Q9UQB9
Gene name |
AURKC (AIE2, AIK3, AIRK3, ARK3, STK13) |
Protein name |
Aurora kinase C |
Names |
Aurora 3, Aurora/IPL1-related kinase 3, ARK-3, Aurora-related kinase 3, Aurora/IPL1/Eg2 protein 2, Serine/threonine-protein kinase 13, Serine/threonine-protein kinase aurora-C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6795 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
183-204 (Activation loop from InterPro)
Target domain |
43-293 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
3 structures for Q9UQB9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6GR8 | X-ray | 175 A | A | 36-305 | PDB |
| 6GR9 | X-ray | 225 A | A | 36-305 | PDB |
| AF-Q9UQB9-F1 | Predicted | AlphaFoldDB |
263 variants for Q9UQB9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002536856 RCV000825037 RCV000779270 rs749123022 |
35 | M>missing | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000725720 rs397515619 RCV000006686 |
49 | L>missing | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10652260 RCV000314950 rs886054645 |
62 | L>F | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2087499420 RCV001130263 |
70 | A>G | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9695903 rs61736320 RCV001130264 |
79 | I>V | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001130975 rs2087531534 |
219 | K>T | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006687 rs121908654 CA118124 |
229 | C>Y | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761881153 RCV001130977 CA9696034 |
230 | Y>C | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs55658999 RCV001449804 RCV002286429 CA9696044 |
248 | Y>* | Male infertility with spermatogenesis disorder Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001133931 rs763668016 CA9696060 |
260 | L>P | Infertility associated with multi-tailed spermatozoa and excessive DNA [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA407688588 rs1201425479 |
2 | S>G | No |
ClinGen TOPMed |
|
|
rs1366855265 CA407688592 |
2 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9695814 rs553335951 |
4 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472508163 CA407688602 |
4 | P>S | No |
ClinGen gnomAD |
|
|
CA9695816 rs141765733 |
5 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9695817 rs754714440 |
5 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA310421908 rs914607463 |
9 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA310421906 rs990631555 |
9 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA310421912 rs969884455 |
11 | G>S | No |
ClinGen Ensembl |
|
|
CA9695818 rs765267337 |
11 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278468838 CA407688652 |
13 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA407688660 rs1379841117 |
14 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs975373769 CA310421918 |
14 | Q>H | No |
ClinGen TOPMed |
|
|
CA407688673 rs1257760488 |
16 | A>E | No |
ClinGen gnomAD |
|
|
rs182340558 CA9695819 |
16 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462038055 CA407688679 |
17 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA407688676 rs1332248030 |
17 | G>S | No |
ClinGen TOPMed |
|
|
CA9695821 rs777213018 |
18 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310422168 rs200296015 |
20 | L>S | No |
ClinGen 1000Genomes |
|
|
rs780948811 CA9695847 |
22 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs750014683 CA9695848 |
23 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756534884 CA9695849 |
24 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1568483618 CA407688747 |
25 | Q>L | No |
ClinGen Ensembl |
|
|
rs749827114 CA9695853 |
26 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425006689 CA407688768 |
28 | Q>H | No |
ClinGen gnomAD |
|
|
rs1413970158 CA407688766 |
28 | Q>R | No |
ClinGen gnomAD |
|
|
rs1287521082 CA407688776 |
29 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9695855 rs200712786 |
31 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748307098 CA9695857 |
32 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748307098 CA407688794 |
32 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466497645 CA407688803 |
33 | P>Q | No |
ClinGen gnomAD |
|
|
rs1398755756 CA407688808 |
34 | A>G | No |
ClinGen gnomAD |
|
|
rs772011888 CA9695858 |
35 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772011888 CA407688811 |
35 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9695882 rs146186252 |
36 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310422235 rs866773092 |
36 | R>W | No |
ClinGen Ensembl |
|
|
CA9695884 rs768412496 |
37 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9695883 rs768412496 |
37 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9695885 rs761609075 |
38 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs767068148 CA9695886 |
39 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749836915 CA9695887 |
43 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9695889 rs766182833 |
47 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs137858773 COSM289991 CA9695890 |
47 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA407688904 rs1421580444 |
48 | P>R | No |
ClinGen gnomAD |
|
| VAR_040385 | 52 | G>E | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA407688935 rs1429809007 |
53 | K>R | No |
ClinGen gnomAD |
|
|
rs377720871 CA9695891 |
54 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA310422248 rs369744086 |
56 | N>I | No |
ClinGen ESP TOPMed |
|
|
CA407688962 rs1279516603 |
57 | V>L | No |
ClinGen gnomAD |
|
|
CA310422250 rs967893025 |
58 | Y>S | No |
ClinGen Ensembl |
|
|
COSM3835922 CA407688985 rs1218090649 |
61 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1222795282 CA407688993 |
62 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9695894 rs758760516 |
65 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs778334991 CA9695895 |
65 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757312038 CA9695897 |
68 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407689038 rs1156888282 |
69 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA407689053 rs1406222128 |
71 | L>P | No |
ClinGen gnomAD |
|
|
rs746052199 CA9695899 |
73 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9695900 rs768463930 |
74 | L>P | No |
ClinGen ExAC |
|
|
CA9695902 rs748122744 |
76 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA407689099 rs1302597906 |
78 | Q>L | No |
ClinGen gnomAD |
|
|
rs148631645 CA9695904 |
79 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA407689149 rs1406598635 |
83 | G>E | No |
ClinGen TOPMed |
|
|
rs1291567225 CA407689158 |
84 | L>V | No |
ClinGen gnomAD |
|
|
CA310422271 rs774920331 |
86 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 87 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179694544 CA407689248 |
90 | R>Q | No |
ClinGen TOPMed |
|
|
CA407689245 rs1382593516 |
90 | R>W | No |
ClinGen TOPMed |
|
|
CA310422272 COSM1712984 rs938334932 |
91 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs765945753 COSM1305183 CA9695907 |
93 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA407689326 rs1212779545 |
96 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 97 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407689354 rs1459445379 |
98 | L>V | No |
ClinGen gnomAD |
|
|
rs1177291522 CA407689363 |
99 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407689486 rs202030166 |
102 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9695934 rs202030166 |
102 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA9695935 rs370357811 |
102 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767588611 CA9695936 |
103 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1398810905 CA407689517 |
104 | L>R | No |
ClinGen gnomAD |
|
|
rs756195705 COSM266071 CA9695938 |
105 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9695939 rs45555141 |
105 | R>H | No |
ClinGen ExAC |
|
|
rs1202265691 CA407689550 |
107 | Y>* | No |
ClinGen gnomAD |
|
|
CA310422356 rs1039212821 |
107 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 107 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9695941 rs758149112 |
108 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA310422358 rs45623632 |
109 | Y>C | No |
ClinGen Ensembl |
|
|
CA407689581 rs1485365631 |
110 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407689578 rs1437633992 COSM3423268 |
110 | F>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs199855150 CA9695943 |
111 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777649755 CA9695942 |
111 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1318062881 CA407689598 |
112 | D>N | No |
ClinGen Ensembl |
|
|
CA9695944 rs771054259 |
113 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053349926 CA310422363 |
114 | R>C | No |
ClinGen TOPMed |
|
|
rs1051922045 CA310422365 |
114 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA407689627 rs1051922045 |
114 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs547639001 CA9695946 |
115 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9695945 rs781258727 |
115 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769321124 CA9695947 |
116 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1373163298 CA407689657 |
117 | Y>C | No |
ClinGen gnomAD |
|
|
rs762620183 CA9695949 |
120 | L>V | No |
ClinGen ExAC |
|
|
rs1431458756 CA407689695 |
121 | E>* | No |
ClinGen TOPMed |
|
|
rs768917128 CA9695950 |
122 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9695951 rs774633250 |
123 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA407689724 rs774633250 |
123 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9695952 rs762160840 |
124 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768071401 CA9695953 |
125 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs564437807 CA9695955 |
130 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748043145 CA310422377 |
132 | L>P | No |
ClinGen Ensembl |
|
|
CA407689849 rs1341328356 |
134 | K>Q | No |
ClinGen gnomAD |
|
|
rs549736371 CA9695958 |
136 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9695960 rs779269368 |
138 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779269368 CA9695959 |
138 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255301204 CA407689906 |
138 | L>V | No |
ClinGen TOPMed |
|
|
rs1288469202 CA407689925 |
139 | D>G | No |
ClinGen gnomAD |
|
|
CA9695961 COSM1318245 rs757093824 |
142 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM193672 CA9695962 rs781321656 |
142 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1301622606 CA407689975 |
143 | T>I | No |
ClinGen TOPMed |
|
|
rs1200987353 CA407689989 |
144 | A>V | No |
ClinGen gnomAD |
|
|
rs45503793 CA407689997 |
145 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs45503793 CA9695963 COSM3693112 |
145 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747748648 CA9695986 |
147 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9695985 rs778566668 |
147 | I>V | No |
ClinGen ExAC |
|
| VAR_040386 | 148 | E>Q | a lung squamous cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 150 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407690659 rs1262554782 |
152 | D>V | No |
ClinGen TOPMed |
|
|
CA407690683 rs1191840164 |
154 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407690687 rs1313709159 |
155 | T>S | No |
ClinGen gnomAD |
|
|
CA407690706 rs1234928803 |
156 | Y>C | No |
ClinGen gnomAD |
|
|
rs747326825 CA407690702 |
156 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA9695989 rs747326825 |
156 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA310422578 rs147955649 |
157 | C>F | No |
ClinGen ESP |
|
|
CA9695990 rs771521821 |
158 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433221592 CA407690755 |
159 | D>E | No |
ClinGen gnomAD |
|
|
CA407690745 rs1568484491 |
159 | D>N | No |
ClinGen Ensembl |
|
|
rs1177453339 CA407690759 |
160 | K>Q | No |
ClinGen gnomAD |
|
|
rs1220569605 CA407690853 |
166 | D>V | No |
ClinGen TOPMed |
|
|
CA407690867 rs776978723 |
167 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9695991 rs776978723 |
167 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407690934 rs1316809304 |
172 | L>P | No |
ClinGen TOPMed |
|
|
rs886295358 CA310422589 |
173 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 175 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407690974 rs1568484519 |
176 | F>S | No |
ClinGen Ensembl |
|
|
rs765370411 CA9695993 |
178 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599974638 CA407691009 |
179 | E>K | No |
ClinGen Ensembl |
|
|
rs1599974643 CA407691032 |
180 | V>M | No |
ClinGen Ensembl |
|
|
CA9695994 rs775879982 |
181 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369113656 CA9695995 |
183 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369113656 CA9695996 |
183 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407691214 rs1599974695 |
188 | S>A | No |
ClinGen Ensembl |
|
|
rs766389749 CA9695999 |
188 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs766389749 CA407691218 |
188 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA407691258 rs1462408257 |
190 | H>L | No |
ClinGen TOPMed |
|
|
rs753676680 CA9696000 |
191 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9696002 rs778336053 |
192 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778336053 CA407691304 |
192 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9696001 rs754504724 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1292898721 CA407691332 |
193 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310426735 rs200042694 |
197 | K>N | No |
ClinGen Ensembl |
|
|
CA9696018 rs766038899 |
199 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1460179537 CA407692517 |
199 | M>V | No |
ClinGen TOPMed |
|
|
CA310426738 rs937634821 |
200 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9696019 rs753784986 |
203 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752259384 CA9696022 |
207 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407692745 rs1192298496 |
209 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9696025 rs751129243 |
210 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1217468905 CA407692778 |
210 | M>T | No |
ClinGen gnomAD |
|
|
CA9696024 rs777518471 |
210 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195267369 CA407692812 |
211 | I>M | No |
ClinGen TOPMed |
|
|
CA9696026 rs757665503 |
211 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9696027 rs781355971 |
213 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA407692846 rs1568484991 |
213 | G>R | No |
ClinGen Ensembl |
|
|
CA310426746 rs377697885 |
215 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs560403104 CA9696029 |
216 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1380978382 CA407692910 |
217 | D>Y | No |
ClinGen gnomAD |
|
|
CA9696030 rs780694228 |
219 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310426753 rs199933542 |
221 | D>Y | No |
ClinGen 1000Genomes |
|
|
CA407693040 rs1429695197 |
225 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA407693058 rs1373044469 |
227 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9696036 rs776475472 |
235 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9696037 rs759308943 |
235 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1222681629 CA407693176 |
236 | Y>C | No |
ClinGen gnomAD |
|
|
CA407693170 rs1487799721 |
236 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9696038 rs765203245 |
237 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs149157434 CA310426760 |
241 | S>N | No |
ClinGen ESP |
|
|
CA407693253 rs762552612 |
242 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9696040 rs762552612 |
242 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| VAR_040387 | 244 | H>Q | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA407693285 rs1471193063 |
244 | H>R | No |
ClinGen gnomAD |
|
|
CA9696041 rs763466275 COSM1396969 |
244 | H>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA310426765 rs1032362379 |
247 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9696043 rs758885205 |
248 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9696045 rs780990641 |
250 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534798496 CA9696046 |
250 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407693466 rs1190287357 |
254 | V>I | No |
ClinGen gnomAD |
|
|
rs45527835 CA310426807 |
255 | D>Y | No |
ClinGen Ensembl |
|
|
CA9696059 rs147392532 |
257 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9696058 rs147392532 |
257 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 263 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9696063 rs767327431 |
263 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA310426813 rs867452462 |
263 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407693595 rs1326341552 |
264 | L>V | No |
ClinGen gnomAD |
|
|
rs750070354 CA9696064 |
265 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756579497 CA9696065 |
266 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9696067 rs765491946 |
267 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574255112 CA9696066 |
267 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157230144 CA407693636 |
268 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407693688 rs1259306834 |
272 | R>T | No |
ClinGen gnomAD |
|
|
rs1599977438 CA407693737 |
276 | Y>D | No |
ClinGen Ensembl |
|
|
CA407693750 rs936825828 |
277 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA310426820 rs936825828 |
277 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA407693774 rs1437359871 |
278 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755502739 CA9696069 |
280 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360082157 CA407693832 |
283 | P>A | No |
ClinGen TOPMed |
|
|
rs201199082 CA9696071 |
286 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200445619 CA9696072 |
286 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9696073 rs777999940 |
287 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA9696074 rs747182848 |
288 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9696076 rs769593496 CA9696075 |
290 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA407693915 rs1186906245 |
290 | H>Y | No |
ClinGen gnomAD |
|
|
rs1004381778 CA310426830 |
291 | P>L | No |
ClinGen Ensembl |
|
|
CA407693946 rs1166086375 |
292 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9696078 rs749109023 |
293 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768538793 CA9696079 |
295 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768538793 CA407693985 |
295 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183811631 CA407693993 |
296 | H>Y | No |
ClinGen TOPMed |
|
|
CA407694017 rs1373200287 |
298 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA407694016 rs1373200287 |
298 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs575228273 CA9696081 COSM1396977 |
298 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9696082 rs544419764 |
299 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA310426837 rs377167746 |
301 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs766124268 CA407694055 |
302 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766124268 CA9696085 |
302 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352742293 CA407694074 |
304 | C>R | No |
ClinGen gnomAD |
|
|
rs754213322 CA9696086 |
305 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9696087 rs560887013 |
305 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765699626 CA9696088 |
307 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs753203548 CA9696089 |
308 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA310426843 rs868453657 |
309 | S>F | No |
ClinGen Ensembl |
1 associated diseases with Q9UQB9
[MIM: 243060]: Spermatogenic failure 5 (SPGF5)
An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome. {ECO:0000269|PubMed:17435757, ECO:0000269|PubMed:21733974}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome. {ECO:0000269|PubMed:17435757, ECO:0000269|PubMed:21733974}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| condensed chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| spindle microtubule | Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole. |
| spindle midzone | The area in the center of the spindle where the spindle microtubules from opposite poles overlap. |
| spindle pole centrosome | A centrosome from which one pole of a mitotic or meiotic spindle is organized. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| histone serine kinase activity | Catalysis of the transfer of a phosphate group to a serine residue of a histone. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| attachment of spindle microtubules to kinetochore | The process in which spindle microtubules become physically associated with the proteins making up the kinetochore complex. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| histone modification | The covalent alteration of one or more amino acid residues within a histone protein. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| 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. |
| oocyte development | The process whose specific outcome is the progression of an oocyte over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. |
| positive regulation of cytokinesis | Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cytokinesis | Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38991 | IPL1 | Spindle assembly checkpoint kinase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q7YRC6 | AURKB | Aurora kinase B | Bos taurus (Bovine) | PR |
| Q2TA06 | AURKA | Aurora kinase A | Bos taurus (Bovine) | PR |
| Q9VKN7 | aurB | Aurora kinase B | Drosophila melanogaster (Fruit fly) | PR |
| Q96GD4 | AURKB | Aurora kinase B | Homo sapiens (Human) | PR |
| O14965 | AURKA | Aurora kinase A | Homo sapiens (Human) | PR |
| O70126 | Aurkb | Aurora kinase B | Mus musculus (Mouse) | PR |
| P97477 | Aurka | Aurora kinase A | Mus musculus (Mouse) | PR |
| O88445 | Aurkc | Aurora kinase C | Mus musculus (Mouse) | PR |
| Q9N0X0 | AURKB | Aurora kinase B | Sus scrofa (Pig) | PR |
| A5GFW1 | AURKA | Aurora kinase A | Sus scrofa (Pig) | PR |
| O55099 | Aurkb | Aurora kinase B | Rattus norvegicus (Rat) | PR |
| O01427 | air-2 | Aurora/IPL1-related protein kinase 2 | Caenorhabditis elegans | PR |
| A4IGM9 | aurkb | Aurora kinase B | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6NW76 | aurkb | Aurora kinase B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSPRAVVQL | GKAQPAGEEL | ATANQTAQQP | SSPAMRRLTV | DDFEIGRPLG | KGKFGNVYLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLKESHFIVA | LKVLFKSQIE | KEGLEHQLRR | EIEIQAHLQH | PNILRLYNYF | HDARRVYLIL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EYAPRGELYK | ELQKSEKLDE | QRTATIIEEL | ADALTYCHDK | KVIHRDIKPE | NLLLGFRGEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KIADFGWSVH | TPSLRRKTMC | GTLDYLPPEM | IEGRTYDEKV | DLWCIGVLCY | ELLVGYPPFE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SASHSETYRR | ILKVDVRFPL | SMPLGARDLI | SRLLRYQPLE | RLPLAQILKH | PWVQAHSRRV |
| LPPCAQMAS |