Q5VZE5
Gene name |
NAA35 (EGAP, MAK10) |
Protein name |
N-alpha-acetyltransferase 35, NatC auxiliary subunit |
Names |
Embryonic growth-associated protein homolog, Protein MAK10 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:60560 |
EC number |
|
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
3 structures for Q5VZE5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MX2 | EM | 364 A | B | 1-725 | PDB |
| 7RB3 | EM | 310 A | B | 28-725 | PDB |
| AF-Q5VZE5-F1 | Predicted | AlphaFoldDB |
355 variants for Q5VZE5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5107002 rs201727123 |
2 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5107003 rs770582929 |
5 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1376360183 CA374012191 |
6 | S>Y | No |
ClinGen gnomAD |
|
|
CA196028038 rs148048804 |
10 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374012257 rs1339684979 |
15 | E>D | No |
ClinGen gnomAD |
|
|
rs760110240 CA5107008 |
15 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107009 rs763748433 |
16 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5107010 rs753435532 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA196028039 rs75312270 |
20 | E>G | No |
ClinGen Ensembl |
|
|
CA5107011 rs757669473 |
21 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 21 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107013 rs750780761 |
22 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5107012 rs779182959 |
22 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374012301 rs779182959 |
22 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374012326 rs1328236099 |
25 | S>N | No |
ClinGen TOPMed |
|
|
rs1587542520 COSM1625204 CA374012333 |
26 | N>D | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA196028040 rs909301177 |
26 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs141793339 CA5107014 |
28 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410927580 CA374012389 |
34 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1434423007 CA374012397 |
35 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 38 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196028041 rs972084249 |
38 | E>D | No |
ClinGen Ensembl |
|
|
rs1348985667 CA374012426 |
39 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747094178 CA5107016 |
41 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA196029687 rs370006365 |
52 | K>N | No |
ClinGen ESP |
|
|
CA5107067 rs752722386 |
63 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756160916 CA5107068 |
73 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs577757092 CA5107070 |
75 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5107069 rs777879548 |
75 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196029944 rs1052522576 |
76 | G>* | No |
ClinGen Ensembl |
|
|
CA374012742 rs1396175245 |
80 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219644995 CA374012762 |
83 | V>I | No |
ClinGen TOPMed |
|
|
CA5107071 rs186312968 |
84 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5107073 rs374811138 |
85 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196029945 rs374811138 |
85 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196029946 rs1027964774 |
87 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867549458 CA196029947 |
90 | I>M | No |
ClinGen Ensembl |
|
|
CA5107074 rs768650366 |
90 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5107075 rs781120262 |
91 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA374012816 rs1210796653 |
91 | K>R | No |
ClinGen gnomAD |
|
|
rs532785405 CA5107096 |
92 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5107097 rs781017755 |
93 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473769434 CA374012850 |
94 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1473769434 CA374012849 |
94 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 95 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374012859 rs1175789443 |
96 | K>E | No |
ClinGen gnomAD |
|
|
rs369617303 CA5107098 |
97 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433370143 CA374012870 |
97 | I>T | No |
ClinGen gnomAD |
|
|
CA374012885 rs1177818091 COSM487628 |
99 | D>A | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 99 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107099 rs769588153 |
101 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1169371539 CA374012908 |
103 | P>S | No |
ClinGen gnomAD |
|
|
rs1407932954 CA374012927 |
106 | I>T | No |
ClinGen gnomAD |
|
|
CA5107101 rs150816044 |
106 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1587573803 CA374012936 |
107 | G>V | No |
ClinGen Ensembl |
|
|
CA5107102 rs374479341 |
109 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374012966 rs1220015376 |
112 | C>S | No |
ClinGen gnomAD |
|
|
CA5107105 rs41283649 |
116 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5107104 rs41283649 |
116 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1110740 rs144270495 CA5107121 |
118 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5107124 rs775977172 |
123 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 124 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196030339 rs1039079430 |
127 | Q>R | No |
ClinGen gnomAD |
|
|
CA196030340 COSM197759 rs773291296 |
131 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA5107129 rs765264658 |
133 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs140125010 CA5107130 |
135 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440385653 CA374013144 |
136 | H>R | No |
ClinGen gnomAD |
|
|
rs267602297 CA196030341 |
136 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 138 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374013162 rs1321522157 |
139 | D>H | No |
ClinGen gnomAD |
|
|
CA5107132 rs766499285 |
141 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1230527682 CA374013203 |
144 | P>L | No |
ClinGen gnomAD |
|
|
CA5107134 rs371200239 |
144 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196030342 rs759509980 |
145 | A>T | No |
ClinGen Ensembl |
|
|
rs149812553 CA374013209 |
146 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5107135 rs149812553 |
146 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA196030344 rs1021831791 |
150 | A>V | No |
ClinGen Ensembl |
|
|
CA374013247 rs1196112294 |
151 | L>P | No |
ClinGen TOPMed |
|
|
rs753785955 CA5107136 |
153 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA374013292 rs1421179110 |
158 | D>H | No |
ClinGen gnomAD |
|
|
CA5107139 rs374901096 |
160 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374013306 rs374901096 |
160 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374013394 rs1473714235 |
172 | E>G | No |
ClinGen gnomAD |
|
|
rs201748422 CA5107183 |
178 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374013472 rs372488081 |
180 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196031904 rs931510949 |
183 | K>Q | No |
ClinGen TOPMed |
|
|
CA374013505 rs1253824838 |
185 | A>S | No |
ClinGen TOPMed |
|
|
CA196031905 rs1048515551 |
185 | A>V | No |
ClinGen TOPMed |
|
|
CA5107185 rs751063091 |
186 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA196031906 rs906143601 |
187 | S>G | No |
ClinGen TOPMed |
|
|
CA196031907 rs200590081 |
187 | S>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs907711874 CA196031908 |
190 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 190 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 196 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 199 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564300679 CA374013668 |
207 | R>I | No |
ClinGen Ensembl |
|
| TCGA novel | 209 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 212 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374013760 rs1564301637 |
219 | R>G | No |
ClinGen Ensembl |
|
|
CA374013770 rs1474521915 |
220 | D>G | No |
ClinGen gnomAD |
|
|
CA196032065 rs909755126 |
222 | E>Q | No |
ClinGen TOPMed |
|
|
CA374013788 rs1179193080 |
223 | V>I | No |
ClinGen TOPMed |
|
|
rs377076239 CA196032134 |
228 | Q>E | No |
ClinGen ESP |
|
|
rs1481849782 CA374013848 |
229 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107226 rs760373850 |
234 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249457935 CA374013885 |
235 | S>G | No |
ClinGen gnomAD |
|
|
rs201019890 CA5107227 |
235 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 239 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374013934 rs1392754201 CA374013933 |
242 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1392754201 CA374013932 |
242 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5107229 rs200371490 |
245 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5107230 rs765683563 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA374013978 rs1446369131 |
249 | A>V | No |
ClinGen gnomAD |
|
|
rs1372799082 CA374013980 |
250 | F>I | No |
ClinGen gnomAD |
|
|
CA374013987 rs1241369564 |
251 | T>P | No |
ClinGen TOPMed |
|
| rs1222360856 | 255 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760165501 CA5107244 |
258 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5107245 rs760165501 |
258 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5107246 rs776297747 |
259 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373929526 rs1215139066 |
259 | A>T | No |
ClinGen gnomAD |
|
|
CA5107248 rs368919696 |
261 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107249 rs750796057 |
264 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs763613794 CA5107250 |
265 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs751698413 CA5107252 |
269 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5107254 rs781294752 |
270 | D>G | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA373929860 rs1587607891 |
270 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA373929906 rs1564302692 |
271 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 272 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107255 rs147227765 |
273 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA195491285 rs201778443 |
274 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA195491293 rs966706045 |
275 | I>T | No |
ClinGen Ensembl |
|
|
CA373929980 rs1380913352 |
275 | I>V | No |
ClinGen TOPMed |
|
|
CA373930021 rs1369261710 |
276 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107257 rs201461279 |
279 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs978515280 CA195491337 |
280 | H>D | No |
ClinGen Ensembl |
|
|
CA373930128 rs1429207032 |
280 | H>P | No |
ClinGen gnomAD |
|
|
CA373930137 rs1270165452 |
280 | H>Q | No |
ClinGen gnomAD |
|
|
rs1429207032 CA373930129 |
280 | H>R | No |
ClinGen gnomAD |
|
|
rs978515280 CA373930125 |
280 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 281 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745654883 CA5107258 |
281 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294728639 CA373930200 |
283 | I>V | No |
ClinGen gnomAD |
|
|
CA373930227 rs1235591820 |
284 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1291836069 CA373930273 |
285 | A>V | No |
ClinGen gnomAD |
|
|
rs150925033 CA5107259 |
286 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373930348 rs1205379353 |
289 | T>A | No |
ClinGen gnomAD |
|
|
CA195491364 rs939258797 |
290 | T>A | No |
ClinGen Ensembl |
|
|
CA373933894 rs1477466983 |
293 | D>V | No |
ClinGen gnomAD |
|
|
CA5107303 rs755639844 |
294 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373933902 rs1274104523 |
294 | H>Q | No |
ClinGen gnomAD |
|
|
rs141991899 CA5107304 |
296 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5107305 rs748991357 |
298 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1280467212 CA373933971 |
304 | V>A | No |
ClinGen TOPMed |
|
|
rs1196022308 CA373933986 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
rs1348192210 CA373934038 |
314 | P>H | No |
ClinGen TOPMed |
|
|
rs973931955 CA195506987 |
315 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1414798985 CA373934059 |
318 | K>E | No |
ClinGen TOPMed |
|
|
CA5107309 rs772643338 |
319 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA195507044 rs910221060 |
322 | R>G | No |
ClinGen Ensembl |
|
|
rs1292395648 CA373934092 |
322 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760774532 CA5107311 |
326 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408491461 CA373934136 |
328 | Y>C | No |
ClinGen TOPMed |
|
|
rs200918536 CA5107312 |
334 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373934190 rs1339583336 |
336 | I>V | No |
ClinGen gnomAD |
|
|
CA5107313 rs776668929 |
338 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA373934213 rs1469828383 |
339 | V>A | No |
ClinGen TOPMed |
|
|
rs1409944750 CA373934216 |
340 | C>R | No |
ClinGen TOPMed |
|
|
CA373934229 rs1242915293 |
341 | E>D | No |
ClinGen gnomAD |
|
|
rs1337179415 CA373934223 |
341 | E>K | No |
ClinGen gnomAD |
|
|
rs765375299 CA5107315 |
342 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs928421958 CA195507076 |
342 | V>I | No |
ClinGen TOPMed |
|
|
rs751374102 CA5107316 |
343 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751374102 CA373934235 |
343 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208687656 CA373934281 |
349 | H>R | No |
ClinGen TOPMed |
|
|
CA5107319 rs532139527 |
352 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760758863 CA5107339 |
356 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373934569 rs1374236376 |
358 | F>V | No |
ClinGen gnomAD |
|
|
CA195512346 rs977506062 |
365 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1235625552 CA373934632 |
366 | L>F | No |
ClinGen gnomAD |
|
|
CA5107344 rs760888314 |
368 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA373934682 rs1564319473 |
370 | L>V | No |
ClinGen Ensembl |
|
|
rs1434612844 CA373934712 |
372 | Q>P | No |
ClinGen TOPMed |
|
|
CA373935858 rs1244504344 |
374 | T>A | No |
ClinGen gnomAD |
|
|
CA5107361 rs761778458 |
375 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs145858134 CA5107360 |
375 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169713270 CA373935882 |
378 | D>H | No |
ClinGen gnomAD |
|
|
rs1403321234 CA373935901 |
380 | K>R | No |
ClinGen TOPMed |
|
|
CA5107364 COSM487629 rs758052966 |
385 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373935937 rs1325553662 |
385 | T>I | No |
ClinGen gnomAD |
|
|
CA373935954 rs1362628040 |
388 | M>L | No |
ClinGen gnomAD |
|
|
CA5107366 rs751936215 |
391 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 393 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364512196 CA373935999 |
394 | D>N | No |
ClinGen gnomAD |
|
|
rs927859010 CA195514864 |
394 | D>V | No |
ClinGen TOPMed |
|
|
rs1217118223 CA373936014 |
396 | L>F | No |
ClinGen gnomAD |
|
|
CA5107369 rs748647154 |
397 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5107368 rs368206549 |
397 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA5107370 rs756626893 |
398 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5107371 rs777775451 |
398 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1243833302 CA373936040 |
401 | S>G | No |
ClinGen gnomAD |
|
|
rs1487270946 CA373936048 |
402 | P>S | No |
ClinGen gnomAD |
|
|
CA373936058 rs1192617459 |
403 | P>L | No |
ClinGen gnomAD |
|
|
CA195514898 rs906608648 |
407 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5107374 rs774661421 |
408 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1486569564 CA373936108 |
409 | C>W | No |
ClinGen gnomAD |
|
|
CA373936110 rs1189868314 |
410 | Y>H | No |
ClinGen gnomAD |
|
|
CA5107389 rs753094969 |
411 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA5107390 rs756649494 |
412 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1177807938 CA373936136 |
414 | N>H | No |
ClinGen gnomAD |
|
|
rs1200869917 CA373936142 |
414 | N>K | No |
ClinGen TOPMed |
|
|
CA5107391 COSM1463414 rs559244542 |
417 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA373936209 rs1350969113 |
420 | C>F | No |
ClinGen gnomAD |
|
|
rs369185828 CA373936234 |
422 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369185828 CA5107394 |
422 | D>N | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5107395 rs746141069 |
423 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs150339845 CA5107396 |
424 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA195516513 rs912376290 |
425 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA373936361 rs773153171 |
430 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773153171 CA5107400 |
430 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138043991 COSM1463415 CA5107398 |
430 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1418041090 CA373937769 |
432 | F>L | No |
ClinGen gnomAD |
|
|
rs769593258 CA373937810 |
433 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA373937854 rs1295024064 |
435 | L>V | No |
ClinGen TOPMed |
|
|
CA5107421 rs777400340 |
438 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA373938097 rs1377421765 |
444 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107423 rs770844217 |
447 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1375802073 CA373938197 |
448 | D>E | No |
ClinGen gnomAD |
|
|
rs773922665 CA195524355 |
449 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5107425 rs758983734 |
451 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA195524363 rs1037012998 |
453 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 455 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107426 rs771731209 |
458 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs866159273 CA195524371 |
458 | A>V | No |
ClinGen Ensembl |
|
|
rs200547619 CA195524386 |
462 | D>N | No |
ClinGen 1000Genomes |
|
|
rs760431639 CA5107447 |
466 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774561710 CA195524685 |
467 | V>F | No |
ClinGen Ensembl |
|
|
rs768187404 CA5107448 |
469 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 469 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987736995 CA195524698 |
470 | A>V | No |
ClinGen gnomAD |
|
|
CA5107450 rs376370532 |
474 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112636800 CA195524704 |
477 | K>T | No |
ClinGen Ensembl |
|
|
rs761826871 CA195524712 |
483 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs773815159 CA5107452 |
483 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228602961 CA373938819 |
485 | L>S | No |
ClinGen TOPMed |
|
|
CA373938865 rs1363874532 |
487 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 490 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373938960 rs1202483021 |
492 | V>L | No |
ClinGen gnomAD |
|
|
CA195524716 COSM3433324 rs1053906232 |
498 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5107454 COSM1110745 rs766530749 |
498 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5107456 rs755296908 |
499 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA373939123 rs1156849814 |
499 | I>V | No |
ClinGen gnomAD |
|
|
CA373939199 rs1456209990 |
502 | Q>R | No |
ClinGen TOPMed |
|
|
CA373939384 rs1170750392 |
511 | E>K | No |
ClinGen TOPMed |
|
|
CA373939452 rs1240077060 |
513 | Y>C | No |
ClinGen gnomAD |
|
|
rs753649635 CA5107458 |
515 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA373939476 rs1304380499 |
515 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 519 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 524 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458815651 CA373940370 |
527 | E>K | No |
ClinGen gnomAD |
|
|
rs1458815651 CA373940373 |
527 | E>Q | No |
ClinGen gnomAD |
|
|
rs557691690 CA373940427 |
531 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557691690 CA5107477 |
531 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5107481 rs779797378 |
539 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373940522 rs779797378 |
539 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761127695 CA5107483 |
541 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 544 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 549 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373940647 rs1399709820 |
549 | R>S | No |
ClinGen gnomAD |
|
|
rs1437801735 CA373940755 |
558 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA373940762 rs1295860760 |
559 | S>G | No |
ClinGen gnomAD |
|
|
CA5107484 rs780818669 |
560 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs148208830 CA195526056 COSM106864 |
563 | T>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 563 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 564 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770577267 | 567 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529676661 CA5107488 |
567 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766371180 CA5107501 |
570 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1241675206 CA373940998 |
573 | S>N | No |
ClinGen gnomAD |
|
|
rs1311636717 CA373941007 |
574 | R>G | No |
ClinGen TOPMed |
|
|
rs1240962246 CA373941029 |
576 | I>V | No |
ClinGen TOPMed |
|
|
rs1329837849 CA373941052 |
578 | M>R | No |
ClinGen TOPMed |
|
|
CA195526605 rs969888381 |
578 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373941176 rs1302603829 |
587 | A>G | No |
ClinGen TOPMed |
|
|
rs751357555 CA5107521 |
597 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373941337 rs1478049544 |
597 | D>V | No |
ClinGen gnomAD |
|
|
rs759615890 CA5107522 |
598 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5107524 rs113466696 |
599 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755639991 CA5107525 |
600 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421464565 CA373941386 |
601 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5107527 rs141080071 |
603 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756918123 CA5107528 |
603 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373941401 rs141080071 |
603 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 604 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779209602 CA5107529 |
605 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195526932 rs771344254 |
609 | L>F | No |
ClinGen Ensembl |
|
|
CA5107531 rs201797022 |
611 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195526938 rs886282097 |
613 | Q>R | No |
ClinGen Ensembl |
|
|
rs1587671959 CA373941554 |
615 | R>Q | No |
ClinGen Ensembl |
|
|
CA5107533 rs747121540 |
624 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5107534 rs370126583 |
624 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373941701 rs1171190839 |
627 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5107535 rs776750225 |
628 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs776821188 CA5107539 COSM1463420 |
630 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 633 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291494797 CA373942510 |
639 | E>G | No |
ClinGen gnomAD |
|
|
CA5107561 rs776016210 |
642 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs142358554 CA5107562 |
646 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 647 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM487630 CA195527162 rs995902177 |
648 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1165455353 CA373942574 |
648 | P>S | No |
ClinGen gnomAD |
|
|
CA195527167 rs113767428 |
650 | P>T | No |
ClinGen Ensembl |
|
|
rs1471752424 CA373942602 |
652 | S>F | No |
ClinGen gnomAD |
|
|
rs150870092 CA5107564 |
653 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA195527172 rs150870092 |
653 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA195527179 rs903528634 |
654 | E>Q | No |
ClinGen Ensembl |
|
|
CA5107565 rs758023664 |
654 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs766787456 CA373942614 |
655 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162265822 CA373942653 |
661 | K>E | No |
ClinGen gnomAD |
|
|
rs751917730 CA5107567 |
661 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA373942655 rs751917730 |
661 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs956389575 CA195527208 |
672 | N>S | No |
ClinGen gnomAD |
|
|
rs185346638 CA5107569 |
676 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5107570 rs752744872 |
676 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749574848 CA5107573 |
678 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5107575 rs779996526 |
678 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749574848 CA5107574 |
678 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202430388 CA373942800 |
680 | V>I | No |
ClinGen gnomAD |
|
|
rs201988672 CA195528596 |
685 | K>E | No |
ClinGen 1000Genomes |
|
| TCGA novel | 694 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5107588 rs767944019 |
694 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 700 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379544674 CA373942945 |
701 | H>D | No |
ClinGen gnomAD |
|
|
CA373942968 rs1260734622 |
704 | E>K | No |
ClinGen gnomAD |
|
|
rs1299485273 CA373942985 |
706 | K>R | No |
ClinGen TOPMed |
|
|
CA5107612 rs201363050 |
707 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373943002 rs201363050 |
707 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5107613 rs764687730 |
712 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 713 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212254253 CA373943063 |
716 | H>Y | No |
ClinGen gnomAD |
|
|
rs1271702483 CA373943073 |
717 | K>T | No |
ClinGen gnomAD |
|
|
CA373943100 rs1343407875 |
721 | V>I | No |
ClinGen TOPMed |
|
|
rs1039677307 CA195529195 |
723 | K>Q | No |
ClinGen Ensembl |
|
|
rs757383749 CA5107615 |
725 | V>A | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5VZE5
No regional properties for Q5VZE5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5VZE5 | |||
5 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. |
| NatC complex | A conserved complex that catalyzes the transfer of an acetyl group to the N-terminal residue of a protein acceptor molecule that has a Met-Ile, Met-Leu, Met-Trp, or Met-Phe N-terminus. In Saccharomyces the complex includes Mak3p, Mak10p, and Mak31p. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| N-terminal peptidyl-methionine acetylation | The acetylation of the N-terminal methionine of proteins to form the derivative N-acetyl-L-methionine. |
| N-terminal protein amino acid acetylation | The acetylation of the N-terminal amino acid of proteins. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| smooth muscle cell proliferation | The multiplication or reproduction of smooth muscle cells, resulting in the expansion of a cell population. |
2 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02197 | MAK10 | N-alpha-acetyltransferase 35, NatC auxiliary subunit | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9W1A2 | Naa35 | N-alpha-acetyltransferase 35, NatC auxiliary subunit homolog | Drosophila melanogaster (Fruit fly) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVMKASVDDD | DSGWELSMPE | KMEKSNTNWV | DITQDFEEAC | RELKLGELLH | DKLFGLFEAM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SAIEMMDPKM | DAGMIGNQVN | RKVLNFEQAI | KDGTIKIKDL | TLPELIGIMD | TCFCCLITWL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EGHSLAQTVF | TCLYIHNPDF | IEDPAMKAFA | LGILKICDIA | REKVNKAAVF | EEEDFQSMTY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFKMANSVTD | LRVTGMLKDV | EDDMQRRVKS | TRSRQGEERD | PEVELEHQQC | LAVFSRVKFT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RVLLTVLIAF | TKKETSAVAE | AQKLMVQAAD | LLSAIHNSLH | HGIQAQNDTT | KGDHPIMMGF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EPLVNQRLLP | PTFPRYAKII | KREEMVNYFA | RLIDRIKTVC | EVVNLTNLHC | ILDFFCEFSE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QSPCVLSRSL | LQTTFLVDNK | KVFGTHLMQD | MVKDALRSFV | SPPVLSPKCY | LYNNHQAKDC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IDSFVTHCVR | PFCSLIQIHG | HNRARQRDKL | GHILEEFATL | QDEAEKVDAA | LHTMLLKQEP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QRQHLACLGT | WVLYHNLRIM | IQYLLSGFEL | ELYSMHEYYY | IYWYLSEFLY | AWLMSTLSRA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DGSQMAEERI | MEEQQKGRSS | KKTKKKKKVR | PLSREITMSQ | AYQNMCAGMF | KTMVAFDMDG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KVRKPKFELD | SEQVRYEHRF | APFNSVMTPP | PVHYLQFKEM | SDLNKYSPPP | QSPELYVAAS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KHFQQAKMIL | ENIPNPDHEV | NRILKVAKPN | FVVMKLLAGG | HKKESKVPPE | FDFSAHKYFP |
| VVKLV |