Q676U5
PR
Gene name |
ATG16L1 |
Protein name |
Autophagy-related protein 16-1 |
Names |
APG16-like 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55054 |
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
13 structures for Q676U5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4GDK | X-ray | 270 A | C/F | 11-43 | PDB |
| 4GDL | X-ray | 288 A | C | 11-43 | PDB |
| 4NAW | X-ray | 220 A | C/G/K/O | 11-43 | PDB |
| 4TQ0 | X-ray | 270 A | B/D/F | 1-69 | PDB |
| 5D7G | X-ray | 300 A | B/D/F/H | 1-69 | PDB |
| 5NPV | X-ray | 310 A | B/D | 11-307 | PDB |
| 5NPW | X-ray | 310 A | B/D/F/H | 11-307 | PDB |
| 5NUV | X-ray | 155 A | A | 303-607 | PDB |
| 5ZYX | NMR | - | A | 12-31 | PDB |
| 7F69 | X-ray | 150 A | C | 207-236 | PDB |
| 7W36 | X-ray | 300 A | B | 13-33 | PDB |
| 7XFR | X-ray | 176 A | B/D | 124-188 | PDB |
| AF-Q676U5-F1 | Predicted | AlphaFoldDB |
366 variants for Q676U5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000001189 rs2241880 CA114782 VAR_021834 RCV000180346 |
300 | T>A | Inflammatory bowel disease 10, susceptibility to IBD10; has no effect on the stability of the protein under normal conditions; enhances the cleavage and the degradation mediated by activated CASP3; results in reduced autophagy and defective clearance of intestinal pathogens; impairs interaction with TMEM59; slows TMEM59 intracellular trafficking; increases production of type I IFNs [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA351035943 rs1574831491 |
3 | S>A | No |
Ensembl ClinGen |
|
|
rs572719929 CA2173393 |
3 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759931413 CA2173395 |
5 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs1472949582 CA351035990 |
7 | A>T | No |
ClinGen gnomAD |
|
|
rs1391375819 CA351036006 |
8 | A>V | No |
TOPMed ClinGen |
|
|
CA351036021 rs1289788345 |
9 | D>E | No |
ClinGen TOPMed |
|
|
rs996664851 CA351036030 |
10 | F>L | No |
ClinGen gnomAD |
|
|
rs1362593101 CA351036026 |
10 | F>L | No |
TOPMed ClinGen |
|
|
CA351036039 rs1405291656 |
12 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351036042 rs1401939098 |
12 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1361799971 CA351036084 |
15 | R>H | No |
ClinGen gnomAD |
|
|
CA351036077 rs1158657804 |
15 | R>S | No |
ClinGen gnomAD |
|
|
rs1414677706 CA351036093 |
16 | H>Y | No |
ClinGen gnomAD |
|
|
CA351036132 rs1357787345 |
18 | S>L | No |
gnomAD ClinGen |
|
|
CA351036144 rs1384671195 |
19 | E>G | No |
ClinGen TOPMed |
|
|
rs1279196379 CA351036153 |
20 | Q>K | No |
gnomAD ClinGen |
|
|
rs553862118 CA2173398 |
23 | R>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2173399 rs576750644 |
26 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1485396476 CA351036232 |
26 | R>W | No |
ClinGen TOPMed |
|
|
rs1208609885 CA351036253 |
28 | Q>* | No |
ClinGen gnomAD |
|
|
CA351036302 rs751160626 |
31 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2173400 rs751160626 |
31 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1223606649 CA351036300 |
31 | A>T | No |
TOPMed ClinGen |
|
| TCGA novel | 33 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA67534130 rs904369146 |
35 | I>F | No |
ClinGen Ensembl |
|
|
CA67537733 rs896373187 |
39 | Y>C | No |
Ensembl ClinGen |
|
|
rs770204917 CA2173413 |
42 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332334493 CA351037073 |
43 | L>Q | No |
gnomAD ClinGen |
|
|
CA2173414 rs776024119 |
44 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1244860169 CA351037102 |
47 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs764415292 CA2173416 |
47 | D>H | No |
ExAC gnomAD ClinGen |
|
|
rs1012594392 CA67537775 |
49 | H>R | No |
Ensembl ClinGen |
|
|
rs981291834 CA67537818 |
51 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs962541839 CA67537804 |
51 | V>M | No |
ClinGen Ensembl |
|
|
CA2173419 rs373586724 |
53 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351037143 rs1202569523 |
54 | Q>R | No |
TOPMed ClinGen |
|
|
CA351037164 rs1349525910 |
57 | Q>R | No |
TOPMed ClinGen |
|
|
rs755588218 CA2173421 |
59 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173422 rs766262130 |
60 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA351037191 rs754870237 |
61 | H>P | No |
ExAC gnomAD ClinGen |
|
|
rs778821627 CA2173425 |
61 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs754870237 CA2173424 |
61 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757564400 CA2173427 |
63 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173429 rs201582959 |
68 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 70 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173430 rs769869872 |
70 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs774776145 CA2173452 |
72 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351038786 rs794727513 |
74 | D>H | No |
ClinGen gnomAD |
|
|
CA243445 RCV000177298 rs794727513 |
74 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2173453 rs748546562 |
75 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs1440124759 CA351038843 |
80 | N>H | No |
Ensembl ClinGen |
|
|
CA2173456 rs765666391 |
80 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA2173459 rs776269085 CA351038855 |
81 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs765873477 CA2173457 |
81 | Q>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs149410702 CA67542983 |
84 | E>A | No |
ESP ExAC gnomAD ClinGen |
|
|
CA2173461 rs149410702 |
84 | E>G | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1257199629 CA351038917 |
91 | K>Q | No |
gnomAD ClinGen |
|
|
CA2173462 rs762889446 |
92 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763914303 CA2173463 |
100 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1669862 CA351039007 rs1420330153 |
103 | R>C | haematopoietic_and_lymphoid_tissue Variant assessed as Somatic; 9.246e-05 impact. [Cosmic, NCI-TCGA] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1260250872 CA351039051 |
108 | Q>E | No |
ClinGen gnomAD |
|
|
CA67543681 rs878987991 |
109 | L>R | No |
ClinGen Ensembl |
|
|
CA2173488 rs754014207 |
110 | V>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 114 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778932767 CA2173490 |
116 | Q>E | No |
ExAC gnomAD ClinGen |
|
|
CA2173491 rs753271055 |
117 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA67543734 rs759193166 |
119 | R>Q | No |
ClinGen gnomAD |
|
|
CA2173492 rs758931313 |
119 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903406340 CA67543741 |
121 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
rs778085159 CA2173493 |
122 | R>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 123 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747428717 CA2173494 |
123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2173495 rs771149152 |
124 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA351039158 rs771149152 |
124 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA351039166 rs1481529777 |
125 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 126 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351039177 rs1162232274 |
126 | M>T | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 131 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1037064609 CA67544441 |
131 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769343970 CA2173518 |
132 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172644391 CA351039948 |
134 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA67544457 rs146373997 |
135 | L>S | No |
ESP TOPMed ClinGen |
|
|
CA67544459 rs146373997 |
135 | L>W | No |
ESP TOPMed ClinGen |
|
|
CA351039974 rs1414504635 |
136 | Q>* | No |
gnomAD ClinGen |
|
|
CA2173520 rs768003622 |
137 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2173519 rs775043053 |
137 | T>S | No |
ExAC gnomAD ClinGen |
|
|
CA351040000 rs1229034511 |
138 | I>V | No |
gnomAD ClinGen |
|
| TCGA novel | 139 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774397068 COSM1195109 CA2173521 |
143 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA2173522 rs748005392 |
144 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs993560234 CA67544477 |
145 | C>Y | No |
Ensembl ClinGen |
|
|
CA2173525 rs760408227 |
148 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2173524 rs772982075 |
148 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA2173526 rs765452525 |
149 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA351040145 rs765452525 |
149 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs372324732 CA351040148 |
149 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372324732 CA2173527 |
149 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs763139228 CA2173528 |
150 | T>A | No |
ExAC gnomAD ClinGen |
|
|
rs1161003847 CA351040201 |
153 | C>Y | No |
gnomAD ClinGen |
|
|
rs1288204811 CA351040306 |
159 | N>D | No |
ClinGen TOPMed |
|
|
CA2173530 rs752171225 |
159 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA67544515 rs1015504038 |
163 | K>T | No |
Ensembl ClinGen |
|
|
CA351040544 rs1414319378 |
165 | E>K | No |
ClinGen gnomAD |
|
|
rs1307622211 CA351040594 |
166 | Y>C | No |
ClinGen gnomAD |
|
|
rs1332606137 CA351040640 |
167 | D>G | No |
gnomAD ClinGen |
|
|
rs1408101565 CA351040786 |
172 | T>A | No |
ClinGen TOPMed |
|
|
rs1279135981 CA351040989 |
178 | G>E | No |
ClinGen gnomAD |
|
|
CA2173532 rs557331294 |
183 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2173533 rs750820589 |
184 | T>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779877833 CA2173535 |
188 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
| TCGA novel | 192 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 195 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 196 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 196 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442687725 CA351041640 |
199 | A>D | No |
gnomAD ClinGen |
|
|
rs748179936 CA351041676 |
200 | Q>L | No |
ExAC gnomAD ClinGen |
|
|
rs748179936 CA2173539 |
200 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1343097320 CA351041694 |
201 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351041742 rs1279096340 |
203 | N>D | No |
TOPMed gnomAD ClinGen |
|
|
CA351041739 rs1279096340 |
203 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs773069973 CA2173541 |
203 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351041789 rs1281401026 |
204 | R>Q | No |
ClinGen TOPMed |
|
|
rs746840032 COSM1017964 CA2173542 |
204 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
COSM350594 CA2173569 rs768763936 |
214 | R>S | lung [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
| TCGA novel | 215 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762004389 CA2173572 |
216 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA2173571 rs774590836 |
216 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467278849 CA351044270 |
218 | A>T | No |
gnomAD ClinGen |
|
|
rs115732365 CA2173577 |
219 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2173576 rs115732365 |
219 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2173575 rs773896903 |
219 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs960140288 CA67551581 |
221 | Q>H | No |
ClinGen TOPMed |
|
|
CA351044344 COSM1531422 rs752300374 |
222 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757941723 CA2173581 |
223 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA351044351 rs1193444382 |
223 | E>K | No |
ClinGen gnomAD |
|
|
rs777258059 CA2173582 |
225 | A>S | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 225 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751553093 CA2173583 |
227 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA67551597 rs866695330 |
228 | A>T | No |
ClinGen Ensembl |
|
|
CA2173584 rs757152084 |
228 | A>V | No |
ClinGen ExAC |
|
|
CA351044391 rs1456464509 |
229 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 231 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173586 rs745680085 |
234 | V>F | No |
ExAC ClinGen |
|
|
CA2173589 rs779324767 |
235 | E>* | No |
ExAC gnomAD ClinGen |
|
|
CA351044425 rs779324767 |
235 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs1342181384 CA351044436 |
236 | Q>R | No |
ClinGen gnomAD |
|
|
CA2173604 rs756750758 |
237 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA351045160 rs756750758 |
237 | D>V | No |
ExAC gnomAD ClinGen |
|
|
CA67553660 rs184757241 |
237 | D>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1559393636 CA351045214 |
240 | I>S | No |
Ensembl ClinGen |
|
|
rs1240290861 CA351045220 |
241 | E>K | No |
gnomAD ClinGen |
|
|
CA351045247 rs148404040 |
243 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs779992630 CA351045256 |
245 | D>H | No |
ExAC gnomAD ClinGen |
|
|
rs779992630 CA2173608 |
245 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA351045300 rs1457383255 |
248 | S>A | No |
ClinGen gnomAD |
|
|
rs1176846477 CA351045306 |
248 | S>C | No |
ClinGen gnomAD |
|
|
CA67553706 rs769738554 |
249 | D>H | No |
Ensembl ClinGen |
|
|
rs1382170516 CA351045327 |
250 | H>N | No |
ClinGen gnomAD |
|
|
CA351045376 rs1440205069 |
253 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378692996 CA351045388 |
254 | T>N | No |
TOPMed ClinGen |
|
|
CA351045381 rs375717026 |
254 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2173609 rs375717026 |
254 | T>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA351045424 rs1375738998 |
257 | V>G | No |
ClinGen gnomAD |
|
|
rs972132006 CA351045413 |
257 | V>L | No |
TOPMed ClinGen |
|
|
CA67553721 rs972132006 |
257 | V>M | No |
ClinGen TOPMed |
|
|
CA2173611 rs778077920 |
258 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA351045432 rs149927020 |
258 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2173612 rs149927020 |
258 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444010194 CA351045464 |
261 | S>G | No |
ClinGen gnomAD |
|
|
CA2173613 rs141644283 |
261 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777056344 CA2173614 |
262 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA351045501 rs746379269 |
263 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2173615 rs746379269 |
263 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2173616 rs770111022 |
264 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs1362051933 CA351045506 |
264 | A>V | No |
TOPMed ClinGen |
|
|
rs763232823 CA2173618 |
265 | T>A | No |
ExAC gnomAD ClinGen |
|
|
rs763766714 CA2173619 |
265 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316879134 CA351045576 |
267 | R>* | No |
TOPMed ClinGen |
|
|
CA2173645 rs765096319 |
267 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
COSM3838873 rs757511801 CA2173647 |
269 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA351045641 rs1459879903 |
272 | A>T | No |
ClinGen gnomAD |
|
|
CA2173651 rs780587327 |
277 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1280346591 CA351045727 |
279 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2173652 rs763416099 |
279 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769075316 CA2173653 |
280 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1403145746 CA351045747 |
281 | N>D | No |
gnomAD ClinGen |
|
|
rs779324948 CA2173654 |
281 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs748405935 CA2173655 |
282 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs892505480 CA67554379 |
284 | G>R | No |
ClinGen TOPMed |
|
|
rs755011254 COSM1183893 CA2173691 |
286 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA2173692 rs147657453 |
286 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen NCI-TCGA |
|
rs753125188 CA2173693 |
288 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781331480 CA67555206 |
288 | V>I | No |
ClinGen Ensembl |
|
|
rs1274406469 CA351046216 |
289 | S>C | No |
gnomAD ClinGen |
|
|
rs1241145044 CA351046236 |
291 | F>L | No |
TOPMed ClinGen |
|
|
rs1217878922 CA351046261 |
294 | P>S | No |
ClinGen TOPMed |
|
|
CA351046288 rs1197262857 |
296 | D>G | No |
ClinGen gnomAD |
|
|
CA2173695 rs373044901 |
296 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs746720219 CA2173696 |
297 | N>H | No |
ExAC gnomAD ClinGen |
|
|
rs1193226629 CA351046333 |
299 | D>E | No |
gnomAD ClinGen |
|
|
CA2173698 rs745391023 |
301 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778720985 CA67555242 |
302 | P>R | No |
ClinGen Ensembl |
|
|
rs1168559526 CA351046359 |
302 | P>S | No |
ClinGen gnomAD |
|
|
rs145790851 CA2173699 |
303 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2173700 rs775535712 |
306 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1866878 VAR_053386 CA2173701 |
307 | E>K | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA351046433 rs1350810591 |
308 | V>A | No |
TOPMed gnomAD ClinGen |
|
|
rs967809762 CA67555286 |
310 | V>I | No |
Ensembl ClinGen |
|
|
rs1275977609 CA351046659 |
311 | P>S | No |
gnomAD ClinGen |
|
| TCGA novel | 313 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173704 rs376992440 |
315 | L>F | No |
ESP ExAC gnomAD ClinGen |
|
|
CA2173705 rs766621615 |
316 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
CA351046700 rs1263385331 |
317 | V>A | No |
ClinGen gnomAD |
|
| rs776787304 | 318 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346514567 CA351046887 |
321 | H>R | No |
ClinGen TOPMed |
|
|
rs777897598 CA2173811 |
324 | E>A | No |
ExAC gnomAD ClinGen |
|
|
CA2173812 rs747005960 |
324 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs369850074 CA67558166 |
327 | A>S | No |
ClinGen Ensembl |
|
|
CA67558167 rs369850074 |
327 | A>T | No |
ClinGen Ensembl |
|
|
CA67558168 rs189479144 |
328 | V>M | No |
1000Genomes ClinGen |
|
|
CA2173815 rs746275841 |
329 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
rs1366578843 CA351046968 |
333 | G>A | No |
ClinGen gnomAD |
|
|
rs762578647 CA2173818 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs199912344 CA2173817 |
335 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197443013 CA351046989 |
337 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA351046993 rs1465779098 |
338 | A>S | No |
TOPMed ClinGen |
|
|
rs1273002301 CA351047014 |
341 | G>D | No |
ClinGen gnomAD |
|
|
CA351047037 rs1436545472 |
344 | R>H | No |
ClinGen gnomAD |
|
|
CA351047052 rs1574879400 |
346 | V>G | No |
Ensembl ClinGen |
|
|
rs1160571398 CA351047063 |
348 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2173821 CA2173822 rs543778947 |
350 | E>D | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA351047086 rs1480276345 |
351 | V>G | No |
gnomAD ClinGen |
|
|
rs1365746582 CA351047380 |
355 | K>T | No |
TOPMed ClinGen |
|
|
rs548817522 CA2173843 |
356 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548817522 CA2173844 |
356 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1315705068 CA351047410 |
357 | E>K | No |
ClinGen gnomAD |
|
|
rs760679008 CA2173845 |
359 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351047463 rs1299082861 |
360 | G>D | No |
gnomAD ClinGen |
|
|
CA351047456 rs1430809407 |
360 | G>S | No |
gnomAD ClinGen |
|
|
CA351047465 rs1299082861 |
360 | G>V | No |
gnomAD ClinGen |
|
|
rs1359314594 CA351047478 |
361 | S>F | No |
gnomAD ClinGen |
|
|
rs766364379 CA2173846 |
363 | S>F | No |
ExAC gnomAD ClinGen |
|
|
rs1163365925 CA351047551 |
367 | A>T | No |
ClinGen TOPMed |
|
|
CA351047586 rs1374137385 |
369 | I>V | No |
Ensembl ClinGen |
|
|
CA2173849 rs764403791 |
372 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs776387762 CA2173865 |
378 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs1574889042 CA351047838 |
380 | Y>S | No |
Ensembl ClinGen |
|
|
rs373156207 CA2173866 |
381 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1042991322 CA67561689 |
383 | A>V | No |
ClinGen TOPMed |
|
|
rs764933153 CA2173867 |
386 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2173868 rs774688806 |
388 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA351047976 rs1574889091 |
389 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 391 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351048072 rs1403277936 |
396 | D>Y | No |
ClinGen gnomAD |
|
|
CA2173871 COSM3798766 rs750531342 |
397 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs756137361 CA2173872 |
398 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901312933 CA351048105 |
399 | R>L | No |
ClinGen TOPMed |
|
|
rs901312933 CA67561745 |
399 | R>Q | No |
TOPMed ClinGen |
|
|
rs542387880 CA67567348 |
404 | L>F | No |
ClinGen gnomAD |
|
|
rs979881084 CA67567356 |
405 | T>A | No |
ClinGen TOPMed |
|
|
rs1248529688 COSM3695343 CA351048623 |
405 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2173952 rs200219487 |
415 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1486935233 CA351048706 |
418 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 418 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351048703 rs769320310 |
418 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242949611 CA351048720 |
420 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751543614 CA351048726 |
421 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2173955 rs138834219 |
421 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs751543614 CA2173956 COSM1017974 |
421 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs959053264 CA67567378 COSM1183897 |
422 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs760380080 CA2173958 |
422 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA2173960 rs202029236 |
428 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA67567395 rs200355188 |
429 | D>N | No |
ClinGen gnomAD |
|
|
rs765196973 CA2173962 |
430 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1452320301 CA351048840 |
432 | L>F | No |
ClinGen gnomAD |
|
|
rs1240337863 CA351048880 |
435 | W>* | No |
ClinGen gnomAD |
|
|
rs758182022 CA2173964 |
436 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA351048887 rs1356094467 |
436 | D>Y | No |
gnomAD ClinGen |
|
|
rs777616242 CA2173965 |
438 | R>C | No |
ExAC gnomAD ClinGen |
|
|
COSM175617 CA351048912 rs1384387635 |
438 | R>H | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA2173966 rs751259779 |
440 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 442 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331384066 CA351049027 |
443 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 444 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262479672 CA351049107 |
451 | S>I | No |
ClinGen gnomAD |
|
|
rs1251193417 CA351049117 |
452 | C>W | No |
TOPMed ClinGen |
|
|
CA2173998 rs769365805 |
453 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1177722550 CA351049154 |
458 | T>P | No |
ClinGen TOPMed |
|
|
rs775091499 CA2173999 |
459 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351049169 rs1456257461 |
460 | Q>* | No |
TOPMed ClinGen |
|
| TCGA novel | 461 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762334682 CA2174000 |
461 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351049192 rs1203904201 |
463 | M>T | No |
ClinGen TOPMed |
|
|
CA351049261 rs1179291397 |
472 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351049258 rs1379153582 |
472 | R>S | No |
TOPMed gnomAD ClinGen |
|
|
rs369878971 CA351049446 |
480 | S>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2174026 rs369878971 |
480 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419694524 CA351049461 |
481 | I>M | No |
ClinGen TOPMed |
|
|
CA351049454 rs1299314612 |
481 | I>V | No |
ClinGen TOPMed |
|
|
rs1365653356 CA351049477 |
483 | R>G | No |
ClinGen gnomAD |
|
|
CA351049481 rs1388588234 |
483 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752838988 CA2174027 |
484 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs758560915 CA2174028 |
485 | M>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 486 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2174030 rs764074593 |
491 | I>F | No |
ExAC gnomAD ClinGen |
|
|
CA2174029 rs764074593 |
491 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351049617 rs1167354580 |
495 | D>A | No |
ClinGen TOPMed |
|
|
rs1342530405 CA351049645 |
499 | E>* | No |
gnomAD ClinGen |
|
|
CA351049655 rs1406128060 |
500 | R>M | No |
TOPMed ClinGen |
|
|
CA351049664 rs1221301315 |
502 | E>K | No |
gnomAD ClinGen |
|
|
rs1053953803 CA67568880 |
508 | R>C | No |
ClinGen TOPMed |
|
|
CA351049726 rs1264075662 |
511 | L>M | No |
TOPMed ClinGen |
|
|
CA2174034 rs756414843 |
511 | L>S | No |
ExAC gnomAD ClinGen |
|
|
rs779817233 CA2174035 |
513 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs748890352 CA2174036 |
515 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA351049757 rs1392429490 |
516 | D>H | No |
ClinGen gnomAD |
|
|
rs772134294 CA67568913 |
518 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
rs768289250 CA2174037 |
521 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2174038 rs774012550 |
522 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770963087 CA67568942 |
524 | Q>K | No |
Ensembl ClinGen |
|
| TCGA novel | 526 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 529 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA67569163 rs144457166 |
529 | P>R | No |
ESP ClinGen |
|
|
CA67569168 rs1003986415 |
531 | F>Y | No |
TOPMed ClinGen |
|
|
CA351049889 rs1381021124 |
534 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1228545979 CA351049910 |
536 | D>E | No |
ClinGen gnomAD |
|
|
rs914350322 CA67569173 |
541 | V>A | No |
TOPMed ClinGen |
|
|
CA2174080 rs778756610 |
544 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA351050006 rs778756610 |
544 | P>S | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 545 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758048364 CA2174082 |
547 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2174084 rs140671487 |
550 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA351050066 rs1431256321 |
553 | S>C | No |
ClinGen gnomAD |
|
|
rs1039413953 CA67569915 |
555 | E>D | No |
ClinGen Ensembl |
|
|
CA351050091 rs1308196334 |
557 | S>C | No |
ClinGen gnomAD |
|
|
rs147191546 CA2174086 |
558 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs189068912 CA2174090 |
562 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772225875 CA2174091 |
563 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs772225875 CA351050128 |
563 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2174092 rs773187570 |
567 | K>T | No |
ExAC gnomAD ClinGen |
|
|
CA67569935 rs1050018570 |
568 | V>L | No |
TOPMed ClinGen |
|
| TCGA novel | 570 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574218279 CA2174119 |
580 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763706397 CA2174120 |
581 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs763706397 CA351050376 |
581 | N>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1471623952 CA351050391 |
582 | A>G | No |
ClinGen gnomAD |
|
|
COSM1017982 rs1471623952 CA351050393 |
582 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs751214302 CA2174121 |
584 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351050409 rs751214302 |
584 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2174122 rs756788551 |
584 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA351050442 rs1437839970 |
586 | S>L | No |
gnomAD ClinGen |
|
|
CA2174125 rs769189002 |
587 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779928715 CA2174126 |
590 | S>L | Variant assessed as Somatic; 9.336e-05 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs201538133 CA2174128 |
591 | H>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA351050490 rs1186911985 |
591 | H>N | No |
ClinGen TOPMed |
|
|
CA2174129 rs576438723 |
592 | V>I | Variant assessed as Somatic; 4.667e-05 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA351050580 rs1264366630 |
598 | G>R | No |
ClinGen TOPMed |
|
|
CA67570797 rs775003704 |
603 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 605 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762432600 CA2174133 |
605 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q676U5
[MIM: 611081]: Inflammatory bowel disease 10 (IBD10)
A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:17200669, ECO:0000269|PubMed:17435756, ECO:0000269|PubMed:17484864, ECO:0000269|PubMed:18047540, ECO:0000269|PubMed:18499543, ECO:0000269|PubMed:18985712, ECO:0000269|PubMed:19659808, ECO:0000269|PubMed:24553140, ECO:0000269|PubMed:24656308, ECO:0000269|PubMed:25645662, ECO:0000269|PubMed:27273576}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:17200669, ECO:0000269|PubMed:17435756, ECO:0000269|PubMed:17484864, ECO:0000269|PubMed:18047540, ECO:0000269|PubMed:18499543, ECO:0000269|PubMed:18985712, ECO:0000269|PubMed:19659808, ECO:0000269|PubMed:24553140, ECO:0000269|PubMed:24656308, ECO:0000269|PubMed:25645662, ECO:0000269|PubMed:27273576}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
4 regional properties for Q676U5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sterile alpha motif domain | 269 - 335 | IPR001660 |
| repeat | Ankyrin repeat | 43 - 108 | IPR002110-1 |
| repeat | Ankyrin repeat | 108 - 211 | IPR002110-2 |
| domain | ASZ1, SAM domain | 270 - 333 | IPR042650 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| Atg12-Atg5-Atg16 complex | A protein complex required for the expansion of the autophagosomal membrane. In budding yeast, this complex consists of Atg12p, Atg5p and Atg16p. |
| autophagosome | A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy. |
| autophagosome membrane | The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered. |
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endolysosome membrane | The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome. |
| phagophore assembly site membrane | A cellular membrane associated with the phagophore assembly site. |
| sperm midpiece | The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece. |
| vacuole-isolation membrane contact site | An organelle membrane contact site formed at the junction of the vacuolar membrane and the isolation membrane or phagophore in response to starvation or other stresses, leading to the formation of the autophagosome. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase binding | Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP. |
| identical protein binding | Binding to an identical protein or proteins. |
| ubiquitin-like protein transferase activity | Catalysis of the transfer of a ubiquitin-like from one protein to another via the reaction X-ULP + Y --> Y-ULP + X, where both X-ULP and Y-ULP are covalent linkages. ULP represents a ubiquitin-like protein. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagosome assembly | The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm. |
| C-terminal protein lipidation | The covalent attachment of a lipid group to the carboxy-terminus of a protein. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| lysosomal microautophagy | The transfer of cytosolic components into the lysosomal compartment by direct invagination of the lysosomal membrane without prior sequestration into an autophagosome. The engulfing membranes fuse, resulting in the lysosomal delivery of the cargo wrapped in a single membrane derived from the invaginated lysosomal membrane. In S. cerevisiae, the vacuole is the lysosomal compartment. |
| macroautophagy | The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded. |
| negative stranded viral RNA replication | A viral genome replication process where the template genome is negative stranded, single stranded RNA ((-)ssRNA). |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| protein lipidation | The covalent attachment of lipid groups to an amino acid in a protein. |
| protein lipidation involved in autophagosome assembly | The protein lipidation process by which phosphatidylethanolamine is conjugated to a protein of the ATG8 family, leading to membrane insertion of the protein as a step in autophagosome assembly. |
| protein localization to phagophore assembly site | Any process in which a protein is transported to, or maintained at, the phagophore assembly site (PAS). |
| 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. |
| xenophagy | The selective autophagy process in which a region of cytoplasm containing an intracellular pathogen or some part of an intracellular pathogen (e.g. viral capsid) is enclosed in a double membrane bound autophagosome, which then fuses with the lysosome leading to degradation of the contents. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NAA4 | ATG16L2 | Protein Atg16l2 | Homo sapiens (Human) | PR |
| Q6KAU8 | Atg16l2 | Protein Atg16l2 | Mus musculus (Mouse) | PR |
| Q8C0J2 | Atg16l1 | Autophagy-related protein 16-1 | Mus musculus (Mouse) | PR |
| Q09406 | atg-16.2 | Autophagic-related protein 16.2 | Caenorhabditis elegans | PR |
| Q5I0B9 | atg16 | Autophagy-related protein 16 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSGLRAADF | PRWKRHISEQ | LRRRDRLQRQ | AFEEIILQYN | KLLEKSDLHS | VLAQKLQAEK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HDVPNRHEIS | PGHDGTWNDN | QLQEMAQLRI | KHQEELTELH | KKRGELAQLV | IDLNNQMQRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DREMQMNEAK | IAECLQTISD | LETECLDLRT | KLCDLERANQ | TLKDEYDALQ | ITFTALEGKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RKTTEENQEL | VTRWMAEKAQ | EANRLNAENE | KDSRRRQARL | QKELAEAAKE | PLPVEQDDDI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVIVDETSDH | TEETSPVRAI | SRAATKRLSQ | PAGGLLDSIT | NIFGRRSVSS | FPVPQDNVDT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HPGSGKEVRV | PATALCVFDA | HDGEVNAVQF | SPGSRLLATG | GMDRRVKLWE | VFGEKCEFKG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SLSGSNAGIT | SIEFDSAGSY | LLAASNDFAS | RIWTVDDYRL | RHTLTGHSGK | VLSAKFLLDN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ARIVSGSHDR | TLKLWDLRSK | VCIKTVFAGS | SCNDIVCTEQ | CVMSGHFDKK | IRFWDIRSES |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IVREMELLGK | ITALDLNPER | TELLSCSRDD | LLKVIDLRTN | AIKQTFSAPG | FKCGSDWTRV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VFSPDGSYVA | AGSAEGSLYI | WSVLTGKVEK | VLSKQHSSSI | NAVAWSPSGS | HVVSVDKGCK |
| AVLWAQY |