Q6ZWT7
PR
Gene name |
MBOAT2 |
Protein name |
Lysophospholipid acyltransferase 2 |
Names |
LPLAT 2, 1-acylglycerophosphate O-acyltransferase MBOAT2, 1-acylglycerophosphocholine O-acyltransferase MBOAT2, 1-acylglycerophosphoethanolamine MBOAT2 O-acyltransferase, Lysophosphatidic acid acyltransferase, LPAAT, Lyso-PA acyltransferase, Lysophosphatidylcholine acyltransferase, LPCAT, Lyso-PC acyltransferase, Lysophosphatidylcholine acyltransferase 4, Lyso-PC acyltransferase 4, Lysophosphatidylethanolamine acyltransferase, LPEAT, Lyso-PE acyltransferase, Membrane-bound O-acyltransferase domain-containing protein 2, O-acyltransferase domain-containing protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:129642 |
EC number |
2.3.1.23: 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 Q6ZWT7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZWT7-F1 | Predicted | AlphaFoldDB |
300 variants for Q6ZWT7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA345869861 rs1421696008 |
2 | A>V | No |
ClinGen TOPMed |
|
|
rs1479029193 CA345869840 |
6 | T>A | No |
ClinGen TOPMed |
|
|
CA345869831 rs1301742146 |
7 | T>K | No |
ClinGen gnomAD |
|
|
CA42403661 rs918042095 |
12 | L>M | No |
ClinGen TOPMed |
|
|
rs897661702 CA42403658 |
16 | S>I | No |
ClinGen Ensembl |
|
|
CA345869764 rs1573305700 |
18 | A>S | No |
ClinGen Ensembl |
|
|
CA345869752 rs1383027867 |
20 | Q>* | No |
ClinGen gnomAD |
|
|
CA345869733 rs1322874558 |
23 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767103005 CA1520982 |
27 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345869678 rs1404705372 |
29 | V>I | No |
ClinGen gnomAD |
|
|
CA1520981 rs183371237 |
30 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345869640 rs1573169338 |
34 | F>C | No |
ClinGen Ensembl |
|
|
CA345869616 rs766262429 |
38 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766262429 CA1520979 |
38 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA345869610 rs1391064421 |
39 | A>G | No |
ClinGen gnomAD |
|
|
CA345869607 rs1224836305 |
40 | I>V | No |
ClinGen TOPMed |
|
|
CA345869595 rs1328478095 |
41 | W>* | No |
ClinGen TOPMed |
|
|
rs1283836262 CA345869596 |
41 | W>L | No |
ClinGen TOPMed |
|
|
CA1520978 rs762776291 COSM1690186 |
43 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA345869581 rs1471364240 |
43 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345869583 rs1471364240 COSM173878 |
43 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs773061447 COSM1409932 CA1520977 |
44 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 46 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1520975 rs761829337 |
50 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142344615 CA1520974 |
51 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1520973 rs772211309 |
52 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345869460 rs1452378930 |
62 | L>V | No |
ClinGen gnomAD |
|
|
CA42376250 rs1050788947 |
65 | L>F | No |
ClinGen TOPMed |
|
|
rs1331382673 CA345869427 |
67 | L>F | No |
ClinGen gnomAD |
|
|
rs996102525 CA42376245 |
68 | A>S | No |
ClinGen TOPMed |
|
|
rs1385564922 CA345869177 |
76 | A>T | No |
ClinGen gnomAD |
|
|
rs766059198 CA1520961 |
76 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA345869142 rs750132753 |
81 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345869143 CA1520959 rs750132753 |
81 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765124323 CA1520958 |
83 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1296335320 CA345869092 |
88 | C>S | No |
ClinGen gnomAD |
|
|
CA345869056 rs1432487426 |
93 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1520953 rs774447645 |
98 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs759547712 CA1520954 |
98 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1520952 rs771093333 |
99 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs573728551 CA1520950 |
100 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1448699593 CA345868959 |
104 | V>L | No |
ClinGen gnomAD |
|
|
rs763981241 CA345868941 |
107 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930214033 CA42334257 |
108 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345868910 rs1178566481 |
112 | V>L | No |
ClinGen TOPMed |
|
|
CA345868896 rs1359949476 |
114 | Q>E | No |
ClinGen TOPMed |
|
|
rs766486740 CA1520935 |
115 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270536778 CA345868883 |
116 | T>S | No |
ClinGen Ensembl |
|
|
rs773540303 CA1520933 |
117 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345868859 rs1401088204 |
120 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 122 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42334202 rs992974796 |
122 | D>V | No |
ClinGen TOPMed |
|
|
rs376404172 CA1520932 |
123 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 124 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777109849 CA1520912 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777109849 CA345773004 |
133 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1520911 rs769179279 |
134 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1266910856 CA345772999 |
134 | M>V | No |
ClinGen gnomAD |
|
|
CA345772899 rs1266100719 |
141 | I>T | No |
ClinGen gnomAD |
|
|
CA345772881 rs1383159402 |
143 | S>G | No |
ClinGen gnomAD |
|
|
rs887184796 CA42371442 |
143 | S>N | No |
ClinGen TOPMed |
|
|
CA1520909 rs776086490 |
145 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs80260344 CA1520908 |
146 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA42371413 rs955335450 COSM276015 |
147 | E>K | lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1520906 rs778309710 |
148 | I>N | No |
ClinGen ExAC |
|
|
rs762953930 CA1520905 |
149 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1520904 rs748981866 |
150 | D>A | No |
ClinGen ExAC |
|
|
rs769441197 CA1520884 |
152 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs769441197 CA345772060 |
152 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs886764874 CA42366697 |
153 | F>C | No |
ClinGen TOPMed |
|
|
CA345772045 rs780868284 |
154 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1520882 rs780868284 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542141791 CA1520883 |
154 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs898759003 CA42366684 |
155 | K>N | No |
ClinGen Ensembl |
|
|
rs1189930692 CA345772004 |
160 | T>N | No |
ClinGen gnomAD |
|
|
rs1189930692 CA345772003 |
160 | T>S | No |
ClinGen gnomAD |
|
|
rs751489034 CA1520880 |
161 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1255310723 CA345771991 |
162 | S>L | No |
ClinGen gnomAD |
|
|
CA345771964 rs1484089150 |
166 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756373257 CA1520856 COSM1752722 |
170 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767912767 CA1520854 |
170 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767912767 CA345771122 |
170 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767912767 CA1520855 |
170 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572942641 CA345771093 |
173 | S>G | No |
ClinGen Ensembl |
|
|
CA1520852 rs751980590 |
173 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375049894 CA345771045 |
176 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139247880 CA1520850 |
177 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345770958 rs1345764386 |
181 | N>H | No |
ClinGen gnomAD |
|
|
rs764762344 CA1520848 |
185 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs149971409 CA1520847 |
187 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282610321 CA345770763 |
191 | P>S | No |
ClinGen TOPMed |
|
|
rs1483613032 CA345770678 |
196 | K>E | No |
ClinGen TOPMed |
|
|
CA42362233 rs987433418 |
199 | I>M | No |
ClinGen Ensembl |
|
|
CA345770598 rs1407741208 |
199 | I>S | No |
ClinGen gnomAD |
|
|
CA345770608 rs1558562999 |
199 | I>V | No |
ClinGen Ensembl |
|
|
rs768362605 CA1520845 |
200 | T>I | No |
ClinGen ExAC |
|
|
rs775452718 CA1520843 |
205 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1430758667 CA345770517 |
205 | R>S | No |
ClinGen TOPMed |
|
|
CA1520842 rs370566703 |
208 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745842248 CA1520841 |
209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777996869 CA1520840 |
212 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs756322066 CA1520839 |
213 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1520838 rs748274292 |
214 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1520837 rs374881990 |
219 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1520835 rs146137070 |
222 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345770219 rs1414149743 |
223 | E>K | No |
ClinGen gnomAD |
|
|
rs1158930325 CA345770188 |
225 | T>A | No |
ClinGen gnomAD |
|
|
rs1466100098 CA345770170 |
226 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345770149 rs1477606020 |
229 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1520817 rs747291673 |
231 | T>A | No |
ClinGen ExAC |
|
|
rs935685993 CA42359575 COSM282701 |
232 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1520815 rs34573615 |
233 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345770103 rs1572934220 |
235 | Q>E | No |
ClinGen Ensembl |
|
|
CA1520813 rs138674759 |
235 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345770077 rs757808251 |
238 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs933772053 CA42359509 |
240 | C>R | No |
ClinGen TOPMed |
|
|
CA42359504 rs943818831 |
244 | L>F | No |
ClinGen Ensembl |
|
|
CA1520809 rs760240347 |
248 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752456279 CA1520808 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345769999 rs1363454249 |
251 | C>S | No |
ClinGen gnomAD |
|
|
CA1520807 rs767292641 |
254 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1520806 rs759339947 |
257 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1370170719 CA345769934 |
260 | I>T | No |
ClinGen gnomAD |
|
|
rs774317615 CA1520805 |
263 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1420346617 CA345769895 |
265 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345769883 rs1181408333 |
267 | T>S | No |
ClinGen gnomAD |
|
|
CA345769877 rs1279626680 |
268 | A>D | No |
ClinGen TOPMed |
|
|
CA1520804 rs770723802 |
268 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3714318 rs1036871251 CA42359442 |
269 | S>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs762996415 CA1520803 |
271 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1520802 rs202062819 |
272 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768843029 CA1520801 |
274 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295645885 CA345769829 |
275 | I>M | No |
ClinGen gnomAD |
|
|
CA345769831 rs1308694066 |
275 | I>T | No |
ClinGen gnomAD |
|
|
CA42359394 rs909838545 |
278 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 281 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1520797 rs772283165 |
283 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA42359379 rs959389480 |
284 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs959389480 CA345769728 |
284 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345769663 rs1355379840 |
288 | Y>* | No |
ClinGen gnomAD |
|
|
rs1463702398 CA345769673 |
288 | Y>N | No |
ClinGen gnomAD |
|
|
CA1520795 rs779386481 |
293 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756721934 CA1520771 |
299 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1001222633 CA42355528 |
300 | N>S | No |
ClinGen gnomAD |
|
|
CA1520770 rs747611257 |
303 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1434549608 CA345768774 |
307 | R>G | No |
ClinGen gnomAD |
|
|
CA1520769 rs780896584 |
309 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA345768749 rs1387071211 |
309 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 310 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1520766 rs555195886 |
311 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA42355481 rs994204301 |
313 | G>E | No |
ClinGen Ensembl |
|
|
CA1520765 rs758151598 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1520764 rs750186080 |
316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1520762 rs764306370 |
316 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1520763 rs764306370 |
316 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345768576 rs1558552993 |
321 | S>P | No |
ClinGen Ensembl |
|
|
CA345768497 rs1259496946 |
327 | Q>E | No |
ClinGen gnomAD |
|
|
rs775520528 CA1520761 |
329 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42351805 rs1036127335 |
330 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1520735 rs535727689 |
332 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753835262 CA1520734 |
332 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 333 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764032416 CA1520733 |
335 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1520732 rs187474422 |
336 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345767501 rs187474422 |
336 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185719727 CA345767441 |
339 | D>G | No |
ClinGen gnomAD |
|
|
CA345767448 rs1237633861 |
339 | D>N | No |
ClinGen TOPMed |
|
|
CA1520730 rs766577470 |
343 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1181236164 CA345767338 |
344 | Q>R | No |
ClinGen gnomAD |
|
|
rs1287898993 CA345767311 |
345 | T>I | No |
ClinGen TOPMed |
|
|
rs150340101 CA1520704 |
352 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454776174 CA345766613 |
354 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs893319735 CA42350177 |
355 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA42350171 rs140299461 |
356 | R>* | No |
ClinGen ESP gnomAD |
|
|
CA42350158 rs7602744 |
356 | R>Q | No |
ClinGen gnomAD |
|
|
CA42350151 rs779729146 |
357 | T>N | No |
ClinGen gnomAD |
|
|
rs374729581 CA1520702 |
362 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374729581 CA42350146 |
362 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770604969 CA1520701 |
364 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs749037038 CA1520700 |
365 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA345766525 rs1269471153 |
368 | L>F | No |
ClinGen gnomAD |
|
|
CA1520695 rs755930105 |
371 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202137034 CA42350084 |
374 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 378 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 379 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1520693 rs765515703 |
380 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1175766245 CA345766413 |
385 | T>I | No |
ClinGen gnomAD |
|
|
rs371168348 CA42350020 CA1520689 |
387 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371168348 CA345766404 |
387 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345766389 rs1264934923 |
389 | M>T | No |
ClinGen TOPMed |
|
|
CA1520688 rs761232552 |
391 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA1520687 rs377425211 |
392 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA42349990 rs913159299 |
393 | A>G | No |
ClinGen Ensembl |
|
|
CA1520686 rs768074188 |
393 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 399 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769487017 CA1520659 |
400 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA345766292 rs1403808594 |
402 | H>N | No |
ClinGen TOPMed |
|
|
rs901167253 CA42348162 |
402 | H>R | No |
ClinGen TOPMed |
|
|
CA1520658 rs747857607 |
403 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345766251 rs1274989492 |
404 | F>L | No |
ClinGen gnomAD |
|
|
rs1558543387 CA345766220 |
407 | P>T | No |
ClinGen Ensembl |
|
|
CA1520657 rs776506086 |
408 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1520656 rs371335603 |
409 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345766164 rs146795028 |
411 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146795028 CA1520655 |
411 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 413 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232812855 CA345766091 |
415 | D>G | No |
ClinGen TOPMed |
|
|
rs1282556293 CA345766067 |
417 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345766005 rs1374380000 |
420 | I>T | No |
ClinGen gnomAD |
|
|
rs779124430 CA1520654 |
420 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757355387 CA1520653 |
423 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA345765955 rs561333784 |
423 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1520651 rs376215272 |
426 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 437 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982755029 CA42348088 |
440 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs143839710 CA1520648 |
442 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143839710 CA345765656 |
442 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1520647 rs139368884 |
443 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996647128 CA42348059 |
444 | F>V | No |
ClinGen Ensembl |
|
|
CA1520645 rs766881306 |
446 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs780495167 CA1520625 |
446 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA345765576 rs766881306 |
446 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA345764857 rs1350389046 |
448 | W>* | No |
ClinGen gnomAD |
|
|
CA345764850 rs1572899219 |
448 | W>C | No |
ClinGen Ensembl |
|
|
CA345764793 rs1304961489 |
451 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1256633766 CA345764802 |
451 | C>R | No |
ClinGen gnomAD |
|
|
rs1226877825 CA345764771 |
453 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1520624 rs150735455 |
454 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1033482064 CA42346154 |
455 | L>V | No |
ClinGen Ensembl |
|
|
CA345764672 rs1383087390 |
458 | L>F | No |
ClinGen gnomAD |
|
|
rs749877859 CA1520623 |
458 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458494185 CA345764651 |
460 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199729641 CA1520622 |
461 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138658930 CA1520621 |
464 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1520620 rs753475039 |
465 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376965890 CA345764555 |
466 | K>E | No |
ClinGen gnomAD |
|
|
rs1558541367 CA345764521 |
467 | K>R | No |
ClinGen Ensembl |
|
|
rs201954366 CA1520617 |
468 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs962806227 | 468 | T>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558541331 CA345764504 |
468 | T>N | No |
ClinGen Ensembl |
|
|
CA345764491 rs1172489685 |
469 | Q>P | No |
ClinGen gnomAD |
|
|
rs1256517489 CA345764461 |
471 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345764430 rs1486775223 |
472 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345764404 rs1424859249 |
474 | T>I | No |
ClinGen gnomAD |
|
|
CA1520615 rs759562992 |
475 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs528858533 CA42346076 |
475 | H>Y | No |
ClinGen gnomAD |
|
|
rs1047514599 CA42346057 |
476 | E>K | No |
ClinGen Ensembl |
|
|
CA345764349 rs1558541249 |
477 | N>K | No |
ClinGen Ensembl |
|
|
rs1253547278 CA345764274 |
482 | Q>* | No |
ClinGen gnomAD |
|
|
CA345764235 rs1219756001 |
484 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA42346052 rs138609923 |
484 | K>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 484 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372386739 CA1520614 |
486 | F>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1426532743 CA345764162 |
487 | D>E | No |
ClinGen TOPMed |
|
|
rs140635509 CA1520613 |
487 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748187209 CA1520612 |
488 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146784263 CA1520610 |
489 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781320747 CA1520611 |
489 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42346020 rs201263458 |
491 | N>S | No |
ClinGen gnomAD |
|
|
CA345764089 rs1466050709 |
492 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs148555544 CA1520608 |
493 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1520606 rs746452770 |
494 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1520605 rs369922486 |
495 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191224515 CA345763984 |
497 | S>T | No |
ClinGen gnomAD |
|
|
CA1520604 rs756721748 |
498 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1381965128 CA345763932 |
500 | T>A | No |
ClinGen TOPMed |
|
|
rs16866827 CA1520603 VAR_030068 |
501 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755883588 CA1520601 |
502 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763791764 CA1520602 |
502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA345763873 rs1273987581 |
503 | N>D | No |
ClinGen TOPMed |
|
|
rs1340168000 CA345763869 |
503 | N>S | No |
ClinGen TOPMed |
|
|
rs1572898612 CA345763841 |
505 | C>Y | No |
ClinGen Ensembl |
|
|
rs143390233 CA1520597 |
506 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143390233 CA1520596 |
506 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112413155 CA42345945 |
507 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 510 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1520595 rs184069582 |
511 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574002894 CA1520594 |
513 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345763688 rs1558540966 |
513 | S>P | No |
ClinGen Ensembl |
|
|
CA1520593 rs574002894 |
513 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1520591 rs749156955 |
514 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1520590 rs747272456 |
515 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393567651 CA345763630 |
517 | S>A | No |
ClinGen gnomAD |
|
|
CA345763593 rs1323813442 |
519 | K>T | No |
ClinGen gnomAD |
|
|
CA42345880 rs201166810 |
520 | Q>H | No |
ClinGen gnomAD |
|
|
CA1520589 rs775578013 |
521 | Q>G | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q6ZWT7
[MIM: 613625]: Factor V and factor VIII combined deficiency 2 (F5F8D2)
A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:18590741, ECO:0000269|PubMed:18685427, ECO:0000269|PubMed:20491958}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:18590741, ECO:0000269|PubMed:18685427, ECO:0000269|PubMed:20491958}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q6ZWT7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Synaptotagmin-like mitochondrial-lipid-binding domain | 1 - 195 | IPR031468 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.23 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
6 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. |
| 1-acylglycerophosphocholine O-acyltransferase activity | Catalysis of the reaction: 1-acyl-sn-glycero-3-phosphocholine + acyl-CoA = phosphatidylcholine + CoA. |
| 1-acylglycerophosphoethanolamine O-acyltransferase activity | Catalysis of the reaction: a 1-acyl-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CoA. |
| 1-acylglycerophosphoserine O-acyltransferase activity | Catalysis of the reaction:a 1-acyl-sn-glycero-3-phospho-L-serine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phospho-L-serine + CoA. |
| 2-acylglycerol-3-phosphate O-acyltransferase activity | Catalysis of the reaction: 2-acyl-sn-glycerol 3-phosphate + acyl-CoA = L-phosphatidate + CoA. |
| acyltransferase activity | Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid modification | The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. |
| phosphatidylcholine acyl-chain remodeling | Remodeling the acyl chains of phosphatidylcholine, through sequential deacylation and re-acylation reactions, to generate phosphatidylcholine containing different types of fatty acid acyl chains. |
| phosphatidylethanolamine acyl-chain remodeling | Remodeling the acyl chains of phosphatidylethanolamine, through sequential deacylation and re-acylation reactions, to generate phosphatidylethanolamine containing different types of fatty acid acyl chains. |
| phosphatidylserine acyl-chain remodeling | Remodeling the acyl chains of phosphatidylserine, through sequential deacylation and re-acylation reactions, to generate phosphatidylserine containing different types of fatty acid acyl chains. |
| phospholipid biosynthetic process | The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester. |
| regulation of chondrocyte differentiation | Any process that modulates the frequency, rate or extent of chondrocyte differentiation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6ZNC8 | MBOAT1 | Lysophospholipid acyltransferase 1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATTSTTGST | LLQPLSNAVQ | LPIDQVNFVV | CQLFALLAAI | WFRTYLHSSK | TSSFIRHVVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLLGLYLALF | CFGWYALHFL | VQSGISYCIM | IIIGVENMHN | YCFVFALGYL | TVCQVTRVYI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FDYGQYSADF | SGPMMIITQK | ITSLACEIHD | GMFRKDEELT | SSQRDLAVRR | MPSLLEYLSY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NCNFMGILAG | PLCSYKDYIT | FIEGRSYHIT | QSGENGKEET | QYERTEPSPN | TAVVQKLLVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLSLLFHLTI | CTTLPVEYNI | DEHFQATASW | PTKIIYLYIS | LLAARPKYYF | AWTLADAINN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AAGFGFRGYD | ENGAARWDLI | SNLRIQQIEM | STSFKMFLDN | WNIQTALWLK | RVCYERTSFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PTIQTFILSA | IWHGVYPGYY | LTFLTGVLMT | LAARAMRNNF | RHYFIEPSQL | KLFYDVITWI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VTQVAISYTV | VPFVLLSIKP | SLTFYSSWYY | CLHILGILVL | LLLPVKKTQR | RKNTHENIQL |
| 490 | 500 | 510 | |||
| SQSKKFDEGE | NSLGQNSFST | TNNVCNQNQE | IASRHSSLKQ |