Q9UKD2
Gene name |
MRTO4 (C1orf33, MRT4) |
Protein name |
mRNA turnover protein 4 homolog |
Names |
Ribosome assembly factor MRTO4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51154 |
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
34 structures for Q9UKD2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FKR | EM | 289 A | SQ | 1-239 | PDB |
| 8FKS | EM | 288 A | SQ | 1-239 | PDB |
| 8FKT | EM | 281 A | SQ | 1-239 | PDB |
| 8FKU | EM | 282 A | SQ | 1-239 | PDB |
| 8FKV | EM | 247 A | SQ | 1-239 | PDB |
| 8FKW | EM | 250 A | SQ | 1-239 | PDB |
| 8FKX | EM | 259 A | SQ | 1-239 | PDB |
| 8FKY | EM | 267 A | SQ | 1-239 | PDB |
| 8FKZ | EM | 304 A | SQ | 1-239 | PDB |
| 8FL0 | EM | 291 A | SQ | 1-239 | PDB |
| 8FL2 | EM | 267 A | SQ | 1-239 | PDB |
| 8FL3 | EM | 253 A | SQ | 1-239 | PDB |
| 8FL4 | EM | 289 A | SQ | 1-239 | PDB |
| 8FL6 | EM | 262 A | SQ | 1-239 | PDB |
| 8FL7 | EM | 255 A | SQ | 1-239 | PDB |
| 8FL9 | EM | 275 A | SQ | 1-239 | PDB |
| 8FLA | EM | 263 A | SQ | 1-239 | PDB |
| 8FLB | EM | 255 A | SQ | 1-239 | PDB |
| 8FLC | EM | 276 A | SQ | 1-239 | PDB |
| 8FLD | EM | 258 A | SQ | 1-239 | PDB |
| 8FLE | EM | 248 A | SQ | 1-239 | PDB |
| 8FLF | EM | 265 A | SQ | 1-239 | PDB |
| 8IDT | EM | 280 A | J | 1-239 | PDB |
| 8IDY | EM | 300 A | J | 1-239 | PDB |
| 8IE3 | EM | 330 A | J | 1-239 | PDB |
| 8INE | EM | 320 A | J | 1-239 | PDB |
| 8INF | EM | 300 A | J | 1-239 | PDB |
| 8INK | EM | 320 A | v | 1-239 | PDB |
| 8IPD | EM | 320 A | v | 1-239 | PDB |
| 8IPX | EM | 430 A | v | 1-239 | PDB |
| 8IPY | EM | 320 A | v | 1-239 | PDB |
| 8IR1 | EM | 330 A | v | 1-239 | PDB |
| 8IR3 | EM | 350 A | v | 1-239 | PDB |
| AF-Q9UKD2-F1 | Predicted | AlphaFoldDB |
219 variants for Q9UKD2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA338776374 rs1160530911 |
2 | P>R | No |
ClinGen TOPMed |
|
|
CA338776382 rs1422332166 |
3 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779138446 CA338776393 |
5 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779138446 CA653110 |
5 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338776395 rs1391039766 |
5 | K>T | No |
ClinGen gnomAD |
|
|
CA18828216 rs979175180 |
7 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1447507876 CA338776416 |
7 | D>G | No |
ClinGen gnomAD |
|
|
CA338776413 rs916892028 |
7 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA18828205 rs916892028 |
7 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1380357457 CA338776447 |
8 | K>T | No |
ClinGen gnomAD |
|
|
CA653148 rs761677032 |
11 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374329034 CA653149 |
13 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA18829446 rs746457921 |
15 | T>I | No |
ClinGen Ensembl |
|
|
CA653151 rs762753214 |
16 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA338777373 rs750418059 |
16 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA653150 rs750418059 |
16 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338777381 rs762753214 |
16 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs368212058 CA18829459 |
17 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA653152 rs766494076 |
19 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779067703 CA18829464 |
22 | L>W | No |
ClinGen Ensembl |
|
|
rs1480058757 CA338777554 |
25 | N>K | No |
ClinGen gnomAD |
|
|
CA653153 rs751527839 |
25 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs755298774 CA653154 |
26 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1379327066 CA338777577 |
27 | I>M | No |
ClinGen gnomAD |
|
|
rs1394965112 CA338778162 |
30 | L>V | No |
ClinGen gnomAD |
|
|
CA653181 rs369921635 |
31 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369921635 CA653180 |
31 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA653179 rs201223173 |
31 | R>W | Variant assessed as Somatic; 0.0006007 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA338778179 rs1337023388 |
32 | K>E | No |
ClinGen gnomAD |
|
|
CA653182 rs780800623 |
33 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA338778222 rs1217104097 |
34 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA653183 rs747817190 |
37 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747817190 CA338778287 |
37 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141316973 CA653185 |
38 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA653186 rs749025613 |
39 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA338778315 rs1479611126 |
39 | Y>H | No |
ClinGen gnomAD |
|
|
rs201687442 CA18830050 |
40 | L>F | No |
ClinGen gnomAD |
|
|
rs201687442 CA338778326 |
40 | L>I | No |
ClinGen gnomAD |
|
|
rs1157333956 CA338778390 |
42 | I>S | No |
ClinGen TOPMed |
|
|
CA18830053 rs1028286295 |
42 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 43 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA653190 rs767594490 |
48 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs759481436 CA653189 |
48 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA653188 rs774128439 |
48 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs371062022 CA653191 |
51 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484618390 CA338778663 |
55 | D>G | No |
ClinGen gnomAD |
|
|
rs757528147 CA653195 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA653194 rs769660709 |
57 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551210514 CA338778761 |
59 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551210514 CA653197 |
59 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA653198 rs758917550 |
59 | A>V | No |
ClinGen ExAC |
|
|
rs1569597832 CA338778779 |
60 | W>* | No |
ClinGen Ensembl |
|
|
rs1258567835 CA338778783 |
60 | W>C | No |
ClinGen gnomAD |
|
|
CA338778797 rs1459036603 |
61 | K>N | No |
ClinGen gnomAD |
|
|
CA653200 rs747658479 |
62 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs375388657 CA653199 |
62 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA653202 rs138723852 |
64 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs563261309 CA653201 COSM901474 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs753458499 CA653221 |
65 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA338779147 rs1314016345 |
65 | M>T | No |
ClinGen gnomAD |
|
|
CA338779163 rs1195893828 |
66 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 70 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA653223 rs778636679 |
73 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA653222 rs756863283 |
73 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1050053534 CA18830429 |
74 | M>V | No |
ClinGen TOPMed |
|
|
rs745660047 CA653224 |
75 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1558122326 CA338779328 |
75 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA338779370 rs1342875575 |
76 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA653227 rs746907275 |
77 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338779396 rs1489869148 |
78 | G>D | No |
ClinGen gnomAD |
|
|
rs139632622 CA653229 |
79 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs137874394 CA653228 |
79 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA18830438 rs11542047 |
80 | S>I | No |
ClinGen Ensembl |
|
|
CA18830441 rs778546078 |
83 | D>H | No |
ClinGen Ensembl |
|
|
rs1479328776 CA338779507 |
85 | Y>H | No |
ClinGen gnomAD |
|
|
rs200319651 CA18830448 |
88 | N>K | No |
ClinGen 1000Genomes |
|
|
rs1044299901 CA18830445 |
88 | N>S | No |
ClinGen Ensembl |
|
|
CA338779589 rs1380128120 |
90 | H>Y | No |
ClinGen gnomAD |
|
|
CA338779619 rs773508998 |
91 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA338779616 rs1223102992 |
91 | Q>L | No |
ClinGen TOPMed |
|
|
rs771448710 CA653251 |
92 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244400261 CA338780178 |
93 | S>G | No |
ClinGen gnomAD |
|
|
rs774802300 CA653252 |
93 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs760184427 CA653253 |
93 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA653254 rs768051757 |
95 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA653255 rs753335630 |
96 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1241750912 CA338780227 |
97 | R>M | No |
ClinGen gnomAD |
|
|
CA653256 rs761353023 |
98 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186454375 CA338780244 |
99 | E>K | No |
ClinGen gnomAD |
|
|
COSM3930560 CA653257 rs764610980 |
100 | V>A | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1278680122 CA338780259 |
100 | V>L | No |
ClinGen TOPMed |
|
|
rs1473466891 CA338780274 |
101 | G>C | No |
ClinGen gnomAD |
|
|
rs375190321 CA653259 |
104 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766166805 CA653260 |
105 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA338780320 rs1395270865 |
106 | N>K | No |
ClinGen gnomAD |
|
|
CA653262 rs140930864 |
106 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781169715 CA338780323 |
107 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA653264 rs114437725 |
107 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114437725 CA338780324 |
107 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA653263 rs781169715 |
107 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756251022 CA653265 |
108 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA338780332 rs1558122535 |
109 | K>E | No |
ClinGen Ensembl |
|
|
rs1384283226 CA338780336 |
109 | K>N | No |
ClinGen TOPMed |
|
|
CA653267 rs749539725 |
109 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338780353 rs1254600737 |
111 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1344707001 CA338780358 |
112 | V>A | No |
ClinGen gnomAD |
|
|
CA338780361 rs1377742026 |
113 | N>D | No |
ClinGen gnomAD |
|
|
CA338780368 rs1256354677 |
114 | E>K | No |
ClinGen gnomAD |
|
|
CA653292 rs184192373 |
115 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772766675 CA653293 |
117 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1387920064 CA338780484 |
120 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 121 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338780502 rs1569601180 |
122 | M>V | No |
ClinGen Ensembl |
|
|
CA338780528 rs1239902326 |
124 | Y>D | No |
ClinGen gnomAD |
|
|
CA653298 rs756091401 |
125 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760719301 CA653301 |
126 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760719301 COSM216994 CA653300 |
126 | R>Q | liver urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754007838 CA653302 |
128 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757441207 CA653303 |
128 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA338780594 rs1159015683 |
130 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 130 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338780616 rs1254853567 |
132 | A>T | No |
ClinGen gnomAD |
|
|
rs1177788230 CA338780643 |
133 | F>L | No |
ClinGen gnomAD |
|
|
rs1569601304 CA338780631 |
133 | F>L | No |
ClinGen Ensembl |
|
|
rs1569601325 CA338780659 |
134 | T>I | No |
ClinGen Ensembl |
|
|
rs758482846 CA653306 |
136 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs758482846 CA653307 |
136 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA338780702 rs1455395038 |
137 | L>P | No |
ClinGen gnomAD |
|
|
CA653309 rs769202061 |
138 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA653310 rs781643335 |
140 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA653312 rs770453544 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA653311 rs186851379 |
141 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186851379 CA338780762 |
141 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA653314 rs759235950 |
145 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338780830 rs759235950 |
145 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338780855 rs1320959440 |
146 | P>L | No |
ClinGen TOPMed |
|
|
CA653319 rs760511737 |
147 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760511737 CA653317 |
147 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760511737 CA653318 |
147 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918402669 CA18830815 |
148 | S>C | No |
ClinGen TOPMed |
|
|
rs150086843 CA653320 |
150 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558244885 CA653321 |
152 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA653322 rs558244885 |
152 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA653324 rs777341550 |
156 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209649256 CA338781091 |
157 | G>S | No |
ClinGen TOPMed |
|
|
rs1252707109 CA338781143 |
158 | L>R | No |
ClinGen TOPMed |
|
|
CA338781186 rs1569601565 |
160 | T>P | No |
ClinGen Ensembl |
|
|
rs748671029 CA653328 COSM424899 |
161 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1424413099 CA338781234 |
162 | L>F | No |
ClinGen gnomAD |
|
|
CA18830840 rs199783929 |
162 | L>P | No |
ClinGen 1000Genomes |
|
|
CA653332 rs771793428 |
165 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1284181041 CA338781549 |
166 | V>A | No |
ClinGen gnomAD |
|
|
rs1213336995 CA338781543 |
166 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1428936348 CA338781575 |
167 | V>A | No |
ClinGen TOPMed |
|
|
CA653353 rs746662867 |
169 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA653356 rs747934332 |
173 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs139714257 CA653358 |
174 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA653359 rs762900630 |
177 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766384607 CA653361 |
177 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766384607 CA653360 |
177 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs759809381 CA653362 |
178 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA338781944 rs1318484134 |
180 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA338782059 rs1346876109 |
183 | T>I | No |
ClinGen gnomAD |
|
|
CA338782072 rs753113915 |
184 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753113915 CA653364 |
184 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278791844 CA338782096 |
185 | E>Q | No |
ClinGen TOPMed |
|
|
rs1292698255 CA338782192 |
187 | A>D | No |
ClinGen gnomAD |
|
|
CA338782185 rs1206484226 |
187 | A>T | No |
ClinGen TOPMed |
|
|
CA653365 rs756461838 |
188 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA338782213 rs756461838 |
188 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA653366 rs764483401 |
188 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338782216 rs764483401 |
188 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA653367 rs754307809 |
189 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs553525688 CA338782426 |
192 | L>H | No |
ClinGen 1000Genomes TOPMed |
|
|
CA18831190 rs553525688 |
192 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA18831186 rs373656332 |
192 | L>V | No |
ClinGen Ensembl |
|
|
rs1232352913 CA338782465 |
195 | Y>C | No |
ClinGen TOPMed |
|
|
rs752295280 CA653395 |
195 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA653397 rs200351822 |
196 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA653396 rs200351822 |
196 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA653398 rs749101180 |
198 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770809976 CA653399 |
200 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA653401 rs545850657 |
202 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772146307 CA653402 |
204 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA18831211 rs150343927 |
206 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA18831222 rs1001198351 |
207 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA653405 rs768920517 |
207 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA18831225 rs1017132707 |
209 | D>N | No |
ClinGen Ensembl |
|
|
CA18831228 rs564605284 |
212 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564605284 CA653406 |
212 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA653408 rs181723825 |
213 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750997503 CA653409 |
214 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338782786 CA653411 rs763485730 |
214 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197937743 CA338782800 |
215 | F>C | No |
ClinGen gnomAD |
|
|
CA18831249 rs200028582 |
216 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs752234709 CA653412 |
217 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs377289167 CA653413 |
217 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777446790 CA653414 |
218 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338782862 rs1257667468 |
219 | G>E | No |
ClinGen gnomAD |
|
|
CA653417 rs757079218 |
220 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753620362 CA653415 |
220 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs745822391 CA653418 |
221 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950844805 CA18831267 |
222 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 223 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143190389 CA653419 |
224 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA653420 rs780177305 |
225 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs146948534 CA653421 |
226 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA653422 rs768810763 |
227 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs369837947 CA338783023 |
229 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369837947 CA653423 |
229 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269446772 CA338783044 |
231 | E>A | No |
ClinGen TOPMed |
|
|
rs1398251265 CA338783053 |
232 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770287349 CA653425 |
235 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773651738 CA653426 CA18831288 |
236 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1374375671 CA338783147 |
237 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1198873971 CA338783141 |
237 | D>H | No |
ClinGen TOPMed |
|
|
CA653427 rs763611622 |
238 | D>G | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UKD2
1 regional properties for Q9UKD2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | 60S ribosomal protein L10P, insertion domain | 125 - 194 | IPR040637 |
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. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| preribosome, large subunit precursor | A preribosomal complex consisting of 27SA, 27SB, and/or 7S pre-rRNA, 5S rRNA, ribosomal proteins including late-associating large subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic large ribosomal subunit. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| nuclear-transcribed mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of nuclear-transcribed mRNAs in eukaryotic cells. |
| ribosomal large subunit assembly | The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the large ribosomal subunit. |
| ribosomal large subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9D0I8 | Mrto4 | mRNA turnover protein 4 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPKSKRDKKV | SLTKTAKKGL | ELKQNLIEEL | RKCVDTYKYL | FIFSVANMRN | SKLKDIRNAW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KHSRMFFGKN | KVMMVALGRS | PSDEYKDNLH | QVSKRLRGEV | GLLFTNRTKE | EVNEWFTKYT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EMDYARAGNK | AAFTVSLDPG | PLEQFPHSME | PQLRQLGLPT | ALKRGVVTLL | SDYEVCKEGD |
| 190 | 200 | 210 | 220 | 230 | |
| VLTPEQARVL | KLFGYEMAEF | KVTIKYMWDS | QSGRFQQMGD | DLPESASEST | EESDSEDDD |