Q5M7Z0
PR
Gene name |
RNFT1 (PTD016) |
Protein name |
E3 ubiquitin-protein ligase RNFT1 |
Names |
Protein PTD016, RING finger and transmembrane domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51136 |
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 Q5M7Z0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5M7Z0-F1 | Predicted | AlphaFoldDB |
318 variants for Q5M7Z0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs754999301 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292167342 rs796077019 |
2 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1359510949 CA400441003 |
2 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs796077019 CA400441006 |
2 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200050289 CA8683440 |
4 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400440992 rs762600936 |
4 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683437 rs750167733 |
8 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs758664977 CA8683438 |
8 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1201705236 CA400440963 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA400440958 rs750110481 |
10 | T>I | No |
ClinGen gnomAD |
|
|
CA292167321 rs750110481 |
10 | T>R | No |
ClinGen gnomAD |
|
|
CA8683436 rs765045697 |
11 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1285537510 CA400440940 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs1444210344 CA400440933 |
15 | S>P | No |
ClinGen TOPMed |
|
|
rs764154452 CA8683433 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400440928 rs764154452 |
16 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683432 rs760103344 |
16 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1405031718 CA400440917 |
17 | H>Q | No |
ClinGen gnomAD |
|
|
CA400440912 rs1339397578 |
18 | E>G | No |
ClinGen gnomAD |
|
|
CA8683431 rs775184436 |
19 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs775184436 CA400440906 |
19 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA8683420 rs533421595 |
20 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400440452 rs1486316993 |
21 | Q>R | No |
ClinGen TOPMed |
|
|
CA400440440 rs1193386245 |
22 | R>T | No |
ClinGen TOPMed |
|
|
CA8683419 rs750651147 |
24 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778713054 CA8683418 |
27 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA400440360 rs1479012824 |
28 | S>C | No |
ClinGen TOPMed |
|
|
rs756990650 CA8683417 |
29 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA400440310 rs1168584076 |
32 | K>R | No |
ClinGen gnomAD |
|
|
CA8683415 rs564335135 |
34 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400440228 rs1170346394 |
38 | M>V | No |
ClinGen TOPMed |
|
|
rs368407775 CA8683413 |
40 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8683412 rs376215881 |
41 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376215881 CA400440181 |
41 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480020529 CA400440170 |
42 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1480020529 CA400440172 |
42 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752208915 CA8683411 |
42 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs1206016807 CA400440144 |
44 | Q>* | No |
ClinGen gnomAD |
|
|
CA400440130 rs1458468810 |
45 | L>P | No |
ClinGen gnomAD |
|
|
CA8683409 rs142393490 |
46 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683406 rs762048699 |
48 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282641870 CA400440103 |
49 | P>L | No |
ClinGen TOPMed |
|
|
rs1231140351 CA400440106 |
49 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 53 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868796726 CA292164113 |
57 | A>T | No |
ClinGen Ensembl |
|
|
rs768994695 CA8683404 |
59 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910862562 CA292164111 |
59 | T>N | No |
ClinGen TOPMed |
|
|
CA8683403 rs747544806 |
60 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780040800 CA8683402 |
61 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA400439941 rs1355281106 |
62 | C>R | No |
ClinGen gnomAD |
|
|
CA8683401 rs772154437 |
62 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1477154765 CA400439908 |
64 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8683398 rs757540470 |
69 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400439844 rs757540470 |
69 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683399 rs778998844 |
69 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749019062 CA8683397 |
70 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561995422 CA400439803 |
72 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561995422 CA8683396 |
72 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8683395 rs756082554 |
73 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292164075 rs952428753 |
74 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752693194 CA8683394 |
74 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157937026 CA400439727 |
78 | D>H | No |
ClinGen TOPMed |
|
|
rs1358596989 CA400439723 |
78 | D>V | No |
ClinGen TOPMed |
|
|
CA8683392 rs748211939 |
81 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751116466 CA8683391 |
82 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400439664 rs1390279753 |
82 | Q>H | No |
ClinGen TOPMed |
|
|
rs1598867100 CA400439654 |
83 | I>K | No |
ClinGen Ensembl |
|
|
CA292164050 rs749112766 |
85 | S>A | No |
ClinGen Ensembl |
|
|
rs765926024 CA8683390 |
85 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762689295 CA8683389 |
86 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1351224052 CA400439565 |
89 | E>A | No |
ClinGen gnomAD |
|
|
rs1393188992 CA400439571 |
89 | E>Q | No |
ClinGen gnomAD |
|
|
rs1351224052 CA400439563 |
89 | E>V | No |
ClinGen gnomAD |
|
|
CA8683388 rs776820480 |
90 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367692163 CA400439541 |
91 | A>T | No |
ClinGen gnomAD |
|
|
CA400439532 rs1164161052 |
91 | A>V | No |
ClinGen gnomAD |
|
|
CA292164013 rs200661534 |
95 | S>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8683386 rs761115438 |
97 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772635440 CA400439426 |
99 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772635440 CA8683384 |
99 | I>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8683385 rs775964365 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307667887 CA400439407 |
102 | G>D | No |
ClinGen TOPMed |
|
|
rs201932517 CA292164005 |
102 | G>S | No |
ClinGen 1000Genomes |
|
|
CA292164004 rs544648803 |
104 | H>Y | No |
ClinGen gnomAD |
|
|
rs1196667792 CA400439387 |
105 | S>T | No |
ClinGen gnomAD |
|
|
rs1319301853 CA400439381 |
106 | C>R | No |
ClinGen TOPMed |
|
|
CA292163994 rs199530443 |
108 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199530443 CA8683382 |
108 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8683383 rs745916710 |
108 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA292163991 rs200452189 |
112 | H>R | No |
ClinGen 1000Genomes |
|
|
CA8683379 rs777366933 |
113 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1487717712 CA400439331 |
113 | S>R | No |
ClinGen TOPMed |
|
|
CA292163983 rs781691875 |
114 | R>C | No |
ClinGen Ensembl |
|
|
CA8683378 rs755957295 |
114 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs376278427 CA8683374 |
116 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8683375 rs61752305 |
116 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683373 rs765945008 |
119 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400439278 rs1420875776 |
122 | E>G | No |
ClinGen TOPMed |
|
|
rs757920434 CA8683372 |
124 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1383341543 CA400439223 |
130 | A>V | No |
ClinGen gnomAD |
|
|
CA8683370 rs764930051 |
131 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8683369 rs373282555 |
133 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775874180 CA8683368 |
133 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149985376 CA400439188 |
136 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149985376 CA8683366 |
136 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429523526 CA400439189 |
136 | H>Y | No |
ClinGen gnomAD |
|
|
rs906127932 CA292163935 |
137 | G>D | No |
ClinGen TOPMed |
|
|
rs1375627575 CA400439169 |
138 | S>R | No |
ClinGen TOPMed |
|
|
rs1312663232 CA400439146 |
142 | S>P | No |
ClinGen TOPMed |
|
|
CA8683364 rs147639974 |
145 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs749416565 CA8683363 |
145 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749416565 CA400439122 |
145 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139462395 CA8683361 |
146 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139462395 CA8683362 |
146 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400439107 rs1464382089 |
148 | F>L | No |
ClinGen gnomAD |
|
|
rs781156171 CA400439056 |
154 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8683359 rs781156171 |
154 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA400439035 rs1275660024 |
156 | P>L | No |
ClinGen gnomAD |
|
|
rs376198298 CA8683357 |
162 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683356 rs376198298 |
162 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683355 rs146036461 |
163 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749969685 CA8683354 |
166 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778507419 CA8683353 |
167 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs756952609 CA8683352 |
168 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683351 rs753015687 |
169 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA400438841 rs1374471317 |
170 | I>M | No |
ClinGen gnomAD |
|
|
CA8683350 rs192496107 |
170 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1166942732 CA400438852 |
170 | I>V | No |
ClinGen gnomAD |
|
|
CA8683348 rs752123845 |
171 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373016769 CA8683349 |
171 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1363698745 CA400438706 |
178 | G>R | No |
ClinGen TOPMed |
|
|
CA8683331 rs745362088 |
178 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778417580 CA8683330 |
179 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1300072589 CA400438664 |
182 | T>A | No |
ClinGen TOPMed |
|
|
CA8683327 rs369251713 |
184 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1212876275 CA400438634 |
184 | M>T | No |
ClinGen TOPMed |
|
|
CA400438624 rs1206216387 |
185 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8683326 rs781480128 |
188 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs755360113 CA8683325 |
189 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112835092 CA8683323 |
190 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683322 rs112835092 |
190 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683321 rs369549123 |
191 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439361012 CA400438516 |
193 | Q>H | No |
ClinGen gnomAD |
|
|
rs762067640 CA8683319 |
195 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930974401 CA292163669 |
197 | R>I | No |
ClinGen TOPMed |
|
|
CA400438495 rs930974401 |
197 | R>K | No |
ClinGen TOPMed |
|
|
CA8683308 rs745840803 |
198 | E>G | No |
ClinGen ExAC |
|
|
rs1452006324 CA400438463 |
198 | E>Q | No |
ClinGen TOPMed |
|
|
CA400438449 rs1181698649 |
200 | S>P | No |
ClinGen TOPMed |
|
|
CA292162601 rs1036324867 |
202 | K>N | No |
ClinGen TOPMed |
|
|
rs1473609822 CA400438429 |
203 | I>F | No |
ClinGen TOPMed |
|
|
CA8683307 rs773788066 |
204 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA400438409 rs1343200946 |
206 | A>T | No |
ClinGen gnomAD |
|
|
CA8683306 rs770443593 |
206 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777370580 CA8683304 |
207 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683305 rs748857449 |
207 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs747344879 CA8683302 |
209 | L>R | No |
ClinGen ExAC |
|
|
rs563223522 CA8683303 |
209 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400438361 rs1412625707 |
213 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 215 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750980793 CA8683299 |
215 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs918528897 CA292162553 |
217 | V>I | No |
ClinGen gnomAD |
|
|
rs918528897 CA400438343 |
217 | V>L | No |
ClinGen gnomAD |
|
|
CA292162508 rs1046902363 |
218 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs765900698 CA8683297 |
219 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs757406435 CA8683296 |
220 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA400438291 rs1320851494 |
224 | H>Q | No |
ClinGen gnomAD |
|
|
rs1229861589 CA400438282 |
226 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs915720891 CA292162449 |
227 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1307024670 CA400438275 |
227 | S>T | No |
ClinGen TOPMed |
|
|
rs188842766 CA8683290 |
228 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1370678363 CA400438047 |
233 | I>T | No |
ClinGen gnomAD |
|
|
rs1417989907 CA400438034 |
235 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1278546261 CA400438030 |
235 | L>F | No |
ClinGen Ensembl |
|
|
rs748931984 CA292161699 |
236 | N>S | No |
ClinGen gnomAD |
|
|
CA8683270 rs756296066 |
237 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683269 rs375346435 |
238 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683267 rs759325052 |
241 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8683265 rs766253181 COSM1679979 |
243 | S>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1487608284 COSM1679979 CA400437982 |
243 | S>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA400437975 rs1201747604 |
244 | F>L | No |
ClinGen TOPMed |
|
|
CA8683264 rs762904326 |
245 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs772708702 CA8683263 |
247 | V>I | No |
ClinGen ExAC |
|
|
rs571226737 CA8683262 |
250 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1230336574 CA400437929 |
250 | I>V | No |
ClinGen gnomAD |
|
|
CA8683261 rs761445008 |
251 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146256947 CA8683259 |
254 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146256947 CA8683258 |
254 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683256 rs771526006 |
255 | D>E | No |
ClinGen ExAC |
|
|
rs779444337 CA8683257 |
255 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs777855381 CA8683254 |
260 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs141254111 CA400437813 |
262 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410441205 CA400437817 |
262 | F>S | No |
ClinGen gnomAD |
|
|
CA8683252 rs752890788 |
264 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1255393635 CA400437739 |
267 | C>S | No |
ClinGen gnomAD |
|
|
CA400437681 rs1217202042 |
271 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1434672946 CA400437672 |
272 | V>M | No |
ClinGen gnomAD |
|
|
CA292161623 rs1021394659 |
274 | S>F | No |
ClinGen TOPMed |
|
|
CA400437599 rs1267717751 |
277 | M>K | No |
ClinGen gnomAD |
|
|
CA8683250 rs781242995 |
280 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400437543 rs1484827586 |
280 | K>N | No |
ClinGen gnomAD |
|
|
rs755211761 CA8683249 |
281 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683230 rs199598962 |
285 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400437389 rs199598962 |
285 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598863920 CA400437384 |
286 | Y>C | No |
ClinGen Ensembl |
|
|
CA400437361 rs1382700879 |
289 | L>S | No |
ClinGen gnomAD |
|
|
CA8683227 rs751790687 |
292 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201329824 CA8683228 |
292 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400437340 rs1415700586 |
292 | L>V | No |
ClinGen gnomAD |
|
|
rs1391725039 CA400437306 |
296 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8683225 rs921235824 |
296 | Y>C | No |
ClinGen TOPMed |
|
|
rs780311442 CA8683224 |
297 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1224028 CA8683223 rs758122913 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA292161223 rs1039688609 |
302 | I>L | No |
ClinGen TOPMed |
|
|
CA400437204 rs1163175263 |
305 | W>* | No |
ClinGen TOPMed |
|
|
CA8683222 rs201992757 |
307 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683221 rs765062518 |
307 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444241232 CA400437155 |
309 | L>F | No |
ClinGen gnomAD |
|
|
rs1195506832 CA400437128 |
311 | S>G | No |
ClinGen gnomAD |
|
|
CA400437110 rs1353972737 |
312 | Y>C | No |
ClinGen TOPMed |
|
|
rs1391022471 CA400437096 COSM1384935 |
313 | G>E | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1399609387 CA400437101 |
313 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA400437088 rs1340316796 |
314 | E>K | No |
ClinGen gnomAD |
|
|
CA8683218 rs138794420 |
318 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8683217 rs760347973 |
319 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400437017 rs1245786829 |
321 | W>* | No |
ClinGen TOPMed |
|
|
CA8683215 rs767347823 |
325 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775559789 CA8683214 |
327 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400436957 rs1327621597 |
331 | Y>H | No |
ClinGen gnomAD |
|
|
CA8683213 rs369331866 |
331 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683212 rs770155911 |
332 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1308356090 CA400436940 |
333 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8683211 rs545176136 |
335 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400436905 rs1568542798 |
337 | L>W | No |
ClinGen Ensembl |
|
| TCGA novel | 338 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767058583 CA8683194 |
340 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1224280935 | 340 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8683193 rs759260685 |
342 | H>Y | No |
ClinGen ExAC |
|
| TCGA novel | 344 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452643229 CA400436832 |
348 | Q>* | No |
ClinGen gnomAD |
|
|
rs773378191 CA8683192 |
348 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8683190 rs77495043 |
349 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764078416 CA292160853 |
351 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs764078416 CA400436813 |
351 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8683189 COSM1589103 rs777117173 |
351 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568542736 CA400436809 |
352 | I>V | No |
ClinGen Ensembl |
|
|
CA8683187 rs747068367 |
353 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA400436795 rs1166800965 |
354 | F>L | No |
ClinGen TOPMed |
|
|
CA8683185 rs376898864 |
357 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775567916 CA8683186 |
357 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA292159737 rs953997166 |
358 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1598862477 CA400436545 |
362 | A>P | No |
ClinGen Ensembl |
|
|
rs1180746023 CA400436534 |
363 | A>V | No |
ClinGen gnomAD |
|
|
rs1482009927 CA400436531 |
364 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA292159693 rs200572570 |
367 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683156 rs200572570 |
367 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400436499 rs1230367849 |
368 | C>* | No |
ClinGen gnomAD |
|
|
CA8683155 rs367607184 |
368 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400436502 rs1413068542 |
368 | C>Y | No |
ClinGen TOPMed |
|
|
rs73318983 CA400436480 |
371 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400436481 rs73318983 |
371 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73318983 CA8683152 |
371 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8683153 rs374047009 |
371 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8683151 rs779733197 |
372 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1448948778 CA400436460 |
374 | I>T | No |
ClinGen gnomAD |
|
|
CA8683148 rs758068692 |
377 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8683146 rs764447891 |
379 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1164772111 CA400436418 |
380 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1164772111 CA400436417 |
380 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs981099001 CA292159628 |
384 | K>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 384 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258952299 CA400436383 |
385 | P>S | No |
ClinGen TOPMed |
|
|
rs753236208 CA8683144 |
386 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767976996 CA8683143 |
387 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1201063165 CA400436371 |
387 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400436370 rs1201063165 |
387 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA400436356 rs11368 |
389 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206996344 CA400436350 |
390 | C>F | No |
ClinGen gnomAD |
|
|
rs548013831 CA8683141 |
391 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1193606004 CA400436343 |
391 | Q>R | No |
ClinGen TOPMed |
|
|
rs1328655426 CA400436325 |
392 | H>Y | No |
ClinGen gnomAD |
|
|
rs146980146 CA8683126 |
393 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400436307 rs1371594128 |
394 | F>C | No |
ClinGen TOPMed |
|
|
CA8683125 rs753045601 |
395 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1300969840 CA400436289 |
397 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1370325140 CA400436280 |
398 | C>R | No |
ClinGen gnomAD |
|
|
rs1327241777 CA400436278 |
398 | C>Y | No |
ClinGen gnomAD |
|
|
CA400436269 rs1385738398 |
399 | M>T | No |
ClinGen gnomAD |
|
|
CA8683123 rs755465759 |
400 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751621827 CA8683122 |
401 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA8683120 rs200047998 |
402 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400436235 rs1434727329 |
404 | N>Y | No |
ClinGen gnomAD |
|
|
rs773561530 CA8683119 |
405 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA400436218 rs1266244602 |
406 | E>D | No |
ClinGen gnomAD |
|
|
CA8683118 rs765593493 |
406 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs370354835 CA8683117 |
407 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1351611367 CA400436195 |
410 | P>A | No |
ClinGen gnomAD |
|
|
rs1255672718 CA400436187 |
411 | L>F | No |
ClinGen gnomAD |
|
|
rs1231526670 CA400436179 |
412 | C>Y | No |
ClinGen gnomAD |
|
|
CA400436173 rs1304644578 |
413 | R>K | No |
ClinGen gnomAD |
|
|
rs768597776 CA8683115 |
416 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA292159050 rs1055694079 |
421 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM1224029 rs1170515203 CA400436101 |
423 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 423 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170515203 CA400436103 |
423 | W>L | No |
ClinGen gnomAD |
|
|
CA8683110 rs745450937 |
426 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1167730594 CA400436059 |
429 | S>L | No |
ClinGen gnomAD |
|
|
rs778507676 CA8683109 |
430 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1230089539 CA400436052 |
431 | H>D | No |
ClinGen TOPMed |
|
|
rs1249841846 CA400436039 |
433 | Q>K | No |
ClinGen gnomAD |
|
|
CA8683108 rs200320106 |
434 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400436023 rs1198888317 |
435 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748499116 CA8683107 |
435 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460282615 CA773674735 |
435 | Y>S | No |
ClinGen Ensembl |
No associated diseases with Q5M7Z0
1 regional properties for Q5M7Z0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 53 - 400 | IPR017452 |
3 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of ERAD pathway | Any process that activates or increases the frequency, rate or extent of ERAD pathway. |
| protein autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UKV5 | AMFR | E3 ubiquitin-protein ligase AMFR | Homo sapiens (Human) | PR |
| Q8WU17 | RNF139 | E3 ubiquitin-protein ligase RNF139 | Homo sapiens (Human) | PR |
| Q7TMV1 | Rnf139 | E3 ubiquitin-protein ligase RNF139 | Mus musculus (Mouse) | PR |
| Q9R049 | Amfr | E3 ubiquitin-protein ligase AMFR | Mus musculus (Mouse) | PR |
| Q9DCN7 | Rnft1 | E3 ubiquitin-protein ligase RNFT1 | Mus musculus (Mouse) | PR |
| P90859 | F26E4.3 | E3 ubiquitin-protein ligase hrd-like protein 1 | Caenorhabditis elegans | PR |
| Q7ZWF4 | rnf145 | RING finger protein 145 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A5WW08 | chfr | E3 ubiquitin-protein ligase CHFR | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q6NZ21 | rnft1 | E3 ubiquitin-protein ligase RNFT1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLFLLSLPT | PPSASGHERR | QRPEAKTSGS | EKKYLRAMQA | NRSQLHSPPG | TGSSEDASTP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QCVHTRLTGE | GSCPHSGDVH | IQINSIPKEC | AENASSRNIR | SGVHSCAHGC | VHSRLRGHSH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEARLTDDTA | AESGDHGSSS | FSEFRYLFKW | LQKSLPYILI | LSVKLVMQHI | TGISLGIGLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTFMYANKSI | VNQVFLRERS | SKIQCAWLLV | FLAGSSVLLY | YTFHSQSLYY | SLIFLNPTLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HLSFWEVFWI | VGITDFILKF | FFMGLKCLIL | LVPSFIMPFK | SKGYWYMLLE | ELCQYYRTFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PIPVWFRYLI | SYGEFGNVTR | WSLGILLALL | YLILKLLEFF | GHLRTFRQVL | RIFFTQPSYG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VAASKRQCSD | VDDICSICQA | EFQKPILLIC | QHIFCEECMT | LWFNREKTCP | LCRTVISDHI |
| 430 | |||||
| NKWKDGATSS | HLQIY |