Q8N5Z0
Gene name |
AADAT |
Protein name |
Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial |
Names |
KAT/AadAT, 2-aminoadipate aminotransferase, 2-aminoadipate transaminase, Alpha-aminoadipate aminotransferase, AadAT, Glycine transaminase AADAT, Kynurenine aminotransferase II, Kynurenine--glyoxylate transaminase AADAT, Kynurenine--oxoglutarate aminotransferase II, Kynurenine--oxoglutarate transaminase 2, Kynurenine--oxoglutarate transaminase II, Methionine--glyoxylate transaminase AADAT |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51166 |
EC number |
2.6.1.4: Transaminases |
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
18 structures for Q8N5Z0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QLR | X-ray | 230 A | A/B/C/D | 1-425 | PDB |
| 2R2N | X-ray | 195 A | A/B/C/D | 1-425 | PDB |
| 2VGZ | X-ray | 230 A | A/B | 2-425 | PDB |
| 2XH1 | X-ray | 210 A | A/B | 1-425 | PDB |
| 3DC1 | X-ray | 250 A | A/B/C/D | 1-425 | PDB |
| 3UE8 | X-ray | 322 A | A/B | 1-425 | PDB |
| 4GDY | X-ray | 289 A | A/B | 1-425 | PDB |
| 4GE4 | X-ray | 241 A | A/B | 1-425 | PDB |
| 4GE7 | X-ray | 210 A | A/B | 1-425 | PDB |
| 4GE9 | X-ray | 243 A | A/B/C/D | 1-425 | PDB |
| 4GEB | X-ray | 215 A | A/B | 1-425 | PDB |
| 5EFS | X-ray | 183 A | A | 1-425 | PDB |
| 5EUN | X-ray | 182 A | A | 1-425 | PDB |
| 5TF5 | X-ray | 181 A | A/B | 1-425 | PDB |
| 6D0A | X-ray | 147 A | A | 1-425 | PDB |
| 6T8P | X-ray | 202 A | A/B | 1-425 | PDB |
| 6T8Q | X-ray | 251 A | A | 1-425 | PDB |
| AF-Q8N5Z0-F1 | Predicted | AlphaFoldDB |
221 variants for Q8N5Z0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA358757759 rs1425816123 |
4 | A>G | No |
ClinGen gnomAD |
|
|
rs1467125404 CA358757763 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs1191628150 CA358757756 |
5 | R>W | No |
ClinGen gnomAD |
|
|
CA109985205 rs1017430781 |
9 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA109985204 rs1040775617 |
11 | S>N | No |
ClinGen gnomAD |
|
|
CA3139642 rs751685780 |
12 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1199772636 CA358757682 |
16 | P>L | No |
ClinGen gnomAD |
|
|
rs1320649412 CA358757677 |
17 | S>C | No |
ClinGen gnomAD |
|
|
CA358757676 rs1320649412 |
17 | S>F | No |
ClinGen gnomAD |
|
|
rs1255576778 CA358757661 |
20 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1217522047 CA358757645 |
22 | M>I | No |
ClinGen gnomAD |
|
|
rs766029947 CA3139614 |
24 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482445104 CA358757222 |
25 | I>V | No |
ClinGen gnomAD |
|
|
CA109984977 rs768749259 |
27 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1339110095 CA358757178 |
28 | R>K | No |
ClinGen TOPMed |
|
|
rs1265427621 CA358757164 |
29 | G>E | No |
ClinGen gnomAD |
|
|
CA3139610 rs761367463 |
33 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3139609 rs777046313 |
35 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358757052 rs1490727321 |
37 | A>S | No |
ClinGen TOPMed |
|
|
CA3139608 rs769204528 |
38 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA109984971 rs930770122 |
39 | G>D | No |
ClinGen Ensembl |
|
|
rs973609669 CA109984970 |
41 | P>Q | No |
ClinGen Ensembl |
|
|
CA358756993 rs1209123754 |
42 | N>S | No |
ClinGen gnomAD |
|
|
rs747437640 CA3139607 |
45 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA358756916 rs1220589433 |
47 | P>R | No |
ClinGen gnomAD |
|
|
CA3139604 rs746038548 |
52 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139605 rs772428576 |
52 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA109984965 rs921999105 |
54 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1242683262 CA358756857 |
55 | V>A | No |
ClinGen TOPMed |
|
|
rs1322027631 CA358756851 |
56 | E>G | No |
ClinGen gnomAD |
|
|
CA358756843 rs1448811842 |
57 | N>S | No |
ClinGen TOPMed |
|
|
CA358756827 rs1401709165 |
59 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1440757922 CA358756829 |
59 | K>R | No |
ClinGen gnomAD |
|
|
rs1172181698 CA358756824 |
60 | T>A | No |
ClinGen gnomAD |
|
|
rs1386862575 CA358756813 |
61 | I>M | No |
ClinGen TOPMed |
|
|
rs201523439 CA3139603 |
62 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA109984964 rs974776383 |
62 | Q>R | No |
ClinGen Ensembl |
|
|
CA3139602 rs757318974 |
63 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs200677642 CA3139601 |
66 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA109984963 rs372381527 |
67 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 71 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751355240 CA3139598 |
76 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762619514 CA3139596 |
78 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA358756580 rs1456458045 |
79 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358756420 rs1200059484 |
83 | L>P | No |
ClinGen TOPMed |
|
|
CA358756406 rs1362163974 |
85 | S>F | No |
ClinGen gnomAD |
|
|
CA358756381 rs1254397449 |
89 | Q>* | No |
ClinGen TOPMed |
|
|
rs1367388200 CA358756377 |
89 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA358756374 rs1187409797 |
90 | L>V | No |
ClinGen gnomAD |
|
|
rs373520837 CA109984757 |
95 | H>R | No |
ClinGen Ensembl |
|
|
CA358756318 rs1184561713 |
97 | P>L | No |
ClinGen gnomAD |
|
|
rs1581598831 CA358756311 |
99 | T>P | No |
ClinGen Ensembl |
|
|
rs763621026 CA3139567 |
102 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs17852900 CA358756269 |
103 | P>L | No |
ClinGen gnomAD |
|
|
rs17852900 CA109984755 |
103 | P>Q | No |
ClinGen gnomAD |
|
|
CA358756280 rs1581598818 |
103 | P>T | No |
ClinGen Ensembl |
|
|
rs1471887450 CA358756239 |
106 | Q>K | No |
ClinGen TOPMed |
|
|
rs1182519128 CA358756220 |
107 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3139565 rs565975733 |
109 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 111 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358756131 rs1373200177 |
112 | C>R | No |
ClinGen TOPMed |
|
|
CA358756121 rs1187434478 |
112 | C>S | No |
ClinGen gnomAD |
|
|
rs774717219 CA3139562 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1256387233 CA358756058 |
115 | S>C | No |
ClinGen gnomAD |
|
|
CA358756005 rs368592471 |
118 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358755932 rs1389603283 |
123 | K>R | No |
ClinGen TOPMed |
|
|
rs748288798 CA3139538 |
126 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776636092 CA358753570 CA3139537 |
127 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772003106 CA3139536 |
129 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1053212 CA358753528 rs1561020255 |
130 | N>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA358753428 rs1164845687 |
135 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1439397784 CA358753377 |
138 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 142 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358753309 rs1368167584 |
147 | Q>R | No |
ClinGen TOPMed |
|
|
rs1394874229 CA358752061 |
150 | H>Y | No |
ClinGen gnomAD |
|
|
CA109980469 rs778929860 |
151 | P>S | No |
ClinGen Ensembl |
|
|
CA358752020 rs1475000767 |
156 | I>T | No |
ClinGen TOPMed |
|
|
CA3139511 rs747749864 |
156 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139510 rs780966008 |
160 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3139509 rs754560049 |
161 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751031083 CA3139508 |
163 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358751940 rs1257462322 |
168 | P>S | No |
ClinGen gnomAD |
|
|
CA358751932 rs1208284368 |
169 | D>A | No |
ClinGen gnomAD |
|
|
rs750792452 CA3139505 |
172 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs267600079 CA109980441 |
172 | R>K | No |
ClinGen gnomAD |
|
|
rs267600079 CA358751916 |
172 | R>T | No |
ClinGen gnomAD |
|
|
rs1390948545 CA358751898 |
174 | I>M | No |
ClinGen gnomAD |
|
|
rs1304930129 CA358751900 |
174 | I>T | No |
ClinGen gnomAD |
|
|
rs765548846 CA3139504 |
177 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs765548846 CA358751883 |
177 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3139503 rs762045577 |
178 | W>L | No |
ClinGen ExAC |
|
|
CA358751843 rs1304752701 |
182 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754110103 CA3139502 |
186 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754110103 CA358751815 |
186 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358751798 rs1375181883 |
187 | Q>H | No |
ClinGen gnomAD |
|
|
CA358751806 rs1239347023 |
187 | Q>R | No |
ClinGen gnomAD |
|
|
rs764216489 CA3139501 |
189 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010300173 CA109980409 |
189 | N>I | No |
ClinGen Ensembl |
|
|
CA358751764 rs1362627395 COSM1539899 |
190 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA109980402 rs891439256 COSM1695258 |
192 | K>R | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs775374457 CA3139499 |
193 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1162961104 CA358751715 |
194 | L>I | No |
ClinGen TOPMed |
|
|
rs1257675827 CA358751693 |
195 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA358751604 rs1485157498 |
199 | N>D | No |
ClinGen gnomAD |
|
|
CA3139496 rs773158625 |
210 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1052188225 CA358751361 |
211 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1295236919 CA358751354 |
212 | R>C | No |
ClinGen gnomAD |
|
|
rs1355118438 CA358751325 |
214 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA358751248 rs1402318441 |
217 | Y>C | No |
ClinGen gnomAD |
|
|
rs1453241692 CA358750270 |
220 | A>V | No |
ClinGen gnomAD |
|
|
CA358749989 rs1212996721 |
222 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 225 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358749918 rs1581576448 |
228 | I>K | No |
ClinGen Ensembl |
|
|
rs773320216 CA358749919 |
228 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773320216 CA3139473 |
228 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358749904 rs1269735608 |
230 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358749886 rs1170592122 |
232 | P>R | No |
ClinGen TOPMed |
|
|
CA358749888 rs1216507753 |
232 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358749884 rs1337738611 |
233 | Y>N | No |
ClinGen gnomAD |
|
|
rs545729940 CA109979202 |
234 | Y>C | No |
ClinGen gnomAD |
|
|
CA3139471 rs776235647 |
237 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3139469 rs557457280 |
239 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3139468 rs377049488 |
240 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs56350236 CA3139453 VAR_061005 |
243 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3139452 rs753702003 |
245 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1172823661 CA358749762 |
249 | M>V | No |
ClinGen gnomAD |
|
|
rs1420207635 CA358749742 |
251 | V>A | No |
ClinGen gnomAD |
|
|
CA358749723 rs1272660297 |
254 | R>H | No |
ClinGen gnomAD |
|
|
rs1272660297 CA358749722 |
254 | R>L | No |
ClinGen gnomAD |
|
|
rs763749090 CA3139451 |
254 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA358749721 rs1260243523 |
255 | V>I | No |
ClinGen TOPMed |
|
|
CA358749698 rs1179017809 |
258 | A>D | No |
ClinGen gnomAD |
|
|
rs1581574546 CA358749667 |
263 | K>Q | No |
ClinGen Ensembl |
|
|
rs1561013778 CA358749649 |
265 | I>T | No |
ClinGen Ensembl |
|
|
rs760496804 CA3139450 |
265 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358749597 rs1429916730 |
271 | I>M | No |
ClinGen gnomAD |
|
|
rs1350460338 CA358749594 |
272 | G>R | No |
ClinGen gnomAD |
|
|
rs1326662965 CA358749565 |
276 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773871959 CA3139427 |
283 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1487212742 CA358749516 CA358749517 |
283 | R>S | No |
ClinGen TOPMed |
|
|
rs151231482 CA109978429 |
284 | V>I | No |
ClinGen ESP |
|
| TCGA novel | 285 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3139425 rs770474107 |
285 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA109978423 rs1030363229 |
286 | L>F | No |
ClinGen Ensembl |
|
|
rs762489440 CA3139424 |
287 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs773656274 CA3139423 |
288 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139421 rs748477745 |
291 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781637765 CA3139420 |
294 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1198839695 CA358749365 |
299 | N>D | No |
ClinGen gnomAD |
|
|
rs1581573616 CA358749355 |
299 | N>K | No |
ClinGen Ensembl |
|
|
rs780401971 CA3139417 |
299 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358749344 rs1293166075 |
300 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3139393 rs368676033 |
303 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358749217 rs1247831886 |
303 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA358749232 rs368676033 |
303 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142229838 CA3139392 |
304 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358749139 rs779009351 |
308 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581571680 CA358749149 |
308 | H>Y | No |
ClinGen Ensembl |
|
|
rs368304372 CA3139389 |
309 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748131877 CA3139388 |
310 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992651734 CA109977913 |
318 | H>Y | No |
ClinGen TOPMed |
|
|
CA358748966 rs1561012545 |
319 | V>I | No |
ClinGen Ensembl |
|
|
rs781071963 CA3139387 |
320 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA358748955 rs1261169161 |
320 | D>N | No |
ClinGen gnomAD |
|
|
rs754830422 CA3139386 |
321 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs754848971 CA3139367 |
322 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs545144600 CA3139366 |
323 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3139365 rs779862124 |
325 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3139364 rs369026657 |
326 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116082202 CA3139363 |
327 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs921398428 CA109977552 |
331 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA358747291 rs1366770056 |
338 | D>E | No |
ClinGen TOPMed |
|
|
rs147615281 CA3139360 |
342 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455567118 CA358746806 |
347 | W>R | No |
ClinGen gnomAD |
|
|
rs145190544 CA3139340 |
348 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1191892782 CA358746757 |
349 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290781761 CA358746383 |
365 | D>N | No |
ClinGen TOPMed |
|
|
rs374628121 CA3139337 |
366 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358746197 rs1337799234 |
370 | I>T | No |
ClinGen gnomAD |
|
|
CA3139336 rs751810308 |
372 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA358746101 rs1235619186 |
374 | A>T | No |
ClinGen gnomAD |
|
|
rs766590826 CA3139335 |
374 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA109976947 rs755665287 |
375 | V>A | No |
ClinGen Ensembl |
|
|
CA358746069 rs200099784 |
375 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200099784 CA3139332 |
375 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358746028 rs1292066664 |
376 | K>N | No |
ClinGen TOPMed |
|
|
rs1490064762 CA358746020 |
377 | M>L | No |
ClinGen TOPMed |
|
|
rs1561010805 CA358746014 |
377 | M>T | No |
ClinGen Ensembl |
|
|
CA358745961 rs1356225307 |
378 | G>E | No |
ClinGen gnomAD |
|
|
rs1160415427 CA358744624 |
379 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471723874 CA358744601 |
380 | L>S | No |
ClinGen gnomAD |
|
|
CA3139314 CA3139315 rs765444553 |
381 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs762011420 CA3139313 |
382 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1446118862 CA358744528 |
383 | P>L | No |
ClinGen TOPMed |
|
|
rs1446118862 CA358744526 |
383 | P>R | No |
ClinGen TOPMed |
|
|
rs1486831747 CA358744490 |
385 | N>S | No |
ClinGen gnomAD |
|
|
CA358744429 rs1255889934 |
388 | Y>H | No |
ClinGen gnomAD |
|
|
CA3139311 rs767495658 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139310 rs139598358 |
390 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376931614 CA3139309 |
391 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358744359 rs1293468526 |
392 | S>T | No |
ClinGen gnomAD |
|
|
rs1234770102 CA358744300 |
395 | S>C | No |
ClinGen gnomAD |
|
|
CA358744239 rs1283419238 |
397 | Y>C | No |
ClinGen gnomAD |
|
|
rs1455646499 CA358744048 |
404 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358743858 rs1388012625 |
411 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3139304 rs780525079 |
412 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3139303 rs780525079 |
412 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1220181330 CA358743650 |
415 | Q>E | No |
ClinGen gnomAD |
|
|
CA358743634 rs1487298471 |
416 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA358743552 rs1302880252 |
421 | I>V | No |
ClinGen TOPMed |
No associated diseases with Q8N5Z0
1 regional properties for Q8N5Z0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aminotransferase, class I/classII | 59 - 415 | IPR004839 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.6.1.4 | Transaminases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2-aminoadipate transaminase activity | Catalysis of the reaction: 2-oxoglutarate + L-2-aminoadipate = 2-oxoadipate + L-glutamate. |
| glycine:2-oxoglutarate aminotransferase activity | Catalysis of the reaction: glycine + 2-oxoglutarate = glyoxylate + L-glutamate. |
| kynurenine-glyoxylate transaminase activity | Catalysis of the reaction: L-kynurenine + glyoxylate = 4-(2-aminophenyl)-2,4-dioxobutanoate + glycine. |
| kynurenine-oxoglutarate transaminase activity | Catalysis of the reaction: L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate. |
| methionine-glyoxylate transaminase activity | Catalysis of the reaction: L-methionine + glyoxylate = 4-methylthio-2-oxobutanoate + glycine. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| pyridoxal phosphate binding | Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6. |
| transaminase activity | Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| 2-oxoglutarate metabolic process | The chemical reactions and pathways involving oxoglutarate, the dianion of 2-oxoglutaric acid. It is a key constituent of the TCA cycle and a key intermediate in amino-acid metabolism. |
| alpha-amino acid metabolic process | The chemical reactions and pathways involving an alpha-amino acid. |
| biosynthetic process | The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. |
| glutamate metabolic process | The chemical reactions and pathways involving glutamate, the anion of 2-aminopentanedioic acid. |
| kynurenine metabolic process | The chemical reactions and pathways involving kynurenine, the amino acid 3-(2-aminobenzoyl)-alanine. |
| L-lysine catabolic process to acetyl-CoA via saccharopine | The chemical reactions and pathways resulting in the breakdown of L-lysine into other compounds, including acetyl-CoA, via the intermediate saccharopine. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNYARFITAA | SAARNPSPIR | TMTDILSRGP | KSMISLAGGL | PNPNMFPFKT | AVITVENGKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IQFGEEMMKR | ALQYSPSAGI | PELLSWLKQL | QIKLHNPPTI | HYPPSQGQMD | LCVTSGSQQG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LCKVFEMIIN | PGDNVLLDEP | AYSGTLQSLH | PLGCNIINVA | SDESGIVPDS | LRDILSRWKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDAKNPQKNT | PKFLYTVPNG | NNPTGNSLTS | ERKKEIYELA | RKYDFLIIED | DPYYFLQFNK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FRVPTFLSMD | VDGRVIRADS | FSKIISSGLR | IGFLTGPKPL | IERVILHIQV | STLHPSTFNQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LMISQLLHEW | GEEGFMAHVD | RVIDFYSNQK | DAILAAADKW | LTGLAEWHVP | AAGMFLWIKV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KGINDVKELI | EEKAVKMGVL | MLPGNAFYVD | SSAPSPYLRA | SFSSASPEQM | DVAFQVLAQL |
| IKESL |