Q13571
Gene name |
LAPTM5 (KIAA0085) |
Protein name |
Lysosomal-associated transmembrane protein 5 |
Names |
Lysosomal-associated multitransmembrane protein 5, Retinoic acid-inducible E3 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7805 |
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 Q13571
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13571-F1 | Predicted | AlphaFoldDB |
217 variants for Q13571
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1325841150 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569882005 CA339541341 |
2 | D>A | No |
ClinGen Ensembl |
|
|
rs143486131 CA728228 |
4 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143486131 CA728229 |
4 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728226 rs146490774 |
4 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728227 rs146490774 |
4 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728225 rs773649946 |
6 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1046131062 CA20060290 |
7 | T>A | No |
ClinGen TOPMed |
|
|
CA339541207 rs1216505248 |
7 | T>I | No |
ClinGen TOPMed |
|
|
CA339541202 rs1326930027 |
8 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA20060284 rs1040836361 |
9 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA339541160 rs1040836361 |
9 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA728222 rs144278297 |
9 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728223 rs144278297 |
9 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557471094 CA339541100 |
11 | T>A | No |
ClinGen Ensembl |
|
|
CA339541074 rs1336914206 |
12 | C>R | No |
ClinGen gnomAD |
|
|
rs1413556881 CA339540991 |
14 | C>S | No |
ClinGen gnomAD |
|
|
rs746705065 CA728220 |
16 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA728218 rs373172801 |
18 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs188066738 CA728217 |
18 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373172801 CA728219 |
18 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA728215 rs369470045 COSM908109 |
20 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA728214 rs74977890 |
21 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728212 rs755216643 |
23 | A>T | Variant assessed as Somatic; 4.733e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA728211 rs147094889 |
26 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368013488 CA339540677 |
27 | Y>F | No |
ClinGen TOPMed |
|
|
rs766751707 CA728210 |
28 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307465026 CA339538358 |
31 | M>I | No |
ClinGen TOPMed |
|
|
CA728174 rs768788733 |
31 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1407141940 CA339538366 |
31 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339538334 rs747071350 |
32 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780272057 CA728169 |
33 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA728167 rs371661575 |
34 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293939048 CA339538118 |
37 | I>V | No |
ClinGen TOPMed |
|
|
rs772561163 CA728163 |
38 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267801217 CA339538091 |
39 | H>P | No |
ClinGen gnomAD |
|
|
rs755574951 CA728162 |
39 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs752182650 CA728161 |
40 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339538080 rs1230957913 |
41 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs759085137 CA728159 |
41 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339538056 rs1452863819 |
44 | A>T | No |
ClinGen TOPMed |
|
|
rs751279906 CA728158 |
44 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265835751 CA339538048 |
45 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA728157 rs766268584 |
48 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766268584 CA339538004 |
48 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762845113 CA728156 |
48 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339537976 rs1217926837 |
50 | C>R | No |
ClinGen gnomAD |
|
|
rs1364668987 CA339537894 CA339537892 |
55 | M>I | No |
ClinGen gnomAD |
|
|
CA728154 rs769873607 |
58 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386616033 CA339537806 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA339537489 rs1201274300 |
64 | I>V | No |
ClinGen gnomAD |
|
|
rs1352054810 CA339537479 |
65 | S>A | No |
ClinGen gnomAD |
|
|
CA728118 rs144849255 |
66 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339537352 rs1268029326 |
70 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746540217 CA728117 |
70 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339537259 rs1458619741 |
72 | M>T | No |
ClinGen TOPMed |
|
|
rs758091551 CA728115 |
75 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA20050478 rs956358136 |
76 | I>N | No |
ClinGen Ensembl |
|
|
rs1389190178 CA339537141 |
77 | S>T | No |
ClinGen TOPMed |
|
|
CA339537107 rs1181877780 |
79 | S>N | No |
ClinGen gnomAD |
|
|
rs1210975246 CA339537053 |
83 | G>A | No |
ClinGen gnomAD |
|
|
CA728110 rs764117825 |
83 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1210975246 CA339537050 |
83 | G>D | No |
ClinGen gnomAD |
|
|
CA339537055 rs764117825 |
83 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777435891 CA728106 |
84 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA728107 rs183822203 COSM908107 |
84 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1436630470 CA339536367 |
87 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs547749928 CA339536353 |
88 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA728085 COSM1256320 rs547749928 |
88 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA728086 rs765518717 |
88 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339536316 rs1569857936 |
91 | Y>S | No |
ClinGen Ensembl |
|
|
CA20049031 rs946606797 |
93 | L>M | No |
ClinGen Ensembl |
|
|
CA20049030 rs893753079 |
93 | L>R | No |
ClinGen Ensembl |
|
|
rs768949774 CA728083 |
95 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247492999 CA339536263 |
97 | S>T | No |
ClinGen gnomAD |
|
|
CA728081 rs776147713 |
99 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs778393608 CA728078 |
105 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA339536200 rs1301088136 |
106 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs35787459 CA20048947 |
107 | L>M | No |
ClinGen Ensembl |
|
|
CA728076 rs748945466 |
108 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA339536191 rs748945466 |
108 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1569857810 CA339536186 |
109 | T>P | No |
ClinGen Ensembl |
|
|
rs534967531 CA20048941 |
112 | G>A | No |
ClinGen 1000Genomes |
|
|
rs534967531 CA20048936 |
112 | G>D | No |
ClinGen 1000Genomes |
|
|
CA728074 rs557747360 |
112 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA728072 rs781116816 |
113 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs752561925 CA728073 |
113 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA728071 rs758422746 |
114 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs750546368 CA339536155 |
115 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765271074 CA728069 |
115 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750546368 CA728070 |
115 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA728068 rs762072505 |
116 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754076563 CA728067 |
118 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA728064 rs139678458 |
119 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145636949 CA728063 |
119 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728061 rs773891848 |
121 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339536113 rs1445544515 |
122 | K>R | No |
ClinGen TOPMed |
|
|
CA339536114 rs1445544515 |
122 | K>T | No |
ClinGen TOPMed |
|
|
rs770409083 CA728060 |
123 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA339536091 rs549310638 |
126 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141499795 CA728058 |
126 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728059 rs549310638 |
126 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA728057 rs769516896 |
127 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA339536083 rs1284382849 |
127 | S>R | No |
ClinGen TOPMed |
|
|
rs747955844 CA728056 |
128 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781067463 CA728055 |
128 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339536037 rs1481835714 |
133 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339536022 rs1359535138 |
135 | P>L | No |
ClinGen gnomAD |
|
|
CA728029 rs34101571 |
135 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1392006173 CA339536010 |
137 | M>I | No |
ClinGen gnomAD |
|
|
CA728027 rs200810512 |
138 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253423170 CA339535990 |
140 | Q>L | No |
ClinGen TOPMed |
|
|
rs1183249235 CA339535977 |
143 | D>N | No |
ClinGen gnomAD |
|
|
CA20048244 rs370272502 |
144 | F>C | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 147 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227748785 CA339535924 |
150 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350113042 CA339535903 |
153 | S>I | No |
ClinGen TOPMed |
|
|
CA20048235 rs756171596 |
153 | S>R | No |
ClinGen Ensembl |
|
|
rs1350113042 CA339535904 |
153 | S>T | No |
ClinGen TOPMed |
|
|
rs867345460 CA20048218 |
154 | S>F | No |
ClinGen Ensembl |
|
|
rs1224748061 CA339535896 |
155 | Y>H | No |
ClinGen TOPMed |
|
|
rs1379569040 CA339535884 |
156 | M>T | No |
ClinGen gnomAD |
|
|
CA339535887 rs1396859658 |
156 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA728023 rs752782257 |
158 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327856381 CA339535864 |
159 | P>S | No |
ClinGen TOPMed |
|
|
CA339535853 rs1372327761 |
161 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339535813 COSM534681 rs1460990190 |
166 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1389311570 CA339535807 |
167 | M>T | No |
ClinGen TOPMed |
|
|
CA728022 rs764774321 |
167 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1298507257 CA339535793 |
169 | H>D | No |
ClinGen TOPMed |
|
|
CA339535514 rs1381551671 |
172 | Y>H | No |
ClinGen gnomAD |
|
|
rs1569854737 CA339535511 |
172 | Y>S | No |
ClinGen Ensembl |
|
|
rs1392868891 CA339535492 |
174 | P>S | No |
ClinGen gnomAD |
|
|
rs1396965217 CA339535478 |
175 | S>G | No |
ClinGen gnomAD |
|
|
rs1355357152 CA339535463 |
176 | Q>R | No |
ClinGen TOPMed |
|
|
CA20047292 rs369299830 |
177 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA20047284 rs866914981 |
178 | D>N | No |
ClinGen Ensembl |
|
|
CA339535428 rs1468140474 |
179 | M>I | No |
ClinGen gnomAD |
|
|
CA20047276 rs200376170 |
179 | M>R | No |
ClinGen gnomAD |
|
|
CA339535430 rs200376170 |
179 | M>T | No |
ClinGen gnomAD |
|
|
CA339535433 rs1244901743 |
179 | M>V | No |
ClinGen TOPMed |
|
|
rs372654193 CA728007 |
180 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375995678 CA728008 |
180 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758807421 CA728006 |
182 | N>K | No |
ClinGen ExAC gnomAD |
|
|
COSM185204 CA728005 rs772801469 |
187 | M>I | upper_aerodigestive_tract large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA728004 rs764721370 |
190 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339535263 rs1333875769 |
192 | S>F | No |
ClinGen gnomAD |
|
|
rs993589876 CA20047200 |
194 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1323432579 CA339535228 |
195 | F>S | No |
ClinGen gnomAD |
|
|
rs546482766 CA20047194 |
196 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1412064516 CA339535162 |
199 | L>R | No |
ClinGen TOPMed |
|
|
CA728002 rs776216936 |
200 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11541206 CA728000 |
202 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs763687921 CA728001 |
202 | K>T | No |
ClinGen ExAC |
|
|
rs764594879 CA727977 |
205 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339499019 CA339556018 |
208 | C>G | No |
ClinGen gnomAD |
|
|
CA339556017 rs1269159729 |
208 | C>Y | No |
ClinGen gnomAD |
|
|
CA339556010 rs1342583320 |
209 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1342583320 CA339556012 |
209 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs138163595 CA727974 |
211 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335245110 CA339555996 |
211 | R>W | No |
ClinGen gnomAD |
|
|
rs772379976 CA727972 |
213 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339555971 rs746263342 |
215 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727970 rs374608139 |
219 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339555940 COSM1687313 rs1418897920 |
219 | M>V | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs761225896 CA727969 |
221 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA727966 rs755659020 |
222 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs370275111 CA727967 |
222 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20104334 rs987344783 |
223 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1207221287 CA339555909 |
224 | E>K | No |
ClinGen gnomAD |
|
|
rs35351292 VAR_053653 CA727964 |
226 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA20104331 rs35351292 |
226 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1569852087 CA339555884 |
227 | N>T | No |
ClinGen Ensembl |
|
|
rs1293600918 CA339555878 |
228 | S>A | No |
ClinGen gnomAD |
|
|
CA727962 rs759360466 |
229 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766323570 CA727960 |
230 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs751366621 CA727961 |
230 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762969146 CA727959 |
231 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773264858 CA727958 |
232 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1269701689 CA339555286 |
236 | L>P | No |
ClinGen gnomAD |
|
|
CA727935 rs147666160 |
237 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339555283 rs767643820 |
237 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727936 rs767643820 |
237 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221466956 CA339555274 |
238 | S>A | No |
ClinGen gnomAD |
|
|
CA20103059 rs932823511 |
238 | S>Y | No |
ClinGen Ensembl |
|
|
rs1429888789 CA339555255 |
239 | Y>C | No |
ClinGen TOPMed |
|
|
rs145384305 COSM426057 CA727931 |
240 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA727930 COSM3943861 rs770301183 |
241 | E>G | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1289725853 CA339555207 |
242 | A>G | No |
ClinGen gnomAD |
|
|
CA20103046 rs779644407 |
242 | A>T | No |
ClinGen Ensembl |
|
|
rs781309185 CA727929 |
247 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780833255 CA727928 |
247 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781309185 CA20103039 |
247 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113336710 CA727927 |
249 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339555105 rs1452092284 |
250 | P>A | No |
ClinGen gnomAD |
|
|
CA727926 rs746591610 |
250 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA339555066 rs1021393675 |
251 | E>D | No |
ClinGen TOPMed |
|
|
CA727925 rs779865690 |
252 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339555044 rs1240744096 |
253 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280318604 CA339555022 |
255 | A>P | No |
ClinGen gnomAD |
|
|
rs1280318604 CA339555025 |
255 | A>T | No |
ClinGen gnomAD |
|
|
CA20103000 rs374167496 |
255 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750201690 CA727923 |
257 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339554997 rs1344424614 |
257 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1344424614 CA339555000 |
257 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768410389 CA727922 |
258 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20102967 rs371021746 |
259 | Y>N | No |
ClinGen ESP TOPMed |
|
|
rs767520995 CA727919 |
262 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339554851 rs535029927 |
263 | V>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA727918 rs535029927 |
263 | V>W | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q13571
No regional properties for Q13571
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q13571 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of plasma membrane | The component of the plasma 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| transport vesicle | Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein sequestering activity | Binding to a protein to prevent it from interacting with other partners or to inhibit its localization to the area of the cell or complex where it is active. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| ubiquitin-dependent protein binding | Binding to a protein upon ubiquitination of the target protein. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| defense response to tumor cell | Reactions triggered in response to the presence of a tumor cell that act to protect the cell or organism. |
| Golgi to lysosome transport | The directed movement of substances from the Golgi to lysosomes. |
| induction of programmed cell death | A process which directly activates any of the steps required for programmed cell death. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| negative regulation of autophagic cell death | Any process that stops, prevents or reduces the frequency, rate or extent of autophagic cell death. |
| negative regulation of B cell activation | Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. |
| negative regulation of interferon-gamma production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| negative regulation of interleukin-2 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-2 production. |
| negative regulation of T cell activation | Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. |
| negative regulation of T cell receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
| positive regulation of cytokine production involved in immune response | Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. |
| positive regulation of interleukin-12 production | Any process that activates or increases the frequency, rate, or extent of interleukin-12 production. |
| positive regulation of lysosomal membrane permeability | Any process that increases the frequency, rate or extent of the passage or uptake of molecules by the lysosomal membrane. |
| positive regulation of macrophage cytokine production | Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of NIK/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of receptor catabolic process | Any process that activates or increases the frequency, rate or extent of receptor catabolic process. |
| positive regulation of tumor necrosis factor-mediated signaling pathway | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor-mediated signaling pathway. |
| positive regulation of ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process. |
| protein targeting to lysosome | The process of directing proteins towards the lysosome using signals contained within the protein. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDPRLSTVRQ | TCCCFNVRIA | TTALAIYHVI | MSVLLFIEHS | VEVAHGKASC | KLSQMGYLRI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ADLISSFLLI | TMLFIISLSL | LIGVVKNREK | YLLPFLSLQI | MDYLLCLLTL | LGSYIELPAY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKLASRSRAS | SSKFPLMTLQ | LLDFCLSILT | LCSSYMEVPT | YLNFKSMNHM | NYLPSQEDMP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HNQFIKMMII | FSIAFITVLI | FKVYMFKCVW | RCYRLIKCMN | SVEEKRNSKM | LQKVVLPSYE |
| 250 | 260 | ||||
| EALSLPSKTP | EGGPAPPPYS | EV |