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

4 structures for Q9UMY1

Entry ID Method Resolution Chain Position Source
7MQ8 EM 360 A ND 1-257 PDB
7MQ9 EM 387 A ND 1-257 PDB
7MQA EM 270 A ND 1-257 PDB
AF-Q9UMY1-F1 Predicted AlphaFoldDB

241 variants for Q9UMY1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA3640694
rs201177610
CA362778902
3 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
NCI-TCGA
rs1044328201
CA134827865
4 L>P No ClinGen
Ensembl
rs1488809193
CA362778947
5 R>L No ClinGen
gnomAD
CA362778950
rs994713089
6 P>A No ClinGen
TOPMed
gnomAD
CA3640695
rs770549608
6 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA362778954
rs770549608
6 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA362778956
rs770549608
6 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA362778952
rs994713089
6 P>S No ClinGen
TOPMed
gnomAD
CA134827909
rs994713089
6 P>T No ClinGen
TOPMed
gnomAD
CA134827925
rs1026394258
7 R>* No ClinGen
TOPMed
gnomAD
CA362778963
rs1026394258
7 R>G No ClinGen
TOPMed
gnomAD
CA362778968
rs886550846
7 R>L No ClinGen
TOPMed
gnomAD
rs886550846
CA134827929
7 R>P No ClinGen
TOPMed
gnomAD
rs886550846
CA362778965
7 R>Q No ClinGen
TOPMed
gnomAD
CA3640698
rs767023705
8 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA3640697
rs767023705
8 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA362778996
rs767023705
8 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs775412864
CA362779006
9 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA362779012
rs1457923211
9 S>F No ClinGen
gnomAD
rs775412864
CA3640699
9 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA3640700
rs762794506
10 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1297149653
CA362779016
10 R>S No ClinGen
gnomAD
CA362779044
rs1355156743
12 P>L No ClinGen
TOPMed
gnomAD
CA362779043
rs1355156743
12 P>R No ClinGen
TOPMed
gnomAD
rs1289361298
CA362779035
12 P>S No ClinGen
gnomAD
rs1289361298
CA362779037
12 P>T No ClinGen
gnomAD
CA134827976
rs768750065
13 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs768750065
CA3640701
13 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1022508478
CA134827982
13 A>V No ClinGen
gnomAD
CA362779069
rs1203885248
14 S>L No ClinGen
gnomAD
rs1481739173
CA362779076
15 A>E No ClinGen
TOPMed
gnomAD
rs1162944957
CA362779073
15 A>T No ClinGen
TOPMed
CA362779078
rs1481739173
15 A>V No ClinGen
TOPMed
gnomAD
CA362779087
rs1475273992
16 E>G No ClinGen
TOPMed
CA362779099
rs1185574516
17 A>E No ClinGen
gnomAD
CA362779095
rs1474721508
17 A>T No ClinGen
gnomAD
rs1218545809
CA362779109
18 M>V No ClinGen
TOPMed
CA134827988
rs576016625
19 V>G No ClinGen
1000Genomes
rs1169125343
CA362779132
20 D>G No ClinGen
gnomAD
CA362779129
rs1405918554
20 D>N No ClinGen
gnomAD
CA362779142
rs1457258929
21 E>Q No ClinGen
TOPMed
gnomAD
CA362779165
rs1352320101
23 Q>* No ClinGen
gnomAD
rs1463079470
CA362779169
23 Q>H No ClinGen
gnomAD
CA362779182
rs1584896686
24 L>P No ClinGen
Ensembl
CA362779232
rs1380491201
28 E>D No ClinGen
TOPMed
gnomAD
rs1295552540
CA362779229
28 E>G No ClinGen
gnomAD
rs968187122
CA134827999
28 E>K No ClinGen
TOPMed
gnomAD
CA3640704
rs760671762
29 E>D No ClinGen
ExAC
gnomAD
CA362779238
rs1361003048
29 E>K No ClinGen
TOPMed
rs993951658
CA134828005
30 E>A No ClinGen
TOPMed
TCGA novel 30 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1205968388
CA362779272
31 A>G No ClinGen
gnomAD
rs1484840188
CA362779292
33 H>Y No ClinGen
gnomAD
rs1208417988
CA362779318
34 G>E No ClinGen
TOPMed
gnomAD
rs1351728705
CA362779347
37 L>I No ClinGen
TOPMed
CA362779361
rs1417300610
38 G>R No ClinGen
gnomAD
rs1420512904
CA362779372
39 Q>* No ClinGen
TOPMed
CA362779407
rs1168699257
42 S>R No ClinGen
gnomAD
CA362779431
rs1394079601
43 G>D No ClinGen
gnomAD
CA134828064
rs1007099608
44 A>T No ClinGen
TOPMed
gnomAD
rs1294465328
CA362779440
44 A>V No ClinGen
gnomAD
CA362779483
rs1360167896
CA362779485
47 E>D No ClinGen
gnomAD
CA362779492
rs1584896836
48 P>L No ClinGen
Ensembl
rs1430482796
CA362779502
49 L>R No ClinGen
gnomAD
CA134828100
rs956006981
50 E>V No ClinGen
Ensembl
rs1018202144
CA362779516
51 E>* No ClinGen
TOPMed
gnomAD
CA3640708
rs545142311
COSM4160208
51 E>D thyroid [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs1364742796
CA362779522
51 E>G No ClinGen
gnomAD
rs1018202144
CA134828109
51 E>K No ClinGen
TOPMed
gnomAD
CA362779538
rs1302814880
52 D>E No ClinGen
gnomAD
rs1345984232
CA362779543
53 E>* No ClinGen
TOPMed
gnomAD
rs957490832
CA134828116
55 G>E No ClinGen
TOPMed
gnomAD
rs990063143
CA134828117
56 D>V No ClinGen
TOPMed
gnomAD
rs1273275647
CA362779591
57 D>V No ClinGen
TOPMed
rs1240233578
CA362779701
62 E>G No ClinGen
gnomAD
rs754300779
CA3640711
63 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1188609350
CA362779729
63 A>V No ClinGen
gnomAD
rs1394024144
CA362779765
65 E>A No ClinGen
gnomAD
CA362779759
rs1394024144
65 E>V No ClinGen
gnomAD
rs755408516
CA3640712
66 E>K No ClinGen
ExAC
gnomAD
CA134828145
rs868034949
67 L>M No ClinGen
Ensembl
rs1351423263
CA362779813
68 T>A No ClinGen
Ensembl
rs1157409370
CA362779820
68 T>I No ClinGen
gnomAD
CA362779818
rs1157409370
68 T>S No ClinGen
gnomAD
rs11540715
CA362779837
69 F>C No ClinGen
gnomAD
rs765783930
CA3640714
69 F>L No ClinGen
ExAC
gnomAD
CA134828161
rs11540715
69 F>S No ClinGen
gnomAD
rs1296468325
CA362779855
70 A>S No ClinGen
TOPMed
CA362779865
rs1584896965
71 S>G No ClinGen
Ensembl
CA3640715
rs753226474
74 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1275618928
CA362779942
75 E>* No ClinGen
gnomAD
CA134828179
rs991367715
76 A>V No ClinGen
TOPMed
rs948415593
CA134828197
78 E>K No ClinGen
TOPMed
gnomAD
CA3640717
rs780691592
79 E>D No ClinGen
ExAC
gnomAD
CA362780014
rs1331127283
80 E>K No ClinGen
TOPMed
gnomAD
CA362780025
rs1177775290
81 R>W No ClinGen
TOPMed
rs745492028
CA3640718
83 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA362780050
rs1249045732
84 R>Q No ClinGen
TOPMed
CA362780066
rs1466701761
85 E>D No ClinGen
gnomAD
rs1232557604
CA362780057
85 E>K No ClinGen
gnomAD
TCGA novel 85 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371984716
CA3640722
88 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs540079238
CA3640723
88 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA362780119
rs1164750601
89 R>G No ClinGen
gnomAD
CA3640750
rs770128633
90 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA3640751
rs770128633
90 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA362780299
rs1243885782
91 K>N No ClinGen
TOPMed
rs1474446328
CA362780311
92 T>K No ClinGen
TOPMed
gnomAD
rs1474446328
CA362780313
92 T>M No ClinGen
TOPMed
gnomAD
rs1474446328
CA362780312
92 T>R No ClinGen
TOPMed
gnomAD
rs1391000206
CA362780318
93 L>F No ClinGen
TOPMed
gnomAD
CA3640752
rs143073366
94 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3640754
rs752025456
97 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA3640753
rs764711363
97 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA3640755
rs760188337
98 R>K No ClinGen
ExAC
gnomAD
rs753481615
CA3640757
102 E>G No ClinGen
ExAC
gnomAD
rs1584897365
TCGA novel
CA362780511
106 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA362780545
rs1225512956
108 Q>P No ClinGen
gnomAD
CA362780555
rs1425306149
109 K>* No ClinGen
TOPMed
rs745993107
CA3640787
111 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA362780689
rs1584898404
112 K>N No ClinGen
Ensembl
CA134829213
rs370016680
113 L>V No ClinGen
ESP
TOPMed
rs150690716
CA3640790
115 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1389328737
CA362780725
116 D>N No ClinGen
gnomAD
TCGA novel 117 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772497148
CA3640794
117 T>P No ClinGen
ExAC
gnomAD
rs776260445
CA3640795
118 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs747839400
CA134829246
120 E>G No ClinGen
Ensembl
rs1306725625
CA362780820
124 T>I No ClinGen
gnomAD
rs995716706
CA134829249
125 A>V No ClinGen
Ensembl
rs759067282
CA3640796
126 S>L No ClinGen
ExAC
gnomAD
rs945259082
CA134836098
130 I>M No ClinGen
TOPMed
gnomAD
TCGA novel 131 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs563589049
CA3640838
131 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1280597947
CA362781281
132 K>I No ClinGen
TOPMed
CA3640840
rs750301041
133 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA3640839
rs750301041
133 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 136 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3640843
rs371855659
138 K>T No ClinGen
ESP
ExAC
TOPMed
TCGA novel 140 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3640844
rs778953813
140 V>L No ClinGen
ExAC
gnomAD
CA362781409
rs759155299
142 L>* No ClinGen
TOPMed
gnomAD
CA362781412
rs1186592806
142 L>F No ClinGen
TOPMed
rs759155299
CA134836426
142 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1248871558
CA362781433
145 K>R No ClinGen
gnomAD
rs1192749675
CA362781438
146 N>D No ClinGen
TOPMed
rs755873110
CA3640873
149 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs1046742673
CA362781464
149 C>F No ClinGen
gnomAD
rs746387374
CA3640874
149 C>G No ClinGen
ExAC
CA134836442
rs1046742673
149 C>S No ClinGen
gnomAD
CA134836444
rs781692387
150 E>K No ClinGen
TOPMed
rs1196736737
CA362781497
154 D>H No ClinGen
TOPMed
CA362781506
rs1449506663
155 S>P No ClinGen
gnomAD
CA362781511
rs1273720527
156 K>* No ClinGen
TOPMed
CA3640878
rs747793701
156 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA3640879
rs771749772
158 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs771749772
CA3640880
158 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs372106357
CA3640881
159 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362781535
rs1160004650
159 K>N No ClinGen
gnomAD
rs776365553
CA134836495
161 Q>* No ClinGen
ExAC
gnomAD
rs776365553
CA3640883
161 Q>E No ClinGen
ExAC
gnomAD
rs1329742623
CA819406588
161 Q>L* No ClinGen
TOPMed
rs759536441
CA3640884
161 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA3640885
rs765222106
163 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1392843763
CA362781581
167 S>G No ClinGen
TOPMed
CA134839260
rs915399267
168 Q>* No ClinGen
TOPMed
CA362781835
rs1271394992
170 K>R No ClinGen
TOPMed
CA3640913
rs750837924
171 S>I No ClinGen
ExAC
gnomAD
CA362781883
rs1170653180
172 Y>* No ClinGen
gnomAD
rs1341817505
CA362781876
172 Y>D No ClinGen
TOPMed
CA134839326
rs143778341
175 V>I No ClinGen
ESP
ExAC
TOPMed
CA3640915
rs143778341
175 V>L No ClinGen
ESP
ExAC
TOPMed
rs766861896
CA3640916
178 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA362781995
rs1399968605
179 D>G No ClinGen
gnomAD
CA3640919
COSM1545304
rs146992026
183 R>K lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs146992026
CA362782040
183 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362782060
rs1363755615
184 D>E No ClinGen
gnomAD
rs1054895185
CA134839356
185 S>* No ClinGen
TOPMed
gnomAD
rs777278711
CA3640920
186 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs370712203
CA362782091
188 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3640921
rs370712203
188 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362782124
rs1562291465
190 A>V No ClinGen
Ensembl
CA3640922
rs374410374
192 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780821261
CA3640923
194 I>T No ClinGen
ExAC
gnomAD
CA3640925
rs769503951
195 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs138029598
CA3640924
195 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1207112386
CA362782249
199 Y>C No ClinGen
TOPMed
rs768839852
CA3640928
200 G>R No ClinGen
ExAC
gnomAD
CA134839448
rs186388999
201 P>Q No ClinGen
1000Genomes
rs1029545504
CA134839437
201 P>S No ClinGen
TOPMed
gnomAD
rs1323535692
CA362782274
202 G>R No ClinGen
TOPMed
CA362782290
rs1284676461
203 T>N No ClinGen
TOPMed
rs1349541983
CA362782306
204 N>K No ClinGen
TOPMed
CA3640929
rs139715216
204 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362782338
rs1333354894
207 T>A No ClinGen
TOPMed
rs1392467658
CA362782406
209 N>S No ClinGen
gnomAD
rs768754075
CA3640951
210 K>R No ClinGen
ExAC
gnomAD
rs1408259402
CA362782484
213 S>F No ClinGen
TOPMed
CA3640952
rs779111944
213 S>P No ClinGen
ExAC
gnomAD
COSM1311589
rs748208703
CA3640953
214 L>F Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA134839656
rs930738568
216 N>K No ClinGen
gnomAD
rs376188783
CA3640954
216 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3640955
rs773419308
217 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA3640957
rs760821581
218 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1222935841
CA362782580
219 L>S No ClinGen
gnomAD
rs760009783
CA3640961
222 K>R No ClinGen
ExAC
gnomAD
TCGA novel 223 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362782699
rs1562291620
225 A>D No ClinGen
Ensembl
rs916237894
CA134839719
225 A>P No ClinGen
TOPMed
CA362782737
rs1481953109
227 Q>P No ClinGen
gnomAD
rs1246792902
CA362782743
228 F>L No ClinGen
TOPMed
rs1449159444
CA362782879
234 G>R No ClinGen
gnomAD
rs1187468961
CA362783509
235 I>F No ClinGen
gnomAD
rs1562291787
CA362783520
236 Q>K No ClinGen
Ensembl
rs544905440 238 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA362783562
rs1327322709
238 K>T No ClinGen
TOPMed
CA134840317
rs1031878989
239 Q>K No ClinGen
Ensembl
rs544905440 239 Q>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs771845437
CA134840321
241 A>V No ClinGen
Ensembl
CA362783641
rs1337839622
242 K>R No ClinGen
TOPMed
CA134840326
rs756154716
243 R>K No ClinGen
TOPMed
gnomAD
rs757352608
CA3641007
243 R>S No ClinGen
ExAC
CA134840336
rs955685371
244 F>I No ClinGen
Ensembl
CA362783682
rs1384233347
244 F>L No ClinGen
TOPMed
CA3641009
rs781355359
245 K>* No ClinGen
ExAC
CA3641008
rs781355359
245 K>E No ClinGen
ExAC
rs770128577
CA3641010
246 R>G No ClinGen
ExAC
gnomAD
rs149682751
CA3641011
246 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769092619
CA3641013
247 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3641012
rs372102737
247 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1431832461
CA362783762
249 M>I No ClinGen
gnomAD
rs375127918
CA134840413
249 M>L No ClinGen
ESP
TOPMed
CA3641014
rs774944427
250 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1217301146
CA362783814
252 K>R No ClinGen
gnomAD
CA3641018
rs759319676
253 M>I No ClinGen
ExAC
gnomAD
CA3641015
rs201690476
253 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3641017
rs776366110
253 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA3641016
rs201690476
253 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA134840473
rs969931425
255 T>S No ClinGen
Ensembl
rs765077361
CA3641020
256 K>N No ClinGen
ExAC
gnomAD
CA362783913
rs1487686619
257 K>T No ClinGen
gnomAD

No associated diseases with Q9UMY1

1 regional properties for Q9UMY1

Type Name Position InterPro Accession
domain Nucleolar protein 7, C-terminal 172 - 234 IPR012579

Functions

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

3 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

1 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9D7Z3 Nol7 Nucleolar protein 7 Mus musculus (Mouse) PR
10 20 30 40 50 60
MVQLRPRASR APASAEAMVD EGQLASEEEE AEHGLLLGQP SSGAAAEPLE EDEEGDDEFD
70 80 90 100 110 120
DEAPEELTFA SAQAEAREEE RRVRETVRRD KTLLKEKRKR REELFIEQKK RKLLPDTILE
130 140 150 160 170 180
KLTTASQTNI KKSPGKVKEV NLQKKNEDCE KGNDSKKVKV QKVQSVSQNK SYLAVRLKDQ
190 200 210 220 230 240
DLRDSRQQAA QAFIHNSLYG PGTNRTTVNK FLSLANKRLP VKRAAVQFLN NAWGIQKKQN
250
AKRFKRRWMV RKMKTKK