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

53 structures for P27338

Entry ID Method Resolution Chain Position Source
1GOS X-ray 300 A A/B 2-520 PDB
1OJ9 X-ray 230 A A/B 2-520 PDB
1OJA X-ray 170 A A/B 2-520 PDB
1OJC X-ray 240 A A/B 2-520 PDB
1OJD X-ray 310 A A/B/C/D/E/F/G/H/I/L 2-520 PDB
1S2Q X-ray 207 A A/B 1-520 PDB
1S2Y X-ray 212 A A/B 1-520 PDB
1S3B X-ray 165 A A/B 1-520 PDB
1S3E X-ray 160 A A/B 1-520 PDB
2BK3 X-ray 180 A A/B 2-520 PDB
2BK4 X-ray 190 A A/B 2-520 PDB
2BK5 X-ray 183 A A/B 1-520 PDB
2BYB X-ray 220 A A/B 2-520 PDB
2C64 X-ray 220 A A/B 2-520 PDB
2C65 X-ray 170 A A/B 2-520 PDB
2C66 X-ray 250 A A/B 2-520 PDB
2C67 X-ray 170 A A/B 2-520 PDB
2C70 X-ray 206 A A/B 2-520 PDB
2C72 X-ray 200 A A/B 2-520 PDB
2C73 X-ray 220 A A/B 2-520 PDB
2C75 X-ray 170 A A/B 2-520 PDB
2C76 X-ray 170 A A/B 2-520 PDB
2V5Z X-ray 160 A A/B 2-520 PDB
2V60 X-ray 200 A A/B 2-520 PDB
2V61 X-ray 170 A A/B 2-520 PDB
2VRL X-ray 240 A A/B 1-520 PDB
2VRM X-ray 230 A A/B 1-520 PDB
2VZ2 X-ray 230 A A/B 1-520 PDB
2XCG X-ray 190 A A/B 1-520 PDB
2XFN X-ray 160 A A/B 1-520 PDB
2XFO X-ray 210 A A/B 1-520 PDB
2XFP X-ray 166 A A/B 1-520 PDB
2XFQ X-ray 220 A A/B 1-520 PDB
2XFU X-ray 220 A A/B 2-520 PDB
3PO7 X-ray 180 A A/B 1-520 PDB
3ZYX X-ray 220 A A/B 2-520 PDB
4A79 X-ray 189 A A/B 1-520 PDB
4A7A X-ray 170 A A/B 1-520 PDB
4CRT X-ray 180 A A/B 1-520 PDB
5MRL X-ray 242 A A/B 1-520 PDB
6FVZ X-ray 180 A A/B 1-520 PDB
6FW0 X-ray 160 A A/B 1-520 PDB
6FWC X-ray 170 A A/B 1-520 PDB
6RKB X-ray 230 A A/B 1-520 PDB
6RKP X-ray 170 A A/B 1-520 PDB
6RLE X-ray 230 A A/B 1-520 PDB
6YT2 X-ray 180 A A/B 2-520 PDB
7B0V X-ray 230 A A/B 1-520 PDB
7B0Z X-ray 210 A A/B 1-520 PDB
7P4F X-ray 230 A A/B 1-520 PDB
7P4H X-ray 210 A A/B 1-520 PDB
7ZW3 X-ray 200 A AAA/BBB 1-520 PDB
AF-P27338-F1 Predicted AlphaFoldDB

245 variants for P27338

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391387
rs778172877
2 S>N No ClinGen
ExAC
gnomAD
rs1217654270
CA413008862
6 D>E No ClinGen
gnomAD
CA329478212
rs867906703
13 G>D No ClinGen
Ensembl
CA413010921
rs1332503515
17 M>T No ClinGen
gnomAD
rs762962154
CA10391371
18 A>V No ClinGen
ExAC
gnomAD
CA10391370
rs773282941
19 A>G No ClinGen
ExAC
gnomAD
CA10391368
rs770202748
22 L>P No ClinGen
ExAC
TCGA novel 22 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1028364289
CA329475156
29 N>D No ClinGen
TOPMed
TCGA novel 30 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391365
rs189979184
31 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10391364
rs747346258
32 V>I No ClinGen
ExAC
CA10391362
rs756887426
36 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA413010685
rs778570953
36 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413010668
rs1171549806
37 D>E No ClinGen
TOPMed
gnomAD
CA10391361
rs778871584
38 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs17856663
CA10391360
38 R>H No ClinGen
ExAC
gnomAD
TCGA novel 40 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391341
rs747397495
48 N>D No ClinGen
ExAC
gnomAD
rs775868592
CA10391340
49 Q>E No ClinGen
ExAC
gnomAD
CA10391338
rs201981141
59 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370820554
CA329474769
60 Y>C No ClinGen
ESP
TOPMed
CA413010068
rs1298437740
63 P>S No ClinGen
TOPMed
CA10391337
rs777268698
67 R>C Variant assessed as Somatic; 6.27e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM240587
rs755689863
CA10391336
67 R>H prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA413010042
COSM488379
rs777268698
67 R>S kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA329474768
rs148575315
72 A>T No ClinGen
ESP
TOPMed
CA413009953
rs1280271793
80 Y>C No ClinGen
gnomAD
CA10391335
rs781299154
84 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs776880004
CA329474767
87 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA413009905
rs776880004
87 R>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA10391333
rs192154106
87 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 94 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413008619
rs1423670702
94 G>D No ClinGen
gnomAD
CA413008588
rs1215586148
97 Y>H No ClinGen
TOPMed
rs1426305009
CA413008573
98 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10391304
rs767870404
100 R>S No ClinGen
ExAC
gnomAD
rs1601986947
CA413008516
103 F>S No ClinGen
Ensembl
CA413008505
rs1489790682
104 P>S No ClinGen
gnomAD
CA413008488
rs1393975465
106 V>A No ClinGen
TOPMed
rs769571980
CA10391301
107 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA10391302
rs774521579
107 W>R No ClinGen
ExAC
gnomAD
rs149395667
CA10391300
109 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413008465
rs1307131428
110 I>V No ClinGen
gnomAD
rs952603149
CA329471876
111 T>A No ClinGen
Ensembl
CA413008456
rs1294657930
111 T>N No ClinGen
gnomAD
rs1219565046
CA413008450
112 Y>C No ClinGen
gnomAD
rs776406971
CA10391299
115 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA413008418
rs1440009738
116 N>K No ClinGen
gnomAD
CA329471874
rs994140054
118 F>Y No ClinGen
Ensembl
CA10391298
rs768327519
120 R>K No ClinGen
ExAC
gnomAD
TCGA novel 123 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780074639
CA10391296
124 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs780074639
CA10391297
124 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs372591640
CA10391295
127 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372591640
COSM3390642
CA329471873
127 R>Q pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs17852046
CA413008208
130 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs17852046
CA329471799
130 P>Q No ClinGen
TOPMed
rs766904222
CA10391283
131 S>R No ClinGen
ExAC
gnomAD
rs763385013
CA10391282
133 A>T No ClinGen
ExAC
gnomAD
rs1440909955
CA413008102
138 P>S No ClinGen
gnomAD
CA329471798
rs944307703
139 L>F No ClinGen
Ensembl
CA329471797
rs890050856
140 A>T No ClinGen
Ensembl
CA413008068
rs1378086580
140 A>V No ClinGen
TOPMed
rs147281288
CA10391280
142 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1179798721
CA413007903
148 M>V No ClinGen
gnomAD
rs1418610469
CA413007855
150 E>K No ClinGen
gnomAD
CA10391279
rs774808110
154 K>N No ClinGen
ExAC
gnomAD
CA10391277
rs201889071
155 L>F No ClinGen
1000Genomes
ExAC
CA10391260
rs766994984
159 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10391276
rs745859820
159 E>K No ClinGen
ExAC
gnomAD
rs371973652
CA329471407
160 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs143909840
CA10391258
161 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1269258923
CA413007198
163 Q>K No ClinGen
TOPMed
CA10391256
rs138342360
166 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413007172
rs1316591298
167 L>V No ClinGen
gnomAD
CA413007128
rs1159861627
173 V>A No ClinGen
TOPMed
TCGA novel 174 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1459914959
CA413007123
174 T>N No ClinGen
gnomAD
TCGA novel 176 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748373348
CA10391253
182 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 186 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413007025
rs1555959206
188 Y>F No ClinGen
Ensembl
rs1428823353
CA413007007
191 Q>E No ClinGen
TOPMed
CA329471404
rs988819611
196 T>A No ClinGen
TOPMed
gnomAD
rs781450685
CA10391252
196 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA329471403
rs12845783
197 R>S No ClinGen
Ensembl
TCGA novel 197 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413006947
rs12850496
200 S>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10391250
rs12850496
200 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768655609
CA10391251
200 S>P No ClinGen
ExAC
gnomAD
CA329471402
rs12845773
201 T>P No ClinGen
Ensembl
CA10391247
rs375609221
203 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10391227
rs754192677
209 K>T No ClinGen
ExAC
gnomAD
CA329471300
rs148264689
211 V>A No ClinGen
ESP
TOPMed
gnomAD
rs780719254
CA10391226
212 G>D No ClinGen
ExAC
gnomAD
TCGA novel 212 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391223
rs765931652
217 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA10391222
rs746209846
218 S>T No ClinGen
1000Genomes
ExAC
gnomAD
rs750363747
CA10391221
219 E>K No ClinGen
ExAC
gnomAD
CA329471298
rs980435225
220 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA413006455
rs1470898078
220 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10391219
rs761533542
221 I>M No ClinGen
ExAC
gnomAD
TCGA novel 221 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA329471296
rs866352942
226 G>* No ClinGen
Ensembl
TCGA novel 226 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776431835
CA10391218
228 R>* No ClinGen
ExAC
rs143144504
CA10391217
228 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 236 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347856793
CA413006294
238 I>V No ClinGen
gnomAD
rs1225926474
CA413006250
241 T>I No ClinGen
gnomAD
CA329471295
rs989269368
242 R>K No ClinGen
gnomAD
CA10391214
rs772327693
245 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA413006208
rs1278965110
245 V>F No ClinGen
gnomAD
CA10391212
rs781470264
249 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757880326
CA329471293
254 M>K No ClinGen
TOPMed
gnomAD
rs757880326
CA329471292
254 M>T No ClinGen
TOPMed
gnomAD
rs1374584798
CA413006105
254 M>V No ClinGen
gnomAD
rs749617681
CA10391210
255 Y>H No ClinGen
ExAC
gnomAD
rs778267238
CA10391209
256 E>K No ClinGen
ExAC
gnomAD
rs994767552
CA329471103
259 Y>C No ClinGen
TOPMed
gnomAD
TCGA novel 259 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413005877
rs1432887350
264 I>V No ClinGen
gnomAD
CA329471101
rs371337804
267 T>I No ClinGen
ESP
gnomAD
rs774421335
CA10391195
267 T>S No ClinGen
ExAC
gnomAD
TCGA novel 271 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391194
rs770909931
271 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1242712359
CA413005794
272 I>F No ClinGen
TOPMed
rs149093619
CA329471100
272 I>T No ClinGen
ESP
TOPMed
rs1162364751
CA413005739
276 P>S No ClinGen
gnomAD
CA10391193
rs749864192
277 P>A No ClinGen
ExAC
gnomAD
rs376954945
CA10391190
281 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413005703
rs1485204536
281 M>R No ClinGen
TOPMed
gnomAD
rs1485204536
CA413005705
281 M>T No ClinGen
TOPMed
gnomAD
TCGA novel 282 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391188
rs757984992
287 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs954304565
CA329471099
288 R>C No ClinGen
TOPMed
gnomAD
rs1232908450
CA413005654
288 R>H No ClinGen
gnomAD
rs1027907938
CA329471098
289 V>M No ClinGen
Ensembl
rs1308300908
CA413005645
290 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10391187
rs745377652
290 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA413005636
rs778555521
291 L>F No ClinGen
ExAC
gnomAD
CA413005629
rs1359832338
292 G>A No ClinGen
gnomAD
TCGA novel 292 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs995154094
CA329471097
298 I>M No ClinGen
Ensembl
CA329471096
rs1014904448
299 V>A No ClinGen
TOPMed
gnomAD
rs1323303188
CA413005557
303 E>Q No ClinGen
gnomAD
CA329471095
rs55815323
304 P>L No ClinGen
Ensembl
rs1457141723
CA413005549
304 P>S No ClinGen
gnomAD
CA10391183
rs373923364
310 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373923364
CA10391184
310 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 311 Y>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391167
rs745596328
314 T>I No ClinGen
ExAC
gnomAD
rs778411983
CA10391166
315 M>T No ClinGen
ExAC
gnomAD
CA413005446
rs1174652648
316 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs376366701
CA329470104
317 I>T No ClinGen
Ensembl
CA10391165
rs756309138
320 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA413005412
rs1393788640
321 E>K No ClinGen
gnomAD
rs1486086634
CA413005405
322 A>T No ClinGen
TOPMed
TCGA novel 322 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1213467496
CA413005394
323 P>L No ClinGen
TOPMed
CA413005341
rs1555956523
331 T>N No ClinGen
Ensembl
rs1292664919
CA413005333
332 K>I No ClinGen
Ensembl
rs1252701138
CA413005328
333 P>L No ClinGen
gnomAD
CA329470102
rs1036083502
333 P>S No ClinGen
Ensembl
CA413005317
rs1485643748
335 G>S No ClinGen
TOPMed
rs1187667482
CA413005310
336 N>D No ClinGen
TOPMed
rs1480425646
CA413005308
336 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs756059483
CA10391162
338 A>P No ClinGen
ExAC
gnomAD
rs781189374
CA10391160
340 I>V No ClinGen
ExAC
gnomAD
CA10391159
rs754706218
341 M>T No ClinGen
ExAC
gnomAD
CA10391142
rs748144817
344 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10391141
rs781240387
348 K>R No ClinGen
ExAC
gnomAD
CA10391138
rs74980273
354 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750641196
CA10391136
354 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10391137
rs74980273
354 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413013465
rs1167387008
357 K>E No ClinGen
gnomAD
rs761859790
CA10391134
358 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs753432586
CA329469891
366 E>D No ClinGen
TOPMed
gnomAD
CA329469890
rs866950256
370 K>N No ClinGen
Ensembl
CA10391107
rs753231998
371 V>L No ClinGen
ExAC
gnomAD
rs767818753
CA413013347
372 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1305784743
CA413013313
377 A>G No ClinGen
gnomAD
CA413013304
rs1330558368
379 E>Q No ClinGen
gnomAD
CA10391090
rs756193754
381 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1199459536
CA413013235
386 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1430752211
CA413013219
388 W>C No ClinGen
TOPMed
TCGA novel 391 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1280145389
CA413013187
392 Q>H No ClinGen
gnomAD
CA413013182
rs1444723292
393 Y>C No ClinGen
gnomAD
rs1334179941
CA413013177
394 S>P No ClinGen
gnomAD
rs771956465
CA10391089
399 T>A No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 399 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 402 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768025315
CA10391088
402 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA413013110
rs1171627578
404 P>A No ClinGen
TOPMed
CA10391087
rs755412723
405 G>R No ClinGen
ExAC
gnomAD
rs1408531108
CA413013100
406 I>L No ClinGen
TOPMed
TCGA novel 408 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1009339370
CA329469074
412 R>S No ClinGen
Ensembl
rs771948015
CA10391078
413 V>L No ClinGen
ExAC
CA10391077
rs759343640
414 L>P No ClinGen
ExAC
gnomAD
CA10391075
rs770711084
415 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs200811997
CA329469073
415 R>H No ClinGen
ExAC
gnomAD
rs200811997
CA10391074
415 R>P No ClinGen
ExAC
gnomAD
rs868227475
CA329469072
418 V>M No ClinGen
Ensembl
CA413012969
rs1187159298
420 R>G No ClinGen
TOPMed
CA413012795
rs1050945927
431 H>Q No ClinGen
gnomAD
rs897686214
CA329469071
431 H>R No ClinGen
TOPMed
TCGA novel 434 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413012732
rs1420562306
435 Y>C No ClinGen
gnomAD
CA10391071
rs748206527
436 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs201466768
CA10391069
442 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1214624832
CA413012534
448 R>L No ClinGen
gnomAD
CA413012538
rs1214624832
448 R>Q No ClinGen
gnomAD
TCGA novel 449 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1047754089 450 I>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 451 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391054
rs769996765
459 E>K No ClinGen
ExAC
gnomAD
CA329469020
rs929388248
462 I>T No ClinGen
Ensembl
rs748181140
CA10391053
466 E>G No ClinGen
ExAC
gnomAD
CA413012178
rs1465342260
469 S>F No ClinGen
TOPMed
CA329468939
rs983846707
471 D>E No ClinGen
Ensembl
TCGA novel 471 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10391039
rs766251341
475 Q>L No ClinGen
ExAC
gnomAD
rs1358368216
CA413011898
477 I>T No ClinGen
TOPMed
rs1253763332
CA413011884
479 T>I No ClinGen
TOPMed
CA10391034
RCV000948151
rs149656736
482 L>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 482 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256798813
CA413011843
485 H>R No ClinGen
TOPMed
CA10391031
rs776163971
489 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs746227085
CA10391029
491 G>D No ClinGen
ExAC
gnomAD
CA413011781
rs1376063354
496 I>V No ClinGen
gnomAD
rs1169435306
CA413011761
499 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA329468937
rs1028799694
499 T>S No ClinGen
TOPMed
rs780779587
CA10391025
505 T>A No ClinGen
ExAC
gnomAD
CA10391024
rs200812794
505 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1022361259
CA329468936
COSM289288
506 A>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1398301212
CA413011716
506 A>V No ClinGen
TOPMed
CA329468935
rs1031335251
509 F>C No ClinGen
TOPMed
CA10391022
rs766227337
512 H>Q No ClinGen
ExAC
CA413011667
rs1601958324
514 R>T No ClinGen
Ensembl
TCGA novel 517 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413011633
rs1276371033
520 V>I No ClinGen
TOPMed

No associated diseases with P27338

1 regional properties for P27338

Type Name Position InterPro Accession
domain Amine oxidase 14 - 451 IPR002937

Functions

Description
EC Number 1.4.3.4 With oxygen as acceptor
Subcellular Localization
  • Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial envelope The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
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.

7 GO annotations of molecular function

Name Definition
aliphatic amine oxidase activity Catalysis of the reaction: an aliphatic amine + H2O + O2 = an aldehyde + NH3 + hydrogen peroxide + H+.
electron transfer activity Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient.
flavin adenine dinucleotide binding Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
identical protein binding Binding to an identical protein or proteins.
monoamine oxidase activity Catalysis of the reaction: RCH2NHR' + H2O + O2 = RCHO + R'NH2 + H2O2.
phenethylamine:oxygen oxidoreductase (deaminating) activity Catalysis of the reaction: phenylethylamine + O2 + H2O = phenylacetaldehyde + NH3 + hydrogen peroxide + H+.
primary amine oxidase activity Catalysis of the reaction: a primary amine + H2O + O2 = an aldehyde + NH3 + hydrogen peroxide.

13 GO annotations of biological process

Name Definition
dopamine catabolic process The chemical reactions and pathways resulting in the breakdown of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline.
hydrogen peroxide biosynthetic process The chemical reactions and pathways resulting in the formation of hydrogen peroxide (H2O2), a potentially harmful byproduct of aerobic cellular respiration which can cause damage to DNA.
negative regulation of serotonin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin.
neurotransmitter catabolic process The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell.
positive regulation of dopamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving dopamine.
response to aluminum ion 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 an aluminum ion stimulus.
response to corticosterone 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 corticosterone stimulus. Corticosterone is a 21 carbon steroid hormone of the corticosteroid type, produced in the cortex of the adrenal glands. In many species, corticosterone is the principal glucocorticoid, involved in regulation of fuel metabolism, immune reactions, and stress responses.
response to ethanol 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 an ethanol stimulus.
response to lipopolysaccharide Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
response to selenium ion 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 selenium ion.
response to toxic substance 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 toxic stimulus.
response to xenobiotic stimulus 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 xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
substantia nigra development The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis).

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P21398 MAOA Amine oxidase [flavin-containing] A Bos taurus (Bovine) PR
P56560 MAOB Amine oxidase [flavin-containing] B Bos taurus (Bovine) PR
Q7YRB7 MAOB Amine oxidase [flavin-containing] B Canis lupus familiaris (Dog) (Canis familiaris) PR
Q8NB78 KDM1B Lysine-specific histone demethylase 2 Homo sapiens (Human) PR
O60341 KDM1A Lysine-specific histone demethylase 1A Homo sapiens (Human) PR
P21397 MAOA Amine oxidase [flavin-containing] A Homo sapiens (Human) PR
Q6ZQ88 Kdm1a Lysine-specific histone demethylase 1A Mus musculus (Mouse) PR
Q64133 Maoa Amine oxidase [flavin-containing] A Mus musculus (Mouse) PR
Q6Q2J0 MAOA Amine oxidase [flavin-containing] A Sus scrofa (Pig) PR
P21396 Maoa Amine oxidase [flavin-containing] A Rattus norvegicus (Rat) PR
P19643 Maob Amine oxidase [flavin-containing] B Rattus norvegicus (Rat) PR
P28554 PDS 15-cis-phytoene desaturase, chloroplastic/chromoplastic Solanum lycopersicum (Tomato) (Lycopersicon esculentum) PR
Q6NSN2 mao Amine oxidase [flavin-containing] Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSNKCDVVVV GGGISGMAAA KLLHDSGLNV VVLEARDRVG GRTYTLRNQK VKYVDLGGSY
70 80 90 100 110 120
VGPTQNRILR LAKELGLETY KVNEVERLIH HVKGKSYPFR GPFPPVWNPI TYLDHNNFWR
130 140 150 160 170 180
TMDDMGREIP SDAPWKAPLA EEWDNMTMKE LLDKLCWTES AKQLATLFVN LCVTAETHEV
190 200 210 220 230 240
SALWFLWYVK QCGGTTRIIS TTNGGQERKF VGGSGQVSER IMDLLGDRVK LERPVIYIDQ
250 260 270 280 290 300
TRENVLVETL NHEMYEAKYV ISAIPPTLGM KIHFNPPLPM MRNQMITRVP LGSVIKCIVY
310 320 330 340 350 360
YKEPFWRKKD YCGTMIIDGE EAPVAYTLDD TKPEGNYAAI MGFILAHKAR KLARLTKEER
370 380 390 400 410 420
LKKLCELYAK VLGSLEALEP VHYEEKNWCE EQYSGGCYTT YFPPGILTQY GRVLRQPVDR
430 440 450 460 470 480
IYFAGTETAT HWSGYMEGAV EAGERAAREI LHAMGKIPED EIWQSEPESV DVPAQPITTT
490 500 510
FLERHLPSVP GLLRLIGLTT IFSATALGFL AHKRGLLVRV