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

2 structures for P09110

Entry ID Method Resolution Chain Position Source
2IIK X-ray 255 A A/B 30-423 PDB
AF-P09110-F1 Predicted AlphaFoldDB

367 variants for P09110

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1575270316
CA352125786
4 L>V No ClinGen
Ensembl
CA2315974
rs773965743
5 Q>R No ClinGen
ExAC
gnomAD
rs548723241
CA2315973
6 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1287612267
CA352125736
7 V>L No ClinGen
TOPMed
CA2315972
rs748918868
9 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA72881649
rs748918868
9 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs769540697
CA2315970
10 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2315967
rs368350978
12 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA2315968
rs781323776
12 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs895723344
CA72881633
13 G>C No ClinGen
TOPMed
CA352125599
rs1182844677
14 P>Q No ClinGen
gnomAD
CA2315964
rs779156817
16 D>G No ClinGen
ExAC
gnomAD
CA2315963
rs757441807
17 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs754009365
CA2315962
17 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA352125453
rs1290399594
19 W>C No ClinGen
gnomAD
rs1356637464
CA352125473
19 W>R No ClinGen
gnomAD
rs1245806392
CA352125422
20 M>I No ClinGen
TOPMed
gnomAD
CA2315961
rs764516404
21 P>L No ClinGen
ExAC
gnomAD
rs866279413
CA72881615
22 Q>K No ClinGen
gnomAD
CA2315960
rs761001248
24 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs941466063
CA72881607
25 P>S No ClinGen
TOPMed
gnomAD
CA2315959
rs773603850
26 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs1363730286
CA352125292
27 L>M No ClinGen
gnomAD
rs1308009787
CA352125286
27 L>P No ClinGen
gnomAD
CA72881594
rs184980517
28 S>N No ClinGen
1000Genomes
TOPMed
gnomAD
CA2315958
rs768053072
28 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1156894595
CA352125226
30 A>D No ClinGen
gnomAD
rs1288957907
CA352125235
30 A>T No ClinGen
TOPMed
CA352125220
rs1156894595
30 A>V No ClinGen
gnomAD
rs1251055653
CA352125202
31 P>R No ClinGen
TOPMed
gnomAD
rs1449637156
CA352125208
31 P>S No ClinGen
TOPMed
rs1238674910
CA352125185
32 Q>R No ClinGen
TOPMed
CA352125170
rs1049869731
33 A>G No ClinGen
TOPMed
gnomAD
rs1440409266
CA352125174
33 A>P No ClinGen
TOPMed
rs1049869731
CA72881589
33 A>V No ClinGen
TOPMed
gnomAD
CA352125159
rs1372716599
35 A>T No ClinGen
TOPMed
gnomAD
rs1222621643
CA352125154
35 A>V No ClinGen
gnomAD
CA352125142
rs1357893352
36 A>V No ClinGen
gnomAD
rs773806251
CA2315956
37 D>N No ClinGen
ExAC
rs1267745399
CA352125125
38 V>M No ClinGen
gnomAD
CA352125096
rs1316635451
40 V>L No ClinGen
gnomAD
CA352125088
rs1230412673
41 V>M No ClinGen
gnomAD
rs1302822146
CA352125059
43 G>V No ClinGen
gnomAD
CA352125051
rs1333977756
44 R>Q No ClinGen
TOPMed
rs1449599856
CA352125055
44 R>W No ClinGen
Ensembl
CA72881557
rs1004255722
45 R>H No ClinGen
TOPMed
gnomAD
CA352125038
rs1004255722
45 R>L No ClinGen
TOPMed
gnomAD
rs1004255722
CA352125039
45 R>P No ClinGen
TOPMed
gnomAD
CA72881544
rs922876523
46 T>A No ClinGen
TOPMed
gnomAD
rs772795388
CA72881535
46 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA2315953
rs772795388
46 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA352125001
rs1161126367
48 I>M No ClinGen
gnomAD
rs1575269834
CA352125009
48 I>V No ClinGen
Ensembl
rs1479227568
CA352124995
49 C>Y No ClinGen
gnomAD
CA72881518
rs1048707074
50 R>L No ClinGen
TOPMed
rs1048707074
CA352124985
50 R>P No ClinGen
TOPMed
CA72881523
rs888688864
50 R>W No ClinGen
Ensembl
rs1220174822
CA352124964
52 G>A No ClinGen
TOPMed
rs1428123307
CA352124968
52 G>C No ClinGen
gnomAD
CA352124944
rs1463932472
54 G>V No ClinGen
gnomAD
rs934311705
CA72881498
55 G>S No ClinGen
TOPMed
CA352124930
rs1168034478
56 F>L No ClinGen
TOPMed
gnomAD
rs978483635
CA72881489
57 K>M No ClinGen
TOPMed
gnomAD
CA352124919
rs978483635
57 K>R No ClinGen
TOPMed
gnomAD
rs978483635
CA352124920
57 K>T No ClinGen
TOPMed
gnomAD
rs1198746850
CA352124833
58 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs776765709
CA72881313
59 T>A No ClinGen
Ensembl
rs772886344
CA2315931
60 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA352124809
rs1415782334
60 T>P No ClinGen
gnomAD
CA352124801
rs772886344
60 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA352124804
rs1415782334
60 T>S No ClinGen
gnomAD
rs1391550523
CA352124755
62 D>H No ClinGen
gnomAD
rs867629907
CA72881287
63 E>* No ClinGen
Ensembl
rs566439081
CA352124687
63 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1242862105
CA352124676
64 L>V No ClinGen
TOPMed
gnomAD
CA2315927
rs746937159
66 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs746937159
CA2315926
66 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA352124627
rs746937159
66 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1249375831
CA352124617
67 A>V No ClinGen
Ensembl
CA352124594
rs1575268978
68 V>G No ClinGen
Ensembl
CA2315923
rs771023034
68 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs971976307
CA72881249
69 M>I No ClinGen
TOPMed
gnomAD
CA2315921
rs777940485
69 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs777940485
CA352124587
69 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA2315922
rs749367861
69 M>V No ClinGen
ExAC
gnomAD
rs1042161119
CA72881248
70 T>I No ClinGen
gnomAD
CA352124471
rs1575268941
72 V>G No ClinGen
Ensembl
rs756284410
CA2315920
72 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1284754116
CA352124470
73 L>F No ClinGen
gnomAD
CA352124463
rs1575268919
73 L>P No ClinGen
Ensembl
rs147670996
CA2315919
75 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1267653225
CA352124419
75 D>H No ClinGen
TOPMed
rs893442512
CA72881244
76 V>L No ClinGen
gnomAD
CA2315916
rs755405630
85 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA352124118
rs758971878
86 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1166445919
CA352124121
86 I>T No ClinGen
TOPMed
CA2315914
rs766833478
86 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs749850931
CA352124047
89 G>* No ClinGen
ExAC
TOPMed
gnomAD
CA2315912
rs749850931
89 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 93 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1281120608
CA352122479
93 Q>R No ClinGen
TOPMed
CA2315887
rs759328834
97 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 98 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352122430
rs1575266234
99 I>V No ClinGen
Ensembl
CA2315886
rs774415659
101 A>G No ClinGen
ExAC
gnomAD
rs1262166587
CA352122405
102 R>* No ClinGen
TOPMed
gnomAD
CA72879771
rs934594058
COSM1044149
102 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs769854681
CA2315885
103 I>T No ClinGen
ExAC
gnomAD
rs776720228
CA2315883
104 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA352122387
rs1288150108
104 A>V No ClinGen
gnomAD
COSM446435
rs1340762162
CA352122381
105 Q>* Variant assessed as Somatic; 4.62e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2315882
rs768813709
105 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 107 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352122339
rs1264185121
109 D>N No ClinGen
gnomAD
CA2315864
rs776632031
111 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA72878786
rs924079349
112 E>A No ClinGen
Ensembl
rs1296554572
CA352122170
115 P>L No ClinGen
TOPMed
rs1308918469
CA352122144
116 L>S No ClinGen
gnomAD
rs772301831
CA2315859
117 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs898298981
CA72878778
120 N>S No ClinGen
TOPMed
CA2315857
rs145935424
122 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1181476
CA2315856
rs369897061
124 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA352121901
COSM1422703
rs1156702815
125 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs752282975
CA2315852
126 G>R No ClinGen
ExAC
gnomAD
CA2315850
rs754614303
128 Q>* No ClinGen
ExAC
gnomAD
CA2315849
rs751301935
128 Q>R No ClinGen
ExAC
gnomAD
rs1489105282
CA352121736
130 V>A No ClinGen
gnomAD
CA352121703
rs1267798236
131 A>G No ClinGen
gnomAD
CA72878707
rs953132629
131 A>S No ClinGen
TOPMed
CA2315848
rs766171603
132 S>G No ClinGen
ExAC
gnomAD
rs758262605
CA2315847
133 I>T No ClinGen
ExAC
gnomAD
CA2315846
rs375526157
134 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs891743788
CA72878420
136 G>S No ClinGen
TOPMed
rs759767903
CA2315820
137 I>M No ClinGen
ExAC
gnomAD
CA2315821
rs139247862
137 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA352121230
rs1422676456
140 G>E No ClinGen
TOPMed
CA2315819
rs774784062
141 S>F No ClinGen
ExAC
gnomAD
rs770283001
CA72878371
142 Y>* No ClinGen
ExAC
TOPMed
CA2315816
rs773827377
142 Y>N No ClinGen
ExAC
gnomAD
rs1391336596
CA352121107
144 I>T No ClinGen
gnomAD
TCGA novel 148 C>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2315814
rs748612350
148 C>R No ClinGen
ExAC
gnomAD
rs1190876306
CA352121022
148 C>S No ClinGen
gnomAD
CA72876467
rs997134518
151 E>D No ClinGen
Ensembl
CA2315795
rs765521572
151 E>K No ClinGen
ExAC
gnomAD
rs1444364912
CA352119879
152 S>P No ClinGen
gnomAD
CA2315794
rs762374628
153 M>L No ClinGen
ExAC
gnomAD
CA72876440
rs1011685684
154 S>Y No ClinGen
TOPMed
rs768130587
CA2315792
157 D>A No ClinGen
ExAC
gnomAD
rs768130587
CA352119787
157 D>G No ClinGen
ExAC
gnomAD
CA352119658
rs775011311
160 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs745534014
CA2315788
161 P>L No ClinGen
ExAC
gnomAD
rs371675293
CA2315789
161 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA352119647
rs371675293
161 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2315786
rs145740203
163 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2315787
rs145740203
163 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754795142
CA352119604
164 I>N No ClinGen
ExAC
gnomAD
CA2315785
rs754795142
164 I>T No ClinGen
ExAC
gnomAD
CA2315784
rs146730813
166 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751653410
CA2315782
167 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2315781
rs780291309
167 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA72876383
rs1036666382
168 L>F No ClinGen
TOPMed
CA352119529
rs1164228515
169 M>T No ClinGen
gnomAD
CA72876382
rs759800711
169 M>V No ClinGen
gnomAD
TCGA novel 170 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs156265
CA2315779
VAR_011904
172 E>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA352119374
rs1218742466
174 A>V No ClinGen
TOPMed
CA2315778
rs765619359
175 R>G No ClinGen
ExAC
gnomAD
rs1234298226
CA352119356
175 R>K No ClinGen
TOPMed
rs762132492
CA2315777
180 P>A No ClinGen
ExAC
gnomAD
rs754337644
CA2315776
180 P>R No ClinGen
ExAC
gnomAD
CA72876361
rs898449554
181 M>I No ClinGen
gnomAD
rs761191465
CA2315774
182 G>E No ClinGen
ExAC
gnomAD
CA2315775
rs764544151
182 G>W No ClinGen
ExAC
CA72875301
rs767348020
183 I>V No ClinGen
Ensembl
CA72875299
rs917359852
186 E>K No ClinGen
Ensembl
rs368523915
CA2315756
189 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 190 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1330810879
CA352117823
190 E>K No ClinGen
gnomAD
rs373786619
CA2315755
191 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1345183235
CA352117771
193 G>A No ClinGen
gnomAD
rs558208794
CA2315754
193 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA2315753
rs767003724
194 I>V No ClinGen
ExAC
gnomAD
TCGA novel 195 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2315752
rs759019622
195 S>L No ClinGen
ExAC
gnomAD
rs189286587
CA2315751
196 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA352117698
CA2315749
rs762693594
197 E>D No ClinGen
ExAC
gnomAD
CA2315748
rs773070608
198 K>T No ClinGen
ExAC
gnomAD
CA2315746
rs1273986265
COSM1283204
199 Q>K Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA2315745
rs761378746
199 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA2315743
rs776755849
200 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs776755849
CA352117650
200 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs530750505
CA2315742
201 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs530750505
CA352117598
201 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2315740
rs779070885
204 L>V No ClinGen
ExAC
rs1453496014
CA352117516
205 A>V No ClinGen
TOPMed
CA352117468
rs1398619233
207 Q>* No ClinGen
gnomAD
rs757363780
CA2315739
209 K>Q No ClinGen
ExAC
gnomAD
CA72874527
rs970031657
210 A>E No ClinGen
TOPMed
rs773054135
CA2315729
210 A>P No ClinGen
ExAC
gnomAD
TCGA novel 211 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2315728
rs765100298
214 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA352117085
rs1259234880
215 S>N No ClinGen
gnomAD
CA72874520
rs202236274
216 K>* No ClinGen
Ensembl
CA352117075
rs1202384989
216 K>N No ClinGen
gnomAD
CA2315727
rs761738586
219 F>L No ClinGen
ExAC
gnomAD
CA352116990
rs376130915
223 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2315725
rs376130915
223 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778391520
CA72874460
224 V>A No ClinGen
Ensembl
rs1247586737
CA352116980
224 V>M No ClinGen
gnomAD
CA352116948
rs1227915482
227 T>P No ClinGen
gnomAD
rs1380119582
CA352116932
228 T>A No ClinGen
gnomAD
rs774228565
CA2315723
229 T>M No ClinGen
ExAC
gnomAD
CA352116907
rs1370106310
230 V>F No ClinGen
gnomAD
CA2315721
rs61095322
231 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1347863569
CA352116862
234 K>E No ClinGen
gnomAD
rs1268161331
CA352116853
234 K>N No ClinGen
TOPMed
rs1205935343
CA352116857
234 K>R No ClinGen
TOPMed
gnomAD
CA352116855
rs1205935343
234 K>T No ClinGen
TOPMed
gnomAD
CA2315719
rs113334896
235 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748475139
CA2315718
242 V>E No ClinGen
ExAC
gnomAD
CA352116759
rs1424231627
242 V>M No ClinGen
gnomAD
CA352116737
rs1272613401
244 Q>E No ClinGen
gnomAD
rs1471942469
CA352116709
246 E>K No ClinGen
gnomAD
rs1302551994
CA352116690
247 G>C No ClinGen
TOPMed
CA2315716
rs755386041
247 G>V No ClinGen
ExAC
gnomAD
CA2315715
rs752171275
248 I>M No ClinGen
ExAC
gnomAD
rs1236690879
CA352116680
248 I>V No ClinGen
TOPMed
gnomAD
CA2315714
rs140435043
249 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2315713
rs115896366
COSM1044147
249 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1215559363
CA352116633
250 P>L No ClinGen
TOPMed
rs1447731450
CA352116640
250 P>S No ClinGen
TOPMed
rs750066523
CA2315712
253 T>I No ClinGen
ExAC
gnomAD
CA352116553
rs1226799204
254 M>V No ClinGen
gnomAD
rs910547843
CA72874409
255 E>Q No ClinGen
Ensembl
CA352116495
rs1240672128
256 G>S No ClinGen
TOPMed
CA2315709
rs763955025
257 L>V No ClinGen
ExAC
gnomAD
rs1292931365
CA352116446
258 A>D No ClinGen
gnomAD
rs933541715
CA72874388
261 K>N No ClinGen
Ensembl
rs1458220790
CA352116347
263 A>P No ClinGen
gnomAD
CA72874372
rs919532888
263 A>V No ClinGen
Ensembl
rs1194846578
CA352116304
265 K>T No ClinGen
TOPMed
rs370502860
CA2315704
270 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1412006270
CA352116226
270 T>I No ClinGen
gnomAD
TCGA novel 274 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2315678
rs772648699
274 N>S No ClinGen
ExAC
gnomAD
rs1449175737
CA352115931
277 Q>* No ClinGen
gnomAD
CA352115866
rs1254446625
278 V>G No ClinGen
TOPMed
gnomAD
rs1374011134
CA352115899
278 V>M No ClinGen
gnomAD
CA352115861
rs1195539451
279 S>C No ClinGen
TOPMed
gnomAD
CA352115822
rs1559475498
280 D>N No ClinGen
Ensembl
CA352115793
rs1392240025
281 G>E No ClinGen
TOPMed
CA72874139
rs917240882
281 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 283 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352115713
rs1448839241
285 I>V No ClinGen
TOPMed
CA352115678
rs1483018642
287 L>P No ClinGen
gnomAD
CA2315675
COSM1753182
rs756886040
289 R>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs778562097
CA2315676
289 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1575259136
CA352115559
291 S>A No ClinGen
Ensembl
TCGA novel 296 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1339760479
CA352115381
297 G>S No ClinGen
gnomAD
rs889229280
CA72874111
297 G>V No ClinGen
Ensembl
CA72874084
rs557033614
301 L>F No ClinGen
1000Genomes
rs777522544
CA2315673
301 L>P No ClinGen
ExAC
gnomAD
rs1278058050
CA352115237
302 G>W No ClinGen
TOPMed
CA352115226
rs143272357
303 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2315672
rs143272357
303 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA72874071
rs4345105
304 L>M No ClinGen
gnomAD
CA2315670
rs767316650
307 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA352115045
rs1559475420
311 G>R No ClinGen
Ensembl
rs1397615100
CA352115029
312 V>F No ClinGen
gnomAD
rs377196505
CA72874051
313 P>L No ClinGen
ESP
CA2315666
rs765272869
314 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA72874050
rs973530993
314 P>H No ClinGen
TOPMed
gnomAD
rs963549652
CA72874049
315 D>A No ClinGen
TOPMed
gnomAD
CA72874046
rs1036981545
316 I>V No ClinGen
gnomAD
rs761933241
CA72874034
318 G>C No ClinGen
ExAC
gnomAD
rs761933241
CA2315665
318 G>S No ClinGen
ExAC
gnomAD
rs140127056
CA352114813
319 I>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140127056
CA2315664
319 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2315662
rs763447621
323 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA72874029
rs980943109
324 A>G No ClinGen
Ensembl
TCGA novel 324 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2315661
rs775866883
326 P>L No ClinGen
ExAC
gnomAD
CA2315660
rs772624215
327 V>E No ClinGen
ExAC
gnomAD
rs746372804
CA2315659
330 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs765838107
CA352113038
333 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs765838107
CA2315637
333 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs117484375
CA2315634
339 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746770119
CA2315633
340 D>N No ClinGen
ExAC
gnomAD
rs1448165797
CA352112777
341 I>V No ClinGen
gnomAD
rs151138541
CA2315631
COSM1044146
343 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750386233
CA2315630
344 I>T No ClinGen
ExAC
gnomAD
CA2315629
rs528682842
345 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1236950273
CA352112442
347 A>G No ClinGen
gnomAD
rs752944703
CA2315627
349 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA352112280
rs1259784366
351 Q>* No ClinGen
TOPMed
rs1250084097
CA352112105
352 A>G No ClinGen
TOPMed
rs1259030058
CA352112129
352 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA352112062
rs1190534320
353 A>V No ClinGen
TOPMed
rs371052867
CA2315607
354 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377017874
CA2315608
354 Y>H No ClinGen
ESP
ExAC
TOPMed
CA72871896
rs867839524
355 C>R No ClinGen
TOPMed
rs1268460899
CA352111887
357 E>K No ClinGen
gnomAD
COSM1044145
rs755191918
CA2315605
360 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs897946138
CA352111812
360 R>P No ClinGen
TOPMed
rs897946138
CA72871873
360 R>Q No ClinGen
TOPMed
CA2315602
rs142074753
363 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202069337
CA2315601
363 P>L No ClinGen
ExAC
gnomAD
TCGA novel 363 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA72871864
rs202069337
363 P>R No ClinGen
ExAC
gnomAD
CA352111762
rs142074753
363 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142074753
CA352111768
363 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA352111732
rs1444023073
364 E>G No ClinGen
gnomAD
rs1354656513
CA352111752
364 E>K No ClinGen
TOPMed
TCGA novel 364 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1553626595
CA2315597
366 V>M No ClinGen
Ensembl
rs762315878
CA2315596
367 N>S No ClinGen
ExAC
gnomAD
rs1163698345
CA352111616
368 P>L No ClinGen
TOPMed
gnomAD
CA352111621
rs1163698345
368 P>R No ClinGen
TOPMed
gnomAD
rs112913428
CA72871839
369 L>P No ClinGen
Ensembl
rs112913428
CA72871842
369 L>Q No ClinGen
Ensembl
rs760316562
CA2315593
370 G>R No ClinGen
ExAC
gnomAD
rs1418058073
CA352111567
371 G>S No ClinGen
gnomAD
CA352111544
rs1205344619
371 G>V No ClinGen
TOPMed
TCGA novel 371 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201922536
CA2315591
372 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1481791347
CA352111392
377 H>Y No ClinGen
TOPMed
gnomAD
rs771877476
CA352111272
381 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs771877476
CA2315590
381 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs188647131
CA2315589
381 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs770705389
CA2315587
385 R>* No ClinGen
ExAC
gnomAD
CA2315586
rs749249005
385 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1422316204
CA352111107
386 Q>* No ClinGen
TOPMed
rs2229528
VAR_069148
CA2315585
387 V>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1368210524
CA352111047
388 I>T No ClinGen
TOPMed
CA2315583
rs138308587
389 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2315584
rs138308587
389 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA352111001
rs1441426643
391 L>F No ClinGen
gnomAD
rs117916664
CA352110978
COSM242763
392 N>I prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs117916664
CA2315580
392 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 393 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352110925
rs1271671742
395 K>E No ClinGen
TOPMed
rs374655368
CA2315579
396 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2315578
rs377002590
396 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs528719459
CA2315576
397 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA2315575
rs145705119
397 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2315574
rs199630611
398 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA2315548
rs143586524
400 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2315547
rs375002308
403 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA352109972
rs1195598671
406 S>F No ClinGen
gnomAD
CA352109962
rs1256933985
407 M>T No ClinGen
gnomAD
CA352109970
rs1474235864
407 M>V No ClinGen
gnomAD
rs769791958
CA2315545
409 I>V No ClinGen
ExAC
gnomAD
CA2315544
COSM1044144
rs148896847
410 G>R endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2315541
rs548611153
412 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1575254439
CA352109846
413 M>R No ClinGen
Ensembl
CA352109798
rs1231096158
415 A>V No ClinGen
gnomAD
rs771165029
CA2315539
416 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs749612882
CA2315538
417 A>T No ClinGen
ExAC
gnomAD
CA2315534
rs140048660
418 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA352109710
rs1575254373
419 F>L No ClinGen
Ensembl
rs751145499
CA2315532
421 Y>* No ClinGen
ExAC
gnomAD
CA352109639
rs1575254365
421 Y>S No ClinGen
Ensembl
rs1173037316
CA352109630
422 P>S No ClinGen
TOPMed
gnomAD
CA352109632
rs1173037316
422 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA352109593
rs1230063442
423 G>E No ClinGen
gnomAD

No associated diseases with P09110

5 regional properties for P09110

Type Name Position InterPro Accession
active_site Thiolase, active site 403 - 416 IPR020610
conserved_site Thiolase, conserved site 367 - 383 IPR020613
active_site Thiolase, acyl-enzyme intermediate active site 119 - 137 IPR020615
domain Thiolase, N-terminal 38 - 291 IPR020616
domain Thiolase, C-terminal 300 - 420 IPR020617

Functions

Description
EC Number 2.3.1.9 Transferring groups other than amino-acyl groups
Subcellular Localization
  • Peroxisome
  • Transported into peroxisomes following association with PEX7
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
peroxisomal matrix The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase.
peroxisome A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.
specific granule lumen The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

5 GO annotations of molecular function

Name Definition
acetate CoA-transferase activity Catalysis of the reaction: acyl-CoA + acetate = a fatty acid anion + acetyl-CoA.
acetyl-CoA C-acetyltransferase activity Catalysis of the reaction: 2 acetyl-CoA = CoA + acetoacetyl-CoA.
acetyl-CoA C-acyltransferase activity Catalysis of the reaction: acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.
acetyl-CoA C-myristoyltransferase activity Catalysis of the reaction: myristoyl-CoA + acetyl-CoA = 3-oxopalmitoyl-CoA + CoA.
palmitoyl-CoA oxidase activity Catalysis of the reaction: palmitoyl-CoA + O2 = trans-2,3-dehydropalmitoyl-CoA + hydrogen peroxide.

6 GO annotations of biological process

Name Definition
alpha-linolenic acid metabolic process The chemical reactions and pathways involving alpha-linolenic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2.
bile acid metabolic process The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.
fatty acid beta-oxidation A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively).
fatty acid beta-oxidation using acyl-CoA oxidase A fatty acid beta-oxidation pathway in which the initial step, which converts an acyl-CoA to a trans-2-enoyl-CoA, is catalyzed by acyl-CoA oxidase; the electrons removed by oxidation pass directly to oxygen and produce hydrogen peroxide, which is cleaved by peroxisomal catalases. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and ends when only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively).
phenylacetate catabolic process The chemical reactions and pathways resulting in the breakdown of phenylacetate.
very long-chain fatty acid metabolic process The chemical reactions and pathways involving a fatty acid which has a chain length greater than C22.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P27796 POT1 3-ketoacyl-CoA thiolase, peroxisomal Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q921H8 Acaa1a 3-ketoacyl-CoA thiolase A, peroxisomal Mus musculus (Mouse) PR
Q8VCH0 Acaa1b 3-ketoacyl-CoA thiolase B, peroxisomal Mus musculus (Mouse) PR
P21775 Acaa1a 3-ketoacyl-CoA thiolase A, peroxisomal Rattus norvegicus (Rat) PR
P07871 Acaa1b 3-ketoacyl-CoA thiolase B, peroxisomal Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MQRLQVVLGH LRGPADSGWM PQAAPCLSGA PQASAADVVV VHGRRTAICR AGRGGFKDTT
70 80 90 100 110 120
PDELLSAVMT AVLKDVNLRP EQLGDICVGN VLQPGAGAIM ARIAQFLSDI PETVPLSTVN
130 140 150 160 170 180
RQCSSGLQAV ASIAGGIRNG SYDIGMACGV ESMSLADRGN PGNITSRLME KEKARDCLIP
190 200 210 220 230 240
MGITSENVAE RFGISREKQD TFALASQQKA ARAQSKGCFQ AEIVPVTTTV HDDKGTKRSI
250 260 270 280 290 300
TVTQDEGIRP STTMEGLAKL KPAFKKDGST TAGNSSQVSD GAAAILLARR SKAEELGLPI
310 320 330 340 350 360
LGVLRSYAVV GVPPDIMGIG PAYAIPVALQ KAGLTVSDVD IFEINEAFAS QAAYCVEKLR
370 380 390 400 410 420
LPPEKVNPLG GAVALGHPLG CTGARQVITL LNELKRRGKR AYGVVSMCIG TGMGAAAVFE
YPGN