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

1 structures for Q9UBV8

Entry ID Method Resolution Chain Position Source
AF-Q9UBV8-F1 Predicted AlphaFoldDB

246 variants for Q9UBV8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA339592541
rs1262928168
2 A>T No ClinGen
gnomAD
CA20192578
rs764113135
3 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs764113135
CA732460
3 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA339592532
rs760759780
3 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs764113135
CA732459
3 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs767723197
CA339592529
4 Y>C No ClinGen
ExAC
gnomAD
rs140479455
CA732456
4 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140479455
CA339592530
4 Y>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA732455
rs767723197
4 Y>S No ClinGen
ExAC
gnomAD
rs141265870
CA732453
5 P>S No ClinGen
ESP
ExAC
gnomAD
rs771358083
CA732452
6 Y>* No ClinGen
ExAC
gnomAD
CA339592513
rs1454103643
7 R>G No ClinGen
gnomAD
CA732451
rs540821693
7 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA339592511
rs540821693
7 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA339592512
rs1454103643
7 R>W No ClinGen
gnomAD
TCGA novel 8 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA732450
rs773868133
8 Q>R No ClinGen
ExAC
gnomAD
rs1306837647
CA339591914
11 P>Q No ClinGen
gnomAD
rs949458541
CA339591918
11 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs949458541
CA20185570
11 P>T No ClinGen
gnomAD
rs867319495
CA20185562
12 G>R No ClinGen
gnomAD
rs1234874661
CA339591901
14 A>T No ClinGen
TOPMed
gnomAD
CA339591877
rs1295374474
17 A>V No ClinGen
gnomAD
CA339591871
rs1356394145
18 P>L No ClinGen
gnomAD
CA732428
rs768248106
19 G>A No ClinGen
ExAC
gnomAD
rs1398738320
CA339591865
20 A>T No ClinGen
gnomAD
CA732425
rs202217061
COSM1341733
22 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs771699009
CA732424
25 Y>C No ClinGen
ExAC
gnomAD
rs1475753291
CA339591826
26 Y>H No ClinGen
gnomAD
rs1417544737
CA339591819
27 P>T No ClinGen
gnomAD
rs1440283860
CA339591805
29 P>S No ClinGen
gnomAD
CA339591799
rs1398540135
30 P>R No ClinGen
gnomAD
rs142951278
CA339591800
30 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142951278
CA732421
30 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA732419
rs781083110
31 N>H No ClinGen
ExAC
gnomAD
rs368906197
CA732418
31 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763321866
CA732415
36 Y>* No ClinGen
ExAC
gnomAD
CA339591759
rs1242953431
36 Y>C No ClinGen
TOPMed
gnomAD
CA339591754
rs1192027286
37 G>R No ClinGen
TOPMed
rs1307845734
CA339591746
38 S>N No ClinGen
gnomAD
rs201449486
CA732413
40 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA339591724
rs1475319446
42 P>A No ClinGen
TOPMed
gnomAD
rs777221074
CA732411
42 P>L No ClinGen
ExAC
gnomAD
rs375817960
CA732410
43 G>A No ClinGen
ESP
ExAC
gnomAD
rs1223053516
CA339591720
43 G>S No ClinGen
TOPMed
CA732409
rs149013148
46 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339591696
rs1365153595
47 G>R No ClinGen
gnomAD
rs1181970670
CA339591688
48 G>C No ClinGen
gnomAD
rs1438567452
CA339591687
48 G>D No ClinGen
gnomAD
TCGA novel 50 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA732404
COSM1341732
rs745569188
53 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA20185429
rs952375748
54 P>T No ClinGen
Ensembl
rs369188697
CA732400
57 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1239645955
CA339591633
57 P>L No ClinGen
gnomAD
CA732401
rs369188697
57 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA20185416
rs11551772
58 P>L No ClinGen
Ensembl
rs1374773204
CA339591630
58 P>S No ClinGen
gnomAD
CA339591615
rs1305647778
61 G>R No ClinGen
TOPMed
gnomAD
rs1402785884
CA339591591
64 Y>* No ClinGen
gnomAD
CA732398
rs756072857
64 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA20185380
rs965120879
66 H>D No ClinGen
TOPMed
TCGA novel 68 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1386072034
CA339591569
68 N>H No ClinGen
gnomAD
CA732397
rs540510395
68 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA339591563
rs1418651930
69 P>A No ClinGen
gnomAD
rs780044590
CA732396
73 P>H No ClinGen
ExAC
gnomAD
rs780044590
CA20185357
73 P>R No ClinGen
ExAC
gnomAD
rs141771149
CA732394
79 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757713580
CA732392
81 Y>H No ClinGen
ExAC
gnomAD
CA339591483
rs1409767499
82 G>S No ClinGen
TOPMed
TCGA novel 82 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA732389
COSM908165
rs761145394
83 G>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1344988932
CA339591472
84 A>T No ClinGen
gnomAD
CA20185262
rs201448518
84 A>V No ClinGen
gnomAD
rs767054971
CA339591464
85 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs767054971
CA732387
85 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs149304800
CA339591462
86 P>A No ClinGen
ESP
TOPMed
gnomAD
rs149304800
CA20185253
COSM3711316
86 P>S upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
CA732385
rs774005967
87 G>R No ClinGen
ExAC
gnomAD
rs1000901823
CA20185226
88 G>D No ClinGen
Ensembl
CA732384
rs145077126
90 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749103112
CA20185218
92 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1203493522
CA339591425
92 Q>P No ClinGen
TOPMed
rs772934269
CA732382
93 P>S No ClinGen
ExAC
gnomAD
CA20185212
rs200144237
94 P>S No ClinGen
1000Genomes
TOPMed
rs200144237
CA339591415
94 P>T No ClinGen
1000Genomes
TOPMed
rs1014100052
CA20185194
96 S>G No ClinGen
TOPMed
gnomAD
rs1302766166
CA339591401
96 S>N No ClinGen
TOPMed
CA339591398
rs1447617728
97 S>T No ClinGen
TOPMed
rs748072690
CA732380
98 Y>C No ClinGen
ExAC
gnomAD
CA339591391
rs1307641250
98 Y>H No ClinGen
gnomAD
rs1487455960
CA339591385
99 G>S No ClinGen
gnomAD
rs746034322
CA732377
102 Q>H No ClinGen
ExAC
gnomAD
CA732376
rs779283966
104 G>R No ClinGen
ExAC
gnomAD
rs374031460
CA732375
105 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339591328
rs374031460
105 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370676228
CA20185153
105 L>R No ClinGen
ESP
TOPMed
rs779582221
CA732348
109 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs557572685
CA732347
110 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1379827108
CA339591103
110 G>V No ClinGen
gnomAD
CA339591102
rs140595911
111 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA732346
rs140595911
111 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA732345
rs750063064
112 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs765028173
CA732343
114 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs761519578
CA732342
115 V>A No ClinGen
ExAC
gnomAD
TCGA novel 116 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA732340
rs749930655
120 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA732339
rs760744671
121 S>P No ClinGen
ExAC
gnomAD
CA732337
rs774542516
122 W>C No ClinGen
ExAC
gnomAD
rs770948880
CA732336
124 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA339590967
rs1365240115
124 Q>K No ClinGen
gnomAD
CA339590949
rs1400913518
125 S>L No ClinGen
TOPMed
gnomAD
CA339590948
rs1296477248
126 V>M No ClinGen
TOPMed
gnomAD
CA20183872
rs1031650486
127 D>N No ClinGen
TOPMed
CA732334
rs777861045
131 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs770119323
CA732333
132 G>S No ClinGen
ExAC
gnomAD
CA339590858
rs1422171269
133 Y>* No ClinGen
gnomAD
CA732331
rs781584359
133 Y>C No ClinGen
ExAC
gnomAD
CA20183830
rs998800886
136 M>I No ClinGen
TOPMed
rs752087793
CA732329
136 M>T No ClinGen
ExAC
gnomAD
rs1488439627
CA339590831
136 M>V No ClinGen
gnomAD
rs757856977
CA732327
138 E>D No ClinGen
ExAC
gnomAD
CA20183804
rs1043312412
140 K>R No ClinGen
TOPMed
gnomAD
CA339590777
rs1245303517
142 A>S No ClinGen
TOPMed
gnomAD
rs750028128
CA732326
145 N>D No ClinGen
ExAC
gnomAD
rs1310364579
CA339590755
146 C>R No ClinGen
gnomAD
rs1047852178
CA20183787
147 N>H No ClinGen
Ensembl
rs143340788
CA732325
147 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA339590736
rs1218990837
148 W>* No ClinGen
TOPMed
gnomAD
CA20183774
rs757232708
148 W>S No ClinGen
Ensembl
rs1339544502
CA339590717
151 F>S No ClinGen
gnomAD
CA339590707
CA339590708
rs1416786604
152 N>K No ClinGen
gnomAD
CA20183773
rs373796290
152 N>S No ClinGen
ESP
TOPMed
gnomAD
rs756996122
CA339590699
153 D>E No ClinGen
ExAC
gnomAD
rs1302324356
CA339590687
155 T>N No ClinGen
gnomAD
rs1570270271
CA339590689
155 T>P No ClinGen
Ensembl
CA339590674
rs1356760970
157 L>F No ClinGen
gnomAD
CA339590671
rs1215298204
157 L>R No ClinGen
TOPMed
CA732322
rs753666924
158 M>T No ClinGen
ExAC
CA339590649
rs1477715410
160 I>T No ClinGen
gnomAD
TCGA novel 161 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339590620
rs1265113837
162 M>I No ClinGen
gnomAD
CA339590622
rs1557584621
162 M>T No ClinGen
Ensembl
CA339590626
rs1234886671
162 M>V No ClinGen
TOPMed
gnomAD
rs1242793392
CA339590605
164 D>G No ClinGen
TOPMed
gnomAD
CA339590600
rs1487926990
165 K>E No ClinGen
TOPMed
rs763935107
CA339590570
169 G>A No ClinGen
ExAC
gnomAD
CA732304
rs763935107
169 G>D No ClinGen
ExAC
gnomAD
rs1375287373
CA339590566
170 R>C No ClinGen
gnomAD
rs147722531
CA732303
COSM314085
170 R>H lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752605388
CA732302
171 I>F No ClinGen
ExAC
gnomAD
rs752605388
CA339590562
171 I>V No ClinGen
ExAC
gnomAD
CA732299
rs773134257
172 D>G No ClinGen
ExAC
gnomAD
CA732300
rs759567297
COSM3419112
172 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765386131
CA732298
174 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA732296
rs776849452
175 G>S No ClinGen
ExAC
rs1570268797
CA339590511
179 L>P No ClinGen
Ensembl
rs1266334678
CA339590499
181 K>E No ClinGen
gnomAD
CA732292
rs772440392
181 K>N No ClinGen
ExAC
gnomAD
CA732291
rs146809023
182 F>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369403984
CA20183268
183 I>V No ClinGen
ESP
TOPMed
CA339590478
rs1557584492
184 Q>E No ClinGen
Ensembl
CA732290
rs778246626
184 Q>R No ClinGen
ExAC
gnomAD
rs1277153576
CA339590466
185 Q>H No ClinGen
gnomAD
rs1351537862
CA339590467
185 Q>L No ClinGen
gnomAD
rs756851161
CA732289
186 W>R No ClinGen
ExAC
gnomAD
rs1330901786
CA339590444
188 N>S No ClinGen
gnomAD
CA339590424
rs1384790829
191 Q>* No ClinGen
gnomAD
rs755887392
CA732286
192 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs781079521
CA732285
195 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA732283
rs140422275
195 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA732284
rs781079521
195 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA732282
rs751533337
197 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1196441365
CA339590382
197 R>H No ClinGen
TOPMed
gnomAD
CA732281
rs765240041
198 S>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 200 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA732280
rs144874149
201 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA20183139
rs887273963
208 Q>E No ClinGen
TOPMed
CA339589909
rs201297417
211 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA732227
rs201297417
211 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA339589902
rs985013441
212 Q>H No ClinGen
TOPMed
rs374586693
CA339589905
212 Q>P No ClinGen
gnomAD
rs374586693
CA20182155
212 Q>R No ClinGen
gnomAD
CA339589889
rs1199000368
214 G>A No ClinGen
TOPMed
rs1426398480
CA339589886
215 Y>H No ClinGen
gnomAD
rs778826617
CA732226
216 N>K No ClinGen
ExAC
gnomAD
rs1190948123
CA339589874
216 N>S No ClinGen
gnomAD
rs953350614
CA20182143
218 S>G No ClinGen
Ensembl
TCGA novel 222 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1488337185
CA339589829
222 T>I No ClinGen
gnomAD
CA339589836
rs1570264867
222 T>P No ClinGen
Ensembl
rs1203030784
CA339589811
224 L>V No ClinGen
TOPMed
CA339589777
rs1213633075
227 S>F No ClinGen
gnomAD
rs1313849281
CA339589771
228 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs139896724
CA732223
228 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1221334939
CA339589758
229 Y>S No ClinGen
TOPMed
rs1218449835
CA339589750
230 C>S No ClinGen
gnomAD
CA20182115
rs547542586
230 C>Y No ClinGen
gnomAD
rs1280341427
CA339589735
231 P>A No ClinGen
gnomAD
rs1280341427
CA339589733
231 P>S No ClinGen
gnomAD
rs755186565
CA732222
232 R>C No ClinGen
ExAC
gnomAD
rs371830019
CA732221
232 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1287186849
CA339589708
233 S>F No ClinGen
gnomAD
rs1228639770
CA339589717
233 S>P No ClinGen
TOPMed
rs866571271
CA20182098
234 A>T No ClinGen
Ensembl
rs758834965
CA732219
235 N>S No ClinGen
ExAC
gnomAD
rs569702331
CA20182085
237 A>P No ClinGen
1000Genomes
rs1468602435
CA339589662
238 M>T No ClinGen
gnomAD
CA732218
rs549808725
238 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA732217
rs765758652
240 L>F No ClinGen
ExAC
gnomAD
rs780909453
CA732216
241 D>H No ClinGen
ExAC
gnomAD
CA732215
rs776178785
242 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs763547860
CA732214
242 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1019932391
CA20182059
243 F>L No ClinGen
TOPMed
gnomAD
CA339589593
rs1557583019
245 Q>R No ClinGen
Ensembl
CA339589567
rs1256547111
247 C>* No ClinGen
TOPMed
gnomAD
rs1209253535
CA339589555
248 T>I No ClinGen
gnomAD
CA339589558
rs1209253535
248 T>N No ClinGen
gnomAD
CA339589546
rs1227258375
249 Q>P No ClinGen
gnomAD
CA339589517
rs1321169406
252 V>L No ClinGen
gnomAD
rs760275627
CA732212
254 T>R No ClinGen
ExAC
gnomAD
rs1570264402
CA339589474
256 A>S No ClinGen
Ensembl
rs146006007
CA339589453
258 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146006007
CA732210
258 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775137790
CA732211
258 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA732209
rs745659069
259 E>K No ClinGen
ExAC
gnomAD
CA732208
rs774191997
260 K>E No ClinGen
ExAC
gnomAD
rs1175892699
CA339589408
262 T>A No ClinGen
TOPMed
CA20181981
rs539499336
263 A>S No ClinGen
1000Genomes
CA732206
rs749213335
264 V>I No ClinGen
ExAC
gnomAD
CA732207
rs749213335
264 V>L No ClinGen
ExAC
gnomAD
rs781284157
CA732205
265 Q>* No ClinGen
ExAC
gnomAD
CA339589365
rs1443527794
266 G>D No ClinGen
gnomAD
CA732204
rs768631094
267 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA339589333
rs1238516900
269 R>Q No ClinGen
TOPMed
CA339589335
rs1465872048
269 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA20181956
rs922785030
273 E>K No ClinGen
TOPMed
gnomAD
CA339589268
rs1182964415
276 V>A No ClinGen
gnomAD
CA732199
rs779189008
276 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs757745336
CA732198
277 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA339589255
CA732196
rs763606589
278 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs754327994
CA732197
278 M>V No ClinGen
ExAC
gnomAD
CA732195
rs760183446
279 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA339589247
rs760183446
279 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1247207063
CA339589220
282 R>Q No ClinGen
gnomAD
rs937496556
COSM908160
CA20181929
282 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD

No associated diseases with Q9UBV8

3 regional properties for Q9UBV8

Type Name Position InterPro Accession
conserved_site Terpene synthase, conserved site 605 - 619 IPR002365
domain Squalene cyclase, C-terminal 415 - 752 IPR032696
domain Squalene cyclase, N-terminal 100 - 394 IPR032697

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Endoplasmic reticulum
  • Membrane ; Peripheral membrane protein
  • Cytoplasmic vesicle, COPII-coated vesicle membrane ; Peripheral membrane protein
  • Membrane-associated in the presence of Ca(2+) (PubMed:11278427)
  • Localizes to endoplasmic reticulum exit site (ERES) (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
COPII vesicle coat One of two multimeric complexes that forms a membrane vesicle coat. COPII is best characterized in S. cerevisiae, where the subunits are called Sar1p, Sec13p, Sec31p, Sec23p, and Sec24p. Vesicles with COPII coats are found associated with endoplasmic reticulum (ER) membranes at steady state.
Cul3-RING ubiquitin ligase complex A ubiquitin ligase complex in which a cullin from the Cul3 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a BTB-domain-containing protein.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.

7 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
calcium-dependent protein binding Binding to a protein or protein complex in the presence of calcium.
identical protein binding Binding to an identical protein or proteins.
protein dimerization activity The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
RNA binding Binding to an RNA molecule or a portion thereof.
ubiquitin ligase-substrate adaptor activity The binding activity of a molecule that brings together a ubiquitin ligase and its substrate. Usually mediated by F-box BTB/POZ domain proteins.

6 GO annotations of biological process

Name Definition
COPII vesicle coating The addition of COPII proteins and adaptor proteins to ER membranes during the formation of transport vesicles, forming a vesicle coat.
endoplasmic reticulum to Golgi vesicle-mediated transport The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
neural crest cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.
neural crest formation The formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes.
positive regulation of protein monoubiquitination Any process that activates or increases the frequency, rate or extent of protein monoubiquitination.
response to calcium 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 calcium ion stimulus.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6MZZ7 CAPN13 Calpain-13 Homo sapiens (Human) PR
P28676 GCA Grancalcin Homo sapiens (Human) PR
Q3UW68 Capn13 Calpain-13 Mus musculus (Mouse) PR
Q8BFY6 Pef1 Peflin Mus musculus (Mouse) PR
Q5BK10 Capn13 Calpain-13 Rattus norvegicus (Rat) PR
Q641Z8 Pef1 Peflin Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MASYPYRQGC PGAAGQAPGA PPGSYYPGPP NSGGQYGSGL PPGGGYGGPA PGGPYGPPAG
70 80 90 100 110 120
GGPYGHPNPG MFPSGTPGGP YGGAAPGGPY GQPPPSSYGA QQPGLYGQGG APPNVDPEAY
130 140 150 160 170 180
SWFQSVDSDH SGYISMKELK QALVNCNWSS FNDETCLMMI NMFDKTKSGR IDVYGFSALW
190 200 210 220 230 240
KFIQQWKNLF QQYDRDRSGS ISYTELQQAL SQMGYNLSPQ FTQLLVSRYC PRSANPAMQL
250 260 270 280
DRFIQVCTQL QVLTEAFREK DTAVQGNIRL SFEDFVTMTA SRML