Q9NZ43
Gene name |
USE1 (USE1L, MDS032) |
Protein name |
Vesicle transport protein USE1 |
Names |
Putative MAPK-activating protein PM26, USE1-like protein, p31 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55850 |
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
1 structures for Q9NZ43
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NZ43-F1 | Predicted | AlphaFoldDB |
247 variants for Q9NZ43
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1453586667 CA404723098 |
2 | A>S | No |
ClinGen TOPMed |
|
|
rs1310060663 CA404723100 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1245211509 CA404723104 |
3 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404723131 rs1434789235 |
5 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404723137 rs371968820 |
5 | R>S | No |
ClinGen gnomAD |
|
|
rs746528926 CA9288948 |
6 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746528926 CA404723146 |
6 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404723152 rs1258483909 |
7 | E>K | No |
ClinGen gnomAD |
|
|
CA404723170 rs1181507260 |
8 | L>P | No |
ClinGen gnomAD |
|
|
rs1473854569 CA404723189 CA404723187 |
9 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs931086126 CA306073270 |
10 | L>V | No |
ClinGen TOPMed |
|
|
CA9288950 rs780809965 |
11 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9288952 rs770032377 |
14 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA306073280 rs866900872 |
14 | L>P | No |
ClinGen Ensembl |
|
|
rs982954543 CA306073292 |
15 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs982954543 CA306073284 |
15 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs982954543 CA404723238 |
15 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9288953 rs775944547 |
16 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs867902713 CA306073294 |
16 | R>S | No |
ClinGen gnomAD |
|
|
CA404723281 rs1288855161 |
19 | A>T | No |
ClinGen gnomAD |
|
|
rs769289561 CA9288955 |
19 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9288956 rs530342370 |
20 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1258038351 CA404723308 |
21 | A>S | No |
ClinGen gnomAD |
|
|
rs369914957 CA9288957 |
22 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA306073315 rs867247862 |
22 | A>V | No |
ClinGen gnomAD |
|
|
rs767768753 CA9288958 |
23 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1173453355 CA404723324 |
23 | E>K | No |
ClinGen TOPMed |
|
|
rs1484206735 CA404723339 |
24 | K>E | No |
ClinGen gnomAD |
|
|
rs867349560 CA306073320 |
25 | R>L | No |
ClinGen Ensembl |
|
|
CA306073319 rs931893731 |
25 | R>W | No |
ClinGen Ensembl |
|
|
CA9288960 rs761009949 |
26 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373033987 CA9288959 |
26 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA306073324 rs932674864 |
27 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA306073326 rs550089290 CA404723394 |
28 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA404723383 rs1466238386 |
28 | D>N | No |
ClinGen gnomAD |
|
|
CA404723386 rs1466238386 |
28 | D>Y | No |
ClinGen gnomAD |
|
|
rs1368499941 CA404723420 |
30 | W>S | No |
ClinGen gnomAD |
|
|
CA306073330 rs1043507161 |
31 | R>H | No |
ClinGen TOPMed |
|
|
CA404723449 rs1317174565 |
33 | E>D | No |
ClinGen TOPMed |
|
|
CA9288962 rs752571527 |
33 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762735105 CA9288963 |
34 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764034313 CA404723456 |
34 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404723475 rs1265701637 |
35 | Y>* | No |
ClinGen gnomAD |
|
|
CA404723477 rs1465814039 |
36 | V>M | No |
ClinGen gnomAD |
|
|
rs1183354350 CA404723486 |
37 | G>E | No |
ClinGen gnomAD |
|
|
CA404723485 rs1482174917 |
37 | G>R | No |
ClinGen gnomAD |
|
|
CA306073552 rs17850035 |
38 | A>D | No |
ClinGen gnomAD |
|
|
CA306073555 rs17850035 |
38 | A>V | No |
ClinGen gnomAD |
|
|
rs1414314879 CA404723505 |
40 | E>D | No |
ClinGen gnomAD |
|
|
CA404723507 rs529743191 |
41 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs529743191 CA9288986 |
41 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1175672099 CA404723517 |
42 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1450707447 CA404723526 |
43 | L>F | No |
ClinGen gnomAD |
|
|
CA9288987 rs766973453 |
43 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9288988 rs766973453 |
43 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303785779 CA404723529 |
44 | Q>* | No |
ClinGen gnomAD |
|
|
CA9288989 rs755663720 |
45 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9288990 rs550353809 |
46 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753499096 CA9288991 |
48 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1330639990 CA404723552 |
48 | V>I | No |
ClinGen gnomAD |
|
|
CA404723561 rs1310057560 |
49 | H>R | No |
ClinGen gnomAD |
|
|
CA9288993 rs779464879 |
50 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404723566 rs779464879 |
50 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303756637 CA404723599 |
53 | P>A | No |
ClinGen gnomAD |
|
|
CA404723602 rs767501711 |
53 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9289006 rs767501711 |
53 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404723603 rs1242671679 |
54 | A>T | No |
ClinGen TOPMed |
|
|
CA9289007 rs773077372 |
56 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404723633 rs1339758824 |
58 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404723632 rs1339758824 |
58 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9289008 rs760225078 |
59 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM992716 rs1287593162 CA404723642 |
60 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404723651 rs1453436374 |
61 | Y>H | No |
ClinGen gnomAD |
|
|
rs917350868 CA306073660 |
62 | S>F | No |
ClinGen TOPMed |
|
|
CA404723659 rs1214370030 |
62 | S>P | No |
ClinGen gnomAD |
|
|
rs753503613 CA9289010 |
63 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs754704380 CA9289011 |
64 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765661835 CA9289012 |
65 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758921219 CA9289014 |
73 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1413873717 CA404723743 |
74 | A>G | No |
ClinGen TOPMed |
|
|
CA9289017 COSM3285654 rs757329509 |
75 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404723745 rs757329509 |
75 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404723758 rs781179471 |
76 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA404723780 rs1230282973 |
78 | T>I | No |
ClinGen gnomAD |
|
|
CA404723802 rs1461424176 |
82 | E>Q | No |
ClinGen TOPMed |
|
|
rs1599438931 CA404723824 |
85 | L>V | No |
ClinGen Ensembl |
|
|
CA9289039 rs756243762 |
86 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404723891 rs1258720320 |
91 | A>V | No |
ClinGen gnomAD |
|
|
rs1441769191 CA404723918 |
94 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs568588586 CA9289040 |
94 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303436526 CA404723929 CA404723931 |
95 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1212962329 CA404723946 |
96 | P>R | No |
ClinGen TOPMed |
|
|
CA404723958 rs1465235111 |
97 | T>I | No |
ClinGen gnomAD |
|
|
CA306073721 rs767863073 |
100 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs746929033 CA9289044 |
101 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307399427 CA404724018 |
102 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404724034 rs1348548793 |
104 | P>S | No |
ClinGen gnomAD |
|
|
CA9289046 rs776227898 |
105 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775252175 CA404724082 |
108 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs775252175 CA9289050 |
108 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764471583 CA9289052 |
112 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs751872377 CA9289053 |
112 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289055 rs767997949 |
113 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289056 rs202069031 |
114 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404724148 rs1401582558 |
114 | R>W | No |
ClinGen TOPMed |
|
|
CA9289057 rs373164359 |
115 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404724177 rs1215155688 |
117 | Y>C | No |
ClinGen gnomAD |
|
|
rs1419328190 CA404724185 |
118 | T>N | No |
ClinGen TOPMed |
|
|
rs1167722910 CA404724220 |
120 | E>G | No |
ClinGen gnomAD |
|
|
rs950107502 CA306073750 |
120 | E>K | No |
ClinGen TOPMed |
|
|
CA9289060 rs755183433 |
121 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA404724241 rs1193042562 |
121 | M>K | No |
ClinGen TOPMed |
|
|
CA404724228 rs1463475672 |
121 | M>L | No |
ClinGen gnomAD |
|
|
CA404724251 rs1385120913 |
122 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9289061 rs777560986 |
122 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303741424 CA404724286 |
123 | S>R | No |
ClinGen gnomAD |
|
|
rs1371985009 CA404724335 |
126 | L>P | No |
ClinGen gnomAD |
|
|
rs1371985009 CA404724338 |
126 | L>R | No |
ClinGen gnomAD |
|
|
rs746795479 CA9289062 |
127 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289063 rs770820768 |
128 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006849955 CA306074376 |
130 | S>F | No |
ClinGen Ensembl |
|
|
rs748733005 CA9289085 |
130 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1438516047 CA404725824 |
133 | P>S | No |
ClinGen gnomAD |
|
|
rs747362750 CA9289109 |
134 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs922711774 CA306074900 |
134 | E>G | No |
ClinGen Ensembl |
|
|
rs1220908807 CA404725841 |
134 | E>Q | No |
ClinGen gnomAD |
|
|
CA404725880 rs1194435344 |
135 | M>I | No |
ClinGen gnomAD |
|
|
CA404725876 rs1469993619 |
135 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA306074910 rs201970716 |
136 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199750431 CA9289111 |
137 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1170187802 CA404726030 |
140 | R>S | No |
ClinGen gnomAD |
|
|
CA306074924 rs866085265 COSM3403912 |
141 | T>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9289146 rs375294030 |
142 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9289145 rs751164837 |
142 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451188885 CA404726919 |
143 | V>G | No |
ClinGen gnomAD |
|
|
rs1410492239 CA404726910 |
143 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9289147 rs781345842 |
144 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA404726953 rs1367269309 |
145 | G>E | No |
ClinGen TOPMed |
|
|
rs201210102 CA9289148 |
146 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs780675472 CA9289150 |
146 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs201210102 CA9289149 |
146 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA404727035 rs1599441097 |
149 | V>G | No |
ClinGen Ensembl |
|
|
rs1415251429 CA404727091 |
151 | E>D | No |
ClinGen gnomAD |
|
|
CA9289151 rs530644302 |
151 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9289152 rs530644302 |
151 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs955401687 CA306075367 |
153 | Q>H | No |
ClinGen Ensembl |
|
|
CA404727149 rs414528 |
154 | L>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9289153 rs414528 VAR_021052 |
154 | L>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs414528 CA404727165 |
154 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404727179 rs1486208281 |
155 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404727191 rs1183927807 |
155 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1241487334 CA404727206 |
156 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1599441138 CA404727235 |
159 | D>A | No |
ClinGen Ensembl |
|
|
rs201369767 CA9289157 |
161 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404727301 rs1485786640 |
162 | L>R | No |
ClinGen TOPMed |
|
|
rs1432927616 CA404727280 |
162 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404727310 rs1486286041 |
163 | Q>R | No |
ClinGen gnomAD |
|
|
CA9289159 rs369884711 |
164 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9289161 rs533252104 |
164 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9289160 rs533252104 |
164 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751074910 CA9289162 |
165 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs546281101 CA9289163 |
166 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404727372 rs1599441185 |
166 | Q>K | No |
ClinGen Ensembl |
|
|
CA306075395 rs966702326 |
166 | Q>R | No |
ClinGen TOPMed |
|
|
CA404727485 rs372800273 |
172 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1568309832 CA404727495 |
173 | A>P | No |
ClinGen Ensembl |
|
|
rs201641941 CA9289164 COSM992717 |
173 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9289166 rs756477777 |
174 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780587693 CA9289167 |
176 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749768029 CA9289168 |
177 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs907341352 CA306075437 |
178 | G>E | No |
ClinGen Ensembl |
|
|
CA306075436 rs960847220 |
178 | G>R | No |
ClinGen TOPMed |
|
|
rs755542705 CA9289169 |
180 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9289171 rs768523611 |
181 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289170 rs761697349 |
181 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433805996 CA404727649 |
182 | S>R | No |
ClinGen TOPMed |
|
|
CA404727703 rs1364579636 |
185 | T>I | No |
ClinGen TOPMed |
|
|
rs1306098536 CA404727736 |
186 | N>S | No |
ClinGen gnomAD |
|
|
CA306075447 rs767469086 |
190 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs78670441 CA9289173 |
191 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404727969 rs1467755606 |
193 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404727966 rs1167312960 |
193 | V>I | No |
ClinGen TOPMed |
|
|
rs1426256223 CA404727973 |
194 | I>F | No |
ClinGen TOPMed |
|
|
CA404728052 rs1191311304 |
197 | D>N | No |
ClinGen gnomAD |
|
|
CA404728111 rs1232843737 |
198 | N>I | No |
ClinGen gnomAD |
|
|
rs1254691347 CA404728123 |
199 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468797174 CA404728337 |
202 | S>P | No |
ClinGen gnomAD |
|
|
CA9289184 rs750042348 |
203 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9289185 rs755753561 |
203 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258148202 CA404728376 |
203 | H>R | No |
ClinGen TOPMed |
|
|
rs1460836916 CA404728485 |
207 | M>T | No |
ClinGen TOPMed |
|
|
rs754265072 CA9289187 |
207 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs755449439 CA9289188 |
208 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA306075682 rs141113430 |
209 | D>H | No |
ClinGen 1000Genomes |
|
|
CA306075685 rs866262671 |
210 | Q>* | No |
ClinGen Ensembl |
|
|
CA9289191 rs758485602 |
212 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306075700 rs15495 |
213 | E>D | No |
ClinGen Ensembl |
|
|
CA404728642 rs1568309969 |
213 | E>K | No |
ClinGen Ensembl |
|
|
COSM1391401 CA9289192 rs201057224 |
217 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA306075716 rs386807400 |
219 | S>R | No |
ClinGen Ensembl |
|
|
CA404728770 rs1568309988 |
220 | E>V | No |
ClinGen Ensembl |
|
|
rs771146695 CA9289194 |
221 | R>C | No |
ClinGen ExAC TOPMed |
|
|
COSM438884 CA9289195 rs189793505 |
221 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9289196 rs189793505 |
221 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768507747 CA9289197 |
223 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774321379 CA9289198 |
226 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404728881 rs1230912127 |
227 | Q>H | No |
ClinGen gnomAD |
|
|
CA306075773 rs1043941961 |
227 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs772601515 CA9289201 |
228 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9289202 rs200419019 |
228 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9289203 rs766112448 |
229 | S>P | No |
ClinGen ExAC |
|
|
rs753608737 CA9289204 |
231 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs759951373 CA9289205 |
232 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs765749646 CA9289207 |
236 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753203157 CA9289208 |
236 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404729011 rs1370220476 |
237 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404729006 rs1458457661 |
237 | M>T | No |
ClinGen TOPMed |
|
|
rs758864556 CA9289209 |
237 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404729020 rs1190145894 |
238 | L>H | No |
ClinGen gnomAD |
|
|
rs202081681 CA9289210 |
239 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404729032 rs1418734881 |
239 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404729027 rs202081681 |
239 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757389318 CA9289212 COSM992720 |
241 | V>I | endometrium Variant assessed as Somatic; 0.0001425 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781390296 CA9289213 |
243 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746134858 CA9289214 |
246 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1294615946 CA404729129 |
247 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528918393 CA404729146 |
248 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528918393 CA9289215 |
248 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9289216 rs778600202 |
250 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244618879 CA404729180 |
251 | F>C | No |
ClinGen TOPMed |
|
|
rs1244618879 CA404729179 |
251 | F>S | No |
ClinGen TOPMed |
|
|
CA9289217 rs748047333 |
253 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA306075868 rs201756687 |
253 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9289218 rs201756687 |
253 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404729229 rs1212862092 |
256 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760256187 CA9289220 |
256 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770604212 CA9289221 |
257 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404729250 rs1480332126 |
258 | L>F | No |
ClinGen gnomAD |
|
|
rs1175750706 CA404729270 |
259 | K>I | No |
ClinGen gnomAD |
|
|
rs1390674807 CA404729281 |
260 | K>L | No |
ClinGen TOPMed |
|
|
rs1568310107 CA920071248 |
260 | K>L | No |
ClinGen Ensembl |
No associated diseases with Q9NZ43
No regional properties for Q9NZ43
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NZ43 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| SNARE complex | A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| SNAP receptor activity | Acting as a marker to identify a membrane and interacting selectively with one or more SNAREs on another membrane to mediate membrane fusion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| lysosomal transport | The directed movement of substances into, out of or within a lysosome. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| 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. |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG. |
| secretion by cell | The controlled release of a substance by a cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAASRLELNL | VRLLSRCEAM | AAEKRDPDEW | RLEKYVGALE | DMLQALKVHA | SKPASEVINE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YSWKVDFLKG | MLQAEKLTSS | SEKALANQFL | APGRVPTTAR | ERVPATKTVH | LQSRARYTSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MRSELLGTDS | AEPEMDVRKR | TGVAGSQPVS | EKQLAAELDL | VLQRHQNLQE | KLAEEMLGLA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RSLKTNTLAA | QSVIKKDNQT | LSHSLKMADQ | NLEKLKTESE | RLEQHTQKSV | NWLLWAMLII |
| 250 | |||||
| VCFIFISMIL | FIRIMPKLK |