Q7L8W6
Gene name |
DPH6 |
Protein name |
Diphthine--ammonia ligase |
Names |
ATP-binding domain-containing protein 4, Diphthamide synthase, Diphthamide synthetase, Protein DPH6 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:89978 |
EC number |
6.3.1.14: Acid--ammonia (or amine) ligases (amide synthases) |
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 Q7L8W6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7L8W6-F1 | Predicted | AlphaFoldDB |
219 variants for Q7L8W6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA391923433 rs1254953034 |
2 | R>S | No |
ClinGen gnomAD |
|
|
CA7468672 rs747539785 |
2 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780683833 CA7468671 |
3 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391923422 rs1458861247 |
4 | A>E | No |
ClinGen TOPMed |
|
|
rs1485407671 CA391923419 |
5 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1485407671 CA391923418 |
5 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391923415 rs1201353075 |
5 | A>V | No |
ClinGen Ensembl |
|
|
CA268978564 rs1053713276 |
6 | L>P | No |
ClinGen Ensembl |
|
|
CA268978565 rs946682046 |
6 | L>V | No |
ClinGen TOPMed |
|
|
rs1049464077 CA268978562 |
7 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs745951697 CA7468669 |
8 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA391923382 rs1248163478 |
9 | G>D | No |
ClinGen gnomAD |
|
|
rs1595457482 CA391923372 |
11 | K>E | No |
ClinGen Ensembl |
|
|
rs1566946434 CA391923364 |
12 | D>N | No |
ClinGen Ensembl |
|
|
CA7468655 rs761088772 |
13 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1269112061 CA391923353 |
13 | S>T | No |
ClinGen gnomAD |
|
|
CA7468654 rs747627790 |
15 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230567377 CA391923328 |
16 | N>K | No |
ClinGen gnomAD |
|
|
CA391923321 rs1418267053 |
17 | M>I | No |
ClinGen gnomAD |
|
|
CA391923322 rs1161756263 |
17 | M>R | No |
ClinGen TOPMed |
|
|
rs933028569 CA391923315 |
18 | M>K | No |
ClinGen gnomAD |
|
|
CA268978131 rs933028569 |
18 | M>T | No |
ClinGen gnomAD |
|
|
rs1387671256 CA391923317 |
18 | M>V | No |
ClinGen TOPMed |
|
|
CA391923308 rs1297034395 |
19 | Q>* | No |
ClinGen gnomAD |
|
|
CA391923293 rs1333060648 |
21 | I>V | No |
ClinGen gnomAD |
|
|
CA7468652 rs141206143 |
22 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7468651 rs774490655 |
23 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391923277 rs1358067932 |
24 | G>R | No |
ClinGen TOPMed |
|
|
rs943536618 CA391923249 |
27 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs148139655 CA391923247 |
28 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7468649 rs148139655 |
28 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777953049 CA7468648 |
30 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1383499100 CA391923228 |
31 | A>G | No |
ClinGen TOPMed |
|
|
CA7468647 rs755947387 |
31 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs373612094 CA391923197 |
36 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA268978128 rs373612094 |
36 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1007187617 CA268978127 |
39 | Q>L | No |
ClinGen TOPMed |
|
|
rs1030054031 CA268978126 |
40 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7468636 rs34907758 |
41 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7468635 VAR_031403 RCV000957254 rs34907758 |
41 | G>E | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA391923142 rs1444182293 |
43 | D>A | No |
ClinGen gnomAD |
|
|
CA7468634 rs774673219 |
44 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs981952887 CA268977735 |
44 | E>K | No |
ClinGen Ensembl |
|
|
rs1200091335 CA391923131 |
45 | L>P | No |
ClinGen gnomAD |
|
|
CA391923123 rs1375428907 |
46 | D>E | No |
ClinGen TOPMed |
|
|
rs143353998 CA7468633 |
46 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA268977734 rs866968402 |
49 | M>I | No |
ClinGen Ensembl |
|
|
rs749336463 CA7468632 |
49 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1229415944 CA391923095 |
50 | Y>C | No |
ClinGen gnomAD |
|
|
rs112008207 CA268977733 |
50 | Y>H | No |
ClinGen Ensembl |
|
|
CA391923090 rs773489733 |
51 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773489733 CA7468631 |
51 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1239205170 CA391923083 |
52 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs769995089 CA7468630 |
52 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391923056 rs1468903880 |
56 | H>R | No |
ClinGen gnomAD |
|
|
CA391923057 rs1566945084 |
56 | H>Y | No |
ClinGen Ensembl |
|
|
CA391923051 rs1403469095 |
57 | A>T | No |
ClinGen gnomAD |
|
|
CA391923044 rs1161056076 |
58 | I>V | No |
ClinGen gnomAD |
|
|
CA391923032 COSM960946 rs1334637909 COSM960947 |
59 | D>E | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7468627 rs768297939 |
60 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs747013601 CA7468626 |
61 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747013601 CA391923020 |
61 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779821700 CA7468625 |
64 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238060633 CA391922995 |
65 | M>T | No |
ClinGen gnomAD |
|
|
rs757990199 CA7468624 |
65 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299658976 CA391922982 |
67 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183083757 CA391922962 |
70 | Y>C | No |
ClinGen gnomAD |
|
|
rs749935491 CA7468623 |
71 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7468622 rs778508898 |
71 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371901885 CA7468620 |
72 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs374490007 CA7468619 COSM1640214 COSM1640213 |
72 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1282670869 CA391922939 |
74 | I>M | No |
ClinGen gnomAD |
|
|
CA391922944 rs1310540683 |
74 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA391922928 rs1459814740 |
76 | G>E | No |
ClinGen gnomAD |
|
|
rs1324909057 CA391922931 |
76 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1284215433 CA391922894 |
81 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113342947 CA268977731 |
87 | K>R | No |
ClinGen Ensembl |
|
|
CA7468615 rs763082163 |
88 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7468614 rs773296974 |
88 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs868488195 CA268977730 |
90 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 91 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391922817 rs1156669248 |
92 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 94 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762055995 CA7468612 |
96 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs370450320 CA268977728 |
103 | V>G | No |
ClinGen ESP TOPMed |
|
|
rs765990539 CA268977729 |
103 | V>L | No |
ClinGen Ensembl |
|
|
CA391922120 rs1234610588 |
108 | E>D | No |
ClinGen TOPMed |
|
|
CA268968655 rs1011898386 COSM554958 |
108 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs781364288 CA7468533 |
108 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755257307 CA7468531 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751794681 CA7468529 |
112 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393382098 CA391922063 |
117 | I>M | No |
ClinGen gnomAD |
|
|
CA391922068 rs1380917286 |
117 | I>V | No |
ClinGen gnomAD |
|
|
rs766114531 CA7468528 |
121 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA268968654 rs201383115 |
123 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7468526 rs146910158 |
123 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7468525 rs750370056 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757556558 CA7468524 |
125 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1450889968 CA391922014 |
125 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391922016 rs1450889968 |
125 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1373320456 CA391922013 |
126 | V>M | No |
ClinGen gnomAD |
|
|
rs761595092 CA7468523 |
128 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA391921969 rs1407801319 |
130 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391921970 rs1407801319 |
130 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs767186937 CA7468495 |
131 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391921960 rs1176839699 |
131 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1566914433 CA391921949 |
133 | L>F | No |
ClinGen Ensembl |
|
|
rs759054480 CA7468492 |
136 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268968209 rs201959314 |
136 | Q>H | No |
ClinGen Ensembl |
|
|
rs1179774655 CA391921914 |
138 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1444301622 CA391921910 |
139 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1243939129 CA391921903 |
140 | Y>C | No |
ClinGen gnomAD |
|
|
CA391921877 rs930768927 |
143 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 143 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234218775 CA391921845 |
147 | E>D | No |
ClinGen TOPMed |
|
|
CA7468490 rs770014356 |
149 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs920672304 CA268968206 |
152 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748690837 CA7468489 |
153 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs867195336 CA268968205 |
154 | I>M | No |
ClinGen TOPMed |
|
|
rs1455563612 CA391921783 |
157 | N>D | No |
ClinGen TOPMed |
|
|
CA7468486 rs533235178 |
158 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1174161687 CA391921774 |
158 | I>T | No |
ClinGen TOPMed |
|
|
rs533235178 CA7468485 |
158 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7468484 rs779936508 |
159 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7468483 rs758649328 |
159 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs990622214 CA268968204 |
161 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7468480 rs757023821 |
161 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs750653114 CA7468482 |
161 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757023821 CA391921758 |
161 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7468481 rs750653114 |
161 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7468479 rs370800281 |
162 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391921728 rs1302860856 |
165 | V>G | No |
ClinGen TOPMed |
|
|
rs565863034 CA7468478 |
168 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391922280 rs1297244652 |
171 | D>G | No |
ClinGen gnomAD |
|
|
rs1400157608 CA391922283 |
171 | D>N | No |
ClinGen TOPMed |
|
|
rs1273260594 CA391922276 |
172 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs142323760 CA7468456 |
173 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142323760 CA7468457 |
173 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA268963723 rs887731679 |
173 | D>H | No |
ClinGen TOPMed |
|
|
CA391922252 rs1337174800 |
175 | H>L | No |
ClinGen gnomAD |
|
|
rs1361003096 CA391922257 |
175 | H>Y | No |
ClinGen gnomAD |
|
|
rs1415279658 CA391922233 |
178 | K>R | No |
ClinGen gnomAD |
|
|
rs1316183542 CA391922226 |
179 | T>I | No |
ClinGen TOPMed |
|
|
rs1366141217 CA391922229 |
179 | T>P | No |
ClinGen gnomAD |
|
|
rs754256854 CA7468452 |
180 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391922221 rs754256854 |
180 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391922222 rs1302588681 |
180 | L>V | No |
ClinGen gnomAD |
|
|
rs761263253 CA7468450 |
181 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA268963722 rs978396059 |
183 | M>K | No |
ClinGen Ensembl |
|
|
rs775834601 CA7468449 |
183 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA391922196 rs1417732927 |
184 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs965501893 CA268963721 |
185 | P>L | No |
ClinGen TOPMed |
|
|
rs759530818 CA7468447 |
186 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA268963720 rs1006902430 |
188 | I>K | No |
ClinGen Ensembl |
|
|
rs199528007 CA7468446 |
188 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7468445 rs771154609 |
189 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1707988 rs1454773017 CA391921691 |
190 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1167481887 CA391921680 |
192 | K>E | No |
ClinGen TOPMed |
|
|
CA7468430 rs149996784 |
193 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760030551 CA7468429 |
194 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7468427 rs770958547 |
195 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA268960488 rs866750356 |
199 | C>R | No |
ClinGen Ensembl |
|
|
rs763186764 CA7468426 |
199 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773401816 CA7468425 |
200 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769674669 CA7468424 |
201 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs953949304 CA268960487 |
202 | G>S | No |
ClinGen Ensembl |
|
|
rs1167780757 CA391921601 |
204 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs974276367 CA268960486 |
207 | T>I | No |
ClinGen Ensembl |
|
|
CA7468421 rs768494184 |
208 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987622986 CA268960485 |
213 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765558502 CA7468418 |
213 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7468419 rs765558502 |
213 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750137666 CA7468417 |
216 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391921500 rs1267997569 |
219 | I>V | No |
ClinGen TOPMed |
|
|
rs1338930124 CA391921487 |
221 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs139330319 CA7468393 |
222 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1037836040 CA268959528 |
225 | E>D | No |
ClinGen Ensembl |
|
|
rs750519127 CA7468390 |
227 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA391921420 rs1487273441 |
229 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1358868996 CA391921403 |
232 | D>N | No |
ClinGen gnomAD |
|
|
CA7468386 rs763833562 |
233 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs10519996 CA391921373 |
236 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10519996 CA7468383 VAR_031404 |
236 | P>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7468384 rs775626252 |
236 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1678347 CA7468382 rs745733884 |
239 | Y>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7468381 rs547000751 |
241 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764647898 CA7468379 |
241 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7468380 rs764647898 |
241 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777452839 CA7468378 |
242 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1463199774 CA391921321 |
245 | L>* | No |
ClinGen gnomAD |
|
|
rs1222855547 CA391921309 |
246 | H>Q | No |
ClinGen TOPMed |
|
|
CA391921314 rs1373373096 |
246 | H>Y | No |
ClinGen gnomAD |
|
|
CA391921301 rs755403757 |
248 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755403757 CA7468375 |
248 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780431810 CA391921266 |
251 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780431810 CA7468352 |
251 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7468351 rs370898941 |
252 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs974588124 CA268959401 |
253 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1264097183 CA391921257 |
253 | S>P | No |
ClinGen TOPMed |
|
|
CA391921247 rs1307909085 |
254 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1384573771 CA391921237 |
255 | P>H | No |
ClinGen gnomAD |
|
|
CA391921238 rs1237439915 |
255 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7468349 rs779468977 |
257 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268959399 rs965195203 |
259 | R>T | No |
ClinGen TOPMed |
|
|
rs1320201496 CA391921196 |
260 | T>I | No |
ClinGen gnomAD |
|
|
rs1320201496 CA391921197 |
260 | T>K | No |
ClinGen gnomAD |
|
|
CA391921198 rs1358557705 |
260 | T>S | No |
ClinGen TOPMed |
|
|
rs757335464 CA7468348 |
261 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391921171 rs1446627656 |
263 | Y>F | No |
ClinGen gnomAD |
|
|
CA7468346 rs200030258 |
264 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1181546190 CA391921167 |
264 | I>V | No |
ClinGen gnomAD |
|
|
rs1445314088 CA391921155 |
265 | Y>C | No |
ClinGen TOPMed |
|
|
CA391921158 rs1595506594 |
265 | Y>H | No |
ClinGen Ensembl |
|
|
CA391921146 rs1244262370 |
266 | N>S | No |
ClinGen gnomAD |
|
|
rs1285641693 CA391921127 |
268 | F>L | No |
ClinGen TOPMed |
No associated diseases with Q7L8W6
1 regional properties for Q7L8W6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AP2/ERF domain | 26 - 90 | IPR001471 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.3.1.14 | Acid--ammonia (or amine) ligases (amide synthases) |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| diphthine-ammonia ligase activity | Catalysis of the reaction: ATP + diphthine + NH(4)(+) = ADP + diphthamide + H(+) + phosphate. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| peptidyl-diphthamide biosynthetic process from peptidyl-histidine | The modification of peptidyl-histidine to 2'-(3-carboxamido-3-(trimethylammonio)propyl)-L-histidine, known as diphthamide, found in translation elongation factor EF-2. The process occurs in eukaryotes and archaea but not eubacteria. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRVAALISGG | KDSCYNMMQC | IAAGHQIVAL | ANLRPAENQV | GSDELDSYMY | QTVGHHAIDL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YAEAMALPLY | RRTIRGRSLD | TRQVYTKCEG | DEVEDLYELL | KLVKEKEEVE | GISVGAILSD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YQRIRVENVC | KRLNLQPLAY | LWQRNQEDLL | REMISSNIQA | MIIKVAALGL | DPDKHLGKTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DQMEPYLIEL | SKKYGVHVCG | EGGEYETFTL | DCPLFKKKII | VDSSEVVIHS | ADAFAPVAYL |
| 250 | 260 | ||||
| RFLELHLEDK | VSSVPDNYRT | SNYIYNF |