Q53HL2
Gene name |
CDCA8 (PESCRG3) |
Protein name |
Borealin |
Names |
Cell division cycle-associated protein 8, Dasra-B, hDasra-B, Pluripotent embryonic stem cell-related gene 3 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55143 |
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
9 structures for Q53HL2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2KDD | NMR | - | A/B | 207-280 | PDB |
| 2QFA | X-ray | 140 A | B | 15-76 | PDB |
| 2RAW | X-ray | 240 A | B | 20-78 | PDB |
| 2RAX | X-ray | 330 A | B/F/Y | 20-78 | PDB |
| 6YIE | X-ray | 349 A | B/E | 10-109 | PDB |
| 6YIF | X-ray | 181 A | B | 10-76 | PDB |
| 6YIH | X-ray | 255 A | B | 10-76 | PDB |
| 7U5V | X-ray | 259 A | C | 137-145 | PDB |
| AF-Q53HL2-F1 | Predicted | AlphaFoldDB |
200 variants for Q53HL2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs781286827 CA772977 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA339434721 rs781286827 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA339434739 rs923961297 |
3 | P>A | No |
ClinGen gnomAD |
|
|
CA20800356 rs923961297 |
3 | P>S | No |
ClinGen gnomAD |
|
|
rs936678581 CA20800357 |
4 | R>K | No |
ClinGen Ensembl |
|
|
CA20800360 rs748201253 |
5 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339442096 CA339434814 |
6 | G>V | No |
ClinGen gnomAD |
|
|
CA339434850 rs1570272424 |
8 | S>I | No |
ClinGen Ensembl |
|
|
CA339434856 rs1294841074 |
8 | S>R | No |
ClinGen gnomAD |
|
|
CA772980 rs778078602 |
9 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA772981 rs749680803 |
11 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA772982 rs771261679 |
12 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA20800396 rs17851453 VAR_027063 |
12 | K>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA772983 rs368533643 |
12 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339434933 rs1570272481 |
14 | N>T | No |
ClinGen Ensembl |
|
|
rs776659425 CA20800408 |
17 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA339434977 rs776659425 |
17 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA20800412 rs893062282 |
18 | R>W | No |
ClinGen Ensembl |
|
|
rs543224748 CA339435003 |
19 | R>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs543224748 CA20800416 |
19 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs771828918 CA772985 |
21 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339435051 rs1186113176 |
23 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA339435047 rs1423766049 |
23 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339435098 rs1158711892 |
27 | D>Y | No |
ClinGen gnomAD |
|
|
CA772989 rs776371441 CA20800423 |
28 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs532039712 CA772990 |
32 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA773017 rs757730266 |
35 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA773018 rs779438508 |
41 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA773019 rs750820280 |
42 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA773020 rs758775604 |
43 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173728637 CA339435475 |
44 | Q>K | No |
ClinGen gnomAD |
|
|
CA339435538 rs1488781095 |
48 | K>R | No |
ClinGen gnomAD |
|
|
CA339435555 rs1169929067 |
50 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs768323749 CA773023 |
51 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780615091 CA773024 |
53 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs1294131496 CA339435599 |
54 | Y>C | No |
ClinGen gnomAD |
|
|
rs1367179797 CA339435613 |
55 | N>S | No |
ClinGen gnomAD |
|
|
CA773027 rs577147430 |
56 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770780603 CA773029 |
62 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA339435706 rs1557513596 |
64 | A>V | No |
ClinGen Ensembl |
|
|
rs1487965570 CA339435737 |
67 | E>G | No |
ClinGen gnomAD |
|
|
rs760860469 CA773031 |
68 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs142003803 CA773030 |
68 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA773032 rs764332205 |
70 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369811875 CA339435845 |
75 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA773033 rs369811875 |
75 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315331301 CA339436198 |
76 | L>F | No |
ClinGen TOPMed |
|
|
rs768767817 CA773049 |
77 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA339436202 rs1557515574 |
77 | G>R | No |
ClinGen Ensembl |
|
|
rs1449171981 CA339436217 |
79 | N>S | No |
ClinGen gnomAD |
|
|
CA339436237 rs1302841587 |
82 | A>T | No |
ClinGen gnomAD |
|
|
CA339436264 rs1224241026 |
86 | A>T | No |
ClinGen TOPMed |
|
|
rs765476841 COSM909030 CA773052 |
86 | A>V | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764780292 CA20801927 |
88 | T>I | No |
ClinGen Ensembl |
|
|
CA339436293 rs1232799486 |
89 | A>P | No |
ClinGen Ensembl |
|
|
CA20803564 rs559744929 |
89 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA773070 rs770114051 |
90 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA773069 rs748439582 |
90 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA773071 rs773447308 |
91 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA773074 rs774862393 |
95 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs370815676 CA773073 |
95 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339436425 rs1423444159 |
101 | A>P | No |
ClinGen gnomAD |
|
|
CA339436447 rs1411981764 |
102 | E>A | No |
ClinGen gnomAD |
|
|
rs1172068276 CA339436453 |
103 | A>T | No |
ClinGen gnomAD |
|
|
rs543110631 CA20803601 |
104 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA773075 rs76059772 |
105 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1328602902 CA339436531 |
107 | P>S | No |
ClinGen gnomAD |
|
|
CA339436597 rs1436687521 |
112 | K>E | No |
ClinGen gnomAD |
|
|
rs533338748 CA773077 |
112 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA773096 rs35565540 |
114 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370260234 CA773098 |
115 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201801454 CA773097 |
115 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760966595 CA773100 |
117 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484824740 CA339437311 |
118 | Q>H | No |
ClinGen TOPMed |
|
|
CA773101 rs763752360 |
118 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA20804724 rs145236103 |
120 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 120 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA773102 rs753549817 |
124 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339437600 rs1247596069 |
128 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761448099 CA773105 |
131 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1356550984 CA339437725 |
133 | E>Q | No |
ClinGen TOPMed |
|
|
CA773106 rs201050786 |
134 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA773107 rs149123241 |
134 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA773108 rs149123241 |
134 | R>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA773110 rs565423678 |
135 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA20804791 rs866644775 |
139 | T>N | No |
ClinGen Ensembl |
|
|
CA339437908 rs751403716 |
140 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs751403716 CA773111 |
140 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA773112 rs754759907 |
140 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA773113 rs781119414 |
141 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1570280655 CA339438707 |
142 | V>I | No |
ClinGen Ensembl |
|
|
CA20805652 rs965003733 |
143 | K>N | No |
ClinGen Ensembl |
|
|
rs151151394 CA773127 |
143 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339438746 rs1163888824 |
144 | R>K | No |
ClinGen TOPMed |
|
|
CA20805656 rs974670997 |
145 | C>* | No |
ClinGen Ensembl |
|
|
rs762302397 CA773128 |
146 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766351022 CA773129 |
147 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs546751848 CA773130 |
148 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339438844 rs1275596451 |
149 | K>N | No |
ClinGen gnomAD |
|
|
CA339438832 rs1158918871 |
149 | K>T | No |
ClinGen gnomAD |
|
|
rs1379302126 CA339438854 |
150 | K>E | No |
ClinGen gnomAD |
|
|
CA20805672 rs933665476 |
150 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs754936582 CA773131 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339439007 rs1437310353 |
157 | G>E | No |
ClinGen TOPMed |
|
|
CA339438995 rs1402833814 |
157 | G>R | No |
ClinGen gnomAD |
|
|
rs767470650 CA773133 |
161 | G>A | No |
ClinGen ExAC |
|
|
CA339439075 rs1334576531 |
162 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA773151 rs767523357 |
163 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs200238492 CA773153 |
164 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA773152 rs755811056 |
164 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750680946 CA773154 |
165 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs374879708 CA773155 |
166 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs780154830 CA773156 |
166 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs961411785 CA20806763 |
169 | T>I | No |
ClinGen Ensembl |
|
|
CA20806767 rs1005107401 |
170 | V>L | No |
ClinGen TOPMed |
|
|
rs755507277 CA773158 |
171 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747037706 CA773157 |
171 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs755507277 CA339439195 |
171 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA773159 rs199832856 |
172 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA773160 rs748558450 |
173 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA773162 rs773619945 |
174 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA773163 rs748943554 |
175 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425707342 CA339439231 |
176 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM187074 rs761391083 CA773164 |
176 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA773166 rs140856315 |
177 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339439261 rs1352877317 |
179 | V>M | No |
ClinGen gnomAD |
|
|
CA339439285 rs1412468497 |
181 | M>T | No |
ClinGen TOPMed |
|
|
rs767578971 CA773167 |
181 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 183 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570281719 CA339439331 |
184 | P>L | No |
ClinGen Ensembl |
|
|
rs1294398050 CA339439336 |
185 | T>A | No |
ClinGen gnomAD |
|
|
rs775352060 CA773168 |
186 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760660133 CA773169 |
187 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1238649783 CA339439398 |
190 | P>S | No |
ClinGen TOPMed |
|
|
CA339439485 rs1218611587 |
194 | S>A | No |
ClinGen gnomAD |
|
|
rs1479531694 CA339439504 |
195 | R>T | No |
ClinGen TOPMed |
|
|
CA339439499 rs1197838409 |
195 | R>W | No |
ClinGen TOPMed |
|
|
CA773194 rs751835840 |
197 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766601028 CA773193 |
197 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA773195 rs759750134 |
199 | T>I | No |
ClinGen ExAC |
|
|
CA339440174 rs1215618838 |
199 | T>P | No |
ClinGen gnomAD |
|
|
CA339440191 rs1240287033 |
200 | P>R | No |
ClinGen gnomAD |
|
|
CA339440221 rs1557519027 |
203 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA20807987 rs1028578994 COSM909032 |
203 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA339440228 rs1484159679 |
204 | T>A | No |
ClinGen gnomAD |
|
|
CA339440247 rs1265301234 |
205 | P>L | No |
ClinGen TOPMed |
|
|
CA339440257 rs1557519042 |
206 | A>V | No |
ClinGen Ensembl |
|
|
rs767623323 CA773196 |
207 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008436119 CA20807993 |
209 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339440285 rs1008436119 |
209 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA773197 rs752774201 |
210 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA20808007 rs958970546 |
210 | R>W | No |
ClinGen gnomAD |
|
|
CA339440316 rs1326715133 |
211 | I>T | No |
ClinGen TOPMed |
|
|
CA773200 rs754168597 |
213 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1157305874 CA339440341 |
213 | N>S | No |
ClinGen gnomAD |
|
|
rs1361429999 CA339440361 |
214 | I>T | No |
ClinGen gnomAD |
|
|
CA773201 rs757758118 |
215 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA20808031 rs577497 CA20808027 |
217 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20808039 rs371795365 |
219 | S>N | No |
ClinGen ESP |
|
|
rs748136648 CA20808048 |
220 | P>L | No |
ClinGen gnomAD |
|
|
CA773203 rs745560335 |
220 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 222 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376693211 CA773204 |
223 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA773205 rs779449327 |
225 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA773206 rs746483715 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs776570068 CA773208 |
226 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs143404890 CA773209 |
227 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769642478 CA773210 |
229 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 230 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339440658 rs140308075 |
235 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140308075 CA773212 |
235 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1415381117 CA339440686 |
236 | G>E | No |
ClinGen gnomAD |
|
|
rs1040939534 CA20808103 |
236 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA773235 rs776833639 |
238 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs183128146 CA20808785 |
239 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765795028 CA773237 |
240 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM274462 rs187658080 CA773238 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA20808795 rs868020307 |
243 | A>V | No |
ClinGen Ensembl |
|
|
CA339441456 rs1194222539 |
249 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339441470 rs1205017701 |
250 | S>N | No |
ClinGen TOPMed |
|
|
rs1007163560 CA20808797 |
251 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA20808800 rs868425508 |
258 | A>S | No |
ClinGen Ensembl |
|
|
CA773240 rs377582484 |
261 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420323025 CA339441687 |
262 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs560264444 CA20808804 |
264 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1452342142 CA339441752 |
265 | L>I | No |
ClinGen gnomAD |
|
|
rs1452342142 CA339441753 |
265 | L>V | No |
ClinGen gnomAD |
|
|
rs201991293 CA773269 |
267 | N>K | No |
ClinGen ExAC gnomAD |
|
|
COSM909034 rs745614243 CA773270 |
268 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA773271 rs530473280 |
268 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748365559 CA773273 |
270 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA20809584 rs377421064 |
277 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA773274 rs770062752 |
277 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279936358 CA339442954 |
280 | K>I | No |
ClinGen gnomAD |
|
|
rs773393864 CA773275 |
281 | K>W | No |
ClinGen ExAC |
No associated diseases with Q53HL2
No regional properties for Q53HL2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q53HL2 | |||
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromocenter | A region in which centric, heterochromatic portions from more than one chromosomes form a compact structure. |
| chromosome passenger complex | A eukaryotically conserved protein complex that localizes to kinetochores in early mitosis, the spindle mid-zone in anaphase B and to the telophase midbody. It has been proposed that the passenger complex coordinates various events based on its location to different structures during the course of mitosis. Complex members include the BIR-domain-containing protein Survivin, Aurora kinase, INCENP and Borealin. |
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intercellular bridge | A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| spindle midzone | The area in the center of the spindle where the spindle microtubules from opposite poles overlap. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| chromosome organization | A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| mitotic metaphase plate congression | The cell cycle process in which chromosomes are aligned at the metaphase plate, a plane halfway between the poles of the mitotic spindle, during mitosis. |
| mitotic sister chromatid segregation | The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. |
| mitotic spindle midzone assembly | The cell cycle process in which the aggregation, arrangement and bonding together of a set of components forms the spindle midzone. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| positive regulation of attachment of mitotic spindle microtubules to kinetochore | Any process that activates or increases the frequency, rate or extent of attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation. |
| positive regulation of mitotic cell cycle spindle assembly checkpoint | Any process that increases the rate, frequency, or extent of the mitotic cell cycle spindle assembly checkpoint, a cell cycle checkpoint that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle. |
| positive regulation of mitotic cytokinesis | Any process that activates or increases the frequency, rate or extent of mitotic cytokinesis. |
| positive regulation of mitotic sister chromatid separation | Any process that activates or increases the frequency, rate or extent of mitotic sister chromatid separation. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VLD6 | borr | Borealin | Drosophila melanogaster (Fruit fly) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPRKGSSRV | AKTNSLRRRK | LASFLKDFDR | EVEIRIKQIE | SDRQNLLKEV | DNLYNIEILR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPKALREMNW | LDYFALGGNK | QALEEAATAD | LDITEINKLT | AEAIQTPLKS | AKTRKVIQVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EMIVEEEEEE | ENERKNLQTA | RVKRCPPSKK | RTQSIQGKGK | GKRSSRANTV | TPAVGRLEVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MVKPTPGLTP | RFDSRVFKTP | GLRTPAAGER | IYNISGNGSP | LADSKEIFLT | VPVGGGESLR |
| 250 | 260 | 270 | |||
| LLASDLQRHS | IAQLDPEALG | NIKKLSNRLA | QICSSIRTHK |