Q9UJV3
PR
Gene name |
MID2 (FXY2, RNF60, TRIM1) |
Protein name |
Probable E3 ubiquitin-protein ligase MID2 |
Names |
Midin-2, Midline defect 2, Midline-2, RING finger protein 60, RING-type E3 ubiquitin transferase MID2, Tripartite motif-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11043 |
EC number |
2.3.2.27: 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
4 structures for Q9UJV3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DJA | NMR | - | A | 182-252 | PDB |
| 2DMK | NMR | - | A | 394-537 | PDB |
| 7QRZ | X-ray | 157 A | A | 532-719 | PDB |
| AF-Q9UJV3-F1 | Predicted | AlphaFoldDB |
346 variants for Q9UJV3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000209907 CA211950 rs375785745 |
150 | A>S | Intellectual disability, X-linked 101 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs778859599 RCV000662211 CA10486007 |
164 | R>H | Intellectual disability, X-linked 101 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000133396 rs587777605 CA170511 VAR_071836 |
347 | R>Q | Intellectual disability, X-linked 101 XLID101; the mutant is abnormally localized in aggregates or enclosed in cytoplasmic vesicles rather than being bound to microtubules [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1602511836 RCV001009614 |
483 | S>missing | Intellectual disability, X-linked 101 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10486173 rs750972972 RCV000985072 |
520 | G>S | Intellectual disability, X-linked 101 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000984752 rs1602513371 CA413899567 |
586 | I>T | Esophageal atresia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001352687 rs1933190705 |
691 | F>missing | Intellectual disability, X-linked 101 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA333523000 rs990277396 |
2 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA413894487 rs1471644567 |
6 | A>G | No |
ClinGen gnomAD |
|
|
CA10485959 rs764552393 |
8 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002656644 CA413894530 |
13 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA333523006 rs1002656644 |
13 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1160969507 CA413894536 |
14 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757813612 CA10485961 |
15 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA10485960 rs752031166 COSM1112755 |
15 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs995127580 CA333523014 |
24 | L>M | No |
ClinGen Ensembl |
|
|
rs1407375667 CA413894600 |
25 | E>Q | No |
ClinGen gnomAD |
|
|
rs1297116384 CA413894608 |
26 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980563454 CA333523018 |
34 | L>V | No |
ClinGen TOPMed |
|
|
CA10485966 rs780010112 |
40 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1311955714 CA413894773 |
50 | C>R | No |
ClinGen gnomAD |
|
|
CA10485967 rs749461038 |
51 | F>S | No |
ClinGen ExAC |
|
|
CA413894819 rs1458358006 |
56 | R>C | No |
ClinGen TOPMed |
|
|
CA10485968 rs373511106 COSM1598718 |
56 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746848091 CA10485970 |
57 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777529546 CA10485969 |
57 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs144108832 CA10485971 |
59 | V>I | No |
ClinGen ESP ExAC |
|
|
CA413894869 rs1233554707 |
63 | S>G | No |
ClinGen gnomAD |
|
|
CA10485973 rs759408457 |
65 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1178855156 CA413894950 |
70 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1178855156 CA413894947 |
70 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10485974 rs769284673 |
71 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA413895045 rs1453567899 |
78 | T>I | No |
ClinGen gnomAD |
|
|
CA413895081 rs1396444614 |
81 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs144598021 CA10485976 |
83 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169090929 CA413895114 |
84 | S>L | No |
ClinGen gnomAD |
|
|
CA413895121 rs1443809350 |
85 | L>V | No |
ClinGen gnomAD |
|
|
rs375584547 CA413895159 |
88 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375584547 CA10485979 |
88 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754364027 CA10485978 |
88 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 89 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762224840 CA10485980 |
91 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1442017152 CA413895187 |
91 | D>G | No |
ClinGen gnomAD |
|
|
CA10485981 rs767792202 |
95 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274039286 CA413895271 |
98 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413895295 rs1602458473 |
101 | N>H | No |
ClinGen Ensembl |
|
|
rs965572589 CA333523039 |
103 | I>S | No |
ClinGen TOPMed |
|
|
CA413895349 rs1569462125 |
105 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413895351 COSM1464716 rs1460625771 |
105 | R>H | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA413895397 rs1200050028 |
109 | A>T | No |
ClinGen TOPMed |
|
|
rs1244838485 CA413895439 |
113 | G>R | No |
ClinGen gnomAD |
|
|
CA413895480 rs370437496 |
116 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370437496 CA10485984 |
116 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35716955 CA333523044 |
117 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413895503 rs1225888148 |
119 | E>K | No |
ClinGen TOPMed |
|
|
CA10485986 rs755162512 |
120 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779067600 CA10485987 |
121 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147886536 CA10485989 |
121 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147886536 CA10485990 |
121 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779067600 CA10485988 |
121 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775046574 CA10485993 |
122 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10485991 rs372849069 |
122 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA413895529 rs1394316507 |
124 | R>G | No |
ClinGen gnomAD |
|
|
rs377256081 CA10485996 |
131 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328565971 CA413895617 |
132 | M>I | No |
ClinGen gnomAD |
|
|
CA413895646 rs761567068 |
134 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767853875 CA10485998 |
135 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10485999 rs750817919 |
136 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1381849775 CA413895774 |
144 | Q>E | No |
ClinGen gnomAD |
|
|
CA413895786 rs1334015297 |
144 | Q>H | No |
ClinGen gnomAD |
|
|
CA10486001 rs766843799 |
146 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214217245 CA413895808 |
146 | P>S | No |
ClinGen gnomAD |
|
|
rs1192290177 CA413895823 |
147 | P>L | No |
ClinGen gnomAD |
|
|
CA10486003 rs755002841 |
148 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413895887 rs867788832 |
153 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333523065 rs867788832 |
153 | T>S | No |
ClinGen gnomAD |
|
|
rs752852478 CA10486004 |
154 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413895914 rs1230381690 |
155 | I>V | No |
ClinGen TOPMed |
|
|
CA413895957 rs1354135973 |
158 | E>G | No |
ClinGen TOPMed |
|
|
rs145397838 CA413896027 COSM1598714 |
164 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000995995 CA10486006 rs145397838 |
164 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 166 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151065224 CA333523072 |
167 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779811661 CA10486009 |
167 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs151065224 CA10486008 |
167 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10486010 rs141024135 |
169 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs891289787 CA333523077 |
172 | N>S | No |
ClinGen TOPMed |
|
|
rs1292953974 CA413896198 |
180 | R>C | No |
ClinGen gnomAD |
|
|
rs1292953974 CA413896197 COSM1555831 |
180 | R>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774002304 CA10486012 |
180 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368312397 CA413896249 |
185 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10486013 rs368312397 |
185 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473131182 CA413896285 |
188 | T>S | No |
ClinGen TOPMed |
|
|
rs773603465 CA413896310 |
190 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773603465 CA10486015 |
190 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs371167055 CA413896319 |
191 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA413896320 COSM1598713 rs1448332945 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1256436931 CA413896345 |
195 | C>Y | No |
ClinGen gnomAD |
|
|
rs1002781425 CA333523084 |
196 | L>Q | No |
ClinGen Ensembl |
|
|
CA333523086 rs1055583308 |
205 | M>L | No |
ClinGen Ensembl |
|
|
rs777067832 CA10486018 |
205 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA413896434 rs1207017605 |
207 | C>Y | No |
ClinGen TOPMed |
|
|
CA413896445 rs1449719759 |
209 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357792118 CA413896488 |
214 | I>M | No |
ClinGen TOPMed |
|
|
rs752834064 CA10486021 |
217 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000487998 rs751834460 CA10486024 |
223 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs755812805 CA10486025 |
223 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs780006573 CA10486026 |
225 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10486027 rs749167537 |
226 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA413896583 rs1333859554 |
229 | V>F | No |
ClinGen gnomAD |
|
|
rs1026584998 CA333523109 |
230 | A>S | No |
ClinGen TOPMed |
|
|
CA413896587 rs1026584998 COSM1331372 |
230 | A>T | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs182132222 CA10486029 |
232 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10486031 rs771723957 |
235 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA333524895 rs985676782 |
241 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235997853 CA413897743 |
244 | E>A | No |
ClinGen gnomAD |
|
|
CA10486046 rs754942941 |
248 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10486048 rs190213818 |
253 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200061253 RCV000500262 CA10486049 |
253 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1254056001 CA413897852 |
256 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746638121 CA10486051 |
259 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs781516899 CA10486053 |
263 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1169737281 CA413897945 |
263 | K>R | No |
ClinGen gnomAD |
|
|
rs1413592005 CA413898012 |
269 | Q>* | No |
ClinGen TOPMed |
|
|
rs765139133 CA10486065 |
273 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs758430344 CA10486067 |
276 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs752510124 CA10486066 |
276 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756752848 CA10486068 |
277 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879044221 CA413894949 |
278 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs879044221 CA333531560 |
278 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs751132909 CA10486069 |
280 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413895023 rs1415722978 |
282 | L>F | No |
ClinGen gnomAD |
|
|
CA10486070 rs756876721 |
283 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198383030 CA413895090 |
286 | C>S | No |
ClinGen TOPMed |
|
|
rs745538329 CA10486072 |
287 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780785768 CA10486071 |
287 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1036339320 CA333531566 |
288 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1036339320 CA413895123 |
288 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10486075 rs749752049 |
290 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413895230 rs1284836492 |
294 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 296 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352999987 CA413895325 |
299 | M>I | No |
ClinGen gnomAD |
|
|
CA413895311 rs1374928830 |
299 | M>V | No |
ClinGen TOPMed |
|
|
CA10486077 rs774271439 |
301 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413895347 rs774271439 |
301 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748277805 CA10486078 |
302 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214028985 CA413895395 |
304 | I>V | No |
ClinGen gnomAD |
|
|
CA413895571 rs755408036 |
309 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10486093 rs755408036 |
309 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs368996872 CA10486094 |
310 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175391795 CA413895596 |
311 | K>E | No |
ClinGen gnomAD |
|
|
rs1419450758 CA413895625 |
313 | R>G | No |
ClinGen gnomAD |
|
|
CA10486096 rs772212774 |
314 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1173922083 CA413895726 |
320 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3694175 rs747222924 CA10486098 |
323 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs140735708 CA333531751 |
323 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA413895795 rs1298096983 |
325 | C>R | No |
ClinGen gnomAD |
|
|
CA10486099 rs771235505 |
326 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333531756 rs993186566 |
328 | R>Q | No |
ClinGen TOPMed |
|
|
rs185574339 CA10486101 |
328 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1305826727 CA413895878 |
331 | V>A | No |
ClinGen gnomAD |
|
|
CA10486104 rs144599643 RCV000995996 |
331 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA413895974 rs1180233573 |
338 | H>D | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10486108 rs766094742 |
343 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA10486107 rs551253128 RCV000904913 VAR_071835 |
343 | N>S | the protein is normally bound to microtubules [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs933126575 CA333531764 |
345 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10486109 rs373155705 |
347 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1355577490 CA413896176 |
350 | Q>K | No |
ClinGen gnomAD |
|
|
CA413896200 rs1467675650 |
351 | S>C | No |
ClinGen gnomAD |
|
|
rs779150417 CA413896212 |
352 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs779150417 CA10486110 |
352 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10486111 rs748662001 |
354 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442174533 CA413896242 |
354 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10486112 rs138552159 |
356 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761722724 CA10486122 |
360 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10486123 rs779794899 |
361 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413897926 rs1430239146 |
367 | Q>E | No |
ClinGen gnomAD |
|
|
CA10486125 rs760190425 |
374 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs12849510 VAR_052123 CA10486126 |
378 | A>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10486127 rs12849510 |
378 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413898090 rs12849510 |
378 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10486128 rs759178820 |
382 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10486129 rs765621863 |
393 | L>P | No |
ClinGen ExAC |
|
|
rs753163322 CA10486130 |
397 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448631757 CA413898286 |
405 | P>A | No |
ClinGen gnomAD |
|
|
CA413898292 rs1285933918 |
406 | S>P | No |
ClinGen gnomAD |
|
|
CA10486138 rs781132104 |
407 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10486139 rs746094918 |
407 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769965035 COSM1598709 CA10486140 |
408 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778654636 CA10486141 |
409 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA333533389 rs747976072 |
411 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10486142 rs747976072 |
411 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333533391 rs943024939 |
413 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 417 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 422 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190201202 CA413898402 |
423 | W>* | No |
ClinGen gnomAD |
|
|
CA10486144 rs773084188 |
425 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1159521516 CA413898420 |
426 | D>N | No |
ClinGen gnomAD |
|
|
CA10486145 rs760542806 |
427 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10486146 rs370995243 |
432 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 434 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376081147 CA333533396 |
436 | L>F | No |
ClinGen ESP |
|
|
CA413898522 rs1336091913 |
440 | I>L | No |
ClinGen gnomAD |
|
|
rs1333916963 CA413898551 |
444 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs899883431 CA333533398 |
454 | S>N | No |
ClinGen TOPMed |
|
|
CA10486148 rs759205621 |
454 | S>R | No |
ClinGen ExAC |
|
|
CA413898645 rs765024636 |
456 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10486149 rs765024636 |
456 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10486151 rs763364423 |
457 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413898675 rs1434534762 |
461 | I>V | No |
ClinGen TOPMed |
|
|
rs764570839 CA10486152 |
468 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1330325743 CA413898748 |
471 | S>A | No |
ClinGen TOPMed |
|
|
CA413898751 rs1324023905 |
471 | S>L | No |
ClinGen TOPMed |
|
|
rs1406511255 CA413898752 |
472 | R>G | No |
ClinGen TOPMed |
|
|
CA333533406 rs199771473 |
474 | A>S | No |
ClinGen Ensembl |
|
|
rs145307560 CA10486154 |
475 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148012020 CA333533408 |
476 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10486155 rs781315834 |
476 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200917006 CA10486157 |
478 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200917006 CA413898786 |
478 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453020095 COSM1598707 CA413898787 |
478 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 481 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413898854 rs1292253312 |
486 | S>N | No |
ClinGen gnomAD |
|
|
CA10486167 rs374183811 |
492 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10486169 rs764552866 |
499 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1159762448 CA413898955 |
500 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 503 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413898979 rs1473519244 |
503 | L>P | No |
ClinGen TOPMed |
|
|
CA413899011 rs1322455426 |
508 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs866967372 CA333534119 |
508 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413899023 rs1435156178 |
510 | I>V | No |
ClinGen gnomAD |
|
|
CA413899044 rs1372553060 |
513 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA413899090 rs1478220783 |
519 | A>V | No |
ClinGen gnomAD |
|
|
rs187024671 CA333534123 |
521 | S>I | No |
ClinGen 1000Genomes |
|
|
CA10486174 rs756139554 |
522 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10486175 rs201957104 |
522 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413899105 rs756139554 |
522 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61752720 CA10486177 |
523 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA413899118 rs1315846245 |
524 | S>N | No |
ClinGen gnomAD |
|
|
rs1325338597 CA413899142 |
527 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746818060 CA10486179 |
528 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413899145 rs746818060 |
528 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319215221 CA413899150 |
529 | L>P | No |
ClinGen TOPMed |
|
|
rs757104854 CA10486180 |
532 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756941838 CA10486203 |
535 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181196421 CA413899228 COSM1151409 |
538 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA413899225 rs1485413153 |
538 | L>S | No |
ClinGen gnomAD |
|
|
rs999850672 CA333534328 |
540 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs999850672 CA413899237 |
540 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA413899246 rs1177272734 |
541 | K>R | No |
ClinGen TOPMed |
|
|
rs781042513 CA10486204 |
542 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413899286 rs1024024712 |
546 | K>N | No |
ClinGen TOPMed |
|
|
CA10486205 rs138637231 |
546 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10486206 rs201521734 |
549 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10486207 rs374970570 |
551 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749983502 CA10486212 |
554 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413899351 rs1381981495 |
556 | M>V | No |
ClinGen gnomAD |
|
|
rs1389980264 CA413899358 |
557 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761148298 CA10486214 |
560 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA413899399 rs1224349834 |
562 | S>A | No |
ClinGen TOPMed |
|
|
CA413899416 rs1284519635 |
565 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777152094 CA10486216 |
566 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413899445 rs1380173027 |
569 | P>T | No |
ClinGen gnomAD |
|
|
rs1347240420 CA413899487 |
574 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 576 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10486218 rs765369851 |
586 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10486219 rs752792139 |
587 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763299268 CA10486220 |
589 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA413899597 rs767199535 |
590 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750297026 CA10486222 |
591 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1176179640 CA413899609 |
592 | Y>F | No |
ClinGen gnomAD |
|
|
CA413899608 rs1176179640 |
592 | Y>S | No |
ClinGen gnomAD |
|
|
rs773508435 CA10486224 |
593 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754391185 CA10486226 |
596 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753851418 CA10486225 |
596 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1449555132 CA413899640 |
597 | M>V | No |
ClinGen gnomAD |
|
|
CA333534352 rs267606306 |
598 | G>D | No |
ClinGen Ensembl |
|
|
CA413899648 rs1301440175 |
598 | G>S | No |
ClinGen gnomAD |
|
|
CA413899664 rs1367186397 |
600 | S>L | No |
ClinGen gnomAD |
|
|
rs771305979 CA10486234 |
605 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10486235 rs777063733 |
607 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA413899742 rs1170589314 |
610 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 612 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001063708 rs1043455686 CA333534390 |
612 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs760038458 CA10486236 |
617 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA413899816 rs1467458531 |
620 | K>N | No |
ClinGen gnomAD |
|
|
CA413899826 rs1324326448 COSM1555825 |
622 | A>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA333534393 rs925794730 |
626 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10486238 rs775693104 |
629 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10486239 rs763059099 |
629 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191038276 CA413899883 |
631 | N>H | No |
ClinGen gnomAD |
|
|
CA333534397 rs139826911 |
635 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA413899946 rs1218092771 |
639 | N>S | No |
ClinGen gnomAD |
|
|
rs1461156177 CA413899979 |
643 | M>I | No |
ClinGen TOPMed |
|
|
CA413899989 rs1372913120 |
645 | V>M | No |
ClinGen TOPMed |
|
|
rs1277418925 CA413899996 |
646 | D>A | No |
ClinGen gnomAD |
|
|
rs1277418925 CA413899997 |
646 | D>G | No |
ClinGen gnomAD |
|
|
rs1171563102 CA413899993 |
646 | D>N | No |
ClinGen TOPMed |
|
|
rs764420491 CA10486240 |
650 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751865565 CA10486242 |
653 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10486241 rs751865565 COSM1490325 |
653 | R>G | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA333534401 rs894152778 |
653 | R>H | No |
ClinGen TOPMed |
|
|
CA413900050 rs1320945379 |
655 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 665 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 673 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 674 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413900185 rs1259676547 |
674 | L>R | No |
ClinGen TOPMed |
|
|
rs1203327743 CA413900197 |
676 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766292884 CA10486243 |
680 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1484570392 CA413900233 |
681 | V>A | No |
ClinGen gnomAD |
|
|
rs753762962 CA10486244 |
684 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1175677919 CA413900267 |
687 | V>I | No |
ClinGen gnomAD |
|
|
CA333534407 rs112778829 |
695 | N>I | No |
ClinGen Ensembl |
|
|
CA10486246 rs764639657 |
697 | S>A | No |
ClinGen ExAC |
|
| TCGA novel | 699 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 699 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403844892 CA413900369 |
702 | S>T | No |
ClinGen gnomAD |
|
|
CA10486247 rs752291571 |
705 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA413900400 rs1229258662 |
707 | P>A | No |
ClinGen TOPMed |
|
|
CA413900425 rs1163458112 |
710 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs145359982 CA333534413 |
713 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145359982 CA10486248 |
713 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10486250 RCV000502590 rs370198556 |
715 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144270984 CA10486249 COSM1464723 |
715 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752712773 CA10486251 |
720 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10486252 rs781600608 |
722 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746343761 CA10486253 |
725 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463791376 CA413900543 |
727 | Y>* | No |
ClinGen TOPMed |
|
|
rs1282413220 CA413900542 |
727 | Y>C | No |
ClinGen gnomAD |
|
|
rs1355368890 CA413900549 |
728 | V>A | No |
ClinGen gnomAD |
|
|
CA10486254 rs770377187 |
731 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA10486255 rs775405277 |
735 | H>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9UJV3
[MIM: 300928]: Intellectual developmental disorder, X-linked 101 (XLID101)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus. {ECO:0000269|PubMed:24115387}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus. {ECO:0000269|PubMed:24115387}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9UJV3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UJV3 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | 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 |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| identical protein binding | Binding to an identical protein or proteins. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| phosphoprotein binding | Binding to a phosphorylated protein. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| 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. |
| zinc ion binding | Binding to a zinc ion (Zn). |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of viral entry into host cell | Any process that stops, prevents, or reduces the frequency, rate or extent of the entry of viral entry into a host cell. |
| negative regulation of viral transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of viral transcription. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| protein localization to microtubule | A process in which a protein is transported to, or maintained at, a microtubule. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| suppression of viral release by host | A process in which a host organism stops, prevents or reduces the frequency, rate or extent of the release of a virus with which it is infected, from its cells. |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
| Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
| E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
| Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
| Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
| Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
| O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
| Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
| P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
| P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
| Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
| Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
| Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
| Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
| Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
| Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
| Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
| Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
| Q9NQ86 | TRIM36 | E3 ubiquitin-protein ligase TRIM36 | Homo sapiens (Human) | PR |
| Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
| Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
| Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
| Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
| Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
| Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
| Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
| Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
| Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
| Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
| Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
| P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
| O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
| O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
| Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
| Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
| Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
| A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
| Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
| D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
| F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGESPASVVL | NASGGLFSLK | METLESELTC | PICLELFEDP | LLLPCAHSLC | FSCAHRILVS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SCSSGESIEP | ITAFQCPTCR | YVISLNHRGL | DGLKRNVTLQ | NIIDRFQKAS | VSGPNSPSES |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRERTYRPTT | AMSSERIACQ | FCEQDPPRDA | VKTCITCEVS | YCDRCLRATH | PNKKPFTSHR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVEPVPDTHL | RGITCLDHEN | EKVNMYCVSD | DQLICALCKL | VGRHRDHQVA | SLNDRFEKLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QTLEMNLTNL | VKRNSELENQ | MAKLIQICQQ | VEVNTAMHEA | KLMEECDELV | EIIQQRKQMI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AVKIKETKVM | KLRKLAQQVA | NCRQCLERST | VLINQAEHIL | KENDQARFLQ | SAKNIAERVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MATASSQVLI | PDINFNDAFE | NFALDFSREK | KLLEGLDYLT | APNPPSIREE | LCTASHDTIT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VHWISDDEFS | ISSYELQYTI | FTGQANFISK | SWCSWGLWPE | IRKCKEAVSC | SRLAGAPRGL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YNSVDSWMIV | PNIKQNHYTV | HGLQSGTRYI | FIVKAINQAG | SRNSEPTRLK | TNSQPFKLDP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KMTHKKLKIS | NDGLQMEKDE | SSLKKSHTPE | RFSGTGCYGA | AGNIFIDSGC | HYWEVVMGSS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TWYAIGIAYK | SAPKNEWIGK | NASSWVFSRC | NSNFVVRHNN | KEMLVDVPPH | LKRLGVLLDY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DNNMLSFYDP | ANSLHLHTFD | VTFILPVCPT | FTIWNKSLMI | LSGLPAPDFI | DYPERQECNC |
| 730 | |||||
| RPQESPYVSG | MKTCH |