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.

3 regional properties for Q9UQB9

Type Name Position InterPro Accession
domain Protein kinase domain 43 - 293 IPR000719
active_site Serine/threonine-protein kinase, active site 162 - 174 IPR008271
binding_site Protein kinase, ATP binding site 49 - 72 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Nucleus
  • Chromosome
  • Chromosome, centromere
  • Cytoplasm, cytoskeleton, spindle
  • Distributes in the condensed chromosomes during prophase to metaphase
  • After entering anaphase, there is a dissociation from separated chromosomes and a redistribution to midzone microtubules, and finally remains in the midbody during cytokinesis
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