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

1 structures for Q9Y3F4

Entry ID Method Resolution Chain Position Source
AF-Q9Y3F4-F1 Predicted AlphaFoldDB

201 variants for Q9Y3F4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs200335719
CA6468053
2 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA384057019
rs140693042
3 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6468054
rs140693042
3 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1229176360
CA384057030
4 R>K No ClinGen
gnomAD
rs557894238
CA6468057
7 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA384057061
rs1259398089
9 T>N No ClinGen
gnomAD
rs1591981324
CA384057058
9 T>P No ClinGen
Ensembl
rs1259398089
CA384057062
9 T>S No ClinGen
gnomAD
TCGA novel 11 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6468059
rs767606744
12 G>V No ClinGen
ExAC
gnomAD
CA384057089
rs1473659360
13 H>Q No ClinGen
gnomAD
TCGA novel 13 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1474330710
CA384057109
17 V>L No ClinGen
TOPMed
gnomAD
CA384057117
rs1172990646
18 V>D No ClinGen
gnomAD
TCGA novel 20 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1188443
CA6468060
rs773642778
23 S>G lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6468061
rs761238306
23 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6468062
rs144566765
24 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763765976
CA6468065
28 Y>C No ClinGen
ExAC
gnomAD
CA384057180
rs1354475114
28 Y>H No ClinGen
gnomAD
rs751196693
CA6468066
29 G>A No ClinGen
ExAC
gnomAD
rs751196693
CA233634280
29 G>V No ClinGen
ExAC
gnomAD
CA6468067
rs756773642
30 Y>N No ClinGen
ExAC
gnomAD
CA6468068
rs780849482
32 L>* No ClinGen
ExAC
gnomAD
CA384057234
rs1591981383
36 C>G No ClinGen
Ensembl
CA384057378
rs1222209688
41 P>T No ClinGen
TOPMed
rs754743986
CA6468098
42 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA6468097
rs754743986
42 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs200245531
CA384057454
52 I>N No ClinGen
1000Genomes
ExAC
gnomAD
CA6468100
rs200245531
52 I>T No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 53 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1459523849
CA384057480
56 L>W No ClinGen
gnomAD
rs1196898893
CA384057535
64 G>R No ClinGen
gnomAD
TCGA novel 64 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6468101
rs777801288
66 T>A No ClinGen
ExAC
gnomAD
CA384057586
rs1189988255
72 T>A No ClinGen
TOPMed
gnomAD
CA6468103
rs529311415
74 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1475314480
CA384057607
75 A>G No ClinGen
TOPMed
gnomAD
rs1221519525
CA384057606
75 A>S No ClinGen
TOPMed
rs1021401518
CA233634592
79 A>S No ClinGen
TOPMed
rs1242573212
CA384057679
84 K>N No ClinGen
TOPMed
rs1288123069
CA384057681
85 V>M No ClinGen
gnomAD
rs1354702261
CA384057692
86 W>* No ClinGen
TOPMed
CA233636535
rs947112729
87 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1368326833
CA384057712
89 V>A No ClinGen
TOPMed
rs377104447
CA233636537
89 V>I No ClinGen
TOPMed
CA384057709
rs377104447
89 V>L No ClinGen
TOPMed
rs1258654008
CA384057719
90 S>L No ClinGen
gnomAD
CA384057726
rs1405478078
92 D>N No ClinGen
TOPMed
CA233636540
rs150796040
93 E>K No ClinGen
ESP
TOPMed
gnomAD
CA6468111
rs760184286
96 T>N No ClinGen
ExAC
gnomAD
CA6468113
rs753742857
98 A>G No ClinGen
ExAC
gnomAD
CA6468112
rs765820617
98 A>P No ClinGen
ExAC
gnomAD
TCGA novel 99 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 104 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1565574389
CA384057820
105 T>S No ClinGen
Ensembl
rs547715659
CA6468115
109 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs139147519
CA6468131
111 D>G No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs139147519
CA6468132
111 D>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs765899633
CA6468130
111 D>Y No ClinGen
ExAC
gnomAD
rs1347216330
CA384057875
112 S>G No ClinGen
gnomAD
TCGA novel 114 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM107813
rs149620856
CA233636753
115 L>F skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA233636755
rs1048672472
117 T>A No ClinGen
gnomAD
rs1273046185
CA384057914
117 T>S No ClinGen
TOPMed
TCGA novel 118 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 119 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384057940
rs1359976654
121 D>G No ClinGen
gnomAD
CA384057951
rs1591985400
122 K>N No ClinGen
Ensembl
rs999690976
CA384057964
125 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs999690976
CA233636759
125 R>G No ClinGen
TOPMed
gnomAD
rs752651730
CA6468134
COSM172977
125 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1370845176
CA384057973
126 I>M No ClinGen
gnomAD
CA6468135
rs200103299
126 I>V No ClinGen
1000Genomes
ExAC
TOPMed
rs777545691
CA6468136
127 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 127 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384057996
rs1318412644
130 N>H No ClinGen
gnomAD
rs144953681
CA6468138
130 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA384058007
rs1259712097
131 K>R No ClinGen
gnomAD
CA6468139
rs781313896
132 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA6468140
rs745977935
132 P>L No ClinGen
ExAC
gnomAD
CA6468156
rs767598118
137 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA384058091
rs1458533168
141 G>V No ClinGen
TOPMed
CA384058124
rs1260383167
146 I>M No ClinGen
TOPMed
rs1470408003 149 A>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs780287241
CA6468159
149 A>T No ClinGen
ExAC
gnomAD
CA384058147
rs1197060982
COSM937633
150 L>V endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
CA6468160
rs749808917
152 C>Y No ClinGen
ExAC
gnomAD
CA384058174
rs1565575759
153 S>R No ClinGen
Ensembl
CA384058183
rs1476294209
155 D>N No ClinGen
gnomAD
CA384058186
rs1565575763
155 D>V No ClinGen
Ensembl
rs755591994
CA384058215
159 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs755591994
CA6468161
159 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1230056609
CA384058224
160 S>F No ClinGen
TOPMed
rs1393846141
CA384058235
162 D>G No ClinGen
gnomAD
CA233637820
rs149067547
162 D>H No ClinGen
ESP
TOPMed
gnomAD
rs1219426417
CA384058261
166 V>L No ClinGen
gnomAD
rs902903501
CA233637823
167 R>L No ClinGen
TOPMed
gnomAD
rs902903501
CA384058268
167 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6468181
rs754011605
168 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA384058288
rs1257134211
169 W>R No ClinGen
gnomAD
rs755139045
CA6468182
171 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs755139045
CA384058307
171 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA6468183
rs779238193
172 A>D No ClinGen
ExAC
gnomAD
rs779238193
CA384058314
172 A>V No ClinGen
ExAC
gnomAD
CA6468184
rs753260309
173 T>A No ClinGen
ExAC
gnomAD
rs531501241
CA6468185
173 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA384058327
rs1397385547
174 M>I No ClinGen
gnomAD
CA384058324
rs1166669636
174 M>T No ClinGen
gnomAD
CA384058321
rs1430192833
174 M>V No ClinGen
TOPMed
COSM937635
rs1416560685
CA384058337
176 E>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA384058347
rs1435755350
177 V>A No ClinGen
gnomAD
CA6468187
rs745503480
178 K>E No ClinGen
ExAC
gnomAD
rs143256276
CA6468188
178 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384058367
rs1320966580
181 N>D No ClinGen
gnomAD
rs146678081
CA6468190
181 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA384058383
rs1591987838
183 N>D No ClinGen
Ensembl
rs140234137
CA233638183
183 N>S No ClinGen
ESP
gnomAD
rs1041121617
CA233638185
187 S>G No ClinGen
TOPMed
rs1565576163
CA384058411
187 S>T No ClinGen
Ensembl
CA233638187
rs943324170
189 M>V No ClinGen
Ensembl
rs761817170
CA6468193
193 P>H No ClinGen
ExAC
gnomAD
rs369553392
COSM692994
CA6468192
193 P>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs771760502
CA6468194
196 E>G No ClinGen
ExAC
gnomAD
rs773118484
CA6468195
198 L>S No ClinGen
ExAC
TCGA novel 202 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1285135784
CA384058528
204 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA233638197
rs375544344
205 S>C No ClinGen
ESP
CA6468197
rs766668044
206 I>V No ClinGen
ExAC
gnomAD
CA6468198
rs754134145
207 A>G No ClinGen
ExAC
gnomAD
rs1421268864
CA384058609
215 D>N No ClinGen
gnomAD
rs1364054432
CA384058622
216 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA384058617
rs1182952173
216 P>T No ClinGen
gnomAD
CA384058624
rs1472055918
217 I>F No ClinGen
gnomAD
rs765215889
CA6468217
219 S>C No ClinGen
ExAC
CA384058645
rs1200834560
220 F>V No ClinGen
gnomAD
rs1156391069
CA384058656
221 E>G No ClinGen
gnomAD
CA384058663
rs1419406234
222 A>G No ClinGen
gnomAD
CA6468218
rs752866252
225 T>A No ClinGen
ExAC
gnomAD
rs1325173388
CA384058680
225 T>S No ClinGen
gnomAD
rs1388429251
CA384058693
227 N>I No ClinGen
TOPMed
gnomAD
CA384058701
rs1392972353
228 S>F No ClinGen
gnomAD
rs1329262950
CA384058719
231 L>P No ClinGen
gnomAD
CA6468219
rs145164927
232 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6468220
rs764626491
233 P>L No ClinGen
ExAC
gnomAD
rs1238158252
CA384058758
237 F>L No ClinGen
TOPMed
rs1264249566
CA384058766
238 L>V No ClinGen
gnomAD
CA6468225
rs185224819
242 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
TCGA novel 243 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6468226
rs754719468
244 D>V No ClinGen
ExAC
gnomAD
TCGA novel 248 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs531686762
CA6468228
254 S>C No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 255 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 256 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465717027
CA384058946
261 Y>C No ClinGen
TOPMed
gnomAD
TCGA novel 263 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384058993
rs1167800635
268 I>V No ClinGen
TOPMed
rs553115575
CA233639486
272 R>S No ClinGen
1000Genomes
CA6468245
rs764894800
274 S>G No ClinGen
ExAC
gnomAD
CA384059067
rs1368360222
275 P>A No ClinGen
TOPMed
CA233639494
rs374693662
276 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 278 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374482822
CA233639500
280 Y>C No ClinGen
ESP
rs1465678599
CA384059133
280 Y>H No ClinGen
gnomAD
rs1565577504
CA384059179
283 G>V No ClinGen
Ensembl
CA6468249
rs777491937
298 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1253821180
CA384059379
COSM937640
299 T>M endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA384059417
rs1447576787
302 L>F No ClinGen
gnomAD
TCGA novel 304 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA233639522
rs865946903
307 L>P No ClinGen
Ensembl
rs867656774
CA233639525
308 P>S No ClinGen
Ensembl
CA6468267
rs375283378
310 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756855420
CA6468269
311 D>N No ClinGen
ExAC
gnomAD
rs1228636670
CA384059816
312 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1287244999
CA384059838
314 E>K No ClinGen
gnomAD
CA233639813
rs565040350
320 I>M No ClinGen
1000Genomes
rs150448537
CA6468273
320 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA233639809
rs1004702555
320 I>V No ClinGen
TOPMed
gnomAD
rs906523286
CA233639815
321 G>V No ClinGen
Ensembl
rs777706138
CA233639821
322 F>L No ClinGen
TOPMed
gnomAD
rs1219189364
CA384059942
325 T>A No ClinGen
gnomAD
CA384059944
rs1234380866
325 T>I No ClinGen
gnomAD
rs768917886
CA6468276
327 E>K No ClinGen
ExAC
gnomAD
rs746834109
CA6468277
329 E>D No ClinGen
ExAC
gnomAD
rs143931116
CA6468303
331 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA384060125
rs1436183128
332 E>G No ClinGen
gnomAD
CA384060117
rs1340134340
332 E>K No ClinGen
TOPMed
gnomAD
rs1029734714
CA233640407
336 E>A No ClinGen
TOPMed
TCGA novel 336 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748372811
CA6468305
337 N>T No ClinGen
ExAC
gnomAD
rs772131985
CA6468306
338 S>* No ClinGen
ExAC
gnomAD
rs867398202
CA233640412
338 S>A No ClinGen
Ensembl
CA384060211
rs1234150249
339 D>G No ClinGen
gnomAD
CA6468307
rs777773134
340 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs777773134
CA384060224
340 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6468309
rs371184789
342 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 343 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 344 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA384060291
rs1474125124
345 A>G No ClinGen
Ensembl
rs1166953541
CA384060305
347 D>G No ClinGen
Ensembl
CA384060313
rs1349705233
348 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD

No associated diseases with Q9Y3F4

7 regional properties for Q9Y3F4

Type Name Position InterPro Accession
repeat WD40 repeat 3 - 45 IPR001680-1
repeat WD40 repeat 48 - 210 IPR001680-2
repeat WD40 repeat 213 - 251 IPR001680-3
repeat WD40 repeat 254 - 293 IPR001680-4
repeat G-protein beta WD-40 repeat 74 - 88 IPR020472-1
repeat G-protein beta WD-40 repeat 115 - 129 IPR020472-2
repeat G-protein beta WD-40 repeat 280 - 294 IPR020472-3

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Localized predominantly in the cytoplasm but also found in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 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.
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.
SMN complex A protein complex that contains the survival motor neuron (SMN) protein and at least eight additional integral components, including the Gemin2-8 and Unrip proteins; the complex is found in the cytoplasm and in nuclear Gems, and is involved in spliceosomal snRNP assembly in the cytoplasm and in pre-mRNA splicing in the nucleus.
SMN-Sm protein complex A protein complex formed by the association of several methylated Sm proteins with the SMN complex; the latter contains the survival motor neuron (SMN) protein and at least eight additional integral components, including the Gemin2-8 and unrip proteins; additional proteins, including galectin-1 and galectin-3, are also found in the SMN-SM complex. The SMN-Sm complex is involved in spliceosomal snRNP assembly in the cytoplasm.

4 GO annotations of molecular function

Name Definition
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding Binding to an RNA molecule or a portion thereof.
signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
U2 snRNP binding Binding to a U2 small nuclear ribonucleoprotein particle.

6 GO annotations of biological process

Name Definition
alternative mRNA splicing, via spliceosome The process of generating multiple mRNA molecules from a given set of exons by differential use of exons from the primary transcript(s) to form multiple mature mRNAs that vary in their exon composition.
maintenance of gastrointestinal epithelium Protection of epithelial surfaces of the gastrointestinal tract from proteolytic and caustic digestive agents.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transforming growth factor beta receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.
neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron.
spliceosomal snRNP assembly The aggregation, arrangement and bonding together of one or more snRNA and multiple protein components to form a ribonucleoprotein complex that is involved in formation of the spliceosome.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9Z1Z2 Strap Serine-threonine kinase receptor-associated protein Mus musculus (Mouse) PR
Q5XIG8 Strap Serine-threonine kinase receptor-associated protein Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAMRQTPLTC SGHTRPVVDL AFSGITPYGY FLISACKDGK PMLRQGDTGD WIGTFLGHKG
70 80 90 100 110 120
AVWGATLNKD ATKAATAAAD FTAKVWDAVS GDELMTLAHK HIVKTVDFTQ DSNYLLTGGQ
130 140 150 160 170 180
DKLLRIYDLN KPEAEPKEIS GHTSGIKKAL WCSEDKQILS ADDKTVRLWD HATMTEVKSL
190 200 210 220 230 240
NFNMSVSSME YIPEGEILVI TYGRSIAFHS AVSLDPIKSF EAPATINSAS LHPEKEFLVA
250 260 270 280 290 300
GGEDFKLYKY DYNSGEELES YKGHFGPIHC VRFSPDGELY ASGSEDGTLR LWQTVVGKTY
310 320 330 340
GLWKCVLPEE DSGELAKPKI GFPETTEEEL EEIASENSDC IFPSAPDVKA