Q4G0F5
Gene name |
VPS26B |
Protein name |
Vacuolar protein sorting-associated protein 26B |
Names |
Vesicle protein sorting 26B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:112936 |
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 Q4G0F5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q4G0F5-F1 | Predicted | AlphaFoldDB |
217 variants for Q4G0F5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs758627881 CA6372179 |
3 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1037338422 CA231245456 |
5 | G>R | No |
ClinGen Ensembl |
|
|
rs1224117576 CA383493537 |
8 | Q>R | No |
ClinGen gnomAD |
|
|
CA6372180 rs150789700 |
10 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6372181 rs747138489 |
11 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383493556 rs1347279439 |
11 | E>Q | No |
ClinGen gnomAD |
|
|
CA383493565 rs1591874303 |
12 | V>G | No |
ClinGen Ensembl |
|
|
rs1050830778 CA231245466 |
12 | V>M | No |
ClinGen TOPMed |
|
|
CA383493928 rs1272604488 |
14 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA383493930 rs1166160486 |
15 | L>V | No |
ClinGen TOPMed |
|
|
rs377029699 CA231245468 |
16 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 18 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480395792 CA383493948 |
18 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1480395792 CA383493949 |
18 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA231245470 rs886849125 COSM1317354 |
19 | A>G | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1200836115 CA383493957 |
19 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs74462513 CA231245472 |
21 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383493991 rs1166887322 |
24 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1036512274 CA231245475 |
24 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs899357583 CA231245478 |
25 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383494006 rs748498512 |
26 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA383494010 rs1364775676 |
27 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1364775676 CA383494011 |
27 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6372186 rs371039042 |
30 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383494032 rs371039042 |
30 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762627075 CA6372187 |
31 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372189 rs773684939 |
32 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372191 rs759127190 |
33 | K>E | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA383494066 rs1290009980 |
33 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA383494064 rs1290009980 |
33 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6372192 rs373569374 |
34 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752690816 CA383494087 |
34 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425956800 CA383494089 |
35 | E>K | No |
ClinGen TOPMed |
|
|
CA383494148 rs1444718626 |
38 | F>I | No |
ClinGen gnomAD |
|
|
rs1191826980 CA383494176 |
39 | L>F | No |
ClinGen gnomAD |
|
|
rs1191826980 CA383494173 |
39 | L>V | No |
ClinGen gnomAD |
|
|
CA383494212 rs1161334800 |
41 | Y>C | No |
ClinGen gnomAD |
|
|
rs763813492 CA6372195 CA383494274 |
44 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1410702526 CA383494306 |
46 | V>A | No |
ClinGen TOPMed |
|
|
rs753649611 CA6372196 |
47 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1381638621 CA383494331 |
48 | G>W | No |
ClinGen gnomAD |
|
|
rs1317724622 CA383494360 |
50 | V>L | No |
ClinGen gnomAD |
|
|
CA6372198 rs780349854 |
53 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA383494419 rs780349854 |
53 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383494450 rs1313224434 |
55 | K>Q | No |
ClinGen gnomAD |
|
|
rs1023897341 CA231245515 |
58 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755131324 CA6372200 |
60 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA231245519 rs200076063 |
61 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1591874499 CA383494573 |
62 | E>G | No |
ClinGen Ensembl |
|
|
CA383494609 rs1224847997 |
65 | G>S | No |
ClinGen TOPMed |
|
|
CA383494616 rs1205099881 |
66 | I>L | No |
ClinGen gnomAD |
|
|
CA231245528 rs1035067092 |
70 | F>L | No |
ClinGen TOPMed |
|
|
CA383494713 rs1181328153 |
71 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 77 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746237444 CA6372244 |
77 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA383497334 rs1192969088 |
77 | Y>S | No |
ClinGen gnomAD |
|
|
rs981973943 CA231250791 |
79 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA231250800 rs370978210 |
80 | R>C | No |
ClinGen ESP |
|
|
CA6372247 rs746504494 |
80 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA231250811 rs989206678 |
81 | G>R | No |
ClinGen gnomAD |
|
|
CA231250817 rs913207297 |
83 | H>Q | No |
ClinGen TOPMed |
|
|
CA383497464 rs1350956246 |
84 | H>R | No |
ClinGen gnomAD |
|
|
CA6372249 rs776430967 |
85 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs748053554 CA6372250 |
89 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372254 rs767817735 |
94 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767817735 CA383497628 |
94 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231250850 rs775689975 |
95 | R>Q | No |
ClinGen TOPMed |
|
|
rs770181237 CA6372256 |
95 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6372257 rs764201176 |
99 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA383497694 rs1591879725 |
100 | T>P | No |
ClinGen Ensembl |
|
|
rs753875206 CA6372258 |
100 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA383497720 rs1213634546 |
102 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383497741 rs1565356498 |
104 | A>T | No |
ClinGen Ensembl |
|
|
CA6372261 rs184697812 |
106 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383497841 rs1591879753 |
110 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 111 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383497878 rs1443067262 |
112 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 113 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6372264 rs746733630 |
115 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 119 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6372268 rs769731323 |
120 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383498029 rs1380092795 |
121 | G>R | No |
ClinGen gnomAD |
|
|
CA383498043 rs1284564917 |
122 | Q>* | No |
ClinGen gnomAD |
|
|
rs1381146508 CA383498055 |
123 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6372271 rs770915188 |
127 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs997239900 CA231251016 |
127 | R>H | No |
ClinGen TOPMed |
|
|
rs140389768 CA231254902 |
129 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA6372299 rs201072669 |
131 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1477409536 CA383499006 |
131 | R>H | No |
ClinGen gnomAD |
|
|
CA6372300 rs751882827 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383499074 rs1426849194 |
135 | S>R | No |
ClinGen gnomAD |
|
|
rs1464288071 CA383499100 COSM466588 |
137 | R>C | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs147379113 CA6372302 |
139 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1043201395 CA231254941 |
141 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA383499172 rs1043201395 |
141 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383499216 rs1343676735 |
143 | K>N | No |
ClinGen gnomAD |
|
|
CA6372304 rs752358559 |
144 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA383499247 rs1591882366 |
145 | M>T | No |
ClinGen Ensembl |
|
|
CA383499243 rs1347357490 |
145 | M>V | No |
ClinGen gnomAD |
|
|
CA6372307 rs372253863 |
147 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs982822432 CA231254965 |
150 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1591882378 CA383499374 |
151 | T>A | No |
ClinGen Ensembl |
|
|
rs1450485246 CA383499427 |
153 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474217216 CA383499547 |
158 | L>P | No |
ClinGen gnomAD |
|
|
CA383499625 rs1161546577 |
161 | S>C | No |
ClinGen gnomAD |
|
|
CA383499610 rs1431433967 |
161 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs781475558 CA6372312 |
163 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372313 rs748256651 |
164 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1453730530 CA383499768 |
169 | E>K | No |
ClinGen TOPMed |
|
|
CA6372316 rs773229617 |
171 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6372315 rs773229617 |
171 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6372317 rs771398178 |
176 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343265147 CA383500031 |
179 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1301209173 CA383500046 |
180 | K>E | No |
ClinGen TOPMed |
|
|
CA6372318 rs774888517 |
181 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs759932615 CA6372319 |
182 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383501857 rs1458969286 |
187 | D>G | No |
ClinGen gnomAD |
|
|
rs764777364 CA6372345 |
189 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1397001036 CA383501918 |
193 | I>V | No |
ClinGen gnomAD |
|
|
rs763466532 CA6372350 |
200 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330620735 CA383502019 |
202 | I>L | No |
ClinGen gnomAD |
|
|
CA6372351 rs777959091 |
202 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA383502098 rs1255082256 |
207 | I>V | No |
ClinGen gnomAD |
|
|
rs374370712 CA6372352 |
208 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1248193556 CA383502140 |
209 | I>V | No |
ClinGen gnomAD |
|
|
CA383502212 rs1182833830 |
212 | R>Q | No |
ClinGen gnomAD |
|
|
CA231259759 rs1051455685 |
213 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA383502265 rs772426075 |
215 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372356 rs772426075 |
215 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346736700 CA383502325 |
218 | G>V | No |
ClinGen TOPMed |
|
|
CA6372359 rs769205837 |
220 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA383502374 rs769205837 |
220 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1351755902 CA383502397 |
221 | V>M | No |
ClinGen gnomAD |
|
|
CA231259808 rs111401005 |
225 | N>S | No |
ClinGen Ensembl |
|
|
CA6372361 rs761503499 |
227 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398683727 CA383502543 |
228 | I>T | No |
ClinGen TOPMed |
|
|
CA231259817 rs991788426 |
230 | K>M | No |
ClinGen TOPMed |
|
|
CA383502565 rs1249386226 |
230 | K>Q | No |
ClinGen gnomAD |
|
|
rs766206737 CA6372365 |
232 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751572708 CA6372366 |
233 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA231259824 rs898962728 |
237 | A>S | No |
ClinGen TOPMed |
|
|
rs898962728 CA383502753 |
237 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420035360 CA383503086 |
242 | E>Q | No |
ClinGen TOPMed |
|
|
CA383503149 COSM687166 rs1392483854 |
245 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 247 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6372382 rs770542325 |
249 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1363976307 CA383503264 |
251 | A>T | No |
ClinGen gnomAD |
|
|
CA6372384 rs759419191 |
251 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6372387 rs760510761 |
252 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1591488133 CA383503293 |
253 | Y>D | No |
ClinGen Ensembl |
|
|
rs758550271 CA6372390 |
255 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766420440 CA6372391 |
256 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383503457 rs1244134308 |
259 | M>I | No |
ClinGen gnomAD |
|
|
CA383503442 rs1209657435 |
259 | M>L | No |
ClinGen gnomAD |
|
|
CA383503469 rs1472034375 |
260 | R>Q | No |
ClinGen gnomAD |
|
|
CA383503468 rs1565359334 |
260 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA231261050 rs768146294 |
262 | I>S | No |
ClinGen Ensembl |
|
|
CA383503524 rs1591488150 |
263 | N>S | No |
ClinGen Ensembl |
|
|
rs751714973 CA6372392 |
265 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415136107 CA383503644 |
267 | S>F | No |
ClinGen gnomAD |
|
|
CA383503672 rs1217512115 |
268 | V>A | No |
ClinGen TOPMed |
|
|
rs146620670 CA6372394 |
270 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372393 rs146620670 |
270 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372395 rs748502635 |
276 | L>P | No |
ClinGen ExAC |
|
|
rs542416560 CA6372397 |
277 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6372398 rs748905855 |
277 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555057911 CA383503946 |
279 | E>D | No |
ClinGen Ensembl |
|
|
rs1303263162 CA383503991 |
282 | R>Q | No |
ClinGen gnomAD |
|
|
rs1447042634 COSM1676606 CA383503988 |
282 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1232372 CA383504024 rs1381214559 |
283 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 288 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231261420 rs909350877 |
290 | V>A | No |
ClinGen Ensembl |
|
|
rs745367343 CA6372420 |
291 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6372422 rs774980807 |
292 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs879813172 CA231261422 |
294 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 294 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427612035 CA383504718 |
297 | D>V | No |
ClinGen gnomAD |
|
|
CA383504725 rs1268037400 |
298 | I>N | No |
ClinGen TOPMed |
|
|
rs776450098 CA6372425 COSM1475278 |
299 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6372428 rs138823375 |
300 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372427 rs138823375 |
300 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6372426 rs541989590 |
300 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767640193 CA6372430 |
302 | S>N | No |
ClinGen ExAC |
|
|
CA383504755 rs1347990005 |
303 | M>I | No |
ClinGen TOPMed |
|
|
CA6372431 rs752838639 |
303 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA383504753 rs1591488342 |
303 | M>T | No |
ClinGen Ensembl |
|
|
CA6372432 rs751395535 COSM1352758 |
304 | S>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764547459 CA383504774 |
306 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764547459 CA6372433 |
306 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383504792 rs1555057961 |
309 | I>V | No |
ClinGen Ensembl |
|
|
CA6372436 COSM925182 rs778529826 |
313 | R>C | Variant assessed as Somatic; 4.644e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA231261468 rs568925080 |
313 | R>H | No |
ClinGen gnomAD |
|
|
rs758058105 CA383504830 |
315 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758058105 CA6372438 |
315 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746535728 CA383504839 |
316 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773295674 CA6372439 |
316 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6372440 rs746535728 |
316 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1187696711 CA383504851 |
318 | T>I | No |
ClinGen gnomAD |
|
|
CA231261516 rs938347654 |
319 | S>F | No |
ClinGen Ensembl |
|
|
rs201480019 CA6372443 |
320 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6372446 rs759776381 |
324 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6372445 rs773146019 |
324 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368644780 CA6372447 |
325 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383504888 rs1396919780 |
325 | T>I | No |
ClinGen gnomAD |
|
|
CA383504884 rs368644780 |
325 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368264193 CA383504905 |
328 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263608625 CA383504942 |
333 | N>S | No |
ClinGen TOPMed |
|
|
CA6372452 rs754369033 |
334 | C>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q4G0F5
No regional properties for Q4G0F5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q4G0F5 | |||
Functions
7 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 | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
| retromer complex | A conserved hetero-pentameric membrane-associated complex involved in retrograde transport from endosomes to the Golgi apparatus. The budding yeast retromer comprises Vps35p, Vps29p, Vps26p, Vps5p, and Vps17p. The mammalian complex shows slight variation in composition compared to yeast, and comprises SNX1 or SNX2, SNX5 or SNX6, VPS26A or VPS26B, VPS29, and VPS35. |
| retromer, cargo-selective complex | The trimeric subcomplex of the retromer, believed to be closely associated with the membrane. This trimeric complex is responsible for recognizing and binding to cargo molecules. The complex comprises three Vps proteins in both yeast and mammalian cells: Vps35p, Vps29p, and Vps26p in yeast, and VPS35, VPS29 and VPS26A or VPS26B in mammals. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| 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. |
| regulation of macroautophagy | Any process that modulates the frequency, rate or extent of macroautophagy. |
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0VD53 | VPS26A | Vacuolar protein sorting-associated protein 26A | Bos taurus (Bovine) | PR |
| O75436 | VPS26A | Vacuolar protein sorting-associated protein 26A | Homo sapiens (Human) | PR |
| P40336 | Vps26a | Vacuolar protein sorting-associated protein 26A | Mus musculus (Mouse) | PR |
| Q8C0E2 | Vps26b | Vacuolar protein sorting-associated protein 26B | Mus musculus (Mouse) | PR |
| Q6AY86 | Vps26a | Vacuolar protein sorting-associated protein 26A | Rattus norvegicus (Rat) | PR |
| O01258 | vps-26 | Vacuolar protein sorting-associated protein 26 | Caenorhabditis elegans | PR |
| Q28HT6 | vps26a | Vacuolar protein sorting-associated protein 26A | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q5BKM4 | vps26b | Vacuolar protein sorting-associated protein 26B | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6TNP8 | vps26a | Vacuolar protein sorting-associated protein 26A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q6DH23 | vps26bl | Vacuolar protein sorting-associated protein 26B-like | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSFFGFGQSV | EVEILLNDAE | SRKRAEHKTE | DGKKEKYFLF | YDGETVSGKV | SLALKNPNKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LEHQGIKIEF | IGQIELYYDR | GNHHEFVSLV | KDLARPGEIT | QSQAFDFEFT | HVEKPYESYT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GQNVKLRYFL | RATISRRLND | VVKEMDIVVH | TLSTYPELNS | SIKMEVGIED | CLHIEFEYNK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SKYHLKDVIV | GKIYFLLVRI | KIKHMEIDII | KRETTGTGPN | VYHENDTIAK | YEIMDGAPVR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GESIPIRLFL | AGYELTPTMR | DINKKFSVRY | YLNLVLIDEE | ERRYFKQQEV | VLWRKGDIVR |
| 310 | 320 | 330 | |||
| KSMSHQAAIA | SQRFEGTTSL | GEVRTPSQLS | DNNCRQ |