Q9UBT2
PR
Gene name |
UBA2 (SAE2, UBLE1B, HRIHFB2115) |
Protein name |
SUMO-activating enzyme subunit 2 |
Names |
Anthracycline-associated resistance ARX, Ubiquitin-like 1-activating enzyme E1B, Ubiquitin-like modifier-activating enzyme 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10054 |
EC number |
|
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
13 structures for Q9UBT2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1Y8Q | X-ray | 225 A | B/D | 1-640 | PDB |
| 1Y8R | X-ray | 275 A | B/E | 1-640 | PDB |
| 2PX9 | NMR | - | A | 166-382 | PDB |
| 3KYC | X-ray | 245 A | B | 1-640 | PDB |
| 3KYD | X-ray | 261 A | B | 1-549 | PDB |
| 4W5V | X-ray | 250 A | B | 445-561 | PDB |
| 5FQ2 | X-ray | 220 A | B | 446-547 | PDB |
| 6CWY | X-ray | 246 A | D | 1-640 | PDB |
| 6CWZ | X-ray | 310 A | D | 1-640 | PDB |
| 6XOG | X-ray | 198 A | B | 1-640 | PDB |
| 6XOH | X-ray | 223 A | B | 1-640 | PDB |
| 6XOI | X-ray | 200 A | B | 1-640 | PDB |
| AF-Q9UBT2-F1 | Predicted | AlphaFoldDB |
344 variants for Q9UBT2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2075210211 RCV001266032 |
1 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001258328 VAR_087611 RCV002265969 rs2075211884 |
24 | G>V | ACCES syndrome ACCES; loss of function; does not rescue the abnormal phenotype in a zebrafish disease model [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs2075242496 VAR_087612 RCV001258330 |
56 | N>T | ACCES [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000811068 RCV001823006 RCV002265890 rs1599889628 CA405254340 |
122 | R>* | UBA2-related disorder ACCES syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_087614 RCV002265968 RCV001257459 rs1599889628 |
122 | R>G | Ectrodactyly ACCES syndrome ACCES; loss of function; does not rescue the abnormal phenotype in a zebrafish disease model [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087613 | 122 | R>del | ACCES [UniProt] | Yes | UniProt |
|
RCV001255700 rs2075478466 |
267 | L>* | Chromosome 19q13.11 deletion syndrome, distal [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_087615 | 267 | L>del | ACCES [UniProt] | Yes | UniProt |
|
RCV002265822 rs1555729503 RCV000624788 |
273 | W>missing | ACCES syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_087616 RCV001258331 rs2075619600 RCV002265970 |
483 | E>K | ACCES syndrome ACCES; loss of function; does not rescue the abnormal phenotype in a zebrafish disease model [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1156254405 CA405253500 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA405253510 rs567960411 |
4 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9367888 rs567960411 |
4 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413236757 CA405253511 |
5 | R>W | No |
ClinGen gnomAD |
|
|
rs1356234028 CA405253519 |
6 | G>E | No |
ClinGen gnomAD |
|
|
rs1295315079 CA405253518 |
6 | G>W | No |
ClinGen gnomAD |
|
|
CA9367890 rs767396864 |
8 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405253534 rs1483327915 |
9 | R>Q | No |
ClinGen TOPMed |
|
|
CA9367892 rs759673886 |
10 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA307664438 rs979110681 |
11 | L>V | No |
ClinGen Ensembl |
|
|
CA405253553 rs1278432327 |
12 | A>V | No |
ClinGen gnomAD |
|
|
rs765510684 CA9367893 |
14 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758538550 CA9367895 |
17 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405253579 rs1334420128 |
17 | G>R | No |
ClinGen TOPMed |
|
|
CA9367896 rs764200638 |
18 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405253586 rs1411018772 |
18 | G>S | No |
ClinGen TOPMed |
|
|
RCV000627550 rs1555725969 |
20 | V>missing | No |
ClinVar dbSNP |
|
|
rs1470502868 CA405253601 |
21 | L>V | No |
ClinGen gnomAD |
|
|
CA9367898 rs757823032 |
22 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 29 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779774514 CA9367902 |
30 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405253722 rs1183678764 |
40 | G>S | No |
ClinGen TOPMed |
|
|
rs774051623 CA9367905 |
42 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772202584 CA9367907 |
43 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307664553 rs370032824 |
44 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA405253755 rs1599881448 |
45 | D>A | No |
ClinGen Ensembl |
|
|
CA405253759 rs1208563854 |
45 | D>E | No |
ClinGen TOPMed |
|
|
CA9367934 rs146650320 |
47 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 49 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 59 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307666479 rs867863691 |
62 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 68 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291014387 CA405254051 |
83 | F>L | No |
ClinGen gnomAD |
|
|
CA9367952 rs374404738 |
85 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405254062 rs1449352112 |
85 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761238714 CA9367955 |
90 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405254095 rs761238714 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9367957 rs777077347 |
91 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9367959 rs765737655 |
92 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA9367960 rs752376577 |
94 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9367962 rs763657983 |
97 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1233466487 CA405254171 |
99 | P>S | No |
ClinGen gnomAD |
|
|
CA405254177 rs1395492988 |
100 | D>N | No |
ClinGen TOPMed |
|
|
CA405254213 rs1456399277 |
105 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 106 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370848936 CA9367993 |
107 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA9367994 rs201872016 |
108 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61729883 CA307669293 |
108 | Q>R | No |
ClinGen Ensembl |
|
|
CA307669295 rs1049455879 |
111 | L>V | No |
ClinGen Ensembl |
|
|
rs1167651511 CA405254311 |
119 | R>G | No |
ClinGen gnomAD |
|
|
CA307670940 rs945719866 |
120 | A>G | No |
ClinGen TOPMed |
|
|
CA405254317 rs1599887612 |
120 | A>T | No |
ClinGen Ensembl |
|
|
rs781352231 CA9368019 |
121 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405254345 rs1433199821 |
123 | N>D | No |
ClinGen gnomAD |
|
|
CA405254371 rs1354999860 |
126 | N>S | No |
ClinGen gnomAD |
|
|
rs1168514272 CA405254431 |
135 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1299890497 CA405254439 |
136 | L>P | No |
ClinGen Ensembl |
|
|
CA405254446 rs1231564908 |
137 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205045527 CA405254522 |
149 | T>P | No |
ClinGen gnomAD |
|
|
CA9368022 rs780453380 |
150 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172795311 CA405254574 |
155 | V>M | No |
ClinGen gnomAD |
|
|
rs759582442 CA9368044 |
156 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1802474 CA307675537 |
161 | C>F | No |
ClinGen Ensembl |
|
|
rs1403066622 CA405254628 |
162 | H>R | No |
ClinGen gnomAD |
|
|
rs1338145844 CA405254637 |
163 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9368047 rs771665690 |
164 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279054820 CA405254650 |
165 | P>L | No |
ClinGen TOPMed |
|
|
rs373852960 CA9368050 |
167 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976926940 CA307675585 |
183 | I>V | No |
ClinGen TOPMed |
|
|
CA405254793 rs1454726448 |
187 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 190 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307675607 rs867706569 |
194 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 196 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307680429 rs201923928 |
197 | F>L | No |
ClinGen 1000Genomes |
|
|
CA405254892 rs1599903749 |
199 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866321010 CA307680443 |
202 | A>D | No |
ClinGen Ensembl |
|
|
CA405254921 rs1201763884 |
203 | D>N | No |
ClinGen gnomAD |
|
|
rs770620132 CA9368068 |
204 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770620132 CA307680445 |
204 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469733568 CA405254935 |
205 | E>K | No |
ClinGen gnomAD |
|
|
rs745402973 CA9368070 |
212 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs745402973 CA405254983 |
212 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA405255001 rs1425928561 |
214 | E>D | No |
ClinGen gnomAD |
|
|
CA405254995 rs1191303451 |
214 | E>K | No |
ClinGen gnomAD |
|
|
rs138127413 CA9368071 |
215 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138127413 CA405255006 |
215 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1207797961 CA405255008 |
216 | A>T | No |
ClinGen TOPMed |
|
|
rs775534336 CA9368072 |
217 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578055568 CA9368089 |
220 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405255057 rs1310609299 |
221 | E>G | No |
ClinGen gnomAD |
|
|
rs1279365801 CA405255061 |
222 | A>T | No |
ClinGen TOPMed |
|
|
rs1228862616 CA405255072 |
223 | E>D | No |
ClinGen gnomAD |
|
|
COSM187644 CA405255067 rs768723380 |
223 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9368091 rs768723380 |
223 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405255079 rs1346010308 |
224 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 227 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9368093 rs761692807 |
228 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780801172 CA307681547 |
232 | D>H | No |
ClinGen gnomAD |
|
|
CA9368095 rs776883509 |
235 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9368096 rs759726803 |
236 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 246 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 257 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | F>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764196256 CA405255514 |
263 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9368122 rs764196256 |
263 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9368124 rs762279906 |
266 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9368127 rs755738708 |
274 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs531406361 CA9368126 COSM994771 |
274 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1276327535 CA405255670 |
276 | R>G | No |
ClinGen gnomAD |
|
|
rs779877900 CA9368128 |
276 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA405255696 rs1220024310 |
278 | P>T | No |
ClinGen gnomAD |
|
|
rs1283887774 CA405255753 |
283 | D>E | No |
ClinGen TOPMed |
|
|
CA9368131 rs778617351 |
287 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562265070 CA9368166 |
292 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368142349 CA9368168 |
294 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773564267 CA9368167 |
294 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9368170 rs777203834 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA405255849 rs1440178304 |
296 | A>T | No |
ClinGen gnomAD |
|
|
rs113242502 CA9368172 |
296 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752209821 CA9368173 |
298 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs752209821 CA9368174 |
298 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9368175 rs763706669 |
298 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs752209821 CA405255860 |
298 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA307687038 rs1016724446 |
300 | Q>E | No |
ClinGen gnomAD |
|
|
CA9368176 rs751483555 |
300 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs757248676 CA9368177 |
301 | N>D | No |
ClinGen ExAC |
|
|
rs1159449750 CA405255882 |
301 | N>S | No |
ClinGen gnomAD |
|
|
CA9368178 rs375062800 |
303 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375062800 CA405255894 |
303 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148423918 CA9368179 |
304 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779037441 CA9368181 |
306 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1442100382 CA405255933 |
306 | G>V | No |
ClinGen gnomAD |
|
|
VAR_017689 rs1043062 CA307687085 |
307 | L>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1300862960 CA405255944 |
308 | K>E | No |
ClinGen TOPMed |
|
|
rs1379540319 CA405255977 |
310 | Q>R | No |
ClinGen gnomAD |
|
|
CA405256001 rs973874041 |
312 | V>I | No |
ClinGen gnomAD |
|
|
CA307687094 rs973874041 |
312 | V>L | No |
ClinGen gnomAD |
|
|
rs1342391559 CA405256037 |
315 | V>E | No |
ClinGen gnomAD |
|
|
rs748445837 CA9368182 |
315 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9368183 rs772024003 |
316 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1278693701 CA405256063 |
317 | S>N | No |
ClinGen gnomAD |
|
|
CA405256101 rs1176664885 |
320 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777968951 CA9368184 |
320 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405256097 rs1176664885 |
320 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405256106 rs1440101136 |
321 | L>V | No |
ClinGen gnomAD |
|
|
rs1192731772 CA405256115 |
322 | F>L | No |
ClinGen gnomAD |
|
|
CA405256155 rs1291288750 |
325 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA405256165 rs1464681383 |
326 | I>L | No |
ClinGen gnomAD |
|
|
CA9368185 rs367637106 |
326 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9368187 COSM994772 rs777085650 |
327 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA405256182 rs1480120862 |
327 | E>V | No |
ClinGen TOPMed |
|
|
rs1267074334 CA405256215 |
330 | R>K | No |
ClinGen TOPMed |
|
|
rs921080600 CA307687166 |
331 | V>I | No |
ClinGen Ensembl |
|
|
rs371323093 CA9368188 |
332 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770234024 CA9368189 |
333 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367685499 CA9368190 |
335 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1448026942 CA405256282 |
336 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA405256280 rs1448026942 |
336 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA307687223 rs954378965 |
337 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 338 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320644880 CA405256314 |
338 | D>V | No |
ClinGen TOPMed |
|
|
CA9368192 rs763503142 |
340 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767467878 CA9368195 |
343 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA307687254 rs200753160 |
343 | I>M | No |
ClinGen Ensembl |
|
|
CA9368196 rs750182047 |
343 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1259919668 CA405256383 |
344 | W>L | No |
ClinGen gnomAD |
|
|
rs758493188 CA9368218 |
347 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1425837132 CA405256523 |
348 | D>V | No |
ClinGen gnomAD |
|
|
CA9368219 rs764442002 |
349 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164679388 CA405256544 |
352 | M>V | No |
ClinGen gnomAD |
|
|
rs1367178802 CA405256577 |
356 | T>N | No |
ClinGen gnomAD |
|
|
rs1459774392 CA405256583 |
357 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405256632 rs1359523746 |
364 | H>R | No |
ClinGen gnomAD |
|
|
CA405256638 rs1397725284 |
365 | I>V | No |
ClinGen gnomAD |
|
|
rs757389922 CA9368221 |
367 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs577813535 CA9368222 |
370 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9368223 rs746352055 |
371 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1255024074 CA405256701 COSM710342 |
373 | R>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA405256728 rs1323360650 |
376 | I>V | No |
ClinGen gnomAD |
|
|
CA9368224 rs756644073 |
378 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA405256836 rs1381275409 |
382 | N>S | No |
ClinGen gnomAD |
|
|
rs139440257 CA9368241 |
387 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9368243 rs767634002 |
394 | I>M | No |
ClinGen ExAC gnomAD |
|
|
RCV001258329 rs2075536863 |
396 | G>R | No |
ClinVar dbSNP |
|
|
rs750527719 CA9368244 |
398 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1454373656 CA405257021 |
398 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs750527719 CA405257012 |
398 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405257158 rs1484549056 |
410 | I>T | No |
ClinGen gnomAD |
|
|
CA307689064 rs917064114 |
412 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766436639 | 418 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405257483 rs1599928217 |
421 | Q>H | No |
ClinGen Ensembl |
|
|
rs767871747 CA405257497 |
423 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 429 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 429 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251089918 CA405257558 |
432 | C>W | No |
ClinGen TOPMed |
|
|
rs199581746 CA307691874 |
436 | P>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9368268 rs750427035 |
436 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9368270 rs766421264 |
437 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754360341 CA405257595 |
439 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754360341 CA9368271 |
439 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9368272 rs144517203 |
440 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599928297 CA405257616 |
442 | Y>H | No |
ClinGen Ensembl |
|
|
rs1277587625 CA405257673 |
450 | V>M | No |
ClinGen gnomAD |
|
|
CA405257685 rs1284193774 |
452 | V>M | No |
ClinGen TOPMed |
|
|
rs557738756 CA9368277 |
453 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9368276 rs777514183 |
453 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405257703 rs1227103548 |
455 | N>S | No |
ClinGen TOPMed |
|
|
CA405257716 rs1303773127 |
457 | H>R | No |
ClinGen TOPMed |
|
|
RCV000627418 rs1555731122 |
460 | T>missing | No |
ClinVar dbSNP |
|
|
rs1179717349 CA405257741 |
461 | V>I | No |
ClinGen gnomAD |
|
|
rs1248129755 CA405257748 |
462 | L>V | No |
ClinGen gnomAD |
|
|
rs745729897 CA9368280 |
465 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs769863413 CA9368281 |
465 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA405257779 rs775373199 |
466 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405257802 CA9368301 rs371247982 |
468 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9368302 rs778056215 |
469 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA405257811 rs778056215 |
469 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA405257807 rs1423609430 |
469 | V>M | No |
ClinGen TOPMed |
|
|
rs1358790150 CA405257847 |
474 | A>V | No |
ClinGen gnomAD |
|
|
CA405257851 rs1319013331 |
475 | M>V | No |
ClinGen gnomAD |
|
|
CA405257865 rs1340455555 |
477 | A>T | No |
ClinGen gnomAD |
|
|
rs756864177 CA9368304 |
480 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9368305 rs780691089 |
481 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 484 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9368307 rs765778873 |
491 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9368306 rs745389280 |
491 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs995033875 CA307692673 |
492 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 494 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9368312 rs760888384 |
498 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1017611862 CA307637265 |
500 | A>G | No |
ClinGen Ensembl |
|
|
rs1017611862 CA405255322 |
500 | A>V | No |
ClinGen Ensembl |
|
|
CA405255326 rs1402899415 |
501 | N>T | No |
ClinGen gnomAD |
|
|
rs747919067 CA9368330 |
502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs201489973 CA307637271 |
504 | K>E | No |
ClinGen 1000Genomes |
|
| TCGA novel | 504 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9368331 rs771145691 |
504 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200950535 CA307637278 |
507 | S>P | No |
ClinGen 1000Genomes |
|
|
rs963985119 CA307637284 |
509 | F>L | No |
ClinGen Ensembl |
|
|
rs996247766 CA307637287 |
513 | N>D | No |
ClinGen TOPMed |
|
|
CA9368334 rs769858860 |
514 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373551149 COSM335474 CA9368336 |
516 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA405255428 rs1339846920 |
516 | R>W | No |
ClinGen gnomAD |
|
|
CA307637341 rs866860164 |
518 | Q>* | No |
ClinGen Ensembl |
|
|
rs774733807 CA9368338 |
520 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs774733807 CA405255480 |
520 | D>V | No |
ClinGen ExAC TOPMed |
|
|
CA9368339 rs762048921 |
525 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA405255579 rs1269658443 |
526 | Y>C | No |
ClinGen gnomAD |
|
|
rs1599934342 CA405255592 |
527 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 531 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9368340 rs768041032 |
532 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1169144624 CA405255684 |
533 | L>F | No |
ClinGen gnomAD |
|
|
CA9368358 rs773720762 |
537 | D>Y | No |
ClinGen ExAC |
|
|
CA9368359 rs760350191 |
540 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9368360 rs766152875 |
540 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs758939673 CA405256002 |
541 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369462476 CA9368363 |
542 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9368364 rs752571035 |
547 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA405256089 rs752571035 |
547 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA405256091 rs1353203903 |
548 | G>S | No |
ClinGen gnomAD |
|
|
rs45482396 CA9368366 |
551 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs45482396 CA9368367 |
551 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405256190 rs1166914349 |
554 | V>M | No |
ClinGen Ensembl |
|
|
rs1200377894 CA405256239 |
557 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA307639900 rs938919876 |
559 | A>T | No |
ClinGen TOPMed |
|
|
rs111714009 CA307639902 |
561 | D>G | No |
ClinGen Ensembl |
|
|
rs780215564 CA9368369 |
564 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9368370 rs749571435 |
564 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9368371 rs768602405 |
568 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779117901 CA9368372 |
571 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs748540736 CA9368373 |
575 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1568387687 CA405256472 |
576 | P>L | No |
ClinGen Ensembl |
|
|
rs1472167797 CA405256479 |
577 | S>F | No |
ClinGen TOPMed |
|
|
rs201934147 CA9368375 |
578 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs978408212 CA307639940 |
578 | T>P | No |
ClinGen TOPMed |
|
|
rs978408212 CA405256480 |
578 | T>S | No |
ClinGen TOPMed |
|
|
CA405256766 rs1283474760 |
583 | E>D | No |
ClinGen gnomAD |
|
|
CA9368400 rs371909636 |
583 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9368401 rs376182291 |
584 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9368403 rs762418287 |
587 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA307641945 rs145219113 |
587 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA9368404 rs763642096 |
588 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774257506 CA405256825 |
589 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs921025364 CA307641992 |
589 | I>R | No |
ClinGen TOPMed |
|
|
rs774257506 CA9368405 |
589 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1411481982 CA405256879 |
592 | S>A | No |
ClinGen gnomAD |
|
|
rs369166559 CA9368406 |
592 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755107690 CA9368409 |
594 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9368408 rs750246887 |
594 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 595 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765527310 CA9368410 |
597 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536680033 CA9368411 |
598 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9368412 rs78770631 |
599 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78770631 CA9368413 |
599 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747515595 CA9368414 |
600 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9368416 rs781359800 |
602 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9368418 COSM3771004 rs770090531 |
603 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1366666371 CA405257058 |
604 | S>G | No |
ClinGen TOPMed |
|
|
rs748996487 CA9368420 |
604 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA405257093 rs1260968686 |
606 | E>Q | No |
ClinGen gnomAD |
|
|
rs773857522 CA9368422 |
607 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9368423 rs761681945 |
608 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1405048948 CA405257148 |
609 | S>N | No |
ClinGen gnomAD |
|
|
rs1161918557 CA405257156 |
609 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9368424 rs767513822 |
610 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9368425 rs575391206 COSM293217 |
610 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA405257261 rs1433462422 |
617 | K>N | No |
ClinGen gnomAD |
|
|
rs1166894065 CA405257280 |
620 | L>F | No |
ClinGen TOPMed |
|
|
rs766139489 CA9368427 |
620 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA405257284 rs1378923091 |
621 | S>G | No |
ClinGen gnomAD |
|
|
rs1244159271 CA405257296 |
622 | A>V | No |
ClinGen gnomAD |
|
|
rs1002803514 CA307642173 |
626 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9368429 rs758763355 |
636 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201018793 CA307642191 |
636 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA405257402 rs1216392330 |
637 | I>M | No |
ClinGen gnomAD |
|
|
rs764209362 CA9368430 |
637 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236770397 CA405257406 |
638 | A>E | No |
ClinGen gnomAD |
|
|
CA405257405 rs1599942492 |
638 | A>S | No |
ClinGen Ensembl |
|
|
CA405257421 rs1255384774 |
640 | D>V | No |
ClinGen TOPMed |
No associated diseases with Q9UBT2
1 regional properties for Q9UBT2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphoribosyltransferase domain | 60 - 182 | IPR000836 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| SUMO activating enzyme complex | A conserved heterodimeric complex with SUMO activating enzyme activity. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| small protein activating enzyme binding | Binding to a small protein activating enzyme, such as ubiquitin-activating enzyme. |
| SUMO activating enzyme activity | Catalysis of the activation of the proteolytically processed small ubiquitin-related modifier SUMO, through the formation of an ATP-dependent high-energy thiolester bond. |
| SUMO binding | Binding to the small ubiquitin-like protein SUMO. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
| ubiquitin-like protein conjugating enzyme binding | Binding to a ubiquitin-like protein conjugating enzyme such as ubiquitin conjugating enzyme. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of protein sumoylation | Any process that activates or increases the frequency, rate or extent of the addition of SUMO groups to a protein. |
| protein modification by small protein conjugation | A protein modification process in which one or more groups of a small protein, such as ubiquitin or a ubiquitin-like protein, are covalently attached to a target protein. |
| protein sumoylation | The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxy-terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P22314 | UBA1 | Ubiquitin-like modifier-activating enzyme 1 | Homo sapiens (Human) | PR |
| Q8TBC4 | UBA3 | NEDD8-activating enzyme E1 catalytic subunit | Homo sapiens (Human) | PR |
| Q9Z1F9 | Uba2 | SUMO-activating enzyme subunit 2 | Mus musculus (Mouse) | PR |
| Q7SXG4 | uba2 | SUMO-activating enzyme subunit 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALSRGLPRE | LAEAVAGGRV | LVVGAGGIGC | ELLKNLVLTG | FSHIDLIDLD | TIDVSNLNRQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLFQKKHVGR | SKAQVAKESV | LQFYPKANIV | AYHDSIMNPD | YNVEFFRQFI | LVMNALDNRA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ARNHVNRMCL | AADVPLIESG | TAGYLGQVTT | IKKGVTECYE | CHPKPTQRTF | PGCTIRNTPS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPIHCIVWAK | YLFNQLFGEE | DADQEVSPDR | ADPEAAWEPT | EAEARARASN | EDGDIKRIST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KEWAKSTGYD | PVKLFTKLFK | DDIRYLLTMD | KLWRKRKPPV | PLDWAEVQSQ | GEETNASDQQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NEPQLGLKDQ | QVLDVKSYAR | LFSKSIETLR | VHLAEKGDGA | ELIWDKDDPS | AMDFVTSAAN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LRMHIFSMNM | KSRFDIKSMA | GNIIPAIATT | NAVIAGLIVL | EGLKILSGKI | DQCRTIFLNK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QPNPRKKLLV | PCALDPPNPN | CYVCASKPEV | TVRLNVHKVT | VLTLQDKIVK | EKFAMVAPDV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QIEDGKGTIL | ISSEEGETEA | NNHKKLSEFG | IRNGSRLQAD | DFLQDYTLLI | NILHSEDLGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DVEFEVVGDA | PEKVGPKQAE | DAAKSITNGS | DDGAQPSTST | AQEQDDVLIV | DSDEEDSSNN |
| 610 | 620 | 630 | |||
| ADVSEEERSR | KRKLDEKENL | SAKRSRIEQK | EELDDVIALD |