAC
gnomAD
rs750880029
CA380970978
217 D>N No ClinGen
ExAC
gnomAD
rs750880029
CA6047205
217 D>Y No ClinGen
ExAC
gnomAD
CA380970367
rs1376630288
218 A>V No ClinGen
gnomAD
rs765288776
CA6047177
220 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 220 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA223041645
rs865829861
222 A>V No ClinGen
Ensembl
rs1467149918
CA380970277
223 E>G No ClinGen
gnomAD
CA223041622
rs11549631
224 T>N No ClinGen
Ensembl
CA380970229
rs371597439
225 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs11545771
CA223041621
225 Q>K No ClinGen
Ensembl
TCGA novel 228 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1270713648
CA380970156
229 D>V No ClinGen
TOPMed
CA6047175
rs368054471
230 T>I No ClinGen
ESP
ExAC
gnomAD
CA380970129
rs1198987409
231 P>L No ClinGen
TOPMed
COSM1250957
rs1485198635
CA380970113
232 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs772756652
CA6047172
232 R>W No ClinGen
ExAC
gnomAD
CA380970071
rs1565261407
234 E>G No ClinGen
Ensembl
CA380970078
rs1239748235
234 E>Q No ClinGen
TOPMed
rs747786772
CA223041587
236 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs747786772
CA6047170
236 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1242363325
CA380970020
238 R>Q No ClinGen
gnomAD
CA6047169
rs778611401
238 R>W No ClinGen
ExAC
gnomAD
TCGA novel 240 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380969971
rs1260278609
242 Q>P No ClinGen
gnomAD
rs768249627
CA6047168
244 P>L No ClinGen
ExAC
gnomAD
TCGA novel 245 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371308314
CA380969891
248 R>G No ClinGen
ESP
ExAC
gnomAD
CA380969886
rs781687410
248 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6047166
rs781687410
248 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA380969888
rs781687410
248 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs371308314
CA6047167
248 R>W No ClinGen
ESP
ExAC
gnomAD
TCGA novel 251 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1565261378
CA380969842
252 K>Q No ClinGen
Ensembl
rs757574790
CA6047165
254 A>V No ClinGen
ExAC
gnomAD
TCGA novel 255 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6047162
rs758677352
257 P>L No ClinGen
ExAC
gnomAD
rs759624665
CA6047159
264 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1453812305
CA380969656
265 E>A No ClinGen
gnomAD
CA223041530
rs1047756579
266 C>R No ClinGen
TOPMed
gnomAD
CA380969635
rs1162284205
266 C>W No ClinGen
gnomAD
CA380969633
rs1474765701
267 E>Q No ClinGen
gnomAD
CA380969610
rs1340552971
268 Q>H No ClinGen
TOPMed
CA380969615
rs1257881782
268 Q>P No ClinGen
TOPMed
gnomAD
rs372879019
CA6047158
269 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760522344
CA6047156
270 L>P No ClinGen
ExAC
gnomAD
rs1219132279
CA380969569
272 A>V No ClinGen
TOPMed
rs773114543
CA6047155
278 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1466274086
CA380969500
278 D>N No ClinGen
gnomAD
rs1335726607
CA380969470
280 F>Y No ClinGen
gnomAD
CA380969458
rs923344557
281 A>S No ClinGen
TOPMed
gnomAD
CA223041492
rs923344557
281 A>T No ClinGen
TOPMed
gnomAD
CA6047153
rs761595268
281 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA380969439
rs1453841335
282 H>Q No ClinGen
gnomAD
rs774106674
CA6047152
282 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6047151
rs768303087
283 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA380969423
rs1408495907
284 P>L No ClinGen
gnomAD
rs748772853
CA6047150
285 K>R No ClinGen
ExAC
gnomAD
CA223041482
rs933785027
286 S>G No ClinGen
Ensembl
CA380969402
rs1460657967
286 S>N No ClinGen
gnomAD
rs1193126567
CA380967316
287 T>N No ClinGen
gnomAD
rs1437614734
CA380967288
291 D>G No ClinGen
gnomAD
rs1179848229
CA380967292
291 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA380967284
rs1274229889
292 E>K No ClinGen
gnomAD
rs1346392960
CA380967258
295 R>C No ClinGen
gnomAD
rs774160028
CA6047132
295 R>H No ClinGen
ExAC
gnomAD
CA380967251
rs1183911827
296 K>R No ClinGen
TOPMed
gnomAD
rs766058630
CA223033844
299 N>S No ClinGen
TOPMed
gnomAD
rs768287095
CA6047131
301 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA380967216
rs1439659444
301 D>N No ClinGen
TOPMed
gnomAD
CA380967207
rs1431363420
302 T>S No ClinGen
gnomAD
rs769166593
CA6047128
303 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6047127
rs574398844
303 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA380967202
rs574398844
303 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs769166593
CA6047129
303 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 304 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380967195
rs1395191536
304 S>F No ClinGen
TOPMed
rs1175550717
CA380967186
306 A>S No ClinGen
gnomAD
CA380967172
rs1469870243
308 P>L No ClinGen
gnomAD
rs575608451
CA6047125
313 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1465667927
CA380967103
317 D>G No ClinGen
TOPMed
CA223033803
rs779116430
318 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs779116430
CA6047123
318 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 319 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6047122
rs555740719
323 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
rs749445275
CA6047121
325 E>G No ClinGen
ExAC
gnomAD
rs1437879128
CA380967037
325 E>K No ClinGen
gnomAD
TCGA novel 325 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 325 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6047120
rs780220758
327 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs756104285
CA6047119
327 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs750407493
CA6047118
329 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA380966987
rs1353265564
329 P>S No ClinGen
gnomAD
TCGA novel 331 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6047116
rs757122560
331 E>D No ClinGen
ExAC
CA6047117
rs767502960
331 E>Q No ClinGen
ExAC
gnomAD
CA380966854
rs1247211043
337 M>V No ClinGen
TOPMed
CA6047114
rs763784154
340 N>S No ClinGen
ExAC
gnomAD
rs1425878046
CA380966620
346 F>L No ClinGen
gnomAD
CA380966602
rs1418015966
348 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs763992037
CA380966599
348 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs763992037
CA6047096
348 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 353 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1248178233
CA380966519
355 N>D No ClinGen
gnomAD
rs752420312
CA6047094
356 A>G No ClinGen
ExAC
gnomAD
rs752420312
CA380966496
356 A>V No ClinGen
ExAC
gnomAD
CA380966470
rs1222059466
358 A>S No ClinGen
gnomAD
rs776194268
CA6047091
362 L>H No ClinGen
ExAC
gnomAD
TCGA novel 363 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1590705988
CA380966380
365 T>P No ClinGen
Ensembl
CA6047088
rs537780043
367 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA6047089
rs537780043
367 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs769084151
CA6047087
368 S>C No ClinGen
ExAC
rs763167508
CA6047086
369 S>G No ClinGen
ExAC
gnomAD
CA380966276
rs1294285441
370 S>F No ClinGen
gnomAD
rs775783117
CA6047085
370 S>P No ClinGen
ExAC
gnomAD
rs770207953
CA6047084
373 G>A No ClinGen
ExAC
gnomAD
TCGA novel 375 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs531635027
CA6047083
378 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781472642
CA6047082
382 L>P No ClinGen
ExAC
gnomAD
CA380966004
rs1451988963
384 F>L No ClinGen
gnomAD
rs375447576 385 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6047080
rs377564786
385 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380965995
rs377564786
385 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1590705888
CA380965831
388 P>L No ClinGen
Ensembl
rs933666964
CA223032901
388 P>S No ClinGen
Ensembl
CA6047058
rs778716142
389 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs778716142
CA380965827
389 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs754724020
CA6047057
391 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA380965719
rs753508839
392 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6047056
rs753508839
392 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs755624035
CA6047054
393 D>G No ClinGen
ExAC
rs370127965
CA223032862
394 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
rs1590705877
CA380965612
396 S>A No ClinGen
Ensembl
CA6047052
rs767039896
397 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 399 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373136245
CA6047048
403 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1242764229
CA380965421
404 P>S No ClinGen
TOPMed
rs1467091858
CA380965353
406 S>G No ClinGen
gnomAD
CA380965290
rs1565259235
407 E>D No ClinGen
Ensembl
CA6047046
rs575349463
407 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1234261482
CA380965291
407 E>V No ClinGen
gnomAD
rs760949638
CA6047045
409 T>A No ClinGen
ExAC
gnomAD
rs761244656
CA6047043
411 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs568924560
CA223032794
COSM1231435
414 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 416 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6047041
rs774220906
417 F>S No ClinGen
ExAC
gnomAD
rs11545775
CA223032778
419 W>* No ClinGen
Ensembl
rs1037376575
CA223032771
420 E>K No ClinGen
Ensembl
rs1244476654
CA380964899
422 A>D No ClinGen
gnomAD
CA380964901
rs1291875005
422 A>S No ClinGen
gnomAD
rs749012768
CA6047039
424 Q>R No ClinGen
ExAC
gnomAD
CA6047038
rs779818188
425 H>Y No ClinGen
ExAC
gnomAD
CA223032754
rs555681172
426 V>M No ClinGen
1000Genomes
TOPMed
rs3211579
CA223032730
427 G>C No ClinGen
Ensembl
rs3211579
CA223032750
427 G>S No ClinGen
Ensembl
rs369673180
CA223032688
428 K>R No ClinGen
ESP
TOPMed
CA6047034
rs190509559
429 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs186189172
CA6047033
431 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs990642606
CA223032635
432 Q>H No ClinGen
Ensembl
rs765782856
CA6047032
432 Q>R No ClinGen
ExAC
gnomAD
rs3211580
CA223032614
435 I>M No ClinGen
Ensembl
rs958815490
CA223032630
435 I>N No ClinGen
Ensembl
rs3211581
CA223032606
436 F>V No ClinGen
Ensembl
rs3211582
CA223032603
438 K>R No ClinGen
Ensembl

No associated diseases with P26641

4 regional properties for P26641

Type Name Position InterPro Accession
domain Elongation factor 1B gamma, C-terminal 275 - 437 IPR001662
domain Glutathione S-transferase, N-terminal 2 - 87 IPR004045
domain Glutathione S-transferase, C-terminal 108 - 198 IPR004046
domain Glutathione S-transferase, C-terminal-like 88 - 216 IPR010987

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 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.
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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.

2 GO annotations of molecular function

Name Definition
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
translation elongation factor activity Functions in chain elongation during polypeptide synthesis at the ribosome.

2 GO annotations of biological process

Name Definition
response to virus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.
translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis.

16 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2NL00 GSTT1 Glutathione S-transferase theta-1 Bos taurus (Bovine) PR
Q3SZV3 EEF1G Elongation factor 1-gamma Bos taurus (Bovine) PR
A2Q127 EEF1G Elongation factor 1-gamma Equus caballus (Horse) PR
P0CG30 GSTT2B Glutathione S-transferase theta-2B Homo sapiens (Human) PR
P26640 VARS1 Valine--tRNA ligase Homo sapiens (Human) PR
Q9Z1Q9 Vars1 Valine--tRNA ligase Mus musculus (Mouse) PR
Q9D8N0 Eef1g Elongation factor 1-gamma Mus musculus (Mouse) PR
Q29387 EEF1G Elongation factor 1-gamma Sus scrofa (Pig) PR
Q04462 Vars1 Valine--tRNA ligase Rattus norvegicus (Rat) PR
P30713 Gstt2 Glutathione S-transferase theta-2 Rattus norvegicus (Rat) PR
Q68FR6 Eef1g Elongation factor 1-gamma Rattus norvegicus (Rat) PR
Q5Z627 Os06g0571400 Elongation factor 1-gamma 3 Oryza sativa subsp japonica (Rice) PR
Q9ZRI7 Os02g0220600 Elongation factor 1-gamma 1 Oryza sativa subsp japonica (Rice) PR
Q6YW46 Os02g0220500 Elongation factor 1-gamma 2 Oryza sativa subsp japonica (Rice) PR
P54412 eef-1G Probable elongation factor 1-gamma Caenorhabditis elegans PR
Q6PE25 eef1g Elongation factor 1-gamma Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAAGTLYTYP ENWRAFKALI AAQYSGAQVR VLSAPPHFHF GQTNRTPEFL RKFPAGKVPA
70 80 90 100 110 120
FEGDDGFCVF ESNAIAYYVS NEELRGSTPE AAAQVVQWVS FADSDIVPPA STWVFPTLGI
130 140 150 160 170 180
MHHNKQATEN AKEEVRRILG LLDAYLKTRT FLVGERVTLA DITVVCTLLW LYKQVLEPSF
190 200 210 220 230 240
RQAFPNTNRW FLTCINQPQF RAVLGEVKLC EKMAQFDAKK FAETQPKKDT PRKEKGSREE
250 260 270 280 290 300
KQKPQAERKE EKKAAAPAPE EEMDECEQAL AAEPKAKDPF AHLPKSTFVL DEFKRKYSNE
310 320 330 340 350 360
DTLSVALPYF WEHFDKDGWS LWYSEYRFPE ELTQTFMSCN LITGMFQRLD KLRKNAFASV
370 380 390 400 410 420
ILFGTNNSSS ISGVWVFRGQ ELAFPLSPDW QVDYESYTWR KLDPGSEETQ TLVREYFSWE
430
GAFQHVGKAF NQGKIFK