P35610
PR
Gene name |
SOAT1 |
Protein name |
Sterol O-acyltransferase 1 |
Names |
Acyl-coenzyme A:cholesterol acyltransferase 1, ACAT-1, Cholesterol acyltransferase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6646 |
EC number |
2.3.1.26: 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
400 variants for P35610
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs770468102 CA1265338 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs765009104 CA343840844 |
3 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183578269 CA1265340 |
3 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765009104 CA343840842 |
3 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265339 rs183578269 |
3 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765009104 CA1265341 |
3 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343840858 rs1486197741 |
4 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775151088 CA1265342 |
6 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA33937820 rs940472797 COSM1195287 CA343840906 |
7 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs763188425 CA1265343 |
9 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1265345 rs143615604 |
12 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1265344 rs748380721 |
12 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs79670335 CA33937856 |
14 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 15 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326828075 CA343841041 |
19 | N>K | No |
ClinGen gnomAD |
|
|
rs756696042 CA1265350 |
20 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265351 rs780506061 |
23 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA33937903 rs979462965 |
23 | D>N | No |
ClinGen Ensembl |
|
|
CA1265352 rs780506061 |
23 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs995944944 CA33937925 |
26 | Q>K | No |
ClinGen TOPMed |
|
|
CA33937932 rs144851572 |
27 | R>K | No |
ClinGen Ensembl |
|
|
CA343841149 rs141021552 |
28 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1265354 rs141021552 |
28 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746724685 CA1265355 |
30 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs368576893 CA1265356 |
32 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144539757 CA1265357 |
33 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775316827 CA1265360 |
36 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs144927520 CA1265395 |
41 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs780793669 CA343541115 |
41 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM900234 CA1265396 rs780793669 |
41 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 42 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750126883 CA1265397 |
43 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs755609390 CA1265398 |
44 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA343541309 rs1333376282 |
49 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1265400 rs749116506 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM900235 rs754959782 CA1265401 |
51 | K>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1265402 rs556936119 |
52 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1265404 rs772029317 |
55 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758250809 CA1265421 |
60 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1265422 rs565424121 |
61 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747161546 CA1265423 |
63 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA343545546 rs1363802784 |
67 | K>R | No |
ClinGen gnomAD |
|
|
CA1265425 rs377234175 |
69 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 72 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343545651 rs1280832101 |
76 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343545700 rs1185834306 |
81 | I>L | No |
ClinGen TOPMed |
|
|
rs1304216856 CA343545706 |
81 | I>T | No |
ClinGen Ensembl |
|
|
CA1265429 rs368639297 |
82 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377668811 CA343545735 |
83 | K>N | No |
ClinGen gnomAD |
|
|
rs1216090614 CA343545749 |
85 | A>T | No |
ClinGen TOPMed |
|
|
rs760199455 CA343545759 CA1265433 |
86 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265432 rs774714964 |
86 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265434 rs766090549 |
89 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754486749 CA1265436 |
90 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1558052018 CA343545817 |
91 | G>A | No |
ClinGen Ensembl |
|
|
CA343545810 rs1195097170 |
91 | G>R | No |
ClinGen gnomAD |
|
|
CA1265437 rs764894142 |
92 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs147328204 CA343545829 |
92 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1265438 rs201535711 |
92 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA343545833 rs143261487 COSM1336683 |
93 | A>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1265440 rs143261487 |
93 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1265441 rs751392105 |
93 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343545842 rs1454411531 |
94 | L>V | No |
ClinGen gnomAD |
|
|
CA343545858 rs1177292360 |
95 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752990892 CA33628608 |
102 | G>R | No |
ClinGen Ensembl |
|
|
rs1460933815 CA343545962 |
105 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1265444 rs746135822 |
106 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1265445 rs769913020 |
107 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265446 rs780116186 |
107 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1265447 rs376493004 |
109 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1265448 rs369205138 |
109 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1465886669 CA343546054 |
110 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272007528 CA343546089 |
114 | A>T | No |
ClinGen gnomAD |
|
|
rs1321784346 CA343546100 |
115 | P>S | No |
ClinGen gnomAD |
|
|
CA1265469 rs779450665 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343546126 rs1178872422 |
118 | Q>K | No |
ClinGen TOPMed |
|
|
CA1265471 rs772475749 |
118 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265473 rs759170049 |
121 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775098549 CA1265475 |
124 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1265476 rs762519468 |
126 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM900238 CA1265477 rs763756831 |
126 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1043232059 CA33629905 |
128 | L>V | No |
ClinGen gnomAD |
|
|
CA343546854 rs1164031580 |
136 | D>E | No |
ClinGen TOPMed |
|
|
CA33634046 rs371045184 |
137 | H>Y | No |
ClinGen ESP |
|
|
rs931843513 CA33634050 |
141 | I>V | No |
ClinGen Ensembl |
|
|
CA1265496 rs775270656 |
143 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1469411152 CA343546908 |
144 | M>R | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343546936 rs1361738880 |
148 | L>F | No |
ClinGen TOPMed |
|
|
CA1265498 rs376220787 |
148 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343546945 rs1240508587 |
150 | I>L | No |
ClinGen gnomAD |
|
|
CA343546946 rs1240508587 |
150 | I>V | No |
ClinGen gnomAD |
|
|
rs768145911 CA1265499 |
151 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265501 rs761764213 |
152 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA343546973 rs1278309596 |
154 | L>F | No |
ClinGen gnomAD |
|
|
rs1443504146 CA343546974 |
154 | L>H | No |
ClinGen gnomAD |
|
|
rs1212789520 CA343546986 |
156 | T>A | No |
ClinGen gnomAD |
|
|
rs773245016 CA1265503 |
158 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA33634100 rs200941112 |
158 | V>I | No |
ClinGen 1000Genomes |
|
|
CA33634119 rs923874957 |
160 | D>E | No |
ClinGen TOPMed |
|
|
rs760443408 CA1265504 |
160 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343547008 rs1179540866 |
160 | D>H | No |
ClinGen gnomAD |
|
|
rs139048928 CA1265505 |
161 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 161 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374646446 CA1265506 |
162 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343547030 rs1558054020 |
163 | D>G | No |
ClinGen Ensembl |
|
|
rs1402570422 CA343547026 |
163 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759705139 CA1265525 |
167 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs765408274 CA1265526 |
168 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA33635249 rs892094540 |
170 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762917640 CA1265528 |
170 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA343547103 rs1453492683 |
173 | L>V | No |
ClinGen gnomAD |
|
|
rs1262118517 CA343547111 |
174 | L>P | No |
ClinGen gnomAD |
|
|
rs1343384500 CA343547144 |
179 | G>D | No |
ClinGen Ensembl |
|
|
CA343547151 rs1415113163 |
180 | K>R | No |
ClinGen gnomAD |
|
|
CA1265533 rs368290102 |
181 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471629082 CA343547158 |
181 | F>Y | No |
ClinGen TOPMed |
|
|
CA1265534 rs756545451 |
182 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343547164 rs1230944302 |
182 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1227083 CA1265535 rs370264806 |
184 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1340231618 CA343547191 |
186 | W>C | No |
ClinGen gnomAD |
|
|
CA1265536 rs376626862 |
186 | W>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343547206 rs1280611616 |
188 | W>* | No |
ClinGen gnomAD |
|
|
CA1265537 rs771476003 |
189 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA1265538 rs777266522 |
190 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1265539 rs777266522 |
190 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770874506 CA1265540 |
191 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343547221 rs1217733898 |
191 | M>V | No |
ClinGen gnomAD |
|
|
rs374890620 CA1265541 |
192 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1265543 rs201433682 |
194 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775560545 CA343547249 |
195 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775560545 CA1265544 |
195 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265546 rs111426580 |
198 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000961325 CA1265550 rs73048613 |
204 | Q>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1265551 rs756425178 |
205 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780531503 CA1265552 |
210 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1197337727 CA343547361 |
212 | K>E | No |
ClinGen gnomAD |
|
|
rs752221497 TCGA novel CA1265553 |
212 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA33635447 rs368377878 |
215 | H>R | No |
ClinGen ESP TOPMed |
|
|
rs1005853782 CA33635425 |
215 | H>Y | No |
ClinGen Ensembl |
|
|
rs374800485 CA1265554 |
216 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343547389 rs1313547768 |
216 | P>S | No |
ClinGen gnomAD |
|
|
CA343547403 rs1308764115 |
218 | I>M | No |
ClinGen gnomAD |
|
|
rs200854667 CA1265556 |
219 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770466169 CA1265557 |
219 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343547416 rs1247033496 |
221 | L>F | No |
ClinGen TOPMed |
|
|
rs574416200 CA33635474 |
222 | F>L | No |
ClinGen 1000Genomes |
|
|
CA33635478 rs201816938 |
223 | H>Y | No |
ClinGen TOPMed |
|
|
rs1277880240 CA343547448 |
226 | L>V | No |
ClinGen gnomAD |
|
|
CA1265558 rs781085852 |
227 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA343547463 rs1200910072 |
228 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs147517008 CA1265559 |
228 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343547462 rs1200910072 |
228 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1222354594 CA343547490 |
231 | Q>H | No |
ClinGen TOPMed |
|
|
rs769409695 CA1265560 |
232 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA33635517 rs112851733 |
237 | F>V | No |
ClinGen Ensembl |
|
|
CA1265563 rs769032189 |
238 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1265564 rs142821895 |
240 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343547543 rs1299773812 |
240 | T>I | No |
ClinGen TOPMed |
|
|
CA1265566 rs761965318 |
241 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs761965318 CA1265565 |
241 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA1265567 rs372072220 |
242 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343547571 rs1444628647 |
245 | A>E | No |
ClinGen gnomAD |
|
|
rs766591286 CA1265569 |
246 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265570 rs754249728 |
247 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1265571 rs757944840 |
250 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343547603 rs1384524973 |
251 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs989062269 CA33635611 |
252 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233928617 CA343547614 |
253 | R>Q | No |
ClinGen gnomAD |
|
|
rs986300338 CA33635620 |
253 | R>W | No |
ClinGen gnomAD |
|
|
rs376114650 CA33635633 |
255 | I>V | No |
ClinGen ESP |
|
|
CA1265573 rs751259141 |
256 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756746164 CA1265574 |
257 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1458823797 CA343547653 |
259 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1265576 rs576506617 |
259 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1458823797 CA343547651 |
259 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs199970700 COSM1668241 CA1265599 |
262 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1336685 CA1265600 rs749244142 |
262 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199970700 CA1265598 |
262 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202007462 CA1265601 |
263 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778858683 CA1265602 |
263 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1265603 rs377111660 |
264 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772441144 CA1265604 |
265 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA343547823 rs1487511380 |
267 | A>G | No |
ClinGen gnomAD |
|
|
rs1432510384 CA343547819 |
267 | A>T | No |
ClinGen TOPMed |
|
|
rs1487511380 CA343547825 |
267 | A>V | No |
ClinGen gnomAD |
|
|
CA343547841 rs1264555055 |
268 | H>P | No |
ClinGen gnomAD |
|
|
CA343547840 rs1264555055 |
268 | H>R | No |
ClinGen gnomAD |
|
|
rs1180193439 CA343547857 |
269 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770964922 CA1265607 |
274 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1265609 rs370657936 |
275 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770077356 CA1265610 |
276 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761415537 CA1265612 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775855970 CA1265611 |
277 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1362414322 CA343547960 |
278 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343547964 rs1362414322 |
278 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1265614 rs750093837 |
279 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1265613 rs374741883 |
279 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760222780 CA1265615 |
283 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343548040 rs1352462069 COSM1747976 |
284 | E>D | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs143353203 CA1265617 |
286 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1265637 rs370413295 |
287 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1441879687 CA343548163 |
288 | T>I | No |
ClinGen TOPMed |
|
|
CA1265638 rs759503259 |
288 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1476902281 CA343548186 |
290 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1265640 rs143910632 |
291 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765233196 CA1265639 |
291 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470875189 CA343548212 |
293 | T>A | No |
ClinGen gnomAD |
|
|
rs777494982 CA1265642 |
297 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265641 rs375449371 |
297 | Y>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375449371 CA343548263 |
297 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343548323 rs1337953185 |
301 | L>V | No |
ClinGen gnomAD |
|
|
rs1571450383 CA343548392 |
306 | L>F | No |
ClinGen Ensembl |
|
|
rs757433399 CA1265644 |
306 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA1265645 rs781209163 |
308 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs372401248 CA1265646 |
309 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1265647 rs149997059 |
309 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780527908 CA1265648 |
314 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343548737 rs1274947812 |
316 | P>L | No |
ClinGen TOPMed |
|
|
CA343548734 rs756184514 |
316 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756184514 CA1265666 |
316 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33637276 rs1054393315 |
317 | T>A | No |
ClinGen TOPMed |
|
|
rs1490770018 CA343548764 |
320 | W>C | No |
ClinGen gnomAD |
|
|
CA343548779 rs1214421297 |
323 | V>I | No |
ClinGen gnomAD |
|
|
CA343548786 rs141826063 |
324 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1265669 rs141826063 |
324 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1361619517 CA343548787 |
324 | A>V | No |
ClinGen TOPMed |
|
|
CA1265670 rs376707148 |
325 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33637291 rs148129910 |
326 | K>N | No |
ClinGen ESP TOPMed |
|
|
CA343548806 rs1472296116 |
327 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1265671 rs141948091 |
328 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343548820 rs1366629001 |
329 | Q>* | No |
ClinGen gnomAD |
|
|
rs1219983368 CA343548854 |
332 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748308938 CA33638127 |
332 | G>S | No |
ClinGen Ensembl |
|
|
CA1265684 rs766400516 |
335 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA33638156 rs753899804 |
336 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33638141 rs968954376 |
336 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343548883 rs968954376 |
336 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1265686 rs755121188 |
337 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1265687 rs779262697 |
338 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA343548893 rs1241149457 |
338 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1265688 rs748744485 |
339 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343548906 rs1344159095 |
340 | I>V | No |
ClinGen gnomAD |
|
|
rs1571453229 CA343548937 |
344 | L>I | No |
ClinGen Ensembl |
|
|
CA1265690 rs778286126 |
345 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 346 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177616079 CA343548952 |
346 | A>V | No |
ClinGen gnomAD |
|
|
rs745458748 CA1265691 |
348 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs143616084 CA1265693 |
350 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1265692 rs373499557 |
350 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1265694 rs748726759 |
353 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA33638215 rs1032516109 |
354 | Q>* | No |
ClinGen TOPMed |
|
|
rs774152912 CA1265696 |
354 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011212698 CA33638230 |
355 | E>D | No |
ClinGen TOPMed |
|
|
CA33638233 rs992472174 |
356 | P>L | No |
ClinGen TOPMed |
|
|
rs377664266 CA1265698 |
357 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1265699 rs773016778 |
358 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA343549064 rs1298873203 |
359 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772270018 CA1265701 |
360 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1265702 rs201233803 |
360 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343549077 rs201233803 |
360 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343549081 rs759518574 |
361 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265703 rs759518574 |
361 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265704 rs765422379 |
362 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778233269 CA343549121 |
365 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1265707 rs778233269 |
365 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1265708 rs752004277 |
368 | N>K | No |
ClinGen ExAC TOPMed |
|
|
rs757746003 CA1265709 |
369 | S>T | No |
ClinGen ExAC |
|
|
rs1433173838 CA343549183 |
370 | I>V | No |
ClinGen gnomAD |
|
|
CA343549201 rs1431593279 |
371 | L>F | No |
ClinGen gnomAD |
|
|
CA1265710 rs145948480 |
371 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776497537 CA1265737 |
381 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA343549575 rs1180137491 |
383 | A>S | No |
ClinGen gnomAD |
|
|
CA343549576 rs1384876932 |
383 | A>V | No |
ClinGen gnomAD |
|
|
CA343549580 rs1165253075 |
384 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 385 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378236359 CA343549593 |
385 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1222153452 CA343549598 COSM1491868 |
386 | H>R | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1159705458 CA343549633 |
391 | A>T | No |
ClinGen gnomAD |
|
|
CA1265739 rs770086806 |
391 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343549658 rs1325955104 |
394 | E>D | No |
ClinGen TOPMed |
|
|
rs141816822 CA1265740 |
395 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1265741 rs763111582 |
397 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343549676 rs763111582 |
397 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564980586 CA1265742 |
397 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1265743 rs774930953 |
402 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1265744 rs201663121 |
404 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343549737 rs1223760182 |
405 | K>N | No |
ClinGen gnomAD |
|
|
rs1256424854 CA343549807 |
406 | D>G | No |
ClinGen gnomAD |
|
|
CA343549834 rs1182293507 |
408 | W>* | No |
ClinGen gnomAD |
|
|
CA343549872 rs1477026533 |
411 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1265769 rs773637616 |
415 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1265768 rs768033670 |
415 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1265771 rs201846105 |
416 | Y>C | No |
ClinGen 1000Genomes ExAC |
|
|
CA343549919 rs1269690676 |
416 | Y>H | No |
ClinGen TOPMed |
|
|
CA343549938 rs1228559047 COSM1626655 |
417 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA343549975 rs1272529507 |
420 | W>C | No |
ClinGen TOPMed |
|
|
CA343549988 rs536995324 |
421 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762609529 CA1265775 |
425 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA343550055 rs1333378299 |
427 | W>C | No |
ClinGen TOPMed |
|
|
CA343550070 rs1558059484 |
429 | Y>C | No |
ClinGen Ensembl |
|
|
rs1283189925 CA343550080 |
430 | Y>C | No |
ClinGen gnomAD |
|
|
rs144741678 CA1265776 |
431 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276339264 CA343550109 |
434 | K>M | No |
ClinGen gnomAD |
|
|
rs1457100527 CA343550113 |
435 | D>N | No |
ClinGen TOPMed |
|
|
rs1043327275 CA33640551 |
437 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343550156 rs1490834779 |
439 | F>V | No |
ClinGen gnomAD |
|
|
CA343550174 rs1214321641 |
441 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33641446 rs951136603 |
442 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs978618598 CA33641447 |
443 | R>I | No |
ClinGen TOPMed |
|
|
CA1265794 rs762555067 |
444 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs763705538 CA1265795 |
447 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1447066071 CA343550210 |
447 | A>T | No |
ClinGen gnomAD |
|
|
rs763705538 CA1265796 |
447 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343550216 rs1340264065 |
448 | A>P | No |
ClinGen gnomAD |
|
|
rs766940039 CA1265798 |
449 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1265797 rs150470891 |
449 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33641496 rs201061414 |
451 | A>D | No |
ClinGen Ensembl |
|
|
rs1427150674 CA343550235 |
451 | A>P | No |
ClinGen gnomAD |
|
|
rs750316070 CA1265799 |
452 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756140258 CA1265800 |
454 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA343550258 rs1285606875 |
455 | V>L | No |
ClinGen gnomAD |
|
|
rs371679360 CA1265801 |
456 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149189812 CA1265802 |
458 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368549623 CA343550289 COSM247511 |
460 | H>R | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs779259418 CA1265804 |
461 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA343550326 rs1361326105 |
465 | A>V | No |
ClinGen gnomAD |
|
|
CA343550332 rs1236866460 |
466 | V>A | No |
ClinGen gnomAD |
|
|
rs192965293 CA1265805 |
472 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1265806 rs745424958 |
474 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265809 rs771461243 |
477 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs922441842 CA33641557 |
478 | L>F | No |
ClinGen TOPMed |
|
|
CA343550427 CA343550429 rs1286523167 |
480 | M>I | No |
ClinGen Ensembl |
|
|
CA343550425 rs1446804737 |
480 | M>T | No |
ClinGen gnomAD |
|
|
rs777164093 CA1265810 |
480 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322343850 CA343550469 |
484 | M>I | No |
ClinGen TOPMed |
|
|
rs770202251 CA1265813 |
484 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs138504513 CA1265827 |
489 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781656140 CA1265829 |
491 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 494 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770085650 CA1265831 |
494 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265832 rs139216715 |
495 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 496 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343550559 rs747795183 |
497 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1265833 rs747795183 |
497 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs957160912 CA33642037 |
497 | P>S | No |
ClinGen TOPMed |
|
|
rs1571461414 CA343550564 |
498 | I>T | No |
ClinGen Ensembl |
|
|
rs1417901580 CA343550600 |
503 | M>I | No |
ClinGen TOPMed |
|
|
rs766049026 CA1265837 |
503 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343550610 rs1281962166 |
504 | W>C | No |
ClinGen gnomAD |
|
|
CA343550622 rs1382664228 |
506 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 509 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207669335 CA343550648 |
510 | G>D | No |
ClinGen gnomAD |
|
|
CA343550651 rs1267388132 |
511 | N>H | No |
ClinGen gnomAD |
|
|
CA1265839 rs776647920 |
513 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343550681 rs1251385472 |
515 | L>P | No |
ClinGen TOPMed |
|
|
rs1200257189 CA343550684 |
516 | C>R | No |
ClinGen gnomAD |
|
|
CA1265841 rs765036429 |
516 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA343550691 rs1427001358 |
517 | F>L | No |
ClinGen gnomAD |
|
|
CA1265842 rs752469033 |
519 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1265843 rs752469033 |
519 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1463340717 CA343550739 |
523 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751837887 CA1265845 |
525 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1265846 rs200291571 |
525 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1571461565 CA343550755 |
526 | Q>* | No |
ClinGen Ensembl |
|
|
rs13306731 CA343550756 |
526 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_052031 rs13306731 CA1265847 |
526 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1359253298 CA343550763 |
527 | H>P | No |
ClinGen gnomAD |
|
|
rs1359253298 CA343550764 |
527 | H>R | No |
ClinGen gnomAD |
|
|
rs180878250 CA33642069 |
531 | K>R | No |
ClinGen 1000Genomes |
|
|
CA1265866 rs762045490 |
533 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs762045490 CA343550817 |
533 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1009402363 CA33643409 |
537 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1265869 rs547114418 |
540 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1031055717 CA33643432 |
540 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1265871 rs554315185 |
541 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1265872 rs755226603 |
542 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374268005 CA33643463 |
542 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374268005 CA1265873 |
542 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445033436 CA343550883 |
544 | W>* | No |
ClinGen gnomAD |
|
|
CA33643483 rs867069028 |
544 | W>* | No |
ClinGen Ensembl |
|
|
CA1265874 rs376811551 |
546 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1336688 rs770741362 CA1265875 |
547 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs151112343 CA1265876 |
547 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1265877 rs151112343 |
547 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149858295 CA1265881 |
548 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769406889 CA1265879 |
548 | Y>H | No |
ClinGen ExAC |
|
|
rs771185453 CA33643533 |
549 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771185453 CA1265882 |
549 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P35610
8 regional properties for P35610
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Diacylglycerol kinase, accessory domain | 575 - 749 | IPR000756 |
| domain | Diacylglycerol kinase, catalytic domain | 427 - 561 | IPR001206 |
| domain | EF-hand domain | 172 - 252 | IPR002048 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 268 - 318 | IPR002219-1 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 333 - 380 | IPR002219-2 |
| binding_site | EF-Hand 1, calcium-binding site | 230 - 242 | IPR018247 |
| domain | Diacylglycerol kinase type I, N-terminal | 5 - 172 | IPR029477 |
| domain | Diacylglycerol kinase gamma, second protein kinase C conserved region 1 | 334 - 392 | IPR047475 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.26 | 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cholesterol binding | Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| cholesterol O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + cholesterol = a cholesterol ester + CoA. |
| fatty-acyl-CoA binding | Binding to a fatty-acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with a fatty acyl group. |
| identical protein binding | Binding to an identical protein or proteins. |
| O-acyltransferase activity | Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. |
| sterol O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + a sterol = CoA + a sterol ester. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cholesterol efflux | The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| cholesterol esterification | A lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| cholesterol storage | The accumulation and maintenance in cells or tissues of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| low-density lipoprotein particle clearance | The process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. |
| macrophage derived foam cell differentiation | The process in which a monocyte acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions. |
| positive regulation of amyloid precursor protein biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of amyloid precursor protein (APP), the precursor of amyloid-beta. |
| very-low-density lipoprotein particle assembly | The non-covalent aggregation and arrangement of proteins and lipids in the liver to form a very-low-density lipoprotein particle. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8MK44 | DGAT1 | Diacylglycerol O-acyltransferase 1 | Bos taurus (Bovine) | PR |
| O75907 | DGAT1 | Diacylglycerol O-acyltransferase 1 | Homo sapiens (Human) | PR |
| Q9Z2A7 | Dgat1 | Diacylglycerol O-acyltransferase 1 | Mus musculus (Mouse) | PR |
| O88908 | Soat2 | Sterol O-acyltransferase 2 | Mus musculus (Mouse) | PR |
| Q9ERM3 | Dgat1 | Diacylglycerol O-acyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q9SLD2 | DGAT1 | Diacylglycerol O-acyltransferase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVGEEKMSLR | NRLSKSRENP | EEDEDQRNPA | KESLETPSNG | RIDIKQLIAK | KIKLTAEAEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKPFFMKEVG | SHFDDFVTNL | IEKSASLDNG | GCALTTFSVL | EGEKNNHRAK | DLRAPPEQGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IFIARRSLLD | ELLEVDHIRT | IYHMFIALLI | LFILSTLVVD | YIDEGRLVLE | FSLLSYAFGK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FPTVVWTWWI | MFLSTFSVPY | FLFQHWATGY | SKSSHPLIRS | LFHGFLFMIF | QIGVLGFGPT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YVVLAYTLPP | ASRFIIIFEQ | IRFVMKAHSF | VRENVPRVLN | SAKEKSSTVP | IPTVNQYLYF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LFAPTLIYRD | SYPRNPTVRW | GYVAMKFAQV | FGCFFYVYYI | FERLCAPLFR | NIKQEPFSAR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLVLCVFNSI | LPGVLILFLT | FFAFLHCWLN | AFAEMLRFGD | RMFYKDWWNS | TSYSNYYRTW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NVVVHDWLYY | YAYKDFLWFF | SKRFKSAAML | AVFAVSAVVH | EYALAVCLSF | FYPVLFVLFM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FFGMAFNFIV | NDSRKKPIWN | VLMWTSLFLG | NGVLLCFYSQ | EWYARQHCPL | KNPTFLDYVR |
| PRSWTCRYVF |