Q99943
PR
Gene name |
AGPAT1 (G15) |
Protein name |
1-acyl-sn-glycerol-3-phosphate acyltransferase alpha |
Names |
1-acylglycerol-3-phosphate O-acyltransferase 1, 1-AGP acyltransferase 1, 1-AGPAT 1, Lysophosphatidic acid acyltransferase alpha, LPAAT-alpha, Protein G15 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10554 |
EC number |
2.3.1.51: 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 Q99943
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99943-F1 | Predicted | AlphaFoldDB |
130 variants for Q99943
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136906249 rs529759736 |
5 | P>S | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1171950859 CA363498997 |
7 | A>V | No |
gnomAD ClinGen |
|
|
CA363498967 rs1445530362 |
9 | M>L | No |
TOPMed ClinGen |
|
|
rs759269879 CA363497975 |
11 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136906234 rs977923338 |
14 | L>P | No |
gnomAD ClinGen |
|
|
rs1487514646 CA363497872 |
17 | L>P | No |
gnomAD ClinGen |
|
|
CA3737638 rs760144285 |
24 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1277567457 CA363497682 |
28 | C>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1277567457 CA363497685 |
28 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA3737635 rs11964847 VAR_050593 |
30 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs769152569 CA3737633 |
31 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs769152569 CA3737634 |
31 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA3737632 rs749653275 |
37 | K>Q | No |
ExAC ClinGen |
|
|
rs1348935316 CA363497596 |
38 | M>V | No |
ClinGen TOPMed |
|
|
rs756914433 CA136906175 |
39 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
rs780487704 CA3737631 |
47 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1373851668 CA363497516 |
49 | A>D | No |
TOPMed ClinGen |
|
|
rs1170608309 CA363497510 |
50 | V>A | No |
gnomAD ClinGen |
|
|
CA363497501 rs1279346407 |
52 | A>T | No |
ClinGen TOPMed |
|
|
CA3737629 rs750516488 |
53 | I>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 57 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3737628 rs547166818 |
58 | V>M | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1423578165 CA363497456 |
59 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA3737626 rs200978599 |
63 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
COSM252329 CA3737625 rs765147808 |
64 | E>K | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1457777869 CA363497357 |
71 | L>V | No |
gnomAD ClinGen |
|
|
CA3737618 rs767062379 |
76 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs769277436 CA3737615 |
81 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3737616 rs775051881 |
81 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3737614 rs752064887 |
83 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363497151 rs1375159178 |
85 | E>D | No |
TOPMed ClinGen |
|
|
rs1330006904 CA363497157 |
85 | E>G | No |
TOPMed ClinGen |
|
|
rs1354009194 CA363497043 |
91 | H>L | No |
TOPMed gnomAD ClinGen |
|
|
rs867888606 CA136906077 |
93 | P>H | No |
gnomAD ClinGen |
|
|
rs867888606 CA363496997 |
93 | P>L | No |
gnomAD ClinGen |
|
|
CA363496969 rs1352581755 |
94 | P>R | No |
gnomAD ClinGen |
|
|
rs1240461196 CA363496984 |
94 | P>S | No |
ClinGen gnomAD |
|
|
CA3737613 rs775971995 |
95 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA3737610 rs781203974 |
96 | Q>E | No |
ExAC gnomAD ClinGen |
|
|
CA363496907 rs1386652159 |
97 | P>S | No |
gnomAD ClinGen |
|
|
CA3737608 rs747055100 |
98 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs1039133406 CA136906054 |
107 | S>C | No |
Ensembl ClinGen |
|
| TCGA novel | 113 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900277951 CA136905923 |
114 | M>I | No |
gnomAD ClinGen |
|
|
CA363496183 rs1340318719 |
120 | R>P | No |
gnomAD ClinGen |
|
|
rs1276655020 CA363496111 |
124 | I>L | No |
gnomAD ClinGen |
|
| TCGA novel | 127 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333740041 CA363495826 |
133 | G>A | No |
gnomAD ClinGen |
|
|
rs1398644029 CA363495686 |
138 | A>V | No |
gnomAD ClinGen |
|
|
rs1464996408 CA363495606 |
142 | A>T | No |
ClinGen gnomAD |
|
|
CA3737580 rs371326067 |
143 | G>E | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1164341942 CA363495480 |
148 | D>N | No |
TOPMed ClinGen |
|
|
rs1472994637 CA363495433 |
149 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363495363 rs1236603443 |
151 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363495361 rs1184868508 |
151 | R>H | No |
ClinGen gnomAD |
|
|
rs763726315 CA363495336 |
152 | T>K | No |
ExAC TOPMed ClinGen |
|
|
CA3737578 rs763726315 |
152 | T>M | No |
ClinGen ExAC TOPMed |
|
|
CA136905884 rs753269798 |
153 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753269798 CA3737576 |
153 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA136905883 rs995632838 |
154 | D>N | No |
TOPMed ClinGen |
|
|
rs765658820 CA3737575 |
157 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs1561845816 CA363495269 |
157 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 160 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363495193 rs1042001103 |
161 | E>K | No |
TOPMed ClinGen |
|
|
CA136905880 rs1042001103 |
161 | E>Q | No |
TOPMed ClinGen |
|
|
CA363495156 rs1256689246 |
163 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs962400353 CA136905863 |
169 | Q>* | No |
ClinGen TOPMed |
|
|
CA3737560 rs777508622 CA3737561 |
171 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1225793014 CA363494882 |
173 | V>F | No |
TOPMed ClinGen |
|
| TCGA novel | 174 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363494841 rs1226857091 |
175 | V>M | No |
gnomAD ClinGen |
|
|
rs1356176472 CA363494797 |
177 | P>S | No |
ClinGen gnomAD |
|
|
rs752223345 CA3737558 |
183 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs765822175 CA3737557 |
184 | N>K | No |
ExAC gnomAD ClinGen |
|
|
CA363494646 rs1295228923 |
184 | N>S | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 187 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363494478 rs1349120316 |
192 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA3737555 rs754331804 |
195 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA3737554 rs766659199 |
199 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1437282081 CA363494351 |
200 | Q>K | No |
gnomAD ClinGen |
|
|
rs760974670 CA3737553 |
201 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA3737552 rs778847928 |
202 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363494310 rs1346669885 |
202 | Q>R | No |
Ensembl ClinGen |
|
|
CA3737534 rs767772319 |
205 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA3737529 rs776489092 |
210 | M>I | No |
ExAC gnomAD ClinGen |
|
|
CA3737530 rs763029554 |
210 | M>L | No |
ExAC gnomAD ClinGen |
|
|
rs147585779 CA3737527 |
220 | K>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3737526 rs773164497 |
222 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174931612 CA363493574 |
223 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA3737525 rs771955233 |
224 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA136905666 rs149893502 |
225 | T>N | No |
ESP ClinGen |
|
| rs747761876 | 226 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs975811201 CA136905479 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1180646502 CA363493078 |
232 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA363491110 rs1237568347 |
238 | P>S | No |
gnomAD ClinGen |
|
|
COSM1443578 rs1193939291 CA363491017 |
239 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA136905453 rs867669239 |
247 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
| TCGA novel | 248 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363490664 rs1310981457 |
252 | D>H | No |
gnomAD ClinGen |
|
|
CA363490552 rs1331273987 |
255 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA363490557 rs1375429510 |
255 | R>W | No |
gnomAD ClinGen |
|
|
CA363490365 rs1582655409 |
260 | T>A | No |
Ensembl ClinGen |
|
|
rs760726399 CA3737509 |
261 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA363490281 rs139093368 |
263 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs987013114 CA136905441 |
263 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs139093368 CA3737508 |
263 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs967530858 CA136905435 |
265 | I>V | No |
TOPMed ClinGen |
|
|
CA3737507 rs747965391 |
267 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs747965391 CA3737506 |
267 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1246780410 CA363490078 |
269 | G>D | No |
TOPMed ClinGen |
|
|
rs773946115 CA363490069 |
270 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748794275 CA3737503 |
270 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748794275 CA3737504 |
270 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773946115 CA363490059 |
270 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779566214 CA3737502 |
271 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA136905408 rs957776755 |
273 | G>D | No |
Ensembl ClinGen |
|
|
rs1002261447 CA136905388 |
274 | D>G | No |
TOPMed ClinGen |
|
|
CA3737501 rs769257329 |
274 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA3737500 rs746381833 |
278 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757621954 CA3737498 |
279 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781622314 CA3737499 |
279 | P>T | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 281 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777896622 CA3737496 |
282 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3737495 rs375715875 |
284 | G>R | No |
ESP ExAC TOPMed ClinGen |
No associated diseases with Q99943
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.51 | 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. |
1 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. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| 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. |
| phospholipid metabolic process | The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| positive regulation of cytokine production | Any process that activates or increases the frequency, rate or extent of production of a cytokine. |
| positive regulation of cytokine-mediated signaling pathway | Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P33333 | SLC1 | 1-acyl-sn-glycerol-3-phosphate acyltransferase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q95JH2 | AGPAT1 | 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha | Bos taurus (Bovine) | PR |
| O15120 | AGPAT2 | 1-acyl-sn-glycerol-3-phosphate acyltransferase beta | Homo sapiens (Human) | PR |
| Q8K3K7 | Agpat2 | 1-acyl-sn-glycerol-3-phosphate acyltransferase beta | Mus musculus (Mouse) | PR |
| Q9LLY4 | BAT2 | 1-acyl-sn-glycerol-3-phosphate acyltransferase BAT2, chloroplastic | Brassica napus (Rape) | PR |
| Q8GXU8 | LPAT1 | 1-acyl-sn-glycerol-3-phosphate acyltransferase LPAT1, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDLWPGAWML | LLLLFLLLLF | LLPTLWFCSP | SAKYFFKMAF | YNGWILFLAV | LAIPVCAVRG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RNVENMKILR | LMLLHIKYLY | GIRVEVRGAH | HFPPSQPYVV | VSNHQSSLDL | LGMMEVLPGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CVPIAKRELL | WAGSAGLACW | LAGVIFIDRK | RTGDAISVMS | EVAQTLLTQD | VRVWVFPEGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RNHNGSMLPF | KRGAFHLAVQ | AQVPIVPIVM | SSYQDFYCKK | ERRFTSGQCQ | VRVLPPVPTE |
| 250 | 260 | 270 | 280 | ||
| GLTPDDVPAL | ADRVRHSMLT | VFREISTDGR | GGGDYLKKPG | GGG |