Q86UL3
Gene name |
GPAT4 |
Protein name |
Glycerol-3-phosphate acyltransferase 4 |
Names |
1-acylglycerol-3-phosphate O-acyltransferase 6, 1-AGP acyltransferase 6, 1-AGPAT 6, Acyl-CoA:glycerol-3-phosphate acyltransferase 4, Lysophosphatidic acid acyltransferase zeta, LPAAT-zeta, Testis spermatogenesis apoptosis-related protein 7, TSARG7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:137964 |
EC number |
2.3.1.15: Transferring groups other than amino-acyl groups |
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 Q86UL3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86UL3-F1 | Predicted | AlphaFoldDB |
251 variants for Q86UL3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs534990402 CA4726461 |
2 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201982831 CA4726462 |
9 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4726463 rs777623777 |
11 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4726464 rs749192194 |
12 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554740180 CA4726465 |
13 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1585660191 CA371043442 |
17 | I>L | No |
ClinGen Ensembl |
|
|
rs745525354 CA4726468 |
21 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA371043491 rs1329560534 |
22 | L>F | No |
ClinGen TOPMed |
|
|
CA371043490 rs1329560534 |
22 | L>V | No |
ClinGen TOPMed |
|
|
rs1585660222 CA371043510 |
24 | T>P | No |
ClinGen Ensembl |
|
|
rs1361225602 CA371043530 |
26 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760142023 CA4726471 |
27 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4726473 rs375002166 |
28 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4726474 rs762266933 |
30 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1182229 rs765600184 CA4726475 |
31 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA371043581 rs1384211933 |
31 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768242581 CA175907167 |
34 | A>V | No |
ClinGen Ensembl |
|
|
CA371043635 rs1280533019 |
37 | G>R | No |
ClinGen gnomAD |
|
|
rs1585660295 CA371043671 |
42 | I>T | No |
ClinGen Ensembl |
|
|
CA175907179 rs969162986 |
42 | I>V | No |
ClinGen gnomAD |
|
|
CA4726480 rs755038220 |
43 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA175907183 rs866666749 COSM486468 |
43 | R>H | kidney Variant assessed as Somatic; impact. central_nervous_system endometrium prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA371043696 rs1243226268 |
46 | Y>C | No |
ClinGen gnomAD |
|
|
rs781295731 CA4726481 |
47 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA371043709 rs1301317642 |
48 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 49 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 50 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778977102 CA4726484 |
55 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1372109334 CA371045995 |
61 | M>I | No |
ClinGen TOPMed |
|
|
rs1275622185 CA371045976 |
61 | M>T | No |
ClinGen gnomAD |
|
|
CA175911517 rs866267744 |
62 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4726507 rs377030711 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA371046105 rs1236795465 |
67 | E>Q | No |
ClinGen gnomAD |
|
|
CA4726508 rs747697851 |
69 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1182090751 CA371046191 |
71 | Q>* | No |
ClinGen gnomAD |
|
|
rs1166503660 CA371046209 |
72 | L>F | No |
ClinGen TOPMed |
|
|
CA175911527 rs962349795 |
75 | P>L | No |
ClinGen Ensembl |
|
|
rs1367474784 CA371046291 |
77 | T>P | No |
ClinGen gnomAD |
|
|
CA371046376 rs1276884119 |
79 | G>A | No |
ClinGen gnomAD |
|
|
CA371046319 rs1563276951 |
79 | G>R | No |
ClinGen Ensembl |
|
|
rs772540537 CA4726532 |
84 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4726533 rs775875846 |
85 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371046525 rs1343293234 |
87 | S>L | No |
ClinGen gnomAD |
|
|
rs1327307604 CA371046540 |
88 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 89 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371046665 rs1288022006 |
92 | I>M | No |
ClinGen TOPMed |
|
|
rs985928396 CA175911610 |
93 | K>E | No |
ClinGen TOPMed |
|
|
rs1280514007 CA371046678 |
93 | K>R | No |
ClinGen gnomAD |
|
|
CA175911612 rs755071830 COSM1099839 |
96 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA175911613 rs372267172 |
96 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs781072925 CA175911615 |
97 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781072925 CA4726536 |
97 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4726537 rs761795294 |
98 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs751431517 CA4726539 |
99 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs557789924 CA4726538 |
99 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375787922 CA371046782 |
101 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759349840 CA4726540 |
101 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs759349840 CA371046784 |
101 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371046803 rs1204002620 |
103 | A>T | No |
ClinGen gnomAD |
|
|
CA371046814 rs1175774828 |
104 | L>M | No |
ClinGen gnomAD |
|
|
CA4726541 rs767261622 |
104 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4726542 rs752353760 |
105 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA175911634 rs934038413 |
105 | D>N | No |
ClinGen TOPMed |
|
|
CA371046881 rs1287235071 |
106 | N>S | No |
ClinGen gnomAD |
|
|
CA4726543 rs755709726 |
109 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753450693 CA371046974 |
111 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4726545 rs753450693 |
111 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA371047020 rs1563277120 |
114 | D>N | No |
ClinGen Ensembl |
|
|
rs1236875142 CA371047053 |
115 | I>V | No |
ClinGen gnomAD |
|
|
rs779520353 CA175911658 |
120 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779520353 COSM1489289 CA4726547 |
120 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1352474249 CA371047162 |
120 | R>W | No |
ClinGen gnomAD |
|
|
CA371047197 rs1585670074 |
122 | G>R | No |
ClinGen Ensembl |
|
|
rs746325761 CA4726548 |
123 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA371047285 rs1563277144 |
126 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 133 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371047457 rs1427633989 |
137 | A>P | No |
ClinGen TOPMed |
|
|
CA4726554 rs776686044 |
141 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4726555 rs762003163 |
142 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4726556 rs769715619 |
142 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563277175 CA371047503 COSM318595 |
143 | W>C | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1347110962 CA371047530 |
147 | S>R | No |
ClinGen gnomAD |
|
|
CA4726558 rs759404870 |
149 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1487585042 CA371047547 |
150 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1487585042 CA371047546 |
150 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA175911694 rs267601921 |
154 | Q>* | No |
ClinGen Ensembl |
|
|
CA4726560 rs752549936 |
154 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs763844705 CA4726562 |
159 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760455234 CA4726561 |
159 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1211015184 CA371047626 |
160 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243368199 CA371047646 |
162 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1243368199 COSM1457066 CA371047643 |
162 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4726567 rs758917144 |
165 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA175911715 rs971058322 |
168 | V>M | No |
ClinGen Ensembl |
|
|
CA175911721 rs1002596164 COSM1099840 |
171 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA371047792 rs1319325108 |
173 | C>G | No |
ClinGen TOPMed |
|
|
CA371047833 rs1410370816 |
175 | L>P | No |
ClinGen gnomAD |
|
|
rs1164125493 CA371047862 |
177 | P>L | No |
ClinGen gnomAD |
|
|
CA4726572 rs781500138 |
179 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746883357 CA4726597 |
180 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA371048230 rs1213591396 |
181 | A>T | No |
ClinGen gnomAD |
|
|
rs1211834933 CA371048259 |
185 | T>I | No |
ClinGen gnomAD |
|
|
CA4726599 rs776233376 |
189 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs145222803 CA4726601 |
194 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371048330 rs1180479690 |
197 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747762111 CA175911926 |
197 | V>M | No |
ClinGen Ensembl |
|
|
CA4726602 rs772976570 |
200 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762573991 CA4726603 |
203 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs767946041 CA4726624 |
204 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371048407 rs1459861767 |
207 | E>* | No |
ClinGen gnomAD |
|
|
rs1166999453 CA371048410 |
207 | E>V | No |
ClinGen gnomAD |
|
|
rs1394945153 CA371048422 |
209 | M>V | No |
ClinGen gnomAD |
|
|
CA371048451 rs1178099968 |
212 | H>R | No |
ClinGen TOPMed |
|
|
rs144971917 CA4726627 |
213 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757415755 CA4726629 |
219 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1275110506 CA371048500 |
219 | R>W | No |
ClinGen TOPMed |
|
|
rs750536765 CA4726631 |
222 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758473461 CA4726632 COSM1099841 |
223 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371048524 rs1195551029 |
223 | R>Q | No |
ClinGen gnomAD |
|
|
CA371048529 rs1248819678 |
224 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4726633 rs181217466 |
224 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1327294593 CA371048539 |
226 | T>A | No |
ClinGen TOPMed |
|
|
CA371048569 rs1167021342 |
229 | I>F | No |
ClinGen gnomAD |
|
|
CA4726636 rs777651640 |
230 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371048584 rs1304452731 |
230 | T>I | No |
ClinGen gnomAD |
|
|
CA371048603 rs1165984834 |
232 | H>R | No |
ClinGen gnomAD |
|
|
rs377666224 CA4726637 |
232 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371048676 rs1293970965 |
238 | P>A | No |
ClinGen gnomAD |
|
|
rs757092018 CA4726656 |
238 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA371048679 rs1359375938 |
239 | R>G | No |
ClinGen TOPMed |
|
|
CA371048693 rs1563278173 |
240 | N>K | No |
ClinGen Ensembl |
|
|
rs1563278170 CA371048690 |
240 | N>S | No |
ClinGen Ensembl |
|
|
rs778456881 CA4726657 |
241 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041454554 CA175912488 |
244 | C>Y | No |
ClinGen TOPMed |
|
|
CA4726658 rs745496588 |
246 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311657925 CA371048773 |
248 | H>R | No |
ClinGen TOPMed |
|
|
CA371048784 rs1212555952 |
249 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4726661 rs746510734 COSM1099843 |
251 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4726660 rs775009661 |
251 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1428923387 CA371048801 |
252 | I>V | No |
ClinGen gnomAD |
|
|
CA4726665 rs765596568 |
260 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143037095 CA4726667 |
262 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4726666 rs773310525 |
262 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs143037095 CA371048937 |
262 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329229940 CA371049532 |
267 | G>A | No |
ClinGen gnomAD |
|
|
rs1477735109 CA371049591 |
271 | G>R | No |
ClinGen TOPMed |
|
|
CA371049609 rs1336702973 |
272 | G>E | No |
ClinGen gnomAD |
|
|
CA4726693 rs765075072 |
274 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371049670 rs1480459126 |
277 | I>F | No |
ClinGen gnomAD |
|
|
rs765318607 CA175912718 |
280 | A>V | No |
ClinGen Ensembl |
|
|
rs750301619 CA4726694 |
282 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs368929609 CA4726695 |
284 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187881943 CA371049808 |
286 | P>R | No |
ClinGen gnomAD |
|
|
rs751164953 CA175912730 |
288 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751164953 CA4726697 |
288 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563278482 CA371049867 |
289 | W>C | No |
ClinGen Ensembl |
|
|
CA175912738 rs371903817 |
291 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs754488446 CA4726698 |
291 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA371049893 rs1460211123 |
292 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1299459008 CA371049897 |
292 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1299459008 CA371049895 |
292 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371049909 rs1413571473 |
293 | S>L | No |
ClinGen gnomAD |
|
|
rs1427920537 CA371049923 |
294 | E>D | No |
ClinGen gnomAD |
|
|
rs1416576424 CA371049928 |
295 | V>L | No |
ClinGen TOPMed |
|
|
rs1338577920 CA371049947 |
296 | K>N | No |
ClinGen TOPMed |
|
|
rs770397529 CA4726701 |
298 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA371049966 rs1228798384 |
298 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1419161534 CA371050007 |
303 | K>E | No |
ClinGen Ensembl |
|
|
rs1190951657 CA371050070 |
306 | T>A | No |
ClinGen gnomAD |
|
|
CA4726724 rs749715016 |
307 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771335510 CA4726725 |
308 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs78295909 CA4726726 |
308 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746223695 CA4726727 |
309 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs772493321 CA4726728 |
311 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA371050105 rs1238673251 |
311 | D>G | No |
ClinGen TOPMed |
|
|
rs72638927 CA4726730 |
312 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1343323122 CA371050129 |
314 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768569811 CA4726731 |
319 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371050163 rs1220771897 |
320 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4726747 rs747159361 |
338 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4726748 rs374853413 |
341 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585674873 CA371050395 |
346 | Y>S | No |
ClinGen Ensembl |
|
|
CA4726750 rs374624501 |
349 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212167469 CA371050435 |
350 | I>M | No |
ClinGen gnomAD |
|
|
rs1167582807 CA371050893 |
358 | D>N | No |
ClinGen gnomAD |
|
|
rs1431828528 CA371050965 |
364 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1423307177 CA371050999 |
367 | G>R | No |
ClinGen TOPMed |
|
|
CA4726771 rs774300566 |
368 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467841263 CA371051038 |
370 | T>A | No |
ClinGen TOPMed |
|
|
rs777945418 CA4726772 |
374 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227098443 CA371051086 |
375 | M>L | No |
ClinGen gnomAD |
|
|
rs771864075 CA4726773 COSM1099845 CA371051106 |
376 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA371051110 rs1585678238 |
377 | T>P | No |
ClinGen Ensembl |
|
|
rs1228661101 CA371051123 |
378 | S>N | No |
ClinGen gnomAD |
|
|
rs1585678251 CA371051132 |
379 | W>G | No |
ClinGen Ensembl |
|
|
CA371051156 rs1279068173 |
380 | A>V | No |
ClinGen gnomAD |
|
|
CA371051161 rs1563280779 |
381 | I>V | No |
ClinGen Ensembl |
|
|
CA4726774 rs775210430 |
382 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs776328407 CA4726778 |
385 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4726777 rs776328407 |
385 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371051221 rs1585678287 |
387 | Y>S | No |
ClinGen Ensembl |
|
|
rs1313649685 CA371051242 |
389 | P>S | No |
ClinGen TOPMed |
|
|
CA175915414 rs764802073 |
390 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4726779 rs764802073 |
390 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300781541 CA371051247 |
390 | P>S | No |
ClinGen TOPMed |
|
|
CA175915420 rs946151758 |
391 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4726780 rs750971120 |
391 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384862026 CA371051272 |
392 | T>S | No |
ClinGen TOPMed |
|
|
rs776455733 CA4726794 |
395 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4726795 rs761493151 |
397 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1225680309 CA371051828 |
397 | E>K | No |
ClinGen TOPMed |
|
|
rs772923260 CA4726797 |
398 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1314022876 CA371051891 |
401 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175922710 rs878930531 |
404 | N>Y | No |
ClinGen Ensembl |
|
|
rs1312511288 CA371052178 |
418 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 418 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4726804 rs772946390 |
420 | L>Q | No |
ClinGen ExAC |
|
|
rs1254042510 CA371052305 |
423 | G>R | No |
ClinGen gnomAD |
|
|
rs375253090 CA4726817 |
428 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748770051 CA371052350 |
429 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371052348 rs1165076531 |
429 | K>R | No |
ClinGen gnomAD |
|
|
CA4726820 rs143006137 |
433 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4726819 rs143006137 |
433 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4726822 rs767995915 |
436 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1300950410 CA371052409 |
438 | Q>K | No |
ClinGen gnomAD |
|
|
CA371052458 rs1294548862 |
444 | K>R | No |
ClinGen gnomAD |
|
|
CA371052472 rs1341781737 |
446 | I>V | No |
ClinGen gnomAD |
|
|
CA175923500 rs963843628 |
447 | V>L | No |
ClinGen gnomAD |
|
|
rs1483387146 CA371052486 |
448 | G>E | No |
ClinGen gnomAD |
|
|
CA4726824 rs760999237 |
449 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1585679975 CA371052502 |
450 | H>Q | No |
ClinGen Ensembl |
|
|
CA371052505 rs1236183522 |
451 | K>E | No |
ClinGen gnomAD |
|
|
rs1585679996 CA371052515 |
452 | D>A | No |
ClinGen Ensembl |
|
|
rs1484505834 CA371052518 |
452 | D>E | No |
ClinGen gnomAD |
|
|
rs1585679983 CA371052514 |
452 | D>Y | No |
ClinGen Ensembl |
|
|
CA4726825 rs764351730 |
453 | R>G | No |
ClinGen ExAC |
|
|
CA175923508 rs971551778 |
454 | S>I | No |
ClinGen TOPMed |
|
|
rs750624557 CA175923510 |
455 | R>C | No |
ClinGen Ensembl |
|
|
rs1419230409 CA371052535 |
455 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
No associated diseases with Q86UL3
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.15 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1-acylglycerol-3-phosphate O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + 1-acyl-sn-glycerol-3-phosphate = CoA + 1,2-diacyl-sn-glycerol-3-phosphate. |
| glycerol-3-phosphate O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + sn-glycerol 3-phosphate = CoA + 1-acyl-sn-glycerol 3-phosphate. |
| sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity | Catalysis of the reaction: hexadecanedioyl-CoA + sn-glycerol 3-phosphate = coenzyme A + 1-C16:0-alpha,omega-dicarboxyl-2-lysophosphatidate. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| acyl-CoA metabolic process | The chemical reactions and pathways involving acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with an acyl group. |
| CDP-diacylglycerol biosynthetic process | The chemical reactions and pathways resulting in the formation of CDP-diacylglycerol, CDP-1,2-diacylglycerol, a substance composed of diacylglycerol in glycosidic linkage with cytidine diphosphate. |
| diacylglycerol metabolic process | The chemical reactions and pathways involving diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group. |
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| glandular epithelial cell maturation | The developmental process, independent of morphogenetic (shape) change, that is required for a glandular epithelial cell to attain its fully functional state. A glandular epithelial cell is a columnar/cuboidal epithelial cell is a cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland. |
| lactation | The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. |
| lipid biosynthetic process | The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| phosphatidic acid biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
| phosphatidylcholine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
| regulation of multicellular organism growth | Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. |
| triglyceride biosynthetic process | The chemical reactions and pathways resulting in the formation of a triglyceride, any triester of glycerol. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A3FPG8 | GPAT4 | Glycerol-3-phosphate acyltransferase 4 | Bos taurus (Bovine) | PR |
| Q5ZLL8 | GPAT3 | Glycerol-3-phosphate acyltransferase 3 | Gallus gallus (Chicken) | PR |
| Q9Y679 | AUP1 | Lipid droplet-regulating VLDL assembly factor AUP1 | Homo sapiens (Human) | PR |
| Q8NF37 | LPCAT1 | Lysophosphatidylcholine acyltransferase 1 | Homo sapiens (Human) | PR |
| Q8C0N2 | Gpat3 | Glycerol-3-phosphate acyltransferase 3 | Mus musculus (Mouse) | PR |
| Q8K2C8 | Gpat4 | Glycerol-3-phosphate acyltransferase 4 | Mus musculus (Mouse) | PR |
| Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6PBN5 | aup1 | Lipid droplet-regulating VLDL assembly factor AUP1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A3KGT9 | agpat9l | Glycerol-3-phosphate acyltransferase 3-like | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFLLLPFDSL | IVNLLGISLT | VLFTLLLVFI | IVPAIFGVSF | GIRKLYMKSL | LKIFAWATLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MERGAKEKNH | QLYKPYTNGI | IAKDPTSLEE | EIKEIRRSGS | SKALDNTPEF | ELSDIFYFCR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KGMETIMDDE | VTKRFSAEEL | ESWNLLSRTN | YNFQYISLRL | TVLWGLGVLI | RYCFLLPLRI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALAFTGISLL | VVGTTVVGYL | PNGRFKEFMS | KHVHLMCYRI | CVRALTAIIT | YHDRENRPRN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GGICVANHTS | PIDVIILASD | GYYAMVGQVH | GGLMGVIQRA | MVKACPHVWF | ERSEVKDRHL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAKRLTEHVQ | DKSKLPILIF | PEGTCINNTS | VMMFKKGSFE | IGATVYPVAI | KYDPQFGDAF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WNSSKYGMVT | YLLRMMTSWA | IVCSVWYLPP | MTREADEDAV | QFANRVKSAI | ARQGGLVDLL |
| 430 | 440 | 450 | |||
| WDGGLKREKV | KDTFKEEQQK | LYSKMIVGNH | KDRSRS |