Q9BZQ4
PR
Gene name |
NMNAT2 |
Protein name |
Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 |
Names |
NMN/NaMN adenylyltransferase 2, Nicotinamide mononucleotide adenylyltransferase 2, NMN adenylyltransferase 2, Nicotinate-nucleotide adenylyltransferase 2, NaMN adenylyltransferase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23057 |
EC number |
2.7.7.1: 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 Q9BZQ4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BZQ4-F1 | Predicted | AlphaFoldDB |
214 variants for Q9BZQ4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775499191 RCV000623445 |
135 | Q>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000624158 rs768849266 CA1283363 COSM1337010 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs897784610 CA34274865 |
2 | T>S | No |
ClinGen Ensembl |
|
|
CA343856127 rs1164211097 |
4 | T>I | No |
ClinGen gnomAD |
|
|
CA343856132 rs1394166321 |
4 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 6 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168683859 CA343856109 |
7 | T>N | No |
ClinGen gnomAD |
|
|
rs1571649948 CA343856097 |
9 | V>L | No |
ClinGen Ensembl |
|
|
CA34274863 rs199812045 |
10 | I>V | No |
ClinGen gnomAD |
|
|
rs1347693679 CA343856077 |
12 | L>F | No |
ClinGen TOPMed |
|
|
CA1283659 rs761280657 |
14 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs773916982 CA1283658 |
18 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA34274862 rs201912443 |
20 | I>T | No |
ClinGen Ensembl |
|
|
rs767705353 CA1283657 |
20 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 21 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343856015 rs1221884327 |
21 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338361825 CA343855991 |
25 | I>V | No |
ClinGen gnomAD |
|
|
CA1283654 rs201073414 |
26 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774414584 CA1283655 |
26 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343679839 rs1310818140 |
33 | D>H | No |
ClinGen gnomAD |
|
|
rs1384173495 CA343679823 |
33 | D>V | No |
ClinGen gnomAD |
|
|
CA343679805 rs1263439779 |
34 | Y>* | No |
ClinGen TOPMed |
|
|
rs1242957050 CA343679684 |
40 | R>G | No |
ClinGen TOPMed |
|
|
CA343679658 rs1433461849 |
40 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 41 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 42 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 42 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397335135 CA343679577 |
45 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567075118 CA1283600 |
47 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA33975577 rs945213099 |
48 | V>I | No |
ClinGen Ensembl |
|
|
rs747544567 CA1283597 |
50 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1283595 rs758481682 |
53 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343679276 rs1463429509 |
55 | Y>C | No |
ClinGen gnomAD |
|
|
COSM133985 CA343679215 rs1557869239 |
56 | G>E | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1214296212 CA343679220 |
56 | G>R | No |
ClinGen gnomAD |
|
|
COSM900799 CA343678667 rs1188292900 |
61 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs200201936 CA33975174 |
63 | S>R | No |
ClinGen Ensembl |
|
|
CA1283566 rs762590558 |
64 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA343678594 rs762590558 |
64 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1283567 rs201746612 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200887683 COSM1337013 CA1283565 |
66 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1419727720 CA343678462 |
70 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283563 rs369826550 |
74 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281422382 CA343678263 |
79 | W>* | No |
ClinGen gnomAD |
|
|
rs1234849654 CA343677700 |
83 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 84 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200628276 CA33974098 |
84 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867177204 CA33974091 |
87 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336389282 CA343677559 |
90 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1446890267 CA343677536 |
92 | W>* | No |
ClinGen gnomAD |
|
|
CA33974089 rs559396436 |
92 | W>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1283548 rs201582459 |
94 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382656912 CA343677500 |
95 | T>I | No |
ClinGen gnomAD |
|
|
rs1439964553 CA343677491 |
96 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 96 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156927483 CA343677469 |
97 | S>G | No |
ClinGen gnomAD |
|
|
CA343677458 rs199600444 |
97 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1283544 rs759119922 |
98 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA343677430 rs1232620946 |
100 | E>Q | No |
ClinGen TOPMed |
|
|
rs1471944448 CA343677372 |
103 | R>Q | No |
ClinGen gnomAD |
|
|
CA1283543 rs774728571 |
103 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs267598227 CA33972714 |
108 | R>K | No |
ClinGen gnomAD |
|
|
rs267598227 CA343676186 |
108 | R>M | No |
ClinGen gnomAD |
|
|
rs149250806 CA33972705 |
108 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs267598227 CA343676188 |
108 | R>T | No |
ClinGen gnomAD |
|
|
rs776132518 CA1283519 |
109 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1283518 rs769733481 |
111 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs41314643 CA1283517 |
113 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA33972700 rs867004245 |
116 | N>D | No |
ClinGen TOPMed |
|
|
rs867004245 CA343676026 |
116 | N>H | No |
ClinGen TOPMed |
|
|
CA33972683 rs201564348 |
118 | N>D | No |
ClinGen Ensembl |
|
|
CA343675934 rs1425076369 |
120 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190039480 CA343675923 |
121 | S>A | No |
ClinGen gnomAD |
|
|
CA343675915 rs1476737288 |
121 | S>F | No |
ClinGen gnomAD |
|
|
rs1405626959 CA343675899 |
122 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283513 rs200836216 |
127 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343675698 rs1452466792 |
129 | P>A | No |
ClinGen TOPMed |
|
|
rs1272127818 CA343675639 |
131 | N>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 132 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33972664 rs985073663 |
133 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA33972665 rs985073663 |
133 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778947909 CA1283510 |
133 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs754399670 CA1283509 |
134 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753422276 CA1283508 |
135 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA343675541 rs1558117289 |
135 | Q>P | No |
ClinGen Ensembl |
|
|
rs952269486 CA33972652 |
136 | P>L | No |
ClinGen Ensembl |
|
|
rs765954058 CA1283506 |
136 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1280235639 CA343675478 |
137 | I>M | No |
ClinGen gnomAD |
|
|
CA1283505 rs755777182 |
138 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201393407 CA1283503 |
140 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763416806 CA1283502 |
142 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343675216 rs1174524925 |
143 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1283500 rs199765030 |
143 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA343675202 rs1402973344 |
144 | A>S | No |
ClinGen gnomAD |
|
|
rs1409460333 CA343675162 |
144 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343675079 rs1249139944 |
147 | P>S | No |
ClinGen gnomAD |
|
|
CA343675033 rs1371591957 |
149 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1283498 rs776850598 |
149 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1283481 rs754453347 |
150 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343674398 rs1275149363 |
151 | K>E | No |
ClinGen gnomAD |
|
|
rs1348606825 CA343674390 |
151 | K>R | No |
ClinGen Ensembl |
|
|
rs1480487418 CA343674351 |
155 | K>E | No |
ClinGen gnomAD |
|
|
CA33971721 CA33971715 rs200270995 |
155 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1283480 rs766561849 |
156 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs904507151 CA33971710 |
159 | S>R | No |
ClinGen TOPMed |
|
|
CA343674301 rs1321352608 |
160 | L>F | No |
ClinGen gnomAD |
|
|
CA343674306 rs1321352608 |
160 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1283478 rs137936356 |
162 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1337011 CA1283479 rs760875625 |
162 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs78366765 CA1283477 |
166 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1283476 rs761449746 |
167 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1283475 rs201228432 |
167 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201228432 CA1283474 |
167 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1283472 rs199860522 |
168 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM900798 CA1283469 rs201215509 |
169 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201604722 CA1283464 |
172 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1430062031 CA343674105 |
172 | R>S | No |
ClinGen gnomAD |
|
|
CA33971670 rs200485972 |
174 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 176 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283448 rs563313599 |
177 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343673814 rs1274291979 |
180 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368073648 CA1283446 |
183 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756704123 CA1283444 |
184 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343673730 rs1329963956 |
185 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1283442 rs767634544 |
186 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1283441 rs757324951 |
187 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM273020 rs1322178575 CA343673685 |
187 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs764247192 CA1283439 |
190 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764247192 CA1283440 |
190 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343672242 rs1299575938 |
192 | E>A | No |
ClinGen gnomAD |
|
|
rs750452714 CA1283396 |
194 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199571472 CA33968886 |
194 | R>W | No |
ClinGen Ensembl |
|
| TCGA novel | 197 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761461234 CA1283394 |
200 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA343671919 rs1403832980 |
206 | S>T | No |
ClinGen gnomAD |
|
|
CA343671904 rs774102538 |
207 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA343671892 rs200493890 |
207 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774102538 CA1283393 |
207 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs142950201 CA1283391 |
208 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747461955 CA1283388 |
212 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200985598 CA33968854 |
215 | E>K | No |
ClinGen Ensembl |
|
|
rs779065488 CA1283384 |
216 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs779065488 CA343671628 |
216 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA343671639 rs1276430302 |
216 | A>T | No |
ClinGen gnomAD |
|
|
CA1283365 rs202060911 |
218 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212075341 CA343667964 |
222 | V>I | No |
ClinGen gnomAD |
|
|
CA343667891 rs1312702648 |
225 | F>Y | No |
ClinGen gnomAD |
|
|
rs774402680 CA1283364 |
227 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1319312170 CA343667838 |
229 | V>M | No |
ClinGen TOPMed |
|
|
rs1382955168 CA343667792 |
232 | R>W | No |
ClinGen TOPMed |
|
|
CA1283362 rs749441107 |
233 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343667763 rs1571556875 |
234 | A>P | No |
ClinGen Ensembl |
|
|
rs564457240 CA1283360 COSM3934326 COSM3934325 |
236 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1283359 rs369146499 |
239 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343667663 rs1304976212 |
240 | I>N | No |
ClinGen gnomAD |
|
|
rs200515700 CA33961095 |
242 | N>S | No |
ClinGen TOPMed |
|
|
CA343667608 rs1208418706 |
243 | H>P | No |
ClinGen TOPMed |
|
|
rs1449314332 CA343667611 |
243 | H>Y | No |
ClinGen gnomAD |
|
|
CA33961091 rs376604367 |
245 | S>L | No |
ClinGen ESP TOPMed |
|
|
rs1462752202 CA343667550 |
246 | I>T | No |
ClinGen TOPMed |
|
|
CA1283358 rs781211767 |
247 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283357 rs200858529 |
248 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751602328 CA1283356 |
248 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA343667473 rs757961901 |
250 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA343667483 rs1472065860 |
250 | Y>H | No |
ClinGen gnomAD |
|
|
rs757182165 CA1283339 |
252 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451605225 CA343667084 |
255 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1283338 rs370701366 |
255 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424145334 CA343667036 |
259 | D>G | No |
ClinGen gnomAD |
|
|
rs752283426 CA1283335 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs150367902 CA33961024 |
264 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283334 rs764728673 |
264 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs150367902 CA33961018 COSM108569 |
264 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA343666965 rs1208185172 |
265 | M>I | No |
ClinGen gnomAD |
|
|
CA343666975 rs1248655452 |
265 | M>L | No |
ClinGen gnomAD |
|
|
rs754637993 CA1283333 |
266 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs145729987 CA1283332 |
267 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767838476 CA1283331 |
268 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33960996 rs140845219 |
271 | T>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1283328 rs764697070 |
273 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA343665535 rs1411722002 |
278 | Q>K | No |
ClinGen TOPMed |
|
|
rs779703882 CA1283314 |
279 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA343665508 rs1571551320 |
279 | H>Q | No |
ClinGen Ensembl |
|
|
CA343665490 rs1571551312 |
281 | D>A | No |
ClinGen Ensembl |
|
|
CA1283313 rs751961308 |
281 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs751961308 CA1283312 |
281 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1558105428 COSM158671 CA343665479 |
282 | G>S | lung Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA343665460 rs1163975114 |
283 | H>R | No |
ClinGen TOPMed |
|
|
CA343665454 rs1167202874 |
284 | V>I | No |
ClinGen gnomAD |
|
|
rs763506772 CA1283310 |
285 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1571551282 CA343665413 |
287 | Y>S | No |
ClinGen Ensembl |
|
|
rs1432733064 CA343665390 |
289 | S>P | No |
ClinGen gnomAD |
|
|
CA1283307 rs759737274 |
291 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343665357 rs759737274 |
291 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343665327 rs1194525447 COSM1217519 |
294 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 295 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1283303 rs773073419 |
305 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA33955803 rs938604454 |
306 | S>Y | No |
ClinGen TOPMed |
|
|
rs1229874213 CA343665151 |
307 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200881924 CA33955787 |
308 | G>W | No |
ClinGen gnomAD |
|
|
rs748088339 CA343665123 |
308 | G>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BZQ4
1 regional properties for Q9BZQ4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cytidyltransferase-like domain | 12 - 274 | IPR004821 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.1 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| nicotinamide-nucleotide adenylyltransferase activity | Catalysis of the reaction: ATP + nicotinamide nucleotide = diphosphate + NAD+. |
| nicotinate-nucleotide adenylyltransferase activity | Catalysis of the reaction: ATP + nicotinate ribonucleotide = diphosphate + deamido-NAD+. |
| protein ADP-ribosyltransferase-substrate adaptor activity | An enzyme-substrate adaptor that bings together a protein ADP-ribosyl transferase and its substrate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| NAD biosynthetic process | The chemical reactions and pathways resulting in the formation of nicotinamide adenine dinucleotide, a coenzyme present in most living cells and derived from the B vitamin nicotinic acid; biosynthesis may be of either the oxidized form, NAD, or the reduced form, NADH. |
| nucleotide biosynthetic process | The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q99JR6 | Nmnat3 | Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 | Mus musculus (Mouse) | PR |
| P91851 | nmat-2 | Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 | Caenorhabditis elegans | PR |
| Q6PC93 | nmnat2 | Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTETTKTHVI | LLACGSFNPI | TKGHIQMFER | ARDYLHKTGR | FIVIGGIVSP | VHDSYGKQGL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSSRHRLIMC | QLAVQNSDWI | RVDPWECYQD | TWQTTCSVLE | HHRDLMKRVT | GCILSNVNTP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SMTPVIGQPQ | NETPQPIYQN | SNVATKPTAA | KILGKVGESL | SRICCVRPPV | ERFTFVDENA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLGTVMRYEE | IELRILLLCG | SDLLESFCIP | GLWNEADMEV | IVGDFGIVVV | PRDAADTDRI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MNHSSILRKY | KNNIMVVKDD | INHPMSVVSS | TKSRLALQHG | DGHVVDYLSQ | PVIDYILKSQ |
| LYINASG |