Q9Y385
Gene name |
UBE2J1 (NCUBE1, CGI-76, HSPC153, HSPC205) |
Protein name |
Ubiquitin-conjugating enzyme E2 J1 |
Names |
E2 ubiquitin-conjugating enzyme J1, Non-canonical ubiquitin-conjugating enzyme 1, NCUBE-1, Yeast ubiquitin-conjugating enzyme UBC6 homolog E, HsUBC6e |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51465 |
EC number |
2.3.2.23: Aminoacyltransferases |
Protein Class |
|

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 Q9Y385
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9Y385-F1 | Predicted | AlphaFoldDB |
223 variants for Q9Y385
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs758299881 CA364959907 |
2 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364959921 rs1400129743 |
2 | E>K | No |
ClinGen gnomAD |
|
rs1055012433 CA364959893 |
3 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1055012433 CA142924874 |
3 | T>N | No |
ClinGen TOPMed gnomAD |
|
CA3920763 rs750193168 |
4 | R>H | No |
ClinGen ExAC gnomAD |
|
CA364959876 rs1164800362 |
5 | Y>C | No |
ClinGen gnomAD |
|
rs910733924 CA142924850 |
5 | Y>N | No |
ClinGen Ensembl |
|
CA364959868 rs1474370248 |
6 | N>S | No |
ClinGen gnomAD |
|
CA364959847 rs1193027961 |
9 | S>N | No |
ClinGen gnomAD |
|
TCGA novel | 9 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA142924846 rs867801291 |
11 | A>S | No |
ClinGen Ensembl |
|
CA3920745 rs771791752 |
14 | R>C | No |
ClinGen ExAC gnomAD |
|
CA364956821 rs1156378232 |
14 | R>H | No |
ClinGen TOPMed |
|
rs778835829 CA3920743 |
16 | M>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 18 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3920742 rs200104225 |
19 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs981021544 CA142918602 |
22 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs777540370 CA3920740 |
26 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1582486749 CA364956718 |
26 | T>I | No |
ClinGen Ensembl |
|
TCGA novel | 27 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770443851 CA142918599 |
28 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA3920738 rs751592887 |
31 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751592887 CA3920739 |
31 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375490992 CA3920737 |
32 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
rs1179687110 CA364956679 |
32 | Q>R | No |
ClinGen gnomAD |
|
rs1374378527 CA364956670 |
33 | P>R | No |
ClinGen TOPMed |
|
CA3920736 rs763096948 |
35 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1423045933 CA364959805 |
38 | L>V | No |
ClinGen TOPMed |
|
CA142955830 rs775747904 |
39 | F>S | No |
ClinGen Ensembl |
|
CA364959720 rs1483878465 |
44 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs750694699 CA3920718 |
52 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA142955779 rs8099 VAR_019689 |
55 | G>V | No |
ClinGen UniProt Ensembl dbSNP |
|
CA3920715 rs757663102 |
56 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1428776179 CA364959571 |
57 | V>I | No |
ClinGen gnomAD |
|
CA364959540 rs754093091 |
59 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764665521 CA3920713 |
60 | G>R | No |
ClinGen ExAC gnomAD |
|
rs776129230 CA3920711 |
61 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs761329904 CA3920712 |
61 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1164556978 CA364959514 |
62 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA364959503 rs1377571198 |
63 | V>I | No |
ClinGen TOPMed |
|
CA364959486 rs1416652267 |
64 | L>P | No |
ClinGen gnomAD |
|
CA364959429 rs1218265763 |
69 | P>T | No |
ClinGen gnomAD |
|
rs1296715391 CA364959351 |
74 | S>R | No |
ClinGen TOPMed |
|
TCGA novel | 75 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364959330 rs1308947714 |
76 | I>S | No |
ClinGen TOPMed |
|
rs142719646 | 79 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA3920707 rs774084923 |
79 | T>M | No |
ClinGen ExAC gnomAD |
|
rs779208542 CA3920696 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
rs138380064 CA3920695 |
81 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
CA364958805 rs1318560394 |
83 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs754084351 CA3920694 |
83 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA364958749 rs1188793869 |
86 | V>L | No |
ClinGen TOPMed |
|
rs764609861 CA3920693 |
87 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 89 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3920691 rs539906752 |
94 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs768098329 CA3920690 |
97 | H>L | No |
ClinGen ExAC gnomAD |
|
rs868317393 CA142952411 |
103 | Q>* | No |
ClinGen Ensembl |
|
rs759140538 CA3920689 |
103 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA364958493 rs773680574 |
105 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3920688 rs773680574 |
105 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA142952384 rs906394272 |
106 | W>* | No |
ClinGen Ensembl |
|
rs1045774434 CA142952374 |
108 | I>V | No |
ClinGen gnomAD |
|
rs972323410 CA142952294 |
110 | T>A | No |
ClinGen Ensembl |
|
rs749523135 CA3920676 |
111 | A>V | No |
ClinGen ExAC gnomAD |
|
rs756579340 CA3920674 |
115 | I>N | No |
ClinGen ExAC gnomAD |
|
rs753063341 CA3920673 |
117 | G>R | No |
ClinGen ExAC gnomAD |
|
CA3920672 rs768455408 |
119 | M>I | No |
ClinGen ExAC |
|
rs867037645 CA142952243 |
120 | P>S | No |
ClinGen Ensembl |
|
rs781768933 CA3920670 |
121 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA142952201 rs764695309 |
121 | T>I | No |
ClinGen TOPMed |
|
rs1389049746 CA364958340 |
123 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1466082564 CA364958314 |
127 | I>V | No |
ClinGen TOPMed |
|
rs1440157106 CA364958303 |
128 | G>A | No |
ClinGen gnomAD |
|
CA364958296 rs1427687502 |
129 | S>C | No |
ClinGen gnomAD |
|
CA3920668 rs752105608 |
130 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1304570598 CA364958287 |
131 | D>G | No |
ClinGen TOPMed |
|
rs1441790700 CA364958275 |
133 | T>P | No |
ClinGen gnomAD |
|
rs140886444 CA3920666 |
134 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1320991945 CA364958264 |
135 | E>K | No |
ClinGen TOPMed |
|
rs750104620 CA3920665 |
136 | E>K | No |
ClinGen ExAC |
|
CA3920663 rs764817698 |
139 | A>V | No |
ClinGen ExAC gnomAD |
|
rs776341233 CA3920661 |
142 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364958206 rs1295636418 |
143 | K>I | No |
ClinGen TOPMed |
|
rs1164213338 CA364957832 |
143 | K>N | No |
ClinGen TOPMed |
|
CA3920647 rs749873369 |
146 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364957767 rs1554200775 |
148 | C>G | No |
ClinGen Ensembl |
|
rs753474061 CA3920644 |
151 | G>R | No |
ClinGen ExAC gnomAD |
|
CA364957662 rs1322437252 |
154 | S>C | No |
ClinGen TOPMed |
|
CA3920641 rs775323256 |
156 | M>I | No |
ClinGen ExAC gnomAD |
|
CA364957635 rs1340002029 |
156 | M>V | No |
ClinGen gnomAD |
|
CA3920639 rs763140036 CA364957587 |
158 | D>E | No |
ClinGen ExAC gnomAD |
|
CA364957595 rs1164855346 |
158 | D>N | No |
ClinGen gnomAD |
|
CA3920638 rs773363128 |
159 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769994225 CA3920637 |
160 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1197195777 CA364957506 |
165 | S>F | No |
ClinGen gnomAD |
|
rs1451329250 CA364957479 |
167 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs572279887 CA364957473 |
167 | S>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs554466422 CA3920635 |
168 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA364957443 rs1208173323 |
170 | S>N | No |
ClinGen TOPMed |
|
rs925359773 CA142950255 |
171 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs200248197 CA3920634 |
177 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3920633 rs367833034 |
177 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1562413531 CA364957351 |
178 | E>K | No |
ClinGen Ensembl |
|
rs1272781578 CA364957198 |
181 | R>G | No |
ClinGen gnomAD |
|
rs570458391 CA3920631 |
181 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 182 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364957176 rs1331410394 |
182 | Q>L | No |
ClinGen gnomAD |
|
CA142950206 rs909679519 |
184 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs376561662 CA3920620 |
190 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
CA3920619 rs151000241 |
190 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374319811 CA3920618 |
193 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765459662 CA3920617 |
194 | K>E | No |
ClinGen ExAC gnomAD |
|
CA3920616 rs761957092 |
194 | K>T | No |
ClinGen ExAC gnomAD |
|
CA142948947 rs748832646 |
196 | I>T | No |
ClinGen Ensembl |
|
rs144602788 CA3920615 |
196 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA142948942 rs747336938 |
203 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3920612 rs775989219 |
203 | H>R | No |
ClinGen ExAC gnomAD |
|
rs747336938 CA3920613 |
203 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3920611 rs772309903 |
204 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364956518 rs1562411719 |
206 | S>L | No |
ClinGen Ensembl |
|
rs371742400 CA3920609 |
206 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA364956507 rs1208880817 |
208 | T>I | No |
ClinGen gnomAD |
|
rs748748689 CA3920607 |
209 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1282104574 CA364956492 |
211 | Q>K | No |
ClinGen gnomAD |
|
rs777305881 CA3920606 |
212 | D>G | No |
ClinGen ExAC gnomAD |
|
rs755726697 CA3920605 |
213 | D>G | No |
ClinGen ExAC gnomAD |
|
rs752291099 CA3920604 |
214 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs112892732 CA364956461 |
215 | P>L | No |
ClinGen gnomAD |
|
CA142948849 rs112892732 |
215 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs767405762 CA364956463 |
215 | P>S | No |
ClinGen ExAC gnomAD |
|
rs767405762 CA3920603 |
215 | P>T | No |
ClinGen ExAC gnomAD |
|
rs567236275 CA3920601 |
217 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA364956442 rs1223406024 |
218 | F>L | No |
ClinGen TOPMed |
|
rs761994024 CA3920600 |
222 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3920599 rs761994024 |
222 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3920597 rs764072957 |
223 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761014012 CA3920596 |
225 | T>I | No |
ClinGen ExAC gnomAD |
|
CA364956396 rs776800982 COSM597796 |
226 | S>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs938339185 | 226 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776800982 CA3920595 |
226 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199520794 | 227 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 228 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs534795677 CA3920576 |
228 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs10502 CA142946922 |
229 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3920574 rs140328708 |
229 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs10502 VAR_019690 CA3920575 |
229 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372021590 CA3920573 |
234 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773572450 CA3920571 |
238 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs769390748 CA364956028 |
239 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1222148920 CA364956024 |
240 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs367896104 CA3920569 |
240 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1222148920 CA364956023 |
240 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA3920568 rs781000909 |
241 | T>A | No |
ClinGen ExAC |
|
CA3920567 rs768352070 |
241 | T>I | No |
ClinGen ExAC gnomAD |
|
rs781000909 CA364956018 |
241 | T>P | No |
ClinGen ExAC |
|
TCGA novel | 241 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364955986 rs1384148952 |
244 | V>I | No |
ClinGen gnomAD |
|
CA364955966 rs1365870879 |
246 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA3920563 rs144284760 |
248 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
rs148521060 CA142946842 |
249 | S>F | No |
ClinGen ESP TOPMed |
|
rs1442245272 CA364955926 |
250 | M>L | No |
ClinGen gnomAD |
|
CA3920562 rs778675688 |
250 | M>T | No |
ClinGen ExAC gnomAD |
|
CA3920561 rs756240479 |
252 | P>S | No |
ClinGen ExAC gnomAD |
|
CA3920560 rs145712020 |
253 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM1082456 rs1172005945 CA364955888 |
253 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA3920559 rs767731573 |
255 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs755262556 CA3920558 |
255 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM1312430 rs202016441 CA3920556 |
256 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs374040513 CA3920557 |
256 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763199768 CA3920555 |
257 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1051912921 CA142946787 |
259 | Q>H | No |
ClinGen Ensembl |
|
CA364955832 rs1197943849 |
259 | Q>K | No |
ClinGen gnomAD |
|
rs773803959 CA3920554 |
259 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765616172 CA3920553 |
264 | R>S | No |
ClinGen ExAC gnomAD |
|
CA3920552 rs761387891 |
265 | L>M | No |
ClinGen ExAC gnomAD |
|
CA142946771 rs1025339919 |
266 | S>P | No |
ClinGen TOPMed |
|
rs764981521 CA3920549 |
267 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364955737 rs1300995165 |
267 | T>I | No |
ClinGen gnomAD |
|
rs764981521 CA3920550 |
267 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775250029 CA3920548 |
268 | S>L | No |
ClinGen ExAC gnomAD |
|
CA3920545 rs768150991 |
270 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771932435 CA3920546 |
270 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 271 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA142946719 rs921726874 |
271 | V>I | No |
ClinGen Ensembl |
|
CA142946717 rs778923630 |
272 | I>L | No |
ClinGen ExAC gnomAD |
|
rs778923630 CA3920544 |
272 | I>V | No |
ClinGen ExAC gnomAD |
|
CA3920543 rs757076516 |
273 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3920542 rs749220298 |
274 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1582477285 CA364955657 |
275 | H>P | No |
ClinGen Ensembl |
|
rs138581028 CA3920541 |
275 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs149761290 CA3920539 |
277 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1030806714 CA142946668 |
279 | D>H | No |
ClinGen TOPMed |
|
rs766552187 CA3920538 |
280 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375067208 CA142946629 |
282 | T>A | No |
ClinGen Ensembl |
|
rs765625801 CA3920535 |
282 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364955564 rs1482390343 |
283 | D>V | No |
ClinGen gnomAD |
|
CA3920534 rs367798892 |
284 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3920533 rs367798892 |
284 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA364955488 rs1235299357 |
291 | I>V | No |
ClinGen gnomAD |
|
CA364955465 rs1350425806 |
293 | I>F | No |
ClinGen TOPMed gnomAD |
|
rs1350425806 CA364955468 |
293 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs376109676 CA3920532 |
295 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1240006135 CA364955422 |
296 | L>F | No |
ClinGen gnomAD |
|
rs775303768 CA3920530 |
299 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1400879372 CA364955363 |
300 | A>G | No |
ClinGen gnomAD |
|
rs1313047141 CA364955354 |
301 | L>F | No |
ClinGen gnomAD |
|
rs546702342 CA3920528 |
302 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA364955341 rs1436223459 |
302 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA3920527 rs147318737 |
304 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1470460404 CA364955296 |
305 | R>* | No |
ClinGen gnomAD |
|
TCGA novel | 305 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3920526 rs200082622 |
306 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1184071899 CA364955246 |
308 | L>V | No |
ClinGen gnomAD |
|
rs749275012 CA3920525 |
309 | A>G | No |
ClinGen ExAC gnomAD |
|
CA364955235 rs1422060436 |
309 | A>T | No |
ClinGen gnomAD |
|
CA3920522 rs759107261 |
311 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA3920523 rs759107261 |
311 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364955167 rs1582477168 |
312 | Y>* | No |
ClinGen Ensembl |
|
rs758611094 CA3920520 |
313 | I>M | No |
ClinGen ExAC gnomAD |
|
rs780341290 CA3920521 |
313 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364955144 rs1352008696 |
314 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs1262946245 CA364955127 |
315 | D>N | No |
ClinGen gnomAD |
|
CA364955052 rs1339321565 |
318 | L>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9Y385
5 regional properties for Q9Y385
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Dbl homology (DH) domain | 235 - 432 | IPR000219 |
domain | Pleckstrin homology domain | 472 - 573 | IPR001849 |
domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 39 - 86 | IPR002219 |
domain | ARHGEF2, PH domain | 470 - 585 | IPR037806 |
domain | ARHGEF1-like, PH domain | 463 - 570 | IPR041020 |
Functions
Description | ||
---|---|---|
EC Number | 2.3.2.23 | Aminoacyltransferases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
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. |
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. |
3 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ubiquitin conjugating enzyme activity | Isoenergetic transfer of ubiquitin from one protein to another via the reaction X-ubiquitin + Y -> Y-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue. |
ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
7 GO annotations of biological process
Name | Definition |
---|---|
negative regulation of retrograde protein transport, ER to cytosol | Any process that stops, prevents or reduces the frequency, rate or extent of retrograde protein transport, ER to cytosol. |
protein N-linked glycosylation via asparagine | The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification. |
protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
regulation of macrophage cytokine production | Any process that modulates the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
regulation of tumor necrosis factor production | Any process that modulates the frequency, rate or extent of tumor necrosis factor production. |
spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
12 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q16763 | UBE2S | Ubiquitin-conjugating enzyme E2 S | Homo sapiens (Human) | EV |
Q9NPD8 | UBE2T | Ubiquitin-conjugating enzyme E2 T | Homo sapiens (Human) | PR |
Q96LR5 | UBE2E2 | Ubiquitin-conjugating enzyme E2 E2 | Homo sapiens (Human) | PR |
Q969T4 | UBE2E3 | Ubiquitin-conjugating enzyme E2 E3 | Homo sapiens (Human) | PR |
Q9H8T0 | AKTIP | AKT-interacting protein | Homo sapiens (Human) | PR |
P61086 | UBE2K | Ubiquitin-conjugating enzyme E2 K | Homo sapiens (Human) | PR |
O00762 | UBE2C | Ubiquitin-conjugating enzyme E2 C | Homo sapiens (Human) | PR |
O14933 | UBE2L6 | Ubiquitin/ISG15-conjugating enzyme E2 L6 | Homo sapiens (Human) | PR |
Q7Z7E8 | UBE2Q1 | Ubiquitin-conjugating enzyme E2 Q1 | Homo sapiens (Human) | PR |
A1L167 | UBE2QL1 | Ubiquitin-conjugating enzyme E2Q-like protein 1 | Homo sapiens (Human) | PR |
Q9JJZ4 | Ube2j1 | Ubiquitin-conjugating enzyme E2 J1 | Mus musculus (Mouse) | PR |
Q9LSP7 | UBC32 | Ubiquitin-conjugating enzyme E2 32 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
METRYNLKSP | AVKRLMKEAA | ELKDPTDHYH | AQPLEDNLFE | WHFTVRGPPD | SDFDGGVYHG |
70 | 80 | 90 | 100 | 110 | 120 |
RIVLPPEYPM | KPPSIILLTA | NGRFEVGKKI | CLSISGHHPE | TWQPSWSIRT | ALLAIIGFMP |
130 | 140 | 150 | 160 | 170 | 180 |
TKGEGAIGSL | DYTPEERRAL | AKKSQDFCCE | GCGSAMKDVL | LPLKSGSDSS | QADQEAKELA |
190 | 200 | 210 | 220 | 230 | 240 |
RQISFKAEVN | SSGKTISESD | LNHSFSLTDL | QDDIPTTFQG | ATASTSYGLQ | NSSAASFHQP |
250 | 260 | 270 | 280 | 290 | 300 |
TQPVAKNTSM | SPRQRRAQQQ | SQRRLSTSPD | VIQGHQPRDN | HTDHGGSAVL | IVILTLALAA |
310 | |||||
LIFRRIYLAN | EYIFDFEL |