Q9HBU6
PR
Gene name |
ETNK1 |
Protein name |
Ethanolamine kinase 1 |
Names |
EKI 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55500 |
EC number |
2.7.1.82: Phosphotransferases with an alcohol group as acceptor |
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 Q9HBU6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HBU6-F1 | Predicted | AlphaFoldDB |
284 variants for Q9HBU6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1476417687 CA384316040 |
2 | L>F | No |
ClinGen gnomAD |
|
|
rs1290641747 CA384316050 |
3 | C>* | No |
ClinGen TOPMed |
|
|
rs1365452974 CA384316047 |
3 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6483499 rs765585549 |
4 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390387614 CA384316052 |
4 | G>S | No |
ClinGen gnomAD |
|
|
rs758552725 CA6483501 |
5 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA384316059 rs1319112268 |
5 | R>H | No |
ClinGen TOPMed |
|
|
CA6483503 rs747614233 |
6 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781616992 CA6483505 |
7 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284572088 CA384316070 |
7 | R>L | No |
ClinGen gnomAD |
|
|
rs781616992 CA384316067 |
7 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774040847 CA6483508 |
8 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs774040847 CA384316072 |
8 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs575063210 CA384316077 |
9 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575063210 CA6483509 |
9 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6483510 rs201961217 |
9 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384316079 rs201961217 |
9 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1486452483 CA384316086 |
10 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1486452483 CA384316085 |
10 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA384316094 rs760173780 |
11 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772584921 CA6483512 |
11 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384316090 rs1368276768 |
11 | D>Y | No |
ClinGen gnomAD |
|
|
CA384316101 rs556992775 |
12 | N>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs770778922 CA6483514 |
12 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384316102 rs1565858543 |
13 | R>G | No |
ClinGen Ensembl |
|
|
rs776668420 CA6483515 |
14 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415656509 CA384316117 |
15 | F>L | No |
ClinGen gnomAD |
|
|
rs1215577983 CA384316120 |
15 | F>S | No |
ClinGen TOPMed |
|
|
rs759425754 CA6483516 |
16 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483519 rs753005990 |
17 | R>G | No |
ClinGen ExAC |
|
|
CA6483520 rs763077434 |
18 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA234162946 rs552546376 |
19 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6483523 rs751599669 |
19 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751599669 CA6483524 |
19 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751599669 CA6483522 |
19 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483521 rs552546376 |
19 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384316142 rs756513365 |
20 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6483525 rs750910931 |
20 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756513365 CA6483526 |
20 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs951597543 CA234162948 |
21 | G>E | No |
ClinGen gnomAD |
|
|
rs1255011290 CA384316146 |
21 | G>R | No |
ClinGen gnomAD |
|
|
rs951597543 CA384316147 |
21 | G>V | No |
ClinGen gnomAD |
|
|
CA6483528 rs755916866 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs560027295 CA6483529 |
23 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384316161 rs1396988085 |
24 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746531845 CA6483531 |
26 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1172250125 CA384316174 |
26 | A>S | No |
ClinGen gnomAD |
|
|
rs1592105490 CA384316180 |
27 | V>I | No |
ClinGen Ensembl |
|
|
CA6483532 rs770425918 |
29 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234162950 rs150714252 |
30 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150714252 CA6483533 |
30 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6483534 rs759511601 |
31 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991491065 CA234162951 |
32 | G>R | No |
ClinGen TOPMed |
|
|
rs1485116962 CA384316232 |
35 | A>V | No |
ClinGen TOPMed |
|
|
CA384316235 rs1592105530 |
36 | A>S | No |
ClinGen Ensembl |
|
|
rs1592105530 CA384316233 |
36 | A>T | No |
ClinGen Ensembl |
|
|
CA6483536 rs775409690 |
36 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764257106 CA6483538 |
39 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6483539 rs751760707 |
40 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA234162953 rs1055714087 |
40 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384316261 rs1255404670 |
41 | P>S | No |
ClinGen gnomAD |
|
|
rs1198272972 CA384316271 |
42 | A>V | No |
ClinGen gnomAD |
|
|
CA384316272 rs1375937344 |
43 | A>T | No |
ClinGen gnomAD |
|
|
rs1159316852 CA384316280 |
44 | R>C | No |
ClinGen gnomAD |
|
|
CA6483540 rs761852304 |
45 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6483542 rs767555547 |
46 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456481609 CA384316291 |
46 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6483543 rs750996176 |
47 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA384316315 rs1288561307 |
50 | P>L | No |
ClinGen gnomAD |
|
|
CA384316312 rs1240768534 |
50 | P>T | No |
ClinGen gnomAD |
|
|
rs755327624 CA6483548 |
51 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275381892 CA384316327 |
52 | A>V | No |
ClinGen gnomAD |
|
|
rs201229938 CA234162955 |
53 | L>P | No |
ClinGen Ensembl |
|
|
rs977382747 CA234162956 |
54 | P>L | No |
ClinGen Ensembl |
|
|
rs545653162 CA384316339 |
55 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA234162957 rs906386429 |
56 | G>R | No |
ClinGen TOPMed |
|
|
CA6483551 rs202085804 |
57 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576246525 CA234162958 |
59 | G>R | No |
ClinGen Ensembl |
|
|
rs1565858898 CA384316391 |
64 | T>A | No |
ClinGen Ensembl |
|
|
rs1565858898 CA384316390 |
64 | T>P | No |
ClinGen Ensembl |
|
|
rs1030931161 CA234162959 |
65 | S>N | No |
ClinGen TOPMed |
|
|
rs1197581234 CA384316402 |
65 | S>R | No |
ClinGen TOPMed |
|
|
CA384316399 rs1030931161 |
65 | S>T | No |
ClinGen TOPMed |
|
|
rs745856468 CA6483554 |
70 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA384316437 rs1351334397 |
72 | L>I | No |
ClinGen gnomAD |
|
|
rs1316853717 CA384316448 |
73 | V>G | No |
ClinGen TOPMed |
|
|
rs1361949261 CA384316445 |
73 | V>L | No |
ClinGen TOPMed |
|
|
CA384316464 rs1292819589 |
76 | V>A | No |
ClinGen gnomAD |
|
|
rs878870080 CA234162961 |
76 | V>I | No |
ClinGen Ensembl |
|
|
rs1592105825 CA384316501 |
82 | V>G | No |
ClinGen Ensembl |
|
|
CA384316502 rs1392592395 |
83 | V>I | No |
ClinGen gnomAD |
|
|
rs1427415674 CA384316526 |
87 | A>T | No |
ClinGen TOPMed |
|
|
rs1164578860 CA384316557 |
91 | A>P | No |
ClinGen TOPMed |
|
|
rs1264174762 CA384316559 |
91 | A>V | No |
ClinGen gnomAD |
|
|
CA384316566 rs1481697551 |
92 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384316589 rs1482199671 |
95 | H>R | No |
ClinGen gnomAD |
|
|
CA6483564 rs767641778 |
97 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA234162963 rs567759665 |
98 | P>A | No |
ClinGen gnomAD |
|
|
CA384316611 rs1305869327 |
99 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA234162964 rs910342753 |
101 | P>Q | No |
ClinGen Ensembl |
|
|
CA384316628 rs1366638010 |
102 | E>* | No |
ClinGen gnomAD |
|
|
CA6483565 rs773294981 |
102 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384316638 rs1592105935 |
103 | V>G | No |
ClinGen Ensembl |
|
|
CA384316644 rs1194193502 |
104 | P>L | No |
ClinGen TOPMed |
|
|
CA234162965 rs1037336682 |
105 | K>Q | No |
ClinGen Ensembl |
|
|
rs373330052 CA234162966 |
107 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1168685317 CA384316659 |
107 | N>Y | No |
ClinGen gnomAD |
|
|
rs1407639254 CA384316664 |
108 | V>I | No |
ClinGen gnomAD |
|
|
rs754321450 CA384316677 |
110 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs754321450 CA6483568 |
110 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs755346854 CA6483569 |
113 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483570 rs765602646 |
116 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229702920 CA384316731 |
117 | R>H | No |
ClinGen gnomAD |
|
|
CA384316739 rs1274052179 |
118 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1340076253 CA384316744 |
119 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs756953756 CA6483572 |
120 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407505858 CA384316747 |
120 | E>K | No |
ClinGen TOPMed |
|
|
CA384316757 rs1202248760 |
121 | G>E | No |
ClinGen gnomAD |
|
|
rs1253741711 CA384316762 |
122 | A>S | No |
ClinGen gnomAD |
|
|
CA6483574 rs745405516 |
123 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs779909625 CA6483576 |
124 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs749222898 CA6483577 |
128 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA384316810 rs1177877597 |
130 | R>Q | No |
ClinGen gnomAD |
|
|
CA384316815 rs1359368227 |
131 | P>S | No |
ClinGen gnomAD |
|
|
CA6483579 rs774183018 |
134 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6483582 rs773381371 |
138 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760764255 CA6483583 |
139 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565865953 CA384313134 |
146 | G>E | No |
ClinGen Ensembl |
|
|
rs763463029 CA6483608 |
152 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764526200 CA6483609 |
152 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483610 rs750170640 |
154 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs150585672 CA6483612 |
156 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753395361 CA6483613 |
158 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1247978835 CA384313226 |
160 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754407615 CA6483614 |
162 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA384313243 rs1592118732 |
162 | D>G | No |
ClinGen Ensembl |
|
|
rs1446150094 CA384313250 |
163 | V>A | No |
ClinGen TOPMed |
|
|
rs1283782688 CA384313246 |
163 | V>I | No |
ClinGen TOPMed |
|
|
rs752606955 CA6483616 |
164 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778931431 CA384313253 |
164 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778931431 CA6483615 |
164 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592118769 CA384313266 |
166 | V>G | No |
ClinGen Ensembl |
|
|
CA384313292 rs1404600805 |
170 | G>D | No |
ClinGen gnomAD |
|
|
CA384313338 rs1166129106 |
176 | L>F | No |
ClinGen TOPMed |
|
|
CA384313345 rs147700944 |
178 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6483620 rs147700944 |
178 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781202115 CA6483621 |
179 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745988567 CA6483622 |
180 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1414568335 CA384313379 |
183 | V>I | No |
ClinGen TOPMed |
|
|
CA384313396 rs1365380731 |
185 | S>N | No |
ClinGen gnomAD |
|
|
rs1227016117 CA384313428 |
190 | Q>E | No |
ClinGen gnomAD |
|
|
rs1403141841 CA384313435 |
191 | A>T | No |
ClinGen gnomAD |
|
|
CA6483623 rs769743781 |
192 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483624 rs769743781 |
192 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763554962 CA6483625 |
193 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278390579 CA384313471 |
196 | P>L | No |
ClinGen gnomAD |
|
|
rs1250283977 CA384313468 |
196 | P>S | No |
ClinGen TOPMed |
|
|
CA6483627 rs774869938 |
197 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199816170 CA234164881 |
197 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384313480 rs1226816378 |
198 | L>F | No |
ClinGen TOPMed |
|
|
CA234164882 rs919951678 |
199 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766088646 CA6483629 |
203 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6483631 rs759133337 |
208 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA384313572 rs1468035566 |
211 | I>L | No |
ClinGen gnomAD |
|
|
CA384313599 rs1389309868 |
215 | A>T | No |
ClinGen gnomAD |
|
|
CA384313612 rs1292861260 |
217 | D>H | No |
ClinGen gnomAD |
|
|
CA384313631 rs1332272081 |
219 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6483636 rs777625762 |
223 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483635 rs777625762 |
223 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483637 rs756960167 |
224 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201123814 CA6483638 |
225 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384313668 rs201123814 |
225 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384314408 rs1438097516 |
229 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384314410 rs1206147944 |
230 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6483690 rs771234348 |
232 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779728346 CA6483691 |
232 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768216523 CA6483693 |
236 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs370316713 CA6483696 |
244 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384314514 rs1484590144 |
245 | G>D | No |
ClinGen gnomAD |
|
|
rs1166264097 CA384314524 |
246 | W>C | No |
ClinGen TOPMed |
|
|
CA384314527 rs1192636333 |
247 | I>V | No |
ClinGen gnomAD |
|
|
CA384314533 rs1425418403 |
248 | P>S | No |
ClinGen gnomAD |
|
|
CA6483697 rs374315383 |
251 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384314589 rs1174733666 |
256 | M>V | No |
ClinGen gnomAD |
|
|
CA6483698 rs190440442 |
258 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384314625 rs1318218679 |
260 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6483700 rs754177521 |
262 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA384314637 rs1438694362 |
263 | I>L | No |
ClinGen gnomAD |
|
|
rs759817342 CA6483701 |
265 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1345124372 CA384314669 |
268 | A>T | No |
ClinGen gnomAD |
|
|
rs765440904 CA6483702 |
269 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765440904 CA6483703 |
269 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA234166477 rs1052471567 |
272 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs142416316 CA234166476 |
272 | I>V | No |
ClinGen ESP |
|
|
CA6483704 rs758460930 |
273 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6483723 rs752911248 |
276 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762989356 CA6483724 |
278 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA384314760 rs1230260659 |
279 | D>V | No |
ClinGen TOPMed |
|
|
rs1229920552 CA384314764 |
280 | I>V | No |
ClinGen gnomAD |
|
|
rs764201342 CA6483725 |
282 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6483726 rs752120627 |
283 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384314786 rs752120627 |
283 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294759582 CA384314789 |
284 | Q>E | No |
ClinGen TOPMed |
|
|
CA6483727 rs75025746 |
284 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767948882 CA6483728 |
285 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750817176 CA6483729 |
286 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs756457134 CA6483730 |
287 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302975980 CA384314811 |
287 | Q>L | No |
ClinGen TOPMed |
|
|
CA384314820 CA384314819 rs4963793 |
288 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1170096196 CA384314880 |
296 | I>F | No |
ClinGen TOPMed |
|
|
rs757914471 CA6483733 |
296 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA384314881 rs1384730171 |
296 | I>N | No |
ClinGen gnomAD |
|
|
rs1384730171 CA384314883 |
296 | I>S | No |
ClinGen gnomAD |
|
|
rs1170784168 CA384314889 |
297 | L>R | No |
ClinGen gnomAD |
|
|
CA384314900 rs1450414053 |
299 | N>S | No |
ClinGen TOPMed |
|
|
rs1565444789 CA384314930 |
304 | V>A | No |
ClinGen Ensembl |
|
|
rs747740695 CA234166680 |
305 | V>G | No |
ClinGen Ensembl |
|
|
CA384314965 rs1327968608 |
309 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384314994 rs1565444805 |
313 | C>S | No |
ClinGen Ensembl |
|
|
rs1256927243 CA384315002 |
314 | K>R | No |
ClinGen TOPMed |
|
|
rs746458212 CA6483735 |
316 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA234166681 rs897205878 |
319 | N>D | No |
ClinGen Ensembl |
|
|
rs770992839 CA6483736 |
319 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381489001 CA384315046 |
320 | E>D | No |
ClinGen gnomAD |
|
|
rs1326484572 CA384315083 |
324 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1244719589 CA384315111 |
327 | F>L | No |
ClinGen gnomAD |
|
|
CA6483748 rs533186662 |
330 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224527296 CA384315159 |
334 | G>E | No |
ClinGen gnomAD |
|
|
CA384315214 rs1191382050 |
342 | I>F | No |
ClinGen gnomAD |
|
|
rs924496125 CA234167662 |
347 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384315296 rs1412044877 |
351 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA384315306 rs1335690766 |
353 | S>N | No |
ClinGen gnomAD |
|
|
rs759775786 CA6483772 |
354 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA384315324 rs1267356744 |
356 | D>N | No |
ClinGen gnomAD |
|
|
rs763857543 CA6483773 |
358 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA234167903 rs527337800 |
358 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1404977733 CA384315347 |
359 | L>V | No |
ClinGen TOPMed |
|
|
rs1404326491 CA384315356 |
360 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6483776 rs780843279 |
362 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6483777 rs749847213 |
363 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289846343 CA603862106 |
364 | E>* | No |
ClinGen gnomAD |
|
|
rs1418457964 CA384315409 |
368 | Q>E | No |
ClinGen gnomAD |
|
|
CA384315412 rs1179541885 |
368 | Q>R | No |
ClinGen gnomAD |
|
|
rs756083776 CA6483778 |
369 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6483779 rs371547299 |
371 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384315429 rs371547299 |
371 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749131482 CA6483781 |
371 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749131482 CA6483780 |
371 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234167904 rs547379824 |
374 | L>I | No |
ClinGen Ensembl |
|
|
CA384315467 rs1431183281 |
377 | Y>C | No |
ClinGen gnomAD |
|
|
CA384315474 rs1319585060 |
378 | K>E | No |
ClinGen gnomAD |
|
|
CA6483782 rs140394146 |
378 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1187185900 CA384315496 |
381 | K>E | No |
ClinGen Ensembl |
|
|
rs1390209323 CA384315517 |
384 | G>R | No |
ClinGen gnomAD |
|
|
CA384315538 rs1221586159 |
387 | V>I | No |
ClinGen TOPMed |
|
|
CA384315548 rs1383695446 |
388 | T>I | No |
ClinGen gnomAD |
|
|
CA384315547 rs1383695446 |
388 | T>S | No |
ClinGen gnomAD |
|
|
rs1245357030 CA384315576 |
392 | V>A | No |
ClinGen gnomAD |
|
|
CA234167906 rs374176525 |
392 | V>I | No |
ClinGen Ensembl |
|
|
rs773977042 CA234167907 |
393 | E>D | No |
ClinGen Ensembl |
|
|
CA384315578 rs1312936217 |
393 | E>K | No |
ClinGen gnomAD |
|
|
rs772199457 CA6483784 |
394 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA603862137 rs1205430111 |
397 | I>C | No |
ClinGen gnomAD |
|
|
rs375707259 CA234167908 |
398 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA384315624 rs1316969399 |
399 | V>G | No |
ClinGen gnomAD |
|
|
CA384315619 rs1194070166 |
399 | V>I | No |
ClinGen gnomAD |
|
|
CA384315629 rs1244874185 |
400 | N>S | No |
ClinGen gnomAD |
|
|
CA6483786 rs760602109 |
403 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343458153 CA384315676 |
405 | A>S | No |
ClinGen gnomAD |
|
|
rs1361800857 CA384315761 |
417 | Q>K | No |
ClinGen TOPMed |
|
|
rs765806085 CA6483817 |
418 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765090497 CA6483820 |
425 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA384315845 rs1224226866 |
428 | L>P | No |
ClinGen gnomAD |
|
|
rs776125833 CA6483836 |
432 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384315892 rs1465224773 |
434 | R>C | No |
ClinGen TOPMed |
|
|
rs150365004 CA6483837 |
434 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438721097 CA384315912 |
437 | Q>E | No |
ClinGen gnomAD |
|
|
CA6483838 rs765178693 |
444 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs11548473 CA234169132 |
445 | V>F | No |
ClinGen Ensembl |
|
|
rs1462994707 CA384315980 |
446 | T>S | No |
ClinGen gnomAD |
|
|
rs1184324525 CA384315989 |
447 | A>V | No |
ClinGen gnomAD |
|
|
CA384315998 rs1384636594 |
449 | K>E | No |
ClinGen gnomAD |
|
|
CA6483841 rs758249870 |
451 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142528168 CA6483842 |
452 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9HBU6
No regional properties for Q9HBU6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9HBU6 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.82 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ethanolamine kinase activity | Catalysis of the reaction: ATP + ethanolamine = ADP + 2 H(+) + phosphoethanolamine. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| phosphatidylethanolamine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylethanolamine, any of a class of glycerophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of ethanolamine. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P20485 | CKI1 | Choline kinase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P54352 | eas | Ethanolamine kinase | Drosophila melanogaster (Fruit fly) | PR |
| P35790 | CHKA | Choline kinase alpha | Homo sapiens (Human) | PR |
| A7MCT6 | Etnk2 | Ethanolamine kinase 2 | Mus musculus (Mouse) | PR |
| Q9D4V0 | Etnk1 | Ethanolamine kinase 1 | Mus musculus (Mouse) | PR |
| D3ZRW8 | Etnk2 | Ethanolamine kinase 2 | Rattus norvegicus (Rat) | PR |
| Q8L518 | At1g74320 | Probable choline kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLCGRPRSSS | DNRNFLRERA | GLSSAAVQTR | IGNSAASRRS | PAARPPVPAP | PALPRGRPGT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EGSTSLSAPA | VLVVAVAVVV | VVVSAVAWAM | ANYIHVPPGS | PEVPKLNVTV | QDQEEHRCRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GALSLLQHLR | PHWDPQEVTL | QLFTDGITNK | LIGCYVGNTM | EDVVLVRIYG | NKTELLVDRD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEVKSFRVLQ | AHGCAPQLYC | TFNNGLCYEF | IQGEALDPKH | VCNPAIFRLI | ARQLAKIHAI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HAHNGWIPKS | NLWLKMGKYF | SLIPTGFADE | DINKRFLSDI | PSSQILQEEM | TWMKEILSNL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSPVVLCHND | LLCKNIIYNE | KQGDVQFIDY | EYSGYNYLAY | DIGNHFNEFA | GVSDVDYSLY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PDRELQSQWL | RAYLEAYKEF | KGFGTEVTEK | EVEILFIQVN | QFALASHFFW | GLWALIQAKY |
| 430 | 440 | 450 | |||
| STIEFDFLGY | AIVRFNQYFK | MKPEVTALKV | PE |