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

5 structures for Q92979

Entry ID Method Resolution Chain Position Source
5FAI X-ray 180 A A 14-244 PDB
7MQ8 EM 360 A SJ/SK 1-244 PDB
7MQ9 EM 387 A SJ/SK 1-244 PDB
7MQA EM 270 A SJ/SK 1-244 PDB
AF-Q92979-F1 Predicted AlphaFoldDB

232 variants for Q92979

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000947413
rs60117710
RCV001664562
43 L>missing Bowen-Conradi syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000000938
CA114613
VAR_062480
rs74435397
86 D>G Bowen-conradi syndrome (bwcns) Bowen-Conradi syndrome BWCNS; studies in fibroblasts show a dramatically reduced level of EMG1 protein in a BWCNS-affected patient compared to normal fibroblasts although patient fibroblasts do not have complete EMG1 deficiency; the mutation increases dimerization of EMG1 subunits suggesting that aggregation of EMG1 leads to reduced levels of the protein [Ensembl, ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA383680276
rs1555152059
2 A>V No ClinGen
gnomAD
rs376055535
CA6422598
5 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383680317
rs149578211
5 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6422600
rs782711576
6 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs782118451
CA383680333
7 G>* No ClinGen
ExAC
TOPMed
gnomAD
rs782778398
CA6422602
7 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs782778398
CA383680335
7 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs782118451
CA6422601
7 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA383680358
rs782550075
8 F>L No ClinGen
ExAC
CA383680341
rs1231453871
8 F>V No ClinGen
TOPMed
CA6422607
rs782722332
CA6422606
9 K>N No ClinGen
ExAC
gnomAD
CA383680379
rs1320278594
10 P>S No ClinGen
TOPMed
gnomAD
CA383680388
rs782479150
11 R>C No ClinGen
ExAC
gnomAD
CA232443112
rs372361920
11 R>P No ClinGen
ESP
gnomAD
CA6422608
rs782479150
11 R>S No ClinGen
ExAC
gnomAD
CA383680397
rs1555152086
12 E>K No ClinGen
gnomAD
CA383680413
rs782628939
13 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA6422610
RCV000514815
rs36061201
13 R>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782546340
CA6422612
14 S>N No ClinGen
ExAC
gnomAD
rs782249279
CA232443118
14 S>R No ClinGen
Ensembl
rs782546340
CA6422611
14 S>T No ClinGen
ExAC
gnomAD
CA6422613
rs782175380
15 G>C No ClinGen
ExAC
gnomAD
rs782604752
CA6422616
16 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs782324364
CA6422615
16 G>W No ClinGen
ExAC
gnomAD
rs1338492839
CA383680462
17 E>V No ClinGen
TOPMed
rs782233712
CA6422617
18 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1402722258
CA383680471
18 Q>R No ClinGen
TOPMed
CA6422619
rs369617092
19 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6422620
rs369617092
19 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1555152118
CA383680484
19 A>V No ClinGen
gnomAD
CA6422621
rs782150637
20 Q>R No ClinGen
ExAC
gnomAD
CA383680509
rs906784380
21 D>E No ClinGen
gnomAD
CA6422622
rs782438220
21 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA383680536
rs1555152123
22 W>C No ClinGen
gnomAD
CA383680540
rs1555152124
23 D>N No ClinGen
gnomAD
rs1555152126
CA383680564
24 A>D No ClinGen
gnomAD
CA383680579
rs1555152130
25 L>P No ClinGen
gnomAD
rs782075048
CA383680596
27 P>H No ClinGen
ExAC
gnomAD
rs782075048
CA6422624
27 P>L No ClinGen
ExAC
gnomAD
rs782743040
CA6422625
28 K>Q No ClinGen
ExAC
gnomAD
CA232443138
rs1003756868
28 K>R No ClinGen
gnomAD
CA383680603
rs1003756868
28 K>T No ClinGen
gnomAD
rs781851789
CA6422626
30 P>L No ClinGen
ExAC
gnomAD
rs782126924
CA6422627
31 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA383680733
rs1370835199
33 G>E No ClinGen
TOPMed
gnomAD
VAR_050237
RCV000202817
rs11064480
CA249018
34 A>G No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6422630
rs782495453
34 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782495453
CA6422629
34 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA232443144
rs3168594
35 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA232443148
rs952438354
37 K>E No ClinGen
Ensembl
CA6422632
rs781824161
38 I>S No ClinGen
ExAC
gnomAD
rs782633987
CA6422634
39 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA383680886
rs1555152153
40 G>D No ClinGen
gnomAD
CA6422635
rs782266941
41 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782414000
CA6422636
41 R>H No ClinGen
ExAC
gnomAD
CA232443159
rs200041551
42 R>G No ClinGen
Ensembl
TCGA novel 42 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs17857448
CA232443166
CA232443164
42 R>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 43 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1218217281
CA383681046
48 E>K No ClinGen
TOPMed
rs781966739
CA6422639
50 A>T No ClinGen
ExAC
gnomAD
rs782103478
CA6422640
51 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA383681129
rs375042715
52 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383681178
rs1555152172
54 T>I No ClinGen
gnomAD
rs1555152177
CA383681182
55 V>I No ClinGen
gnomAD
rs1591705284
CA383681204
56 K>Q No ClinGen
Ensembl
rs1555152678
CA383682480
59 K>R No ClinGen
gnomAD
rs373473870
CA383682503
61 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1555152684 61 Y>* Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA] No NCI-TCGA
CA6422662
rs782339755
61 Y>C No ClinGen
ExAC
gnomAD
rs782793844
CA6422665
63 L>V No ClinGen
ExAC
gnomAD
rs782174904
CA6422667
65 N>S No ClinGen
ExAC
gnomAD
rs1464487209
CA383682602
66 C>Y No ClinGen
TOPMed
CA6422668
rs782707397
67 D>E No ClinGen
ExAC
gnomAD
rs782483867
CA6422670
69 H>R No ClinGen
ExAC
gnomAD
rs782521916
CA6422673
72 I>M No ClinGen
ExAC
gnomAD
rs377272519
CA6422672
72 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782749715
CA6422671
72 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs782172949
CA383682765
73 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1555152708
CA383682809
76 N>D No ClinGen
gnomAD
CA383682838
rs1555152709
76 N>S No ClinGen
gnomAD
CA6422677
rs782601712
77 G>E No ClinGen
ExAC
gnomAD
CA383682881
rs782179643
78 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782693598
CA6422681
78 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6422679
rs782179643
78 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383682912
rs1387282151
79 D>G No ClinGen
TOPMed
gnomAD
CA383682907
rs1555152718
79 D>Y No ClinGen
gnomAD
CA6422682
rs782276276
81 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs782422549
CA6422683
83 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1555152726
CA383682979
83 A>T No ClinGen
gnomAD
rs782422549
CA6422684
83 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782735967
CA6422686
84 R>Q No ClinGen
ExAC
gnomAD
rs782803599
CA6422688
87 I>T No ClinGen
ExAC
gnomAD
CA6422689
rs781896004
88 T>A No ClinGen
ExAC
gnomAD
CA383683137
rs1392318274
89 H>Y No ClinGen
TOPMed
gnomAD
CA6422691
rs782703604
90 Q>E No ClinGen
ExAC
gnomAD
rs1555152776
CA383683308
91 S>G No ClinGen
gnomAD
CA6422716
rs781910054
94 M>I No ClinGen
ExAC
gnomAD
rs782169084
CA6422715
94 M>R No ClinGen
1000Genomes
ExAC
gnomAD
rs782580920
CA6422718
95 L>P No ClinGen
ExAC
gnomAD
rs782456048
CA6422717
95 L>V No ClinGen
ExAC
gnomAD
CA6422719
rs781831826
98 S>N No ClinGen
ExAC
gnomAD
CA6422720
rs782486688
99 P>L No ClinGen
ExAC
gnomAD
rs782438469
CA232443863
100 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6422723
rs782418214
102 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782563434
CA6422724
102 R>Q No ClinGen
ExAC
gnomAD
CA6422726
rs782190613
103 A>G No ClinGen
ExAC
gnomAD
CA6422725
rs782190613
103 A>V No ClinGen
ExAC
gnomAD
CA383683568
rs1256862599
104 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA383683573
rs1256862599
104 G>V No ClinGen
TOPMed
rs781966629
CA6422727
106 L>V No ClinGen
ExAC
rs1555152797
CA383683605
107 Q>* No ClinGen
gnomAD
CA6422729
rs782648414
108 V>A No ClinGen
ExAC
rs1276535579
CA383683655
110 I>M No ClinGen
TOPMed
rs1484616063
CA383683653
110 I>S No ClinGen
TOPMed
rs993652525
CA232443878
111 H>R No ClinGen
TOPMed
gnomAD
rs199566199
CA6422731
113 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6422733
rs782018212
114 K>* No ClinGen
ExAC
CA383683710
CA383683708
rs1555152809
114 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1555152813
CA383683719
115 N>S No ClinGen
gnomAD
TCGA novel 116 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6422734
rs782169969
118 I>T No ClinGen
ExAC
gnomAD
CA383683750
rs1246417980
118 I>V No ClinGen
TOPMed
CA383683783
rs1555152817
120 V>M No ClinGen
gnomAD
CA6422736
rs781939868
122 P>A No ClinGen
ExAC
gnomAD
rs781812160
CA6422737
122 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA383683873
rs1555152820
124 T>I No ClinGen
TOPMed
gnomAD
CA383683868
rs1555152820
124 T>N No ClinGen
TOPMed
gnomAD
CA6422740
rs782538249
125 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA383683881
rs1555152823
125 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1309066030
CA383683912
127 P>L No ClinGen
TOPMed
CA6422741
rs782808257
129 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs782453517
CA6422743
133 F>L No ClinGen
ExAC
gnomAD
rs782226901
CA6422745
136 L>H No ClinGen
ExAC
rs781867583
CA6422766
141 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 145 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6422767
rs782548320
145 S>N No ClinGen
ExAC
gnomAD
rs782675633
CA6422768
146 V>A No ClinGen
ExAC
gnomAD
CA6422769
rs782181464
147 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA6422770
rs782181464
147 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA383684299
rs1555152914
147 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1171472029
CA383684313
149 A>P No ClinGen
TOPMed
gnomAD
CA6422772
rs782235442
150 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs782008843
CA6422774
152 P>L No ClinGen
ExAC
gnomAD
CA232443969
rs782441349
152 P>T No ClinGen
TOPMed
gnomAD
rs782301311
CA6422776
154 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1555152940
CA383684428
158 V>L No ClinGen
gnomAD
CA6422789
rs782493737
159 I>T No ClinGen
ExAC
gnomAD
rs1284796548
CA383684458
161 N>S No ClinGen
TOPMed
CA6422791
rs781882780
162 P>L No ClinGen
ExAC
gnomAD
CA6422790
rs782643000
162 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA6422792
rs372110507
163 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6422793
rs782554231
164 S>* No ClinGen
ExAC
gnomAD
rs782554231
CA383684487
164 S>L No ClinGen
ExAC
gnomAD
CA6422794
rs183026884
167 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1555152950
CA383684526
168 P>Q No ClinGen
gnomAD
CA383684532
rs1555152952
169 V>L No ClinGen
gnomAD
CA6422795
rs782334197
171 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA383684598
CA6422797
rs782245976
172 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA383684590
rs1169305243
172 M>T No ClinGen
TOPMed
rs1555152957
CA383684603
173 K>E No ClinGen
gnomAD
CA6422798
rs782391946
174 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA383684685
rs1555152961
178 F>S No ClinGen
gnomAD
CA383684684
rs1555152961
178 F>Y No ClinGen
gnomAD
CA6422799
rs782019701
179 S>Y No ClinGen
ExAC
gnomAD
CA6422800
rs782168206
181 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs782168206
CA383684743
181 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs782307546
CA6422801
182 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA383684747
rs1184862119
182 V>I No ClinGen
TOPMed
gnomAD
rs1202716378
CA383684768
183 V>D No ClinGen
TOPMed
rs781937222
CA6422802
184 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA383684829
rs1232720535
186 V>A No ClinGen
TOPMed
gnomAD
CA383684831
rs1232720535
186 V>G No ClinGen
TOPMed
gnomAD
rs201757338
CA6422803
186 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782741904
CA6422804
187 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782021249
CA383684854
187 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782021249
CA6422805
187 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782416705
CA6422807
190 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1555152978
CA383684962
193 S>N No ClinGen
gnomAD
CA383684986
rs1555152980
195 P>T No ClinGen
gnomAD
rs375741608
CA232444017
196 I>M No ClinGen
Ensembl
CA6422810
rs782605254
196 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6422811
rs781834410
197 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA383685011
rs1326057506
197 V>F No ClinGen
TOPMed
rs1326057506
CA383685008
197 V>I No ClinGen
TOPMed
CA383685044
rs1555152988
199 V>A No ClinGen
gnomAD
TCGA novel 199 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 200 V>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 201 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs971421303
CA232444021
202 A>D No ClinGen
Ensembl
rs782511052
CA6422812
202 A>T No ClinGen
ExAC
gnomAD
CA383685111
rs868957078
204 A>V No ClinGen
Ensembl
rs1591708751
CA383685123
205 H>P No ClinGen
Ensembl
rs1555152994
CA383685138
206 G>D No ClinGen
gnomAD
CA383685157
rs1407750518
207 K>R No ClinGen
TOPMed
rs1555153061
CA383685180
208 V>I No ClinGen
gnomAD
CA6422824
rs782044745
211 E>A No ClinGen
ExAC
gnomAD
rs782710641
CA6422825
213 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs200470095
CA6422827
214 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6422826
rs781943557
214 E>K No ClinGen
ExAC
gnomAD
rs200470095
CA383685269
214 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782751710
CA6422828
216 M>T No ClinGen
ExAC
gnomAD
CA6422830
rs782527998
217 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6422829
rs781869060
217 V>M No ClinGen
ExAC
gnomAD
CA383685331
rs1371430452
218 S>F No ClinGen
TOPMed
rs1555153073
CA383685320
218 S>T No ClinGen
gnomAD
CA383686781
rs782819014
219 I>N No ClinGen
ExAC
gnomAD
CA6422831
rs782819014
219 I>T No ClinGen
ExAC
gnomAD
CA6422832
rs781792612
220 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA383686847
rs1034343918
222 Y>* No ClinGen
gnomAD
CA383686841
rs1258116000
222 Y>C No ClinGen
TOPMed
rs1476171611
CA383686835
222 Y>H No ClinGen
TOPMed
rs74396478
CA6422833
223 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs3180956
CA383686893
225 S>F No ClinGen
Ensembl
rs1555153080
CA383686907
226 A>G No ClinGen
gnomAD
CA6422835
rs782235929
226 A>T No ClinGen
ExAC
gnomAD
CA6422836
rs782517421
229 T>P No ClinGen
ExAC
gnomAD
rs782647932
CA6422837
229 T>S No ClinGen
ExAC
CA6422839
rs369750549
230 C>R No ClinGen
ESP
ExAC
gnomAD
CA383687026
rs1252320547
233 L>F No ClinGen
TOPMed
rs1555153085
CA383687049
234 T>N No ClinGen
gnomAD
rs187673472
CA6422843
235 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6422844
rs374223610
236 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1336172483
CA383687146
238 E>K No ClinGen
TOPMed
CA383687221
rs1231926897
240 V>I No ClinGen
TOPMed
gnomAD
CA383687317
rs1555153095
241 W>* No ClinGen
gnomAD
TCGA novel 242 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782102656 243 V>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs782051183
CA6422848
243 V>L No ClinGen
ExAC
gnomAD
rs377663713
CA6422849
244 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q92979

No regional properties for Q92979

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q92979

Functions

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

6 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.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
small-subunit processome A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.

4 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
RNA binding Binding to an RNA molecule or a portion thereof.
rRNA (pseudouridine) methyltransferase activity Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a pseudouridine residue in an rRNA molecule.
rRNA binding Binding to a ribosomal RNA.

5 GO annotations of biological process

Name Definition
blastocyst development The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm.
nucleologenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells.
ribosomal small subunit biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a small ribosomal subunit; includes transport to the sites of protein synthesis.
rRNA base methylation The addition of a methyl group to an atom in the nucleoside base portion of a nucleotide residue in an rRNA molecule.
rRNA processing Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9W4J5 CG3527 Ribosomal RNA small subunit methyltransferase NEP1 Drosophila melanogaster (Fruit fly) PR
10 20 30 40 50 60
MAAPSDGFKP RERSGGEQAQ DWDALPPKRP RLGAGNKIGG RRLIVVLEGA SLETVKVGKT
70 80 90 100 110 120
YELLNCDKHK SILLKNGRDP GEARPDITHQ SLLMLMDSPL NRAGLLQVYI HTQKNVLIEV
130 140 150 160 170 180
NPQTRIPRTF DRFCGLMVQL LHKLSVRAAD GPQKLLKVIK NPVSDHFPVG CMKVGTSFSI
190 200 210 220 230 240
PVVSDVRELV PSSDPIVFVV GAFAHGKVSV EYTEKMVSIS NYPLSAALTC AKLTTAFEEV
WGVI