Q9H7P6
Gene name |
MVB12B (C9orf28, FAM125B) |
Protein name |
Multivesicular body subunit 12B |
Names |
ESCRT-I complex subunit MVB12B, Protein FAM125B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:89853 |
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
2 structures for Q9H7P6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3TOW | X-ray | 134 A | A | 47-192 | PDB |
| AF-Q9H7P6-F1 | Predicted | AlphaFoldDB |
210 variants for Q9H7P6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1474523220 CA375157649 |
2 | R>G | No |
ClinGen TOPMed |
|
|
rs1255103184 CA375157658 |
3 | S>G | No |
ClinGen TOPMed |
|
|
rs757375558 CA5241862 |
3 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375157689 rs1468077554 |
7 | V>L | No |
ClinGen TOPMed |
|
|
CA375157710 rs1333470430 |
10 | S>I | No |
ClinGen gnomAD |
|
|
CA375157717 rs1438800750 |
11 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA200167288 rs966604473 |
12 | D>A | No |
ClinGen Ensembl |
|
|
CA375157721 rs966604473 |
12 | D>G | No |
ClinGen Ensembl |
|
|
CA375157718 rs1267086204 |
12 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1046914720 CA200167290 |
13 | P>R | No |
ClinGen TOPMed |
|
|
CA375157745 rs1196058568 |
16 | P>Q | No |
ClinGen gnomAD |
|
|
CA375157742 rs1487459164 |
16 | P>S | No |
ClinGen gnomAD |
|
|
rs1474884521 CA375157753 |
17 | Q>P | No |
ClinGen gnomAD |
|
|
rs1474884521 CA375157751 |
17 | Q>R | No |
ClinGen gnomAD |
|
|
CA200167291 rs928503847 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1162858066 CA375157758 |
18 | P>S | No |
ClinGen gnomAD |
|
|
CA375157784 rs1179050166 |
22 | P>L | No |
ClinGen TOPMed |
|
|
CA375157794 rs1481027544 |
24 | Q>R | No |
ClinGen TOPMed |
|
|
CA5241868 rs750581562 |
25 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1354286186 CA375157800 |
25 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA200168653 rs865867922 |
29 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375157984 rs775267564 |
37 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs775267564 CA5241879 |
37 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5241880 rs762592143 |
41 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1047398433 CA200168654 |
45 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs370526944 CA5241885 |
47 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5241886 rs750528154 |
49 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA200168655 rs981167020 |
51 | T>M | No |
ClinGen TOPMed |
|
|
rs754094585 CA5241889 |
52 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754094585 CA200168656 |
52 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5241892 rs371651537 |
54 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5241893 rs758869168 |
57 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1487674130 CA375158111 |
57 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769355896 CA5241896 |
59 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376223657 CA5241895 |
59 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779537062 CA5241897 |
60 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748995734 CA5241898 |
61 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5241899 rs768474662 |
63 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761769045 CA5241901 |
64 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772123143 CA5241902 |
65 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375158152 rs1200381628 |
65 | G>V | No |
ClinGen TOPMed |
|
|
CA5241903 rs773214805 |
66 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA375158156 rs773214805 |
66 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs766510440 CA5241905 |
68 | V>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375158168 rs766510440 |
68 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173371819 CA375158405 |
69 | V>I | No |
ClinGen gnomAD |
|
|
CA200172818 rs199545552 |
70 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5241933 rs753387548 |
72 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs538080040 CA200172819 |
74 | D>G | No |
ClinGen Ensembl |
|
|
rs1564299604 CA375158441 |
75 | G>S | No |
ClinGen Ensembl |
|
|
rs369827319 CA200172820 |
76 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA5241935 rs778641944 |
79 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA375158468 rs1220402815 |
79 | D>N | No |
ClinGen gnomAD |
|
|
CA375158506 rs1207883676 |
84 | G>S | No |
ClinGen gnomAD |
|
|
CA5241937 rs758218136 |
85 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1262576541 CA375158542 |
89 | K>R | No |
ClinGen gnomAD |
|
|
CA5241939 rs746817932 |
90 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA375158597 rs143952903 |
97 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5241941 rs143952903 |
97 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531823720 CA200172822 |
98 | R>T | No |
ClinGen gnomAD |
|
|
CA5241942 rs376328919 |
99 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA375158612 rs1490939928 |
100 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 101 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239244783 CA375158697 |
110 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1219015533 CA375158728 |
114 | M>I | No |
ClinGen gnomAD |
|
|
rs1351848910 CA375158723 |
114 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA200173390 rs7042337 |
117 | I>M | No |
ClinGen Ensembl |
|
|
CA5241964 rs768910687 |
117 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs749440278 CA5241963 |
117 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375158785 rs1258960214 |
122 | T>I | No |
ClinGen gnomAD |
|
|
rs1588129610 CA375158794 |
124 | P>H | No |
ClinGen Ensembl |
|
|
rs954591059 CA200173391 |
125 | V>L | No |
ClinGen gnomAD |
|
|
CA375158798 rs954591059 |
125 | V>M | No |
ClinGen gnomAD |
|
|
rs761241798 CA5241969 |
127 | F>Y | No |
ClinGen ExAC |
|
|
rs1366536187 CA375158821 |
128 | I>M | No |
ClinGen TOPMed |
|
|
rs1158805714 CA375158827 |
129 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5241971 rs142076731 |
130 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759410517 CA5241973 |
133 | T>M | Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5241974 rs751172053 |
134 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1378788881 CA375158869 |
136 | T>A | No |
ClinGen gnomAD |
|
|
rs757032890 CA5241975 |
137 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs757032890 CA375158875 |
137 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA375158933 rs1588134232 |
143 | K>R | No |
ClinGen Ensembl |
|
|
rs1588134237 CA375158959 |
147 | C>G | No |
ClinGen Ensembl |
|
|
CA5241991 rs751132994 |
148 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs763539920 CA5241990 |
148 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200173915 rs1046059 |
153 | R>L | No |
ClinGen ESP gnomAD |
|
|
rs1046059 CA375159001 |
153 | R>Q | No |
ClinGen ESP gnomAD |
|
|
CA375159000 rs1218578712 |
153 | R>W | No |
ClinGen gnomAD |
|
|
rs1160633436 CA375159006 |
154 | D>A | No |
ClinGen gnomAD |
|
|
CA5241992 rs762556242 |
156 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA375159041 rs1265205569 |
159 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 160 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5241995 rs755918627 |
163 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs9696000 CA5241996 |
164 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868665716 CA200173916 |
164 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1410440069 CA375159085 |
166 | M>T | No |
ClinGen gnomAD |
|
|
rs778835257 CA5241999 |
168 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5241998 rs755037370 |
168 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748298929 CA5242000 |
169 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5242001 rs758687675 |
170 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA375159107 rs758687675 |
170 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5242002 rs778196558 |
172 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5242003 rs747316940 |
173 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5242005 rs777234498 |
174 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1292132045 CA375159145 |
176 | Y>C | No |
ClinGen gnomAD |
|
|
CA5242006 rs746380516 |
176 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5242007 rs770377005 |
177 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5242009 rs761447220 |
178 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA375159162 rs1391738299 |
179 | I>V | No |
ClinGen TOPMed |
|
|
rs1481912764 CA375159348 |
183 | N>K | No |
ClinGen gnomAD |
|
|
rs372966231 CA200174271 |
184 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA5242031 rs766058718 |
188 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs146439908 CA5242032 |
189 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1460043 rs1254051514 CA375159395 |
190 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA375159397 rs565843409 |
190 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5242033 rs565843409 |
190 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5242035 rs752681926 |
191 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5242034 rs765025626 |
191 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs764287029 CA5242037 |
193 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA375159425 rs1218173612 |
195 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200174272 rs944299189 |
197 | N>K | No |
ClinGen Ensembl |
|
|
rs1313905405 CA375159440 |
197 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375159459 rs1173873310 |
200 | S>T | No |
ClinGen gnomAD |
|
|
CA5242039 rs757552035 |
201 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1287355434 CA375159478 |
203 | P>T | No |
ClinGen TOPMed |
|
|
rs750697603 CA5242041 |
205 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs141017138 CA200174273 |
205 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA200174274 rs992314382 |
206 | P>S | No |
ClinGen TOPMed |
|
|
rs1296155210 CA375159503 |
207 | S>F | No |
ClinGen TOPMed |
|
|
rs1226095209 CA375159533 |
212 | A>T | No |
ClinGen TOPMed |
|
|
rs918208813 CA200174275 |
214 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749819404 CA5242044 |
216 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769200378 CA5242045 |
216 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5242046 rs200109520 |
218 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375159577 rs200109520 |
218 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375159590 rs1400193932 |
219 | L>F | No |
ClinGen gnomAD |
|
|
CA5242048 rs374523885 |
221 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1297568643 CA375158189 |
222 | H>Y | No |
ClinGen TOPMed |
|
|
CA5242068 rs571157881 |
223 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs267602133 CA200177425 |
224 | S>F | No |
ClinGen TOPMed |
|
|
CA5242069 rs769378924 |
225 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768659812 CA5242072 |
232 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375158253 rs1490893027 |
233 | G>S | No |
ClinGen gnomAD |
|
|
CA5242073 rs774438553 |
233 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5242074 rs761762511 |
235 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs375748135 CA200177426 |
236 | S>N | No |
ClinGen ESP |
|
| TCGA novel | 236 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375158279 rs1477147176 |
237 | T>A | No |
ClinGen gnomAD |
|
|
CA375158285 rs1374009612 |
238 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767658868 CA5242075 |
238 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs144763623 CA5242076 |
239 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375158295 rs1246613225 |
240 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA200177427 rs1017712032 |
241 | Y>C | No |
ClinGen TOPMed |
|
|
CA375158308 rs1490977058 |
242 | E>Q | No |
ClinGen TOPMed |
|
|
CA375158334 rs1291158072 |
245 | H>Y | No |
ClinGen TOPMed |
|
|
rs1357992930 CA375158362 |
249 | Y>H | No |
ClinGen gnomAD |
|
|
rs1354609063 CA375158374 |
250 | A>G | No |
ClinGen TOPMed |
|
|
rs1282083425 CA375158378 |
251 | I>T | No |
ClinGen TOPMed |
|
|
rs754187798 CA5242079 |
251 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1701739 rs1215491682 CA375159194 |
254 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs376094935 CA5242110 |
254 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748974816 CA5242111 |
257 | V>L | No |
ClinGen ExAC |
|
|
CA5242113 rs778819852 |
260 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375159235 rs1178379740 |
260 | M>T | No |
ClinGen gnomAD |
|
|
rs1256409466 CA375159231 |
260 | M>V | No |
ClinGen TOPMed |
|
|
CA5242115 rs772034708 |
263 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370464876 CA5242139 |
272 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746940748 CA5242138 |
272 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375159607 rs1205634054 |
275 | F>V | No |
ClinGen gnomAD |
|
|
CA200184446 rs1007603235 |
276 | D>G | No |
ClinGen Ensembl |
|
|
rs775582985 CA5242143 |
280 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs1207064930 CA375159661 |
281 | T>P | No |
ClinGen TOPMed |
|
|
rs763339136 CA5242144 |
282 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268902363 CA375159679 |
283 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5242145 rs768929152 |
285 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5242147 rs762380210 |
286 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163803026 CA375159711 |
289 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA200186806 rs568988744 |
293 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA375160283 rs1281782939 |
293 | E>D | No |
ClinGen gnomAD |
|
|
rs568988744 CA200186805 |
293 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1285680556 CA375160292 |
294 | Y>C | No |
ClinGen gnomAD |
|
|
rs772651109 CA5242169 |
297 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772651109 CA200186807 |
297 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760736690 CA200186808 |
297 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1462526680 CA375160348 |
298 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA375160370 rs1195637299 |
300 | Q>* | No |
ClinGen TOPMed |
|
|
rs1244044886 CA375160376 |
300 | Q>H | No |
ClinGen gnomAD |
|
|
rs1337872176 CA375160396 COSM3432863 |
302 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA375160405 rs1175567748 |
303 | A>D | No |
ClinGen gnomAD |
|
|
rs759075392 CA375160413 |
304 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5242171 rs759075392 |
304 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762477987 CA5242174 |
308 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA375160465 rs1334819047 |
309 | S>G | No |
ClinGen gnomAD |
|
|
CA375160487 rs1281381731 |
310 | P>L | No |
ClinGen TOPMed |
|
|
rs987416431 CA200186811 |
311 | T>I | No |
ClinGen Ensembl |
|
|
rs1280815752 CA375160501 |
312 | R>G | No |
ClinGen gnomAD |
|
|
rs1373364905 CA375160519 |
313 | C>Y | No |
ClinGen gnomAD |
|
|
CA375160528 rs1218108054 |
314 | Q>* | No |
ClinGen gnomAD |
|
|
CA375160531 rs1459776483 |
314 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763869651 CA5242175 |
316 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778783906 CA200186812 |
317 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375160579 rs1257125115 |
318 | Q>K | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9H7P6
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| ESCRT I complex | An endosomal sorting complex required for transport. It consists of the class E vacuolar protein sorting (Vps) proteins and interacts with ubiquitinated cargoes. |
| 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. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipid binding | Binding to a lipid. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| membrane fission | A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes. |
| multivesicular body assembly | The aggregation, arrangement and bonding together of a set of components to form a multivesicular body, a type of late endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | The process of directing proteins towards the vacuole that contributes to protein catabolism via the multivesicular body (MVB) pathway. |
| regulation of epidermal growth factor receptor signaling pathway | Any process that modulates the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity. |
| ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the multivesicular body (MVB) sorting pathway; ubiquitin-tagged proteins are sorted into MVBs, and delivered to a lysosome/vacuole for degradation. |
| viral budding | A viral process by which enveloped viruses acquire a host-derived membrane enriched in viral proteins to form their external envelope. The process starts when nucleocapsids, assembled or in the process of being built, induce formation of a membrane curvature in the host plasma or organelle membrane and wrap up in the forming bud. The process ends when the bud is eventually pinched off by membrane scission to release the enveloped particle into the lumenal or extracellular space. |
| virus maturation | The refolding and structural rearrangements of virion parts to transition from the intermediate virion to the more mature virion. Maturation usually involves proteolysis events and changes in the folding of the virion proteins. Can occur inside the host cell or after release. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6KAU4 | Mvb12b | Multivesicular body subunit 12B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRSCFCVRRS | RDPPPPQPPP | PPPQRGTDQS | TMPEVKDLSE | ALPETSMDPI | TGVGVVASRN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RAPTGYDVVA | QTADGVDADL | WKDGLFKSKV | TRYLCFTRSF | SKENSHLGNV | LVDMKLIDIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DTLPVGFIPI | QETVDTQEVA | FRKKRLCIKF | IPRDSTEAAI | CDIRIMGRTK | QAPPQYTFIG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELNSMGIWYR | MGRVPRNHDS | SQPTTPSQSS | AASTPAPNLP | RHISLTLPAT | FRGRNSTRTD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YEYQHSNLYA | ISAMDGVPFM | ISEKFSCVPE | SMQPFDLLGI | TIKSLAEIEK | EYEYSFRTEQ |
| 310 | |||||
| SAAARLPPSP | TRCQQIPQS |