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 Q9H4H8

Entry ID Method Resolution Chain Position Source
5E0L X-ray 131 A C 384-394 PDB
5E0M X-ray 165 A C 436-446 PDB
AF-Q9H4H8-F1 Predicted AlphaFoldDB

501 variants for Q9H4H8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs919462045
CA408912841
2 A>D No ClinGen
TOPMed
gnomAD
rs760027242
CA9856495
2 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs919462045
CA314469808
2 A>V No ClinGen
TOPMed
gnomAD
rs573681061
CA9856496
3 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9856498
rs375053183
3 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9856497
rs375053183
3 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408912861
rs1334769429
4 L>P No ClinGen
TOPMed
TCGA novel 4 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9856502
rs766046202
5 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs766046202
CA9856504
5 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA9856503
rs766046202
5 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1279232145
CA408912867
6 E>Q No ClinGen
TOPMed
rs748094923
CA9856506
7 G>C No ClinGen
ExAC
gnomAD
rs1255924956
CA408912876
7 G>D No ClinGen
gnomAD
CA408912875
rs748094923
7 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408912882
rs1165860775
8 L>P No ClinGen
gnomAD
rs749400749
CA9856509
9 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs777529947
CA9856508
9 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA408912885
rs1439723681
9 D>H No ClinGen
TOPMed
rs771111401
CA9856510
10 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs771111401
CA408912890
10 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9856511
rs3752290
11 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746079486
CA314469938
12 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA9856512
rs746079486
12 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA408912903
rs1301838453
12 P>S No ClinGen
gnomAD
rs1402665677
CA408912919
15 C>R No ClinGen
TOPMed
gnomAD
rs1402665677
CA408912918
15 C>S No ClinGen
TOPMed
gnomAD
rs1315447479
CA408912921
15 C>Y No ClinGen
gnomAD
rs772376318
CA9856513
16 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1248747727
CA408912935
17 S>L No ClinGen
TOPMed
TCGA novel 18 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1309276538
CA408912955
20 G>V No ClinGen
gnomAD
rs199696070
CA408912977
24 P>A No ClinGen
1000Genomes
TOPMed
CA9856518
rs776957965
24 P>L No ClinGen
ExAC
gnomAD
rs199696070
CA314470036
24 P>S No ClinGen
1000Genomes
TOPMed
rs199696070
CA408912976
24 P>T No ClinGen
1000Genomes
TOPMed
rs1222350179
CA408912984
25 T>S No ClinGen
TOPMed
rs762502120
CA9856519
26 E>* No ClinGen
ExAC
gnomAD
CA408912993
rs1244090438
27 L>V No ClinGen
gnomAD
CA408913027
rs1347405241
31 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1439926844
CA408913028
32 R>G No ClinGen
TOPMed
rs1449422656
CA408913030
32 R>Q No ClinGen
TOPMed
gnomAD
CA408913036
rs765847709
33 R>H No ClinGen
ExAC
gnomAD
rs765847709
CA9856520
33 R>P No ClinGen
ExAC
gnomAD
rs1187172593
CA408913034
33 R>S No ClinGen
gnomAD
rs527698652
CA9856521
35 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA9856523
rs754613428
37 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA408913053
rs1230153675
37 E>K No ClinGen
TOPMed
gnomAD
CA408913062
rs1337183402
38 E>K No ClinGen
gnomAD
rs1364134308
CA408913073
40 V>M No ClinGen
gnomAD
CA408913082
rs1156314777
41 A>E No ClinGen
TOPMed
CA408913085
rs1415761291
42 G>S No ClinGen
TOPMed
CA314470109
rs936080000
43 G>S No ClinGen
gnomAD
CA408913102
rs1300648261
45 E>K No ClinGen
gnomAD
rs1054546893
CA314470116
46 A>D No ClinGen
TOPMed
gnomAD
rs752565827
CA9856525
46 A>S No ClinGen
ExAC
gnomAD
CA314470134
rs559144194
48 A>V No ClinGen
Ensembl
rs866860978
CA314470141
49 A>P No ClinGen
Ensembl
rs866860978
CA314470139
49 A>T No ClinGen
Ensembl
rs755815110
CA9856526
49 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA408913147
rs1190170752
52 R>L No ClinGen
gnomAD
rs1422397878
CA408913148
53 R>C No ClinGen
gnomAD
rs1481226968
CA408913152
53 R>P No ClinGen
gnomAD
rs749206418
CA9856530
54 E>D No ClinGen
ExAC
gnomAD
rs757475574
CA9856532
55 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs757475574
CA9856531
55 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9856533
rs745883040
55 R>P No ClinGen
ExAC
gnomAD
rs547544811
CA408913176
58 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs547544811
CA9856534
58 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1233258710
CA408913210
61 N>K No ClinGen
TOPMed
rs747426389
CA9856536
63 D>N No ClinGen
ExAC
gnomAD
TCGA novel 64 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9856538
rs777166362
66 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs567727695
CA9856537
66 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs778401144
CA314470247
67 A>P No ClinGen
TOPMed
gnomAD
CA408913370
rs1286558295
68 I>L No ClinGen
TOPMed
CA314470264
rs952249518
69 L>P No ClinGen
Ensembl
CA9856540
rs765932046
69 L>V No ClinGen
ExAC
gnomAD
CA408913447
rs1199509121
70 R>H No ClinGen
gnomAD
rs987126176
CA314470280
72 A>E No ClinGen
TOPMed
gnomAD
rs987126176
CA314470284
72 A>G No ClinGen
TOPMed
gnomAD
CA9856542
rs758906450
75 P>R No ClinGen
ExAC
gnomAD
CA9856544
rs752268662
76 G>E No ClinGen
ExAC
gnomAD
CA9856543
CA408913611
rs767219479
76 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA314470319
rs973345415
78 E>D No ClinGen
TOPMed
CA314470309
rs984244548
78 E>G No ClinGen
gnomAD
rs961782687
CA314470304
78 E>K No ClinGen
TOPMed
gnomAD
rs760558087
CA9856545
79 G>D No ClinGen
ExAC
gnomAD
rs1281664891
CA408913742
80 A>T No ClinGen
gnomAD
CA408913826
rs1351779325
82 A>V No ClinGen
gnomAD
rs1288435006
CA408913880
84 A>V No ClinGen
gnomAD
CA408913895
rs1222652745
85 A>E No ClinGen
gnomAD
CA408913894
rs1222652745
85 A>V No ClinGen
gnomAD
CA408913925
rs1481884477
86 A>T No ClinGen
TOPMed
gnomAD
CA408913956
rs1306806129
87 E>* No ClinGen
TOPMed
rs1306806129
CA408913952
87 E>K No ClinGen
TOPMed
CA408914004
rs1601328139
88 D>E No ClinGen
Ensembl
rs1016695822
CA314470387
88 D>N No ClinGen
gnomAD
rs958335069
CA408914050
CA314470412
90 F>L No ClinGen
TOPMed
gnomAD
rs1233253249
CA408914102
92 S>F No ClinGen
gnomAD
CA314470420
rs991134921
92 S>P No ClinGen
TOPMed
gnomAD
rs778924114
CA9856553
94 H>D No ClinGen
ExAC
gnomAD
CA9856555
rs79799203
94 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs79799203
CA9856554
94 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1426236176
CA408914177
95 D>N No ClinGen
gnomAD
CA9856556
rs780376110
97 S>F No ClinGen
ExAC
gnomAD
CA408914290
rs1300215724
98 S>* No ClinGen
TOPMed
rs1372038562
CA408914285
98 S>A No ClinGen
TOPMed
rs1462844923
CA408914302
99 G>C No ClinGen
TOPMed
CA314470467
rs977373364
99 G>D No ClinGen
TOPMed
gnomAD
rs781523150
CA9856559
101 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs769135403
CA9856558
101 Y>C No ClinGen
ExAC
gnomAD
CA408914370
rs1474318964
102 F>I No ClinGen
TOPMed
CA314470475
rs748454763
102 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA9856561
rs772056084
103 P>T No ClinGen
ExAC
gnomAD
CA408914418
rs865940305
105 Q>* No ClinGen
gnomAD
CA314470486
rs865940305
105 Q>K No ClinGen
gnomAD
rs924398974
CA314470487
106 S>L No ClinGen
Ensembl
rs935423801
CA314470492
107 D>Y No ClinGen
TOPMed
CA314470499
rs539294723
108 L>M No ClinGen
1000Genomes
TOPMed
gnomAD
CA9856562
rs773112798
110 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA408914494
rs1197184149
110 P>S No ClinGen
TOPMed
gnomAD
CA408914496
rs1197184149
110 P>T No ClinGen
TOPMed
gnomAD
rs867922455
CA314470514
112 L>M No ClinGen
gnomAD
CA9856563
rs759133538
116 G>A No ClinGen
ExAC
gnomAD
CA408914568
rs759133538
116 G>D No ClinGen
ExAC
gnomAD
CA408914565
rs1445189927
116 G>R No ClinGen
gnomAD
rs1460592108
CA408914591
117 W>* No ClinGen
gnomAD
rs1169714177
CA408914614
119 A>T No ClinGen
gnomAD
CA408914644
rs1351908107
122 Q>* No ClinGen
TOPMed
rs760227820
CA9856566
122 Q>H No ClinGen
ExAC
gnomAD
CA9856565
rs775279847
122 Q>P No ClinGen
ExAC
gnomAD
rs1408690577
CA408914652
123 G>D No ClinGen
gnomAD
CA314470570
rs559304277
124 A>T No ClinGen
1000Genomes
rs1453996734
CA408914659
124 A>V No ClinGen
gnomAD
CA408914664
rs1297422667
125 Y>C No ClinGen
gnomAD
CA408914677
rs1325193628
127 G>D No ClinGen
gnomAD
CA408914697
rs1568693901
130 R>L No ClinGen
Ensembl
rs1010808253
CA314470581
131 V>F No ClinGen
TOPMed
gnomAD
rs1376816971
CA408914716
133 T>M No ClinGen
TOPMed
gnomAD
rs61753646
CA408914720
134 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs61753646
CA9856568
134 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1296956604
CA408914729
135 F>L No ClinGen
TOPMed
rs943488421
CA314470596
135 F>L No ClinGen
Ensembl
rs1207875776
CA408914747
138 R>C No ClinGen
gnomAD
CA408914748
rs1246181407
138 R>H No ClinGen
gnomAD
rs1195475280
CA408914766
141 G>D No ClinGen
gnomAD
CA408914794
rs1477833630
145 P>L No ClinGen
TOPMed
gnomAD
rs1477833630
CA408914793
145 P>R No ClinGen
TOPMed
gnomAD
CA408914806
rs1278843289
147 G>D No ClinGen
gnomAD
CA314470606
rs889009859
148 C>F No ClinGen
TOPMed
CA314470602
rs1028879811
148 C>S No ClinGen
TOPMed
CA314470614
rs1040344890
149 K>Q No ClinGen
TOPMed
CA408914828
rs1408759659
150 D>E No ClinGen
gnomAD
rs1319722900
CA408914827
150 D>G No ClinGen
TOPMed
gnomAD
rs577533730
CA9856569
151 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1555811503
CA408914850
154 Q>R No ClinGen
Ensembl
CA408914860
rs1320289294
CA408914861
155 Q>H No ClinGen
TOPMed
gnomAD
CA408914869
rs765290550
157 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs901891033
CA314470630
157 R>P No ClinGen
gnomAD
CA9856570
rs765290550
157 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1568693955
CA408914875
158 S>* No ClinGen
Ensembl
rs993672151
CA408914887
160 R>L No ClinGen
TOPMed
CA314470635
rs993672151
160 R>P No ClinGen
TOPMed
CA408914895
rs1252333030
161 E>D No ClinGen
TOPMed
rs746458768
CA9856583
163 I>F No ClinGen
ExAC
gnomAD
rs1002414303
CA314482053
164 A>E No ClinGen
TOPMed
gnomAD
rs768451910
CA9856584
165 V>L No ClinGen
ExAC
gnomAD
CA314482069
rs1034273002
167 M>K No ClinGen
TOPMed
gnomAD
CA408917219
rs1034273002
167 M>T No ClinGen
TOPMed
gnomAD
rs201598979
CA9856585
168 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA314482116
rs948312518
169 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1423259480
CA408917261
173 I>T No ClinGen
gnomAD
CA408917266
rs1428715454
174 D>A No ClinGen
TOPMed
gnomAD
CA408917267
rs1428715454
174 D>G No ClinGen
TOPMed
gnomAD
CA9856587
rs371171699
174 D>N No ClinGen
ESP
ExAC
gnomAD
CA314482145
rs992431883
176 F>L No ClinGen
TOPMed
CA314482171
rs1045179335
178 D>E No ClinGen
gnomAD
TCGA novel 181 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs906729532
CA314482183
182 I>M No ClinGen
Ensembl
CA408917324
rs1380543789
182 I>T No ClinGen
gnomAD
CA9856590
rs766283187
183 C>F No ClinGen
ExAC
gnomAD
rs751595938
CA9856591
184 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA314482251
rs891576585
185 K>Q No ClinGen
Ensembl
TCGA novel 187 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408917362
rs1249893148
188 V>A No ClinGen
gnomAD
rs374313497
CA9856592
188 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374313497
CA314482269
188 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767751821
CA9856593
190 V>G No ClinGen
ExAC
gnomAD
rs1481728939
CA408917371
190 V>L No ClinGen
gnomAD
CA408917389
rs1242879856
192 I>M No ClinGen
gnomAD
CA408917387
rs1372332150
192 I>T No ClinGen
TOPMed
rs267605929
CA314482298
193 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA408917424
rs1443354021
198 L>F No ClinGen
gnomAD
rs752882835
CA9856594
201 Q>E No ClinGen
ExAC
gnomAD
rs752882835
CA9856595
201 Q>K No ClinGen
ExAC
gnomAD
CA408917455
rs3752293
203 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA408917481
rs1167683599
206 C>F No ClinGen
TOPMed
gnomAD
rs1167683599
CA408917479
206 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA408917489
rs1462149206
207 M>I No ClinGen
gnomAD
rs538971083
CA408917485
207 M>L No ClinGen
1000Genomes
ExAC
gnomAD
CA408917488
rs1321397848
207 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs538971083
CA9856597
207 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA408917492
rs1302077496
208 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA408917500
rs1403568531
209 L>M No ClinGen
gnomAD
rs965149440
CA314482315
211 V>G No ClinGen
TOPMed
gnomAD
rs925431512
CA314482313
211 V>I No ClinGen
TOPMed
gnomAD
CA408917532
rs1364357726
214 E>K No ClinGen
gnomAD
CA408917539
rs558982301
215 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs558982301
CA9856598
215 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1433751691
CA408917552
216 E>D No ClinGen
TOPMed
CA9856626
rs749062292
222 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777444883
CA9856625
222 R>W No ClinGen
ExAC
gnomAD
rs774220063
CA9856628
223 T>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 224 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1455596046
CA408917628
226 G>A No ClinGen
TOPMed
CA408917635
rs1601337532
227 N>S No ClinGen
Ensembl
rs771935442
CA9856630
228 I>M No ClinGen
ExAC
gnomAD
rs374359207
CA9856631
229 Y>* No ClinGen
ESP
ExAC
gnomAD
rs1431418040
CA408917659
231 A>T No ClinGen
TOPMed
CA9856632
rs760704870
232 R>K No ClinGen
ExAC
gnomAD
CA314486331
rs962583234
233 S>* No ClinGen
Ensembl
CA9856634
rs368793717
234 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9856633
rs368793717
234 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762126557
CA9856635
236 K>E No ClinGen
ExAC
gnomAD
rs527973542
CA9856636
238 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9856637
rs751029653
242 H>Y No ClinGen
ExAC
gnomAD
CA408917737
rs1447178773
243 E>G No ClinGen
TOPMed
CA408917734
rs1490745557
243 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA408917747
rs758987453
244 K>N No ClinGen
ExAC
gnomAD
CA9856639
rs780645103
246 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA9856643
rs372421589
248 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 251 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1029949648
CA314486407
251 I>S No ClinGen
TOPMed
CA9856644
rs375840960
252 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9856645
rs778778409
252 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9856647
rs772029367
253 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA408917811
rs1408012325
255 T>A No ClinGen
TOPMed
CA9856649
rs567972680
255 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768748837
CA9856650
256 G>D No ClinGen
ExAC
gnomAD
rs776787816
CA9856651
257 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1245818663
CA408917838
259 S>I No ClinGen
gnomAD
CA9856664
rs758166466
260 F>C No ClinGen
ExAC
gnomAD
rs376744439
CA408917878
263 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9856665
rs376744439
263 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768677835
CA9856667
264 D>G No ClinGen
ExAC
gnomAD
rs776786837
CA9856668
265 G>C No ClinGen
ExAC
gnomAD
CA9856669
rs748109756
265 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9856670
rs748109756
265 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA408917920
rs1201532895
269 S>R No ClinGen
gnomAD
CA408917924
rs1244954323
270 S>N No ClinGen
gnomAD
CA408917936
rs1461687642
271 N>K No ClinGen
TOPMed
gnomAD
CA408917976
rs1378553712
278 Q>* No ClinGen
gnomAD
rs199980392
CA9856671
279 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA408917983
rs199980392
279 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1439235343
CA408917991
280 V>A No ClinGen
gnomAD
CA408917987
rs1186668915
280 V>I No ClinGen
TOPMed
CA9856672
rs763463175
281 E>G No ClinGen
ExAC
gnomAD
rs1372526019
CA408917993
281 E>K No ClinGen
gnomAD
CA408918000
rs1169801654
282 H>D No ClinGen
gnomAD
CA9856673
rs766822413
283 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs1189546016
CA408918030
286 E>K No ClinGen
TOPMed
CA9856674
rs775053614
287 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA9856675
rs200522936
288 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408918043
rs200522936
288 R>G No ClinGen
ExAC
gnomAD
CA408918044
rs1397085238
288 R>Q No ClinGen
gnomAD
rs1317052090
CA408918060
291 Y>D No ClinGen
gnomAD
rs1324114971
CA408918079
293 Q>H No ClinGen
gnomAD
rs767841864
CA9856676
294 S>A No ClinGen
ExAC
gnomAD
CA408918084
rs1278519821
294 S>F No ClinGen
gnomAD
CA9856679
rs756673775
298 S>N No ClinGen
ExAC
gnomAD
CA408918119
rs1204418131
299 P>L No ClinGen
gnomAD
rs1261131990
CA408918124
300 K>R No ClinGen
gnomAD
rs750044937
CA9856681
304 H>Q No ClinGen
ExAC
gnomAD
CA9856680
rs78927920
304 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1311023945
CA408918166
306 Q>H No ClinGen
TOPMed
CA314489028
rs1012920488
309 N>S No ClinGen
TOPMed
gnomAD
rs1174770476
CA408918209
312 D>G No ClinGen
gnomAD
CA408918223
rs1333035728
314 L>V No ClinGen
gnomAD
rs758254488
CA9856682
315 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs779813959
CA9856683
316 N>H No ClinGen
ExAC
gnomAD
rs911477186
CA314489029
317 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9856684
rs746725808
317 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs140916362
CA9856686
319 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA408918283
rs1344508981
323 E>D No ClinGen
gnomAD
rs545972893
CA9856688
323 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs769975905
CA9856689
325 T>I No ClinGen
ExAC
gnomAD
CA9856691
rs73908214
327 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 328 N>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771217423
CA408918321
330 L>P No ClinGen
ExAC
gnomAD
CA9856692
rs771217423
330 L>Q No ClinGen
ExAC
gnomAD
CA314489136
rs373299326
331 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9856695
rs373299326
331 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs541787327
CA9856694
331 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775838541
CA9856696
332 M>L No ClinGen
ExAC
gnomAD
rs370045194
CA408918334
333 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370045194
CA9856698
333 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs61752513
CA9856697
333 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1181697534
CA408918339
334 L>R No ClinGen
TOPMed
CA9856700
rs758062346
335 A>G No ClinGen
ExAC
gnomAD
rs779480469
CA9856699
335 A>T No ClinGen
ExAC
gnomAD
rs751402625
CA9856702
336 R>G No ClinGen
ExAC
gnomAD
CA314489185
rs6101353
336 R>K No ClinGen
Ensembl
rs754683845
CA9856703
339 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs781243496
CA9856704
339 S>N No ClinGen
ExAC
rs752548661
CA9856705
340 T>I No ClinGen
ExAC
gnomAD
rs778010697
CA9856707
343 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA9856708
rs749312316
344 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1394087392
CA408918408
346 L>P No ClinGen
TOPMed
rs1220346638
CA408918416
347 D>E No ClinGen
gnomAD
rs778949689
CA9856711
347 D>V No ClinGen
ExAC
gnomAD
CA408918420
rs746291763
348 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs746291763
CA9856712
348 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA314489259
rs966553585
349 E>G No ClinGen
Ensembl
CA408918436
rs776130144
CA9856714
350 M>I No ClinGen
ExAC
TOPMed
CA408918431
rs1488917109
350 M>V No ClinGen
gnomAD
rs749230212
CA9856716
352 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1179734806
CA408918454
353 E>D No ClinGen
gnomAD
CA9856719
rs762409981
355 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs199850639
CA9856720
358 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9856721
rs562038092
358 R>H Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1350148368
CA408918488
359 K>E No ClinGen
gnomAD
rs759420092
CA9856722
359 K>R No ClinGen
ExAC
gnomAD
rs1178118286
CA408918498
360 P>R No ClinGen
TOPMed
CA9856723
rs767214100
361 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA9856724
rs752741335
362 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA408918511
rs752741335
362 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1215699407
CA744214480
363 C>* No ClinGen
TOPMed
CA408918515
rs1447434744
363 C>R No ClinGen
gnomAD
CA9856726
rs777810924
364 E>G No ClinGen
ExAC
gnomAD
CA9856725
rs756121830
364 E>K No ClinGen
ExAC
gnomAD
CA408918531
rs1243934430
365 S>F No ClinGen
gnomAD
TCGA novel 366 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408918535
rs1568701173
366 S>P No ClinGen
Ensembl
CA9856727
rs753984738
367 T>A No ClinGen
ExAC
gnomAD
rs1226896977
CA408918547
368 V>I No ClinGen
gnomAD
rs757386049
CA9856728
369 S>R No ClinGen
ExAC
gnomAD
CA408918578
rs1242833245
372 D>G No ClinGen
TOPMed
rs371208396
CA9856730
373 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9856729
rs368502958
373 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772543363
CA9856731
375 S>T No ClinGen
ExAC
gnomAD
CA9856732
rs780297850
376 S>N No ClinGen
ExAC
CA9856733
rs747309460
377 H>R No ClinGen
ExAC
gnomAD
rs1183124653
CA408918619
378 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA408918626
rs1239149664
379 D>Y No ClinGen
TOPMed
rs530780605
CA9856736
380 E>A No ClinGen
1000Genomes
ExAC
TOPMed
rs777074351
CA9856735
380 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408918635
rs530780605
380 E>V No ClinGen
1000Genomes
ExAC
TOPMed
CA9856737
rs770321143
385 K>N No ClinGen
ExAC
gnomAD
rs976869596
CA314489334
387 I>T No ClinGen
Ensembl
TCGA novel 388 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759101054
CA9856739
389 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1291451338
CA408918704
390 A>V No ClinGen
TOPMed
CA408918706
rs1601339828
391 T>A No ClinGen
Ensembl
rs1175419501
CA408918712
392 Q>E No ClinGen
gnomAD
CA408918737
rs1403869128
395 P>R No ClinGen
gnomAD
rs1455066828
CA408918735
395 P>S No ClinGen
TOPMed
rs374443421
CA9856740
396 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768578741
CA9856741
397 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs201866364
CA9856742
399 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA9856743
rs778632522
401 G>E No ClinGen
ExAC
gnomAD
rs753794218
CA9856744
402 L>P No ClinGen
ExAC
gnomAD
rs753794218
CA9856745
402 L>Q No ClinGen
ExAC
gnomAD
rs1446468504
CA408918782
403 S>G No ClinGen
TOPMed
gnomAD
rs200081428
CA9856746
404 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs192801255
CA9856747
405 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758554692
CA9856748
406 E>K No ClinGen
ExAC
gnomAD
CA9856750
rs747397332
410 Q>* No ClinGen
ExAC
TOPMed
CA9856751
rs755313994
413 I>N No ClinGen
ExAC
gnomAD
CA9856753
rs748654779
415 T>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 417 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9856754
rs770534536
417 C>Y No ClinGen
ExAC
gnomAD
rs566985764
CA9856756
418 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA9856755
rs546782440
418 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs566985764
CA408918880
418 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA9856757
rs771643589
420 T>I No ClinGen
ExAC
gnomAD
rs41276984
CA9856759
422 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs567406764
CA314489434
423 A>T No ClinGen
Ensembl
rs763976204
CA9856760
425 I>V No ClinGen
ExAC
gnomAD
rs1453203547
CA408918927
426 T>I No ClinGen
gnomAD
TCGA novel 427 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9856763
rs765157006
428 I>M No ClinGen
ExAC
gnomAD
rs761668428
CA9856762
428 I>V No ClinGen
ExAC
gnomAD
rs1283061930
CA408918969
433 T>S No ClinGen
gnomAD
CA9856764
rs750502040
434 T>M No ClinGen
ExAC
gnomAD
rs1305574461
CA408918992
436 W>* No ClinGen
TOPMed
rs1280025879
CA408918991
436 W>L No ClinGen
gnomAD
CA9856766
rs199973358
437 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9856767
rs376648441
439 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9856769
rs781525198
441 T>A No ClinGen
ExAC
gnomAD
CA408919036
rs1201056135
443 Q>H No ClinGen
gnomAD
TCGA novel 445 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9856770
rs748456811
446 M>I No ClinGen
ExAC
gnomAD
rs1383409590
CA408919055
446 M>T No ClinGen
TOPMed
CA408919081
rs1601339989
449 N>K No ClinGen
Ensembl
CA9856771
rs756607176
451 L>I No ClinGen
ExAC
gnomAD
TCGA novel 453 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1191531835
CA408919104
453 P>S No ClinGen
gnomAD
CA408919105
rs1191531835
453 P>T No ClinGen
gnomAD
CA9856772
rs778291789
454 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA314489487
rs776947128
454 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 455 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367934079
CA314489508
456 T>N No ClinGen
ESP
rs745414653
CA9856773
459 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs201971456
CA9856774
460 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA408919147
rs1258362960
460 E>G No ClinGen
gnomAD
CA408919160
rs1348347927
462 S>L No ClinGen
TOPMed
gnomAD
rs1373291352
CA408919186
466 K>N No ClinGen
gnomAD
rs776570461
CA9856778
467 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA408919188
rs1601340040
467 M>V No ClinGen
Ensembl
CA9856779
rs761631041
469 V>A No ClinGen
ExAC
gnomAD
CA408919201
rs1310817461
469 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 470 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773179759
CA9856781
470 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9856780
rs765111637
470 S>P No ClinGen
ExAC
gnomAD
rs762983509
CA9856782
471 R>* No ClinGen
ExAC
gnomAD
rs766445577
CA9856783
471 R>S No ClinGen
ExAC
gnomAD
rs1180361792
CA408919246
476 K>R No ClinGen
gnomAD
rs1478009725
CA408919266
479 S>F No ClinGen
gnomAD
CA314489605
rs999770233
481 V>M No ClinGen
Ensembl
rs1032425418
CA314489613
487 V>L No ClinGen
gnomAD
CA408919334
rs1407254207
490 S>F No ClinGen
gnomAD
CA408919339
rs1354254407
491 T>S No ClinGen
gnomAD
CA408919344
rs1334017436
492 G>C No ClinGen
TOPMed
gnomAD
CA408919343
rs1334017436
492 G>R No ClinGen
TOPMed
gnomAD
rs376148134
CA9856788
493 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408919355
rs1430318890
494 P>A No ClinGen
TOPMed
rs537005574
CA9856789
494 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1228476953
CA408919360
495 A>D No ClinGen
gnomAD
rs757902095
CA9856791
495 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779722508
CA9856792
498 R>G No ClinGen
ExAC
gnomAD
CA408919396
rs1435933618
501 D>Y No ClinGen
gnomAD
CA9856793
rs746452559
503 H>Q No ClinGen
ExAC
gnomAD
CA408919414
rs1461185569
503 H>R No ClinGen
gnomAD
CA9856794
rs768455978
504 N>D No ClinGen
ExAC
gnomAD
CA9856795
rs780943569
504 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA408919439
rs1183098828
507 Y>C No ClinGen
gnomAD
CA9856796
rs747944214
508 P>A No ClinGen
ExAC
gnomAD
rs1473906422
CA408919446
508 P>R No ClinGen
gnomAD
CA408919465
rs1211293130
511 L>V No ClinGen
TOPMed
CA314489659
rs759786387
513 T>I No ClinGen
gnomAD
CA9856799
rs773093502
514 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA408919481
rs1401698650
514 P>S No ClinGen
TOPMed
gnomAD
rs182339227
CA9856802
515 H>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs182339227
CA9856803
515 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA314489722
rs985755742
515 H>P No ClinGen
TOPMed
rs754952124 515 H>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs182339227
CA9856801
515 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9856805
rs201963971
520 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408919539
rs1322759443
523 S>P No ClinGen
gnomAD
CA408919546
rs1424361932
524 L>H No ClinGen
TOPMed
TCGA novel 529 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779521830
CA9856810
531 R>Q No ClinGen
ExAC
gnomAD
rs147472094
CA9856809
531 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 532 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326013859
CA408919604
532 Q>H No ClinGen
gnomAD
CA9856812
rs754514865
534 H>P No ClinGen
ExAC
gnomAD
CA9856815
rs769538321
536 A>G No ClinGen
ExAC
gnomAD
rs780749747
CA314489827
536 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs780749747
CA9856813
536 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs780749747
CA9856814
536 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1414594815
CA408919634
537 G>D No ClinGen
gnomAD
rs1414594815
CA408919636
537 G>V No ClinGen
gnomAD
rs748972472
CA9856817
540 S>Y No ClinGen
ExAC
gnomAD
CA9856819
rs774247066
541 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770889253
CA9856818
541 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408919666
rs1339512790
543 N>D No ClinGen
TOPMed
CA9856820
rs759648081
543 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA9856822
rs775629956
544 H>P No ClinGen
ExAC
gnomAD
CA9856823
rs760963857
545 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs200372016
CA314489851
545 M>R No ClinGen
Ensembl
rs764153219
CA9856824
547 A>D No ClinGen
ExAC
gnomAD
rs1293460868
CA408919698
548 M>V No ClinGen
TOPMed
CA408919715
rs1201137642
550 S>* No ClinGen
gnomAD
rs1218982714
CA408919751
556 T>A No ClinGen
gnomAD
CA314489868
rs372480989
556 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372480989
CA9856828
556 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408919763
rs1480349088
558 N>D No ClinGen
TOPMed
gnomAD
CA9856829
rs750930999
558 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA408919778
rs1379926193
560 L>F No ClinGen
gnomAD
rs866609670
CA314489885
565 G>A No ClinGen
TOPMed
gnomAD
rs866609670
CA314489874
565 G>D No ClinGen
TOPMed
gnomAD
CA408919812
rs866609670
565 G>V No ClinGen
TOPMed
gnomAD
CA408919840
rs1183697186
569 R>T No ClinGen
TOPMed
rs375799756
CA9856831
571 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408919863
rs1298505028
572 L>F No ClinGen
gnomAD
rs755800087
CA9856833
573 L>F No ClinGen
ExAC
gnomAD
rs1237493959
CA408919866
573 L>R No ClinGen
TOPMed
CA408919871
rs1384900051
574 A>S No ClinGen
TOPMed
gnomAD
CA314489901
rs139998796
575 V>I No ClinGen
1000Genomes
ESP
CA9856834
rs201035320
577 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201035320
CA408919888
577 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA314489914
rs891888204
578 V>E No ClinGen
TOPMed
CA9856836
rs757009985
578 V>I No ClinGen
ExAC
gnomAD
rs1351682295
CA408919906
580 L>P No ClinGen
gnomAD
CA9856837
rs778885796
580 L>V No ClinGen
ExAC
gnomAD
rs377190131
CA9856838
581 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408919918
rs1241618975
582 P>S No ClinGen
TOPMed
CA9856839
rs771937592
583 S>F No ClinGen
ExAC
TOPMed
rs775641854
CA9856840
584 Y>C No ClinGen
ExAC
gnomAD
CA314489926
rs1006839064
586 Q>L No ClinGen
TOPMed

1 associated diseases with Q9H4H8

Without disease ID

1 regional properties for Q9H4H8

Type Name Position InterPro Accession
domain FAM83, N-terminal 19 - 296 IPR012461

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, cytoskeleton, spindle
  • Cytoplasm, cytoskeleton, spindle pole
  • Primarily cytoplasmic during interphase, but at prophase, associates with spindle microtubules, with a clear concentration toward the spindle poles
  • It persists on spindle microtubules through metaphase and anaphase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 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.
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.
mitotic spindle A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
mitotic spindle pole Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
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.

3 GO annotations of molecular function

Name Definition
kinesin binding Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

11 GO annotations of biological process

Name Definition
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.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population.
epithelial to mesenchymal transition A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
metaphase plate congression The alignment of chromosomes at the metaphase plate (spindle equator), a plane halfway between the poles of the spindle.
positive regulation of cell cycle G1/S phase transition Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle.
protein localization to mitotic spindle A process in which a protein is transported to, or maintained in, a location within a mitotic spindle.
regulation of ERK1 and ERK2 cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
regulation of protein catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
regulation of TOR signaling Any process that modulates the frequency, rate or extent of TOR signaling.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5SWY7 Fam83g Protein FAM83G Mus musculus (Mouse) PR
Q9D7I8 Fam83d Protein FAM83D Mus musculus (Mouse) PR
10 20 30 40 50 60
MALLSEGLDE VPAACLSPCG PPNPTELFSE SRRLALEELV AGGPEAFAAF LRRERLARFL
70 80 90 100 110 120
NPDEVHAILR AAERPGEEGA AAAAAAEDSF GSSHDCSSGT YFPEQSDLEP PLLELGWPAF
130 140 150 160 170 180
YQGAYRGATR VETHFQPRGA GEGGPYGCKD ALRQQLRSAR EVIAVVMDVF TDIDIFRDLQ
190 200 210 220 230 240
EICRKQGVAV YILLDQALLS QFLDMCMDLK VHPEQEKLMT VRTITGNIYY ARSGTKIIGK
250 260 270 280 290 300
VHEKFTLIDG IRVATGSYSF TWTDGKLNSS NLVILSGQVV EHFDLEFRIL YAQSKPISPK
310 320 330 340 350 360
LLSHFQSSNK FDHLTNRKPQ SKELTLGNLL RMRLARLSST PRKADLDPEM PAEGKAERKP
370 380 390 400 410 420
HDCESSTVSE EDYFSSHRDE LQSRKAIDAA TQTEPGEEMP GLSVSEVGTQ TSITTACAGT
430 440 450 460 470 480
QTAVITRIAS SQTTIWSRST TTQTDMDENI LFPRGTQSTE GSPVSKMSVS RSSSLKSSSS
490 500 510 520 530 540
VSSQGSVASS TGSPASIRTT DFHNPGYPKY LGTPHLELYL SDSLRNLNKE RQFHFAGIRS
550 560 570 580
RLNHMLAMLS RRTLFTENHL GLHSGNFSRV NLLAVRDVAL YPSYQ