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

11 structures for Q9H6T3

Entry ID Method Resolution Chain Position Source
4CGV X-ray 254 A A/B/C/D 120-255 PDB
4CGW X-ray 300 A A/B 265-381 PDB
6EZ4 NMR - A 535-665 PDB
6FD7 NMR - A 133-255 PDB
6FDP NMR - A 281-395 PDB
6FDT NMR - A 281-396 PDB
6FM8 X-ray 178 A A 576-625 PDB
6FO1 EM 357 A G 1-665 PDB
6GXZ X-ray 296 A A/C 281-445 PDB
6ZBK X-ray 149 A A 133-255 PDB
AF-Q9H6T3-F1 Predicted AlphaFoldDB

494 variants for Q9H6T3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs886300491
CA236475510
2 T>A No ClinGen
Ensembl
rs1451859790
CA384511024
3 S>A No ClinGen
TOPMed
CA6530688
rs182172391
7 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA384510990
rs1176345423
8 I>V No ClinGen
TOPMed
gnomAD
rs1051630838
CA236475479
9 E>D No ClinGen
TOPMed
gnomAD
COSM176797
CA6530687
rs761613202
9 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6530686
rs774310982
12 L>P No ClinGen
ExAC
gnomAD
rs781449266
CA6530684
16 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA6530683
rs776917570
17 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA384510927
rs1405565880
17 N>S No ClinGen
TOPMed
gnomAD
CA384510929
rs776917570
17 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1489007048
CA384510892
22 Q>* No ClinGen
TOPMed
CA384510888
rs747245634
22 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs190469889
CA6530680
24 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6530679
rs144653550
26 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374367674
CA6530676
26 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374367674
CA6530677
26 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6530678
rs144653550
26 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200443326
CA6530675
27 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200443326
CA6530674
27 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 32 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755707813
CA6530672
33 K>N No ClinGen
ExAC
gnomAD
rs1044795496
CA236475402
33 K>R No ClinGen
gnomAD
TCGA novel 39 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6530671
rs750119778
40 M>V No ClinGen
ExAC
gnomAD
rs1485320248
CA384510696
41 E>K No ClinGen
gnomAD
rs767111937
CA6530670
42 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs767111937
CA236475387
42 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA6530668
rs751364323
46 N>K No ClinGen
ExAC
gnomAD
COSM4150105
CA236475365
rs934812452
47 G>D ovary [Cosmic] No ClinGen
cosmic curated
Ensembl
rs989050970
CA236475366
47 G>S No ClinGen
Ensembl
CA6530667
rs544943912
48 V>G No ClinGen
1000Genomes
ExAC
gnomAD
CA384510609
rs1457168144
49 P>T No ClinGen
TOPMed
rs776792610
CA6530665
50 E>G No ClinGen
ExAC
gnomAD
rs370359722
CA6530666
50 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6530643
rs773222451
56 I>V No ClinGen
ExAC
gnomAD
rs761948776
CA6530641
58 N>S No ClinGen
ExAC
rs997144280
CA236474472
COSM3416881
60 N>S large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs769034382
CA6530639
63 K>E No ClinGen
ExAC
gnomAD
CA384510063
rs1242180754
66 K>T No ClinGen
TOPMed
gnomAD
CA6530637
rs775951773
67 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA236474453
rs1038540943
67 G>S No ClinGen
TOPMed
gnomAD
CA384510045
rs1295032389
68 K>E No ClinGen
TOPMed
CA236474435
rs908977487
70 K>N No ClinGen
gnomAD
rs745374505
CA6530635
70 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1448403638
CA384509990
71 E>D No ClinGen
gnomAD
rs200333932
CA6530634
71 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384509994
rs1316014670
71 E>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA384509969
rs1592488977
73 S>Y No ClinGen
Ensembl
rs1326677198 76 T>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 76 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 78 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1455423472
CA384509886
79 E>D No ClinGen
TOPMed
gnomAD
CA384509866
rs1413957222
81 T>A No ClinGen
gnomAD
TCGA novel 82 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384509833
rs1182668677
84 R>G No ClinGen
gnomAD
CA236474383
rs550674751
84 R>S No ClinGen
1000Genomes
rs756875418
CA6530631
85 I>T No ClinGen
ExAC
gnomAD
rs928939148
CA236474379
85 I>V No ClinGen
gnomAD
rs746662437
CA6530630
86 K>T No ClinGen
ExAC
gnomAD
rs1362399482
CA384509732
93 W>R No ClinGen
gnomAD
CA236474366
rs530474989
94 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs530474989
CA6530628
94 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs369727824
CA236474343
98 V>E No ClinGen
ESP
TOPMed
gnomAD
rs138031379
CA6530607
100 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777547327
CA6530606
100 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs369699014
CA236466621
103 D>N No ClinGen
gnomAD
TCGA novel 103 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747952814
CA384509092
104 E>K No ClinGen
ExAC
gnomAD
rs747952814
CA6530604
104 E>Q No ClinGen
ExAC
gnomAD
CA384509051
rs1317197532
107 K>T No ClinGen
gnomAD
rs150350108
CA6530602
108 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA236466604
rs994992515
109 D>G No ClinGen
TOPMed
gnomAD
rs1391274800
CA384509039
109 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6530601
rs753744196
110 S>I No ClinGen
ExAC
gnomAD
rs1468222855
CA384509025
111 T>A No ClinGen
TOPMed
rs1430653316
CA384509022
111 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 113 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757260445
CA6530599
114 S>C No ClinGen
ExAC
gnomAD
rs151225713
CA384508999
115 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151225713
CA6530598
115 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200075662
CA6530597
117 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 118 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM72478
CA384508958
rs1279256902
121 S>A ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs374360356
COSM1361806
CA6530596
121 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA236466563
rs761096038
122 E>* No ClinGen
Ensembl
CA6530594
rs143202605
122 E>G No ClinGen
ESP
ExAC
gnomAD
CA6530593
rs200770635
123 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs750480505
CA236466543
124 D>H No ClinGen
TOPMed
gnomAD
CA384508918
rs1307794902
127 H>R No ClinGen
TOPMed
CA6530589
rs772923540
132 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA6530590
rs771519429
132 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs771787826
CA6530587
133 A>P No ClinGen
ExAC
gnomAD
rs771787826
CA384508857
133 A>S No ClinGen
ExAC
gnomAD
rs1359840156
CA384508853
133 A>V No ClinGen
TOPMed
rs1244934875
CA384508849
134 L>F No ClinGen
TOPMed
rs1236122914
CA384508837
135 V>A No ClinGen
gnomAD
rs1451515631
CA384508810
138 E>* No ClinGen
gnomAD
COSM348673
rs1451515631
CA384508812
138 E>Q lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA6530585
rs767728120
139 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1232257829
CA384508720
140 G>S No ClinGen
gnomAD
CA6530569
rs766791863
141 N>S No ClinGen
ExAC
gnomAD
CA689402252
rs1465414297
143 Y>* No ClinGen
TOPMed
rs1221246968
CA384508654
145 K>N No ClinGen
gnomAD
rs1592485725
CA384508632
147 G>E No ClinGen
Ensembl
rs1387060444
CA384508613
149 Y>C No ClinGen
TOPMed
CA6530567
rs772794029
150 D>G No ClinGen
ExAC
gnomAD
rs1222445274
CA384508603
150 D>Y No ClinGen
gnomAD
rs947556681
CA236465678
152 A>T No ClinGen
Ensembl
CA6530564
rs761519915
154 D>G No ClinGen
ExAC
gnomAD
rs1337825961
CA384508559
154 D>H No ClinGen
TOPMed
rs773848035
CA6530563
155 C>R No ClinGen
ExAC
gnomAD
CA6530561
rs142330780
157 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs539839637
CA384508489
CA6530559
160 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA236465656
rs775355665
160 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA6530560
rs775355665
160 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6530557
rs777790875
161 D>E No ClinGen
ExAC
gnomAD
rs1254572882
CA384508482
161 D>G No ClinGen
TOPMed
CA6530558
rs745826626
161 D>H No ClinGen
ExAC
gnomAD
rs868582798
CA236465647
162 A>V No ClinGen
Ensembl
CA6530555
rs748274753
163 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1487379083
CA384508440
165 Y>C No ClinGen
TOPMed
TCGA novel 165 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6530554
rs778990593
166 N>D No ClinGen
ExAC
gnomAD
CA6530553
rs755294849
167 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA384508418
rs755294849
167 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1266853670
CA384508423
167 P>T No ClinGen
gnomAD
CA6530551
COSM939673
rs371796000
168 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6530550
rs756644826
169 L>F No ClinGen
ExAC
gnomAD
CA6530549
rs751001324
170 P>L No ClinGen
ExAC
CA6530548
rs768182145
171 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs761391075
CA384508387
171 T>K No ClinGen
ExAC
gnomAD
rs761391075
CA6530547
171 T>M No ClinGen
ExAC
gnomAD
rs763583598
CA6530545
172 N>K No ClinGen
ExAC
gnomAD
rs866675210
CA236465574
173 R>K No ClinGen
Ensembl
CA236465564
rs368272179
COSM1361805
174 A>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
CA6530543
rs775098141
174 A>V No ClinGen
ExAC
gnomAD
rs993326819
CA236465555
180 L>V No ClinGen
TOPMed
CA384507261
rs1412596307
183 F>C No ClinGen
TOPMed
TCGA novel 184 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6530530
rs768131123
191 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA6530528
rs769966506
193 A>S No ClinGen
ExAC
gnomAD
CA6530529
rs769966506
193 A>T No ClinGen
ExAC
gnomAD
CA6530526
rs746148571
194 V>L No ClinGen
ExAC
gnomAD
rs772091518
CA384506996
195 A>S No ClinGen
TOPMed
CA236461819
rs772091518
195 A>T No ClinGen
TOPMed
CA384506966
rs1171918577
197 N>S No ClinGen
gnomAD
CA6530525
rs775177297
198 R>T No ClinGen
ExAC
gnomAD
CA6530524
rs555701427
199 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1436768294
CA384506918
199 S>R No ClinGen
TOPMed
rs370357624
CA6530523
201 T>A No ClinGen
ESP
ExAC
gnomAD
CA6530522
rs776478652
202 K>N No ClinGen
ExAC
gnomAD
CA384506872
rs1592481918
202 K>R No ClinGen
Ensembl
rs1186463939
CA384506858
203 A>P No ClinGen
gnomAD
CA6530521
rs202047980
205 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1345340407
CA384506812
206 R>T No ClinGen
TOPMed
CA6530520
rs367995387
207 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6530518
COSM693850
rs768816369
207 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 210 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749369834
CA6530517
210 A>V No ClinGen
ExAC
gnomAD
CA384506746
rs1282260549
211 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs139987705
CA236461792
212 F>L No ClinGen
ESP
gnomAD
CA6530516
rs780403948
213 A>G No ClinGen
ExAC
gnomAD
rs1484555410
CA384506721
213 A>T No ClinGen
gnomAD
CA6530514
rs746165934
218 E>D No ClinGen
ExAC
gnomAD
CA384506653
rs1343066604
218 E>K No ClinGen
gnomAD
rs1565720595
CA384506620
219 E>D No ClinGen
Ensembl
CA384506636
rs1244136756
219 E>K No ClinGen
gnomAD
rs145789473
CA6530513
220 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145789473
CA6530512
220 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1268435987
CA384506590
221 K>N No ClinGen
TOPMed
CA6530511
rs752138258
223 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1169229941
CA384505817
224 Y>D No ClinGen
TOPMed
CA384505805
rs1432048718
224 Y>F No ClinGen
TOPMed
CA236460635
rs199890720
225 E>G No ClinGen
TOPMed
gnomAD
CA236460632
rs377575216
227 V>A No ClinGen
gnomAD
rs1384140874
CA384505684
233 N>S No ClinGen
TOPMed
CA6530485
rs778328621
234 N>K No ClinGen
ExAC
gnomAD
rs138580530
CA6530484
235 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1289625368
CA384505606
239 N>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1592480841
CA384505503
245 S>N No ClinGen
Ensembl
rs952988463
CA236460607
245 S>R No ClinGen
TOPMed
rs771116418
CA6530466
247 A>G No ClinGen
ExAC
gnomAD
rs1209335748
CA384505311
247 A>T No ClinGen
TOPMed
gnomAD
rs149831248
CA6530464
248 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384505261
rs972933355
250 S>F No ClinGen
TOPMed
CA6530463
rs772573715
250 S>P No ClinGen
ExAC
gnomAD
CA236459707
rs972933355
250 S>Y No ClinGen
TOPMed
CA6530462
rs370722633
251 K>R No ClinGen
ESP
ExAC
gnomAD
CA384505232
rs1436299134
252 E>V No ClinGen
gnomAD
rs1354433044
CA384505197
255 Y>H No ClinGen
TOPMed
gnomAD
rs1332769853
CA384505183
255 Y>S No ClinGen
gnomAD
rs1414464088
CA384505165
256 P>L No ClinGen
gnomAD
CA384505161
rs754455964
257 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA6530460
rs754455964
257 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA384505057
rs1465178509
262 V>A No ClinGen
TOPMed
gnomAD
CA6530458
rs779747752
262 V>L No ClinGen
ExAC
rs1249721189
CA384505047
263 I>F No ClinGen
gnomAD
rs755792667
CA6530456
263 I>T No ClinGen
ExAC
gnomAD
CA236459638
rs753267036
264 K>N No ClinGen
TOPMed
gnomAD
rs1286245368
CA384504983
266 T>K No ClinGen
gnomAD
rs750171115
CA6530455
267 E>K No ClinGen
ExAC
gnomAD
rs1339566430
CA384504954
268 G>R No ClinGen
gnomAD
COSM1240094
CA6530453
rs757218659
270 R>* oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA384504922
rs757218659
270 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6530452
rs764174535
270 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs764174535
CA6530451
270 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6530450
rs759673181
273 I>T No ClinGen
ExAC
gnomAD
rs901450550
CA236459616
274 E>D No ClinGen
Ensembl
rs766555295
CA6530448
277 Q>H No ClinGen
ExAC
gnomAD
CA384504321
rs1351055782
278 N>K No ClinGen
TOPMed
gnomAD
rs1336198208
CA384504325
278 N>S No ClinGen
TOPMed
gnomAD
rs1375944568
CA384504314
279 K>T No ClinGen
TOPMed
rs1322240236
CA384504278
282 A>D No ClinGen
TOPMed
gnomAD
CA6530446
rs377619102
283 I>V No ClinGen
ESP
ExAC
gnomAD
rs772355326
CA6530445
285 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6530444
rs774819368
288 R>G No ClinGen
ExAC
gnomAD
rs139952845
CA6530442
288 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6530443
rs774819368
288 R>W No ClinGen
ExAC
gnomAD
CA236459046
rs1033277242
291 G>* No ClinGen
TOPMed
gnomAD
rs769153971
CA6530414
297 K>N No ClinGen
ExAC
gnomAD
rs567025650
CA236459029
CA384504057
298 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA689431599
rs1278355304
300 R>* No ClinGen
TOPMed
CA6530412
rs763440593
300 R>T No ClinGen
ExAC
gnomAD
CA6530410
rs746734456
302 I>T No ClinGen
ExAC
gnomAD
rs150689330
CA6530411
302 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384503972
rs1365671466
306 T>S No ClinGen
gnomAD
CA384503965
rs1293156562
307 R>* No ClinGen
TOPMed
gnomAD
rs189398208
CA236458996
307 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6530409
rs189398208
307 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6530408
rs377484905
308 G>E No ClinGen
ESP
ExAC
gnomAD
CA6530407
rs144540934
310 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756126888
CA6530406
311 A>E No ClinGen
ExAC
gnomAD
CA6530405
rs756126888
311 A>V No ClinGen
ExAC
gnomAD
CA236458969
rs925882161
312 D>G No ClinGen
TOPMed
gnomAD
rs1474550469
CA384503906
314 A>T No ClinGen
TOPMed
CA6530404
rs750576949
314 A>V No ClinGen
ExAC
gnomAD
CA384503898
rs1159188794
315 N>D No ClinGen
gnomAD
rs1420360337
CA384503894
315 N>I No ClinGen
gnomAD
CA6530403
rs767725622
316 A>T No ClinGen
ExAC
gnomAD
CA236458959
rs978589637
316 A>V No ClinGen
gnomAD
CA6530401
rs751868721
318 L>F No ClinGen
ExAC
gnomAD
rs764470160
CA6530400
321 N>D No ClinGen
ExAC
gnomAD
CA384503820
rs1329010230
322 R>G No ClinGen
gnomAD
rs1196452011
CA384503797
323 A>G No ClinGen
TOPMed
rs1424483521
CA384503756
325 A>V No ClinGen
TOPMed
rs763412726
CA6530399
326 Y>C No ClinGen
ExAC
gnomAD
rs1310504721
CA384503685
330 Q>* No ClinGen
gnomAD
CA384503681
rs1300738514
330 Q>R No ClinGen
gnomAD
CA384503094
rs751745819
331 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs977777702
CA236455333
332 Y>C No ClinGen
TOPMed
TCGA novel 333 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA236455323
rs1030168716
334 E>G No ClinGen
Ensembl
rs1350257107
CA384503056
334 E>K No ClinGen
gnomAD
rs1408818036
CA384503027
336 E>* No ClinGen
TOPMed
CA384503024
rs1360471691
336 E>D No ClinGen
TOPMed
CA6530381
rs758674512
336 E>V No ClinGen
ExAC
TOPMed
CA6530380
rs753170805
340 T>A No ClinGen
ExAC
gnomAD
CA6530379
rs540039944
340 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6530378
rs760102251
341 Q>E No ClinGen
ExAC
gnomAD
rs760102251
CA384502964
341 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 342 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766019965
CA6530376
343 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA384502830
rs1400006886
346 D>G No ClinGen
gnomAD
rs1451073376
CA384502824
347 G>C No ClinGen
TOPMed
rs760302949
CA6530375
348 S>P No ClinGen
ExAC
gnomAD
rs772978474
CA6530374
349 Y>H No ClinGen
ExAC
gnomAD
rs1300387176
CA384502761
356 R>S No ClinGen
TOPMed
rs1194364675
CA384502750
358 T>S No ClinGen
gnomAD
CA384502747
rs1448554021
359 A>S No ClinGen
gnomAD
CA384502748
rs1448554021
359 A>T No ClinGen
gnomAD
CA384502742
rs1362790734
360 R>G No ClinGen
TOPMed
rs185854362
CA6530373
361 T>R No ClinGen
1000Genomes
ExAC
gnomAD
CA6530371
rs774203420
363 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA6530369
rs749250833
364 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA6530370
rs749250833
364 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA384502713
rs749250833
364 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs975991707
CA236455255
367 N>S No ClinGen
TOPMed
CA6530367
rs555920494
371 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
CA384502565
rs1421669762
373 F>L No ClinGen
TOPMed
CA6530350
rs775389930
376 V>D No ClinGen
ExAC
gnomAD
TCGA novel 377 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs994610481
CA236453885
378 L>R No ClinGen
Ensembl
rs888662976
CA236453848
383 N>S No ClinGen
TOPMed
rs1027249990
CA236453844
385 Q>R No ClinGen
TOPMed
rs777920088
CA6530347
386 A>G No ClinGen
ExAC
gnomAD
TCGA novel 387 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA236453839
rs142406061
389 E>G No ClinGen
ESP
TOPMed
CA384502382
rs1592474860
391 S>C No ClinGen
Ensembl
rs1164228482
CA384502375
392 K>E No ClinGen
gnomAD
rs748433627
CA6530346
392 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs748433627
CA6530345
392 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA6530344
rs779043728
394 K>R No ClinGen
ExAC
gnomAD
rs755348161
CA6530343
395 K>N No ClinGen
ExAC
gnomAD
rs1388535551
CA384502255
399 E>D No ClinGen
gnomAD
CA6530325
rs748226237
399 E>Q No ClinGen
ExAC
gnomAD
rs1478389828
CA384502234
401 G>E No ClinGen
TOPMed
TCGA novel 401 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA236453669
rs148012785
405 D>E No ClinGen
ESP
TOPMed
gnomAD
rs1469650739
CA384502191
405 D>Y No ClinGen
gnomAD
CA6530324
rs779184026
410 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA236453661
rs764483511
411 T>A No ClinGen
Ensembl
CA384502098
rs1447542607
413 R>S No ClinGen
gnomAD
rs1052879674
CA236453660
414 Q>P No ClinGen
TOPMed
rs769068751
CA6530323
416 V>M No ClinGen
ExAC
gnomAD
CA384502067
rs1198240799
417 V>L No ClinGen
gnomAD
CA384502046
rs1565716876
419 P>S No ClinGen
Ensembl
CA384502039
rs375056834
420 I>L No ClinGen
ESP
gnomAD
rs375056834
CA236453651
420 I>V No ClinGen
ESP
gnomAD
rs1055715545
CA236453649
423 P>L No ClinGen
TOPMed
gnomAD
CA6530321
rs749599471
COSM267353
424 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749599471
CA236453647
424 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1347111306
CA384501989
425 H>Y No ClinGen
TOPMed
CA384501974
rs934495973
426 P>S No ClinGen
TOPMed
gnomAD
rs934495973
CA236453612
426 P>T No ClinGen
TOPMed
gnomAD
CA6530319
rs756643050
427 G>* No ClinGen
ExAC
gnomAD
CA6530318
rs144528022
427 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA384501967
rs756643050
427 G>R No ClinGen
ExAC
gnomAD
rs1376214944
CA384501956
428 S>L No ClinGen
TOPMed
gnomAD
rs1309988486
CA384501953
429 T>A No ClinGen
TOPMed
rs1161366989
CA384501703
432 L>R No ClinGen
gnomAD
CA384501707
rs1304190739
COSM131130
432 L>V liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs551301038
CA6530304
434 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1257555646
CA384501691
434 K>R No ClinGen
gnomAD
rs1026345061
CA236446465
435 V>L No ClinGen
TOPMed
CA6530303
rs368438367
436 I>F No ClinGen
ESP
ExAC
gnomAD
rs1250624007
CA384501674
437 I>L No ClinGen
gnomAD
CA6530302
rs376683177
440 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA236446441
rs149293092
441 G>D No ClinGen
ESP
TOPMed
gnomAD
rs372384112
CA6530301
441 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1228225145
COSM1705505
CA384501630
443 L>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs770256863
CA6530300
445 Q>* No ClinGen
ExAC
gnomAD
CA384501611
TCGA novel
rs1481234160
446 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
rs531087920
CA6530299
447 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531087920
CA6530298
447 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6530297
rs757705979
452 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA6530296
rs746467436
452 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA384501570
rs758005169
453 T>A No ClinGen
ExAC
gnomAD
CA6530294
rs758005169
453 T>P No ClinGen
ExAC
gnomAD
CA384501547
rs1460813801
457 A>T No ClinGen
gnomAD
rs138605014
CA6530292
458 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1565713635
CA384501484
466 A>S No ClinGen
Ensembl
CA384501481
rs1406686922
466 A>V No ClinGen
gnomAD
CA6530290
rs764521578
467 N>K No ClinGen
ExAC
gnomAD
CA384501473
rs1459694996
468 V>I No ClinGen
TOPMed
rs760545058
CA6530288
469 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA6530289
rs766275122
469 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA384501462
rs1221309385
470 A>T No ClinGen
gnomAD
rs774443950
CA6530287
471 A>V No ClinGen
ExAC
gnomAD
rs764305087
CA6530286
472 T>I No ClinGen
ExAC
gnomAD
CA6530285
rs763469006
475 T>I No ClinGen
ExAC
gnomAD
CA384501421
rs1170594958
477 K>E No ClinGen
TOPMed
gnomAD
CA6530284
rs775837173
478 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1307845532
CA384501410
478 K>T No ClinGen
gnomAD
rs770203975
CA6530283
481 S>N No ClinGen
ExAC
gnomAD
rs1291517913
CA384501372
483 D>V No ClinGen
gnomAD
CA384501369
rs1439901838
484 D>N No ClinGen
gnomAD
CA6530282
rs746174790
485 L>F No ClinGen
ExAC
gnomAD
CA384501360
rs746174790
485 L>V No ClinGen
ExAC
gnomAD
CA236446282
rs975080454
487 P>H No ClinGen
Ensembl
CA6530280
rs771417626
488 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs776870361
CA6530281
488 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA6530279
rs747500555
489 S>C No ClinGen
ExAC
gnomAD
rs377599159
CA236446275
489 S>N No ClinGen
TOPMed
gnomAD
rs1231896476
CA384501330
490 D>G No ClinGen
TOPMed
CA384501313
rs1159239794
493 R>G No ClinGen
TOPMed
gnomAD
rs778292657
CA6530278
496 V>A No ClinGen
ExAC
gnomAD
CA384501291
rs1473690661
496 V>L No ClinGen
gnomAD
CA236446271
rs1042095531
497 L>F No ClinGen
TOPMed
CA6530277
rs146145310
497 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1231616213
CA384501268
499 I>M No ClinGen
TOPMed
TCGA novel 501 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384501244
rs1255335575
503 S>G No ClinGen
gnomAD
rs113096543
CA6530274
504 D>G No ClinGen
Ensembl
CA6530272
rs373147823
505 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6530271
rs373147823
505 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA384501215
rs1310594344
507 S>F No ClinGen
gnomAD
CA6530269
rs766133338
509 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1167029790
CA384501187
510 P>R No ClinGen
gnomAD
CA384501180
rs1237887819
511 Q>H No ClinGen
TOPMed
rs75275772
CA236445610
511 Q>K No ClinGen
Ensembl
CA384501167
rs1374053570
513 S>I No ClinGen
gnomAD
rs1374053570
CA384501168
513 S>T No ClinGen
gnomAD
rs1258526872
CA384501163
514 L>V No ClinGen
TOPMed
CA6530248
rs781275030
518 V>I No ClinGen
ExAC
gnomAD
TCGA novel 520 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1188779531
CA384501108
521 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs199534990
CA6530245
523 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA384501093
rs765275115
523 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1338476521
CA384501091
524 E>K No ClinGen
gnomAD
CA384501064
rs1251710998
527 P>S No ClinGen
gnomAD
CA384501055
rs1565713131
528 I>M No ClinGen
Ensembl
CA6530243
rs772086384
528 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA384501051
rs1349506887
529 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6530242
rs142310260
530 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA236445547
rs773883246
530 I>T No ClinGen
TOPMed
gnomAD
rs1292071295
CA384501039
531 E>* No ClinGen
gnomAD
CA6530241
rs766637144
537 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs760962372
CA6530240
539 T>I No ClinGen
ExAC
gnomAD
CA6530239
rs773632539
540 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs563331115
CA6530238
542 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138253744
CA6530237
543 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1456799023
CA384500957
544 P>A No ClinGen
TOPMed
gnomAD
rs1456799023
CA384500956
544 P>S No ClinGen
TOPMed
gnomAD
CA384500939
rs1476218030
547 A>T No ClinGen
gnomAD
CA236445475
rs796820212
547 A>V No ClinGen
Ensembl
rs779510671
CA6530233
549 S>L No ClinGen
ExAC
gnomAD
rs779510671
CA6530234
549 S>W No ClinGen
ExAC
gnomAD
CA6530231
rs745648332
550 F>L No ClinGen
ExAC
gnomAD
rs1250910308
CA384500909
551 Q>H No ClinGen
TOPMed
gnomAD
CA236445430
rs916413198
551 Q>R No ClinGen
Ensembl
rs781185048
CA6530230
552 L>F No ClinGen
ExAC
gnomAD
rs958331895
CA236445394
553 E>D No ClinGen
Ensembl
CA6530227
COSM3812084
rs777789963
553 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6530226
rs754954744
555 D>H No ClinGen
ExAC
gnomAD
rs1032441799
CA236445368
557 R>T No ClinGen
Ensembl
rs1481012056
CA384500866
558 Q>R No ClinGen
TOPMed
CA6530224
rs766505474
560 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs112192272
CA6530223
561 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384500845
rs112192272
561 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 562 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_057354
rs11168196
CA6530222
564 D>Y No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA236445347
rs183182384
565 M>T No ClinGen
1000Genomes
gnomAD
CA384500813
rs1592467833
566 L>V No ClinGen
Ensembl
CA6530221
rs767906024
567 Y>C No ClinGen
ExAC
gnomAD
rs762193325
CA6530220
568 Q>E No ClinGen
ExAC
gnomAD
rs764500345
CA384500757
572 Q>* No ClinGen
ExAC
gnomAD
CA6530196
rs764500345
572 Q>K No ClinGen
ExAC
gnomAD
rs761807080
CA236444575
575 P>L No ClinGen
Ensembl
CA6530195
rs763567998
575 P>S No ClinGen
ExAC
gnomAD
CA6530193
rs764801994
576 S>Y No ClinGen
ExAC
gnomAD
rs1236960435
CA384500685
582 F>L No ClinGen
gnomAD
rs200439810
CA6530191
582 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371153105
CA6530190
584 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6530189
rs558162340
587 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs558162340
CA384500656
587 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA6530188
rs773116436
588 P>Q No ClinGen
ExAC
CA236444516
rs985199805
589 D>V No ClinGen
Ensembl
CA384500632
rs1328244447
590 V>G No ClinGen
gnomAD
rs771880756
CA6530187
592 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA236444491
rs866887339
592 N>S No ClinGen
Ensembl
rs778745026
CA6530185
595 V>I No ClinGen
ExAC
gnomAD
TCGA novel 596 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384500565
rs1415961454
600 D>G No ClinGen
TOPMed
gnomAD
rs1167224892
CA384500552
602 Y>H No ClinGen
TOPMed
gnomAD
CA384500543
rs1475716668
603 I>V No ClinGen
gnomAD
CA6530183
rs745956387
604 E>K No ClinGen
ExAC
gnomAD
CA384500518
rs1183215669
605 K>E No ClinGen
gnomAD
rs1479466540
CA384500515
605 K>R No ClinGen
gnomAD
rs1232624290
CA384500507
606 E>G No ClinGen
gnomAD
CA384500490
rs1592466713
608 P>L No ClinGen
Ensembl
rs1258712798
CA384500478
610 L>P No ClinGen
TOPMed
rs185968381
CA6530163
611 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs896302007
CA236443727
613 E>Q No ClinGen
TOPMed
gnomAD
rs1213690888
CA384500455
614 I>L No ClinGen
gnomAD
CA6530162
rs768580885
616 Q>R No ClinGen
ExAC
gnomAD
rs1056339207
CA236443726
617 R>T No ClinGen
TOPMed
gnomAD
rs781302023
CA6530160
619 S>F No ClinGen
ExAC
gnomAD
rs745940783
CA6530161
619 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA6530158
rs747216184
621 L>V No ClinGen
ExAC
gnomAD
rs758733529
CA6530156
622 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1394513348
CA384500399
623 R>G No ClinGen
TOPMed
gnomAD
rs1166330893
CA384500395
623 R>M No ClinGen
gnomAD
CA6530155
rs753008678
625 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6530153
rs201840394
626 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs779558901
CA6530154
626 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA384500359
rs1592466631
628 V>G No ClinGen
Ensembl
rs1332161528
CA384500352
629 M>I No ClinGen
TOPMed
CA236443677
rs757944993
629 M>T No ClinGen
Ensembl
CA6530152
rs753375734
631 M>T No ClinGen
ExAC
rs369232178
CA236443676
634 T>A No ClinGen
Ensembl
CA6530151
rs372539547
635 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384500294
rs1193511328
637 K>N No ClinGen
gnomAD
CA384618573
rs1185357236
639 A>V No ClinGen
gnomAD
rs772250615
CA6530135
640 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs201603359
CA6530134
640 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA384618567
rs201603359
640 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6530133
rs779468601
641 A>T No ClinGen
ExAC
gnomAD
rs922562021
CA237131316
646 I>V No ClinGen
Ensembl
CA6530132
rs755509985
647 D>G No ClinGen
ExAC
gnomAD
rs1277842487
CA384618499
650 G>E No ClinGen
gnomAD
CA6530131
rs754355096
653 D>E No ClinGen
ExAC
gnomAD
rs780726964
CA6530130
654 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA384618464
rs1303309136
655 S>C No ClinGen
gnomAD
rs767190780
CA6530127
657 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs756914994
CA6530126
658 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1565711081
CA384618445
658 E>G No ClinGen
Ensembl
rs200781166
CA6530125
660 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA384618433
rs1398782180
660 K>R No ClinGen
TOPMed
rs1373256764
CA384618418
662 R>T No ClinGen
gnomAD
rs762762381
CA384618405
664 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs762762381
CA6530123
664 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs762762381
CA384618406
664 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA384618398
rs1454728270
665 G>V No ClinGen
TOPMed

No associated diseases with Q9H6T3

9 regional properties for Q9H6T3

Type Name Position InterPro Accession
repeat Tetratricopeptide repeat 1 133 - 166 IPR001440-1
repeat Tetratricopeptide repeat 1 202 - 234 IPR001440-2
repeat Tetratricopeptide repeat 133 - 166 IPR019734-1
repeat Tetratricopeptide repeat 167 - 200 IPR019734-2
repeat Tetratricopeptide repeat 201 - 234 IPR019734-3
repeat Tetratricopeptide repeat 282 - 315 IPR019734-4
repeat Tetratricopeptide repeat 316 - 349 IPR019734-5
repeat Tetratricopeptide repeat 350 - 383 IPR019734-6
domain RNA-polymerase II-associated protein 3-like, C-terminal domain 546 - 636 IPR025986

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
chaperone complex A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
R2TP complex A highly conserved protein complex comprised of two ATP-dependent DNA helicases (Rvb1p and Rvb2p in yeast, Pontin52 and Reptin52 in humans), Pih1p in yeast or PIH1D1 in humans, and Tah1 in yeast or RPAP3 in humans. The complex associates with Hsp90 and is thought to have a role in assembly of large protein or protein/nucleic acid complexes. In this role it is involved in multiple processes such as box C/D snoRNP biogenesis, phosphatidylinositol-3 kinase-related protein kinase (PIKK) signaling, RNA polymerase II assembly, and others.
RPAP3/R2TP/prefoldin-like complex A protein complex first characterized in human and comprised of a R2TP module (R2TP complex), a prefoldin-like module (containing both prefoldin-like proteins and canonical prefoldins), WD40 repeat protein Monad/WDR92 and DNA-dependent RNA polymerase subunit RPB5. This complex might have chaperone activity.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9D706 Rpap3 RNA polymerase II-associated protein 3 Mus musculus (Mouse) PR
Q68FQ7 Rpap3 RNA polymerase II-associated protein 3 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTSANKAIEL QLQVKQNAEE LQDFMRDLEN WEKDIKQKDM ELRRQNGVPE ENLPPIRNGN
70 80 90 100 110 120
FRKKKKGKAK ESSKKTREEN TKNRIKSYDY EAWAKLDVDR ILDELDKDDS THESLSQESE
130 140 150 160 170 180
SEEDGIHVDS QKALVLKEKG NKYFKQGKYD EAIDCYTKGM DADPYNPVLP TNRASAYFRL
190 200 210 220 230 240
KKFAVAESDC NLAVALNRSY TKAYSRRGAA RFALQKLEEA KKDYERVLEL EPNNFEATNE
250 260 270 280 290 300
LRKISQALAS KENSYPKEAD IVIKSTEGER KQIEAQQNKQ QAISEKDRGN GFFKEGKYER
310 320 330 340 350 360
AIECYTRGIA ADGANALLPA NRAMAYLKIQ KYEEAEKDCT QAILLDGSYS KAFARRGTAR
370 380 390 400 410 420
TFLGKLNEAK QDFETVLLLE PGNKQAVTEL SKIKKELIEK GHWDDVFLDS TQRQNVVKPI
430 440 450 460 470 480
DNPPHPGSTK PLKKVIIEET GNLIQTIDVP DSTTAAAPEN NPINLANVIA ATGTTSKKNS
490 500 510 520 530 540
SQDDLFPTSD TPRAKVLKIE EVSDTSSLQP QASLKQDVCQ SYSEKMPIEI EQKPAQFATT
550 560 570 580 590 600
VLPPIPANSF QLESDFRQLK SSPDMLYQYL KQIEPSLYPK LFQKNLDPDV FNQIVKILHD
610 620 630 640 650 660
FYIEKEKPLL IFEILQRLSE LKRFDMAVMF MSETEKKIAR ALFNHIDKSG LKDSSVEELK
KRYGG