Q92903
PR
Gene name |
CDS1 |
Protein name |
Phosphatidate cytidylyltransferase 1 |
Names |
CDP-DAG synthase 1, CDP-DG synthase 1, CDP-diacylglycerol synthase 1, CDS 1, CDP-diglyceride pyrophosphorylase 1, CDP-diglyceride synthase 1, CTP:phosphatidate cytidylyltransferase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1040 |
EC number |
2.7.7.41: Nucleotidyltransferases |
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 Q92903
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92903-F1 | Predicted | AlphaFoldDB |
301 variants for Q92903
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA101176344 rs988311489 |
5 | R>K | No |
ClinGen Ensembl |
|
|
CA2991474 rs754488834 |
6 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA101176345 rs914077418 |
6 | H>Q | No |
ClinGen Ensembl |
|
|
CA2991475 rs764837043 |
7 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752352977 CA2991476 |
9 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357366345 rs1358912243 |
11 | P>S | No |
ClinGen gnomAD |
|
|
rs563606023 CA2991478 |
13 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563606023 CA357366378 |
13 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2991479 rs746228566 |
14 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs761139797 CA2991480 |
16 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA357366471 rs1255574180 |
18 | S>W | No |
ClinGen TOPMed |
|
|
CA2991483 rs768744901 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA357366485 rs1278226155 |
20 | P>L | No |
ClinGen gnomAD |
|
|
rs1485193726 CA357366498 |
22 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779029060 CA2991484 |
23 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357366511 rs1253840357 |
24 | G>E | No |
ClinGen gnomAD |
|
|
CA2991485 rs748341714 |
25 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA357366524 rs1181021980 |
26 | A>E | No |
ClinGen gnomAD |
|
|
CA357366530 rs1170399170 |
27 | A>G | No |
ClinGen gnomAD |
|
|
CA2991487 rs773203422 |
27 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170399170 CA357366531 |
27 | A>V | No |
ClinGen gnomAD |
|
|
rs771039835 CA2991489 |
28 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357366537 rs1314437716 |
29 | G>S | No |
ClinGen TOPMed |
|
|
CA357366581 rs1409688794 |
34 | E>K | No |
ClinGen gnomAD |
|
|
rs1409688794 CA357366583 |
34 | E>Q | No |
ClinGen gnomAD |
|
|
rs1275428246 CA357366601 |
35 | S>G | No |
ClinGen gnomAD |
|
|
rs1324785465 CA357366629 |
36 | T>I | No |
ClinGen gnomAD |
|
|
CA2991491 rs758997133 |
37 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357366658 rs1231095755 |
38 | D>G | No |
ClinGen gnomAD |
|
|
rs1180891715 CA357366653 |
38 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA101176348 rs1034844978 |
39 | K>N | No |
ClinGen TOPMed |
|
|
CA2991506 rs770807008 |
40 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357366990 rs1180477408 |
41 | T>A | No |
ClinGen TOPMed |
|
|
CA357366994 rs1358468735 |
41 | T>K | No |
ClinGen gnomAD |
|
|
CA2991507 rs150960860 |
43 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1207538926 CA357367020 |
43 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs999268880 CA101178633 |
45 | D>V | No |
ClinGen Ensembl |
|
|
rs769616565 CA2991509 |
46 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769616565 CA357367067 |
46 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357367069 rs769616565 |
46 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140772519 CA357367084 |
47 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM734432 CA2991510 rs775124128 |
47 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA357367079 rs775124128 |
47 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs118099717 CA2991512 |
48 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1472127753 CA357367107 |
49 | D>G | No |
ClinGen gnomAD |
|
|
CA2991513 rs751177183 |
49 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1164846282 CA357367125 |
50 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs761052360 CA2991514 |
51 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2991515 rs766674947 |
55 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318764543 CA357367229 |
57 | D>E | No |
ClinGen gnomAD |
|
|
rs754301694 CA2991516 |
58 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA357367233 rs1388235642 |
58 | I>V | No |
ClinGen gnomAD |
|
|
rs779270820 CA2991518 |
59 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292629669 CA357367262 |
60 | E>K | No |
ClinGen gnomAD |
|
|
CA2991520 rs758521305 |
61 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs202224063 CA2991521 |
63 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357367294 rs1358291158 |
63 | P>T | No |
ClinGen TOPMed |
|
|
rs747178176 CA2991523 |
66 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2991524 rs371111100 |
67 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781201656 CA2991525 |
68 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA357367400 rs1473933203 |
71 | I>V | No |
ClinGen gnomAD |
|
|
rs745637085 CA2991526 |
73 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357367452 rs1413413394 |
75 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357367461 rs1473597807 |
75 | A>V | No |
ClinGen gnomAD |
|
|
CA2991528 rs775262819 |
80 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1365475727 CA357367565 |
84 | K>E | No |
ClinGen TOPMed |
|
|
rs1296385259 CA357367573 |
85 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357367587 rs1296150369 |
86 | W>C | No |
ClinGen TOPMed |
|
|
rs755829357 CA2991544 |
86 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs780066791 CA2991545 |
87 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA357367595 rs1380061500 |
87 | W>C | No |
ClinGen TOPMed |
|
|
CA2991546 rs559513398 |
88 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2991547 rs530030554 |
89 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1234004537 CA357367604 |
89 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1234004537 CA357367606 |
89 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1457898269 CA357367611 |
90 | G>A | No |
ClinGen TOPMed |
|
|
CA2991549 rs369443885 |
94 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2991551 rs771757529 |
95 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1375431841 CA357367647 |
96 | M>R | No |
ClinGen gnomAD |
|
|
CA357367643 rs1251264556 |
96 | M>V | No |
ClinGen gnomAD |
|
|
CA357367661 rs1553903405 |
98 | S>* | No |
ClinGen Ensembl |
|
|
COSM3393027 CA2991552 rs1553903405 |
98 | S>L | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
VAR_048736 CA2991555 TCGA novel rs36068434 |
99 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
CA357367683 rs1450264254 |
101 | F>L | No |
ClinGen TOPMed |
|
|
rs765468711 CA2991556 |
102 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763623904 CA2991558 |
103 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1454039741 CA357367690 |
103 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2991560 rs751739087 |
104 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373758079 CA2991561 |
105 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457969088 CA357367714 |
106 | M>I | No |
ClinGen gnomAD |
|
|
CA357367710 rs1353904290 |
106 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357367743 rs1297924369 |
110 | M>I | No |
ClinGen gnomAD |
|
|
rs997161950 CA101179253 |
112 | M>V | No |
ClinGen TOPMed |
|
|
rs1349761209 CA357367768 |
114 | L>R | No |
ClinGen gnomAD |
|
|
rs375639552 CA101180160 |
118 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1231656362 CA357368817 |
118 | I>V | No |
ClinGen TOPMed |
|
|
CA357368824 rs1390432618 |
119 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770197327 CA2991574 |
120 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2991575 rs74984405 |
124 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2991576 rs763389247 |
124 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1292009320 CA357368876 |
126 | I>N | No |
ClinGen gnomAD |
|
|
CA2991577 rs769326580 |
128 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2991578 rs774959741 |
129 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762010332 CA2991581 |
130 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2991582 rs370199667 |
133 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750665994 CA2991583 |
134 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920554135 CA357368951 |
137 | Y>* | No |
ClinGen gnomAD |
|
|
rs139700399 CA2991584 |
140 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2991585 rs139700399 |
140 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2991586 rs79902700 |
141 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227854277 CA357368970 |
141 | W>R | No |
ClinGen TOPMed |
|
|
CA101180162 rs890718396 |
144 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357369036 rs1425488003 |
148 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs775014789 CA2991598 |
153 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310424541 CA357369124 |
160 | E>D | No |
ClinGen gnomAD |
|
|
CA357369127 rs1462125976 |
161 | T>A | No |
ClinGen TOPMed |
|
|
CA2991600 rs772632906 |
162 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357369153 rs1167910469 |
165 | Y>H | No |
ClinGen TOPMed |
|
|
rs1370087133 CA357369174 |
168 | T>A | No |
ClinGen gnomAD |
|
|
CA357369189 rs1270204840 |
170 | V>F | No |
ClinGen TOPMed |
|
|
CA357369239 rs1275053906 |
177 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs766546783 CA2991603 |
177 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA357369260 rs1196752720 |
180 | I>V | No |
ClinGen TOPMed |
|
|
CA2991605 rs759347542 |
181 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2991606 rs764952660 |
181 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1381775352 CA357369277 |
182 | Y>* | No |
ClinGen gnomAD |
|
|
rs1191367598 CA357369273 |
182 | Y>C | No |
ClinGen gnomAD |
|
|
rs752635583 CA2991607 |
184 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1256469950 CA357369301 |
186 | I>V | No |
ClinGen TOPMed |
|
|
rs1225406990 CA357369310 |
187 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 188 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2991608 rs143213768 |
189 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1282759887 CA357369323 |
189 | A>V | No |
ClinGen TOPMed |
|
|
rs144762911 CA101180341 |
190 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2991609 rs144762911 |
190 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA101180342 rs1016656370 |
191 | Y>C | No |
ClinGen TOPMed |
|
|
CA2991635 rs779827040 |
196 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA357370047 rs1206538757 |
196 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2991636 rs748497937 |
197 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2991637 rs758747596 |
199 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA101181668 rs778776040 |
202 | L>V | No |
ClinGen Ensembl |
|
| VAR_036129 | 204 | K>T | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA357370117 rs747491269 |
206 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs747491269 CA2991639 |
206 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA101181670 rs944347252 COSM1718380 |
208 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs771001468 CA2991640 |
208 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771001468 CA2991641 |
208 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs375840719 | 214 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA100675306 rs113432734 |
215 | A>S | No |
ClinGen ExAC |
|
|
CA2991661 COSM292299 rs113432734 |
215 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs745978834 CA2991663 |
220 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA100675331 rs367730103 |
222 | L>P | No |
ClinGen Ensembl |
|
|
CA100675333 rs769211006 |
223 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 225 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282833007 CA357258550 |
230 | L>I | No |
ClinGen gnomAD |
|
|
rs1481643303 CA357258606 |
235 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357258670 rs1157044113 |
240 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2991694 rs768975884 |
241 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs749463297 CA2991667 |
241 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866419809 CA100675862 |
242 | F>L | No |
ClinGen Ensembl |
|
|
CA2991695 rs778975938 |
244 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357258775 rs778975938 |
244 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357258796 rs1189299561 |
246 | I>L | No |
ClinGen TOPMed |
|
|
CA357258794 rs1189299561 |
246 | I>V | No |
ClinGen TOPMed |
|
|
rs547078642 CA2991696 |
248 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771940970 CA2991697 |
250 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA357258850 rs1578049381 |
251 | C>F | No |
ClinGen Ensembl |
|
|
rs773293764 CA2991698 |
252 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364533450 CA357258869 |
252 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1560481283 CA357258864 |
252 | N>S | No |
ClinGen Ensembl |
|
|
CA357258860 rs773293764 |
252 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204814833 CA357258887 |
254 | I>L | No |
ClinGen TOPMed |
|
|
rs760620010 CA2991699 |
254 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1323509360 CA357258931 |
258 | L>F | No |
ClinGen TOPMed |
|
|
rs1295525014 CA357258952 |
260 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs935808202 CA100675876 |
261 | F>L | No |
ClinGen Ensembl |
|
|
CA2991703 rs776261160 |
263 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs759091263 | 263 | F>L | Variant assessed as Somatic; 0.00118 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357259007 rs1335521212 |
263 | F>S | No |
ClinGen gnomAD |
|
|
rs1271503140 CA357259018 |
264 | G>E | No |
ClinGen gnomAD |
|
| rs759091263 | 264 | G>W | Variant assessed as Somatic; 0.0002248 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357259067 rs1334512446 |
267 | P>S | No |
ClinGen gnomAD |
|
|
rs1334512446 CA357259075 |
267 | P>T | No |
ClinGen gnomAD |
|
|
rs1177401929 CA357259246 |
273 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1177401929 CA357259244 |
273 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1409757039 CA357259254 |
274 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 275 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008336052 CA100677972 |
281 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1399314709 CA357259304 |
281 | I>V | No |
ClinGen gnomAD |
|
|
rs565535100 CA100678000 |
286 | S>A | No |
ClinGen 1000Genomes |
|
|
CA357259396 rs1474765295 CA357259397 |
289 | V>L | No |
ClinGen TOPMed |
|
|
CA2991739 rs150621905 |
291 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA100678004 rs577371108 |
293 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA357259438 rs1376458388 |
293 | I>V | No |
ClinGen gnomAD |
|
|
CA2991763 rs765823728 |
294 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2991764 rs752871415 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2991765 rs543076154 |
295 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751675202 CA2991767 |
296 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757080263 CA2991768 |
297 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs780917470 CA2991769 |
299 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs756096401 CA2991771 |
300 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2991772 rs779938899 |
301 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs768110240 CA2991774 |
303 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1307305659 CA357260004 |
304 | F>V | No |
ClinGen TOPMed |
|
|
CA357260024 rs1170182188 |
306 | C>S | No |
ClinGen gnomAD |
|
|
CA357260029 rs1417410333 |
306 | C>Y | No |
ClinGen gnomAD |
|
|
rs747685965 CA2991776 |
310 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs778546364 CA2991775 |
310 | Y>D | No |
ClinGen ExAC |
|
|
CA2991777 rs370191328 |
311 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2991778 rs776915359 |
311 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759920503 CA2991779 |
312 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2991780 rs770463200 |
313 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1422576064 CA357260132 |
315 | N>I | No |
ClinGen TOPMed |
|
|
rs201473958 CA2991783 |
316 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA100679151 rs184398080 |
318 | V>E | No |
ClinGen 1000Genomes |
|
|
CA2991785 rs146506985 |
318 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA100679159 rs1046246931 |
319 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755867485 CA2991788 |
323 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1411810338 CA357260236 |
324 | S>L | No |
ClinGen gnomAD |
|
|
CA357260239 rs1477531800 |
325 | E>K | No |
ClinGen gnomAD |
|
|
rs994027440 CA100679170 |
330 | Q>R | No |
ClinGen Ensembl |
|
|
CA2991790 rs753712784 |
331 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA357260316 rs754484608 |
331 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754484608 CA2991791 |
331 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA357260342 rs1389687681 |
333 | S>L | No |
ClinGen gnomAD |
|
|
rs1382620250 CA357260348 |
334 | L>F | No |
ClinGen gnomAD |
|
|
CA2991794 rs747677614 |
335 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2991795 rs771670125 |
336 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1310832155 CA357260368 |
336 | P>L | No |
ClinGen TOPMed |
|
|
rs1356851920 CA357260380 |
337 | F>C | No |
ClinGen gnomAD |
|
|
CA357260382 rs1231026374 |
337 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754964105 CA2991810 |
345 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2991811 rs765196172 |
346 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA100680820 rs933604046 |
349 | L>S | No |
ClinGen TOPMed |
|
|
rs1354956262 CA357260487 |
351 | P>R | No |
ClinGen TOPMed |
|
|
rs752187012 CA2991812 |
351 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs757884134 CA2991813 |
352 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA357260502 rs1376072943 |
353 | Q>H | No |
ClinGen gnomAD |
|
|
CA357260509 rs1179966961 |
354 | I>M | No |
ClinGen gnomAD |
|
|
CA2991814 rs139701286 |
356 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2991815 rs746601898 |
357 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs756965648 CA2991816 |
358 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1464090284 CA357260564 |
360 | S>A | No |
ClinGen gnomAD |
|
|
rs377603195 CA2991819 |
361 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA100680876 rs187738215 |
366 | I>F | No |
ClinGen 1000Genomes |
|
|
rs1214828935 CA357260638 |
366 | I>T | No |
ClinGen gnomAD |
|
|
rs748195611 CA2991821 |
369 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA357260693 rs1176458526 |
370 | G>A | No |
ClinGen TOPMed |
|
|
rs772128748 CA2991822 |
371 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2991823 rs773432133 |
372 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs760958170 CA2991824 |
372 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA357261183 rs1278758303 |
385 | D>G | No |
ClinGen TOPMed |
|
|
rs1578057355 CA357261256 |
396 | I>L | No |
ClinGen Ensembl |
|
|
CA2991841 rs777891523 |
397 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1225426868 CA357261269 |
398 | D>N | No |
ClinGen gnomAD |
|
|
rs747072271 CA2991842 |
401 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1335643797 CA357261306 |
402 | C>W | No |
ClinGen gnomAD |
|
|
rs1276344095 CA357261328 |
405 | L>F | No |
ClinGen TOPMed |
|
|
CA357261331 rs1578057377 |
406 | M>V | No |
ClinGen Ensembl |
|
|
CA2991843 rs771185324 |
409 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs776795772 CA2991844 |
410 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1436981112 CA357261365 |
411 | H>Y | No |
ClinGen TOPMed |
|
|
CA2991846 rs769574821 |
414 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1186606 rs549242215 CA100682283 |
416 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
| TCGA novel | 417 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357261413 rs1187296763 |
418 | I>V | No |
ClinGen gnomAD |
|
|
rs1041259223 CA100682286 |
419 | R>K | No |
ClinGen Ensembl |
|
|
CA2991863 rs746035576 |
420 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1455319013 CA357261440 |
420 | G>D | No |
ClinGen TOPMed |
|
|
rs746035576 CA357261438 |
420 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs148659910 CA2991864 |
424 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357261919 rs1430891638 |
432 | V>L | No |
ClinGen gnomAD |
|
|
CA357261913 rs1430891638 |
432 | V>M | No |
ClinGen gnomAD |
|
|
rs762622685 CA2991866 |
433 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2991868 rs34695122 |
435 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2991869 rs761418360 |
435 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2991870 rs767065640 |
437 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224546355 CA357262053 |
440 | N>S | No |
ClinGen gnomAD |
|
|
CA2991871 rs749892255 |
443 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2991872 rs760437708 |
443 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA2991873 rs765930064 |
444 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357262134 rs1560486586 |
447 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 448 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2991874 rs144999442 |
450 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211695238 CA357262219 |
455 | L>P | No |
ClinGen gnomAD |
|
|
rs945900364 CA100684254 |
456 | Q>* | No |
ClinGen TOPMed |
|
|
rs1362668324 CA357262250 |
458 | T>N | No |
ClinGen gnomAD |
|
|
rs977734420 CA100684258 |
458 | T>S | No |
ClinGen Ensembl |
|
|
CA357262272 rs764609438 |
460 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357262267 rs1482684236 |
460 | K>R | No |
ClinGen gnomAD |
|
|
CA2991878 rs752007454 |
461 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2991877 rs752007454 |
461 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349592150 CA357262283 |
462 | V>Q | No |
ClinGen TOPMed |
No associated diseases with Q92903
No regional properties for Q92903
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92903 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.41 | Nucleotidyltransferases |
| 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 | 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| diacylglycerol cholinephosphotransferase activity | Catalysis of the reaction: CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine. |
| phosphatidate cytidylyltransferase activity | Catalysis of the reaction: CTP + phosphatidate = diphosphate + CDP-diacylglycerol. |
6 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. |
| lipid droplet formation | A process that results in the assembly, arrangement of constituent parts of a lipid droplet. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phototransduction | The sequence of reactions within a cell required to convert absorbed photons into a molecular signal. |
| positive regulation of fat cell differentiation | Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38221 | CDS1 | Phosphatidate cytidylyltransferase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A0JNC1 | CDS2 | Phosphatidate cytidylyltransferase 2 | Bos taurus (Bovine) | PR |
| P56079 | Cds | Phosphatidate cytidylyltransferase, photoreceptor-specific | Drosophila melanogaster (Fruit fly) | PR |
| O95674 | CDS2 | Phosphatidate cytidylyltransferase 2 | Homo sapiens (Human) | PR |
| P98191 | Cds1 | Phosphatidate cytidylyltransferase 1 | Mus musculus (Mouse) | PR |
| Q99L43 | Cds2 | Phosphatidate cytidylyltransferase 2 | Mus musculus (Mouse) | PR |
| Q91XU8 | Cds2 | Phosphatidate cytidylyltransferase 2 | Rattus norvegicus (Rat) | PR |
| O35052 | Cds1 | Phosphatidate cytidylyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q1PE48 | CDS3 | Phosphatidate cytidylyltransferase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLELRHRGSC | PGPREAVSPP | HREGEAAGGD | HETESTSDKE | TDIDDRYGDL | DSRTDSDIPE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IPPSSDRTPE | ILKKALSGLS | SRWKNWWIRG | ILTLTMISLF | FLIIYMGSFM | LMLLVLGIQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KCFHEIITIG | YRVYHSYDLP | WFRTLSWYFL | LCVNYFFYGE | TVADYFATFV | QREEQLQFLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RYHRFISFAL | YLAGFCMFVL | SLVKKHYRLQ | FYMFAWTHVT | LLITVTQSHL | VIQNLFEGMI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WFLVPISSVI | CNDITAYLFG | FFFGRTPLIK | LSPKKTWEGF | IGGFFSTVVF | GFIAAYVLSK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YQYFVCPVEY | RSDVNSFVTE | CEPSELFQLQ | TYSLPPFLKA | VLRQERVSLY | PFQIHSIALS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TFASLIGPFG | GFFASGFKRA | FKIKDFANTI | PGHGGIMDRF | DCQYLMATFV | HVYITSFIRG |
| 430 | 440 | 450 | 460 | ||
| PNPSKVLQQL | LVLQPEQQLN | IYKTLKTHLI | EKGILQPTLK | V |