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 Q8N9W6

Entry ID Method Resolution Chain Position Source
AF-Q8N9W6-F1 Predicted AlphaFoldDB

195 variants for Q8N9W6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA2045130
rs61732251
2 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1305759786
CA350383411
2 Q>R No ClinGen
TOPMed
CA350383401
rs1184846631
4 D>H No ClinGen
TOPMed
gnomAD
CA2045129
rs115292776
4 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA350383391
rs1208798087
5 S>* No ClinGen
gnomAD
TCGA novel 5 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 5 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA63565920
rs961844032
7 S>C No ClinGen
TOPMed
CA2045127
rs141986181
9 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA350383365
rs754347465
10 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA2045126
rs754347465
10 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA350383356
rs1286206965
11 N>S No ClinGen
gnomAD
COSM1014565
rs761048419
CA2045125
COSM1014566
12 P>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2045124
rs761048419
12 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2045123
rs773500620
13 V>A No ClinGen
ExAC
gnomAD
rs1360997218
CA350383327
16 V>G No ClinGen
gnomAD
rs140394268
CA63565845
16 V>M No ClinGen
ESP
TOPMed
gnomAD
CA350383309
rs1417796845
19 N>S No ClinGen
TOPMed
rs762007977
CA2045121
20 N>I No ClinGen
ExAC
gnomAD
rs1456890221
CA350383292
22 T>A No ClinGen
gnomAD
rs774476981
CA2045120
22 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1456890221
CA350383291
22 T>P No ClinGen
gnomAD
rs768635166
CA2045119
23 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA2045118
rs749175418
23 S>R No ClinGen
ExAC
gnomAD
rs775602017
CA2045117
25 P>A No ClinGen
ExAC
gnomAD
CA350383265
rs1471500906
26 R>S No ClinGen
gnomAD
rs536465928
CA2045116
26 R>T No ClinGen
1000Genomes
ExAC
gnomAD
CA350383246
rs1244470996
29 T>I No ClinGen
gnomAD
rs745623797
CA2045115
31 I>T No ClinGen
ExAC
gnomAD
CA2045114
rs377264153
34 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA350383216
rs1265929699
34 R>H No ClinGen
gnomAD
rs1265929699
CA350383214
34 R>L No ClinGen
gnomAD
CA2045112
rs746650488
37 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs777269851
CA2045111
COSM718635
38 G>A lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA350383185
rs1381310177
39 G>E No ClinGen
gnomAD
rs553910561
CA2045110
40 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA350383171
rs1464564258
41 D>V No ClinGen
TOPMed
CA350216491
rs1292117671
44 T>K No ClinGen
gnomAD
COSM1404323
rs778462794
COSM1404322
CA2045089
46 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs778462794
CA63733262
46 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2045088
rs761940825
47 S>N No ClinGen
ExAC
gnomAD
rs1428471901
CA350216460
49 L>V No ClinGen
gnomAD
CA350216440
rs1167355957
51 K>N No ClinGen
gnomAD
CA350216439
rs750907998
52 F>I No ClinGen
ExAC
gnomAD
rs750907998
CA2045087
52 F>L No ClinGen
ExAC
gnomAD
TCGA novel 53 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1428711101 54 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1424108657
CA350216407
56 Y>C No ClinGen
gnomAD
rs1490783289
CA350216402
57 G>R No ClinGen
gnomAD
CA350216393
rs1574868065
58 S>Y No ClinGen
Ensembl
rs1204387881
CA350216338
66 N>S No ClinGen
gnomAD
CA2045085
rs757597509
69 A>V No ClinGen
ExAC
gnomAD
rs751758762
CA2045084
71 V>I No ClinGen
ExAC
gnomAD
rs1311826563
CA350216287
72 S>Y No ClinGen
gnomAD
CA2045083
rs377038167
73 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs577424738
COSM1404320
COSM1404321
CA2045072
78 V>I salivary_gland large_intestine breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1558997200
CA350216227
79 T>A No ClinGen
Ensembl
CA350216225
rs1391397080
79 T>N No ClinGen
TOPMed
gnomAD
rs1391397080
CA350216224
79 T>S No ClinGen
TOPMed
gnomAD
CA2045071
rs778337759
82 T>P No ClinGen
ExAC
gnomAD
CA2045069
rs746350560
83 Q>R No ClinGen
ExAC
gnomAD
rs906554146
CA63732419
85 D>V No ClinGen
TOPMed
CA2045067
rs757834928
86 A>V No ClinGen
ExAC
gnomAD
CA2045066
rs751862100
88 K>T No ClinGen
ExAC
gnomAD
CA350216159
rs1365410986
89 I>L No ClinGen
gnomAD
CA350216132
rs1472603644
92 E>V No ClinGen
TOPMed
CA2045052
rs200336393
93 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA2045051
rs774026616
94 E>G No ClinGen
ExAC
gnomAD
TCGA novel 96 L>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA350215976
rs1251303226
98 Y>C No ClinGen
TOPMed
CA63731849
rs749281445
105 I>V No ClinGen
Ensembl
CA350215908
rs1209662890
108 A>T No ClinGen
gnomAD
rs779657994
CA2045047
108 A>V No ClinGen
ExAC
gnomAD
rs985863702
CA63731838
110 R>K No ClinGen
TOPMed
gnomAD
rs747527656
CA2045045
114 V>L No ClinGen
ExAC
gnomAD
TCGA novel 115 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2045027
rs773876427
119 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1231357650
CA350214457
120 S>G No ClinGen
gnomAD
rs201051448
CA2045026
120 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1444386001
CA350214439
121 I>V No ClinGen
gnomAD
CA63730180
rs368770987
122 M>V No ClinGen
ESP
TOPMed
gnomAD
CA63730176
rs933779933
123 P>L No ClinGen
Ensembl
CA2045025
rs748492405
125 A>G No ClinGen
ExAC
gnomAD
rs755142681
CA2045023
126 G>R No ClinGen
ExAC
gnomAD
rs1177579366
CA350214342
127 T>I No ClinGen
gnomAD
TCGA novel 128 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1457054155
CA350214262
132 T>N No ClinGen
gnomAD
rs1271659816
CA350214229
134 T>A No ClinGen
TOPMed
CA2045022
rs149921275
136 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
rs779934078
CA2045021
137 P>A No ClinGen
ExAC
gnomAD
rs921014323
CA63730141
138 Y>* No ClinGen
TOPMed
TCGA novel 140 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 141 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs975681893
CA63730137
141 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA350214053
rs1574858443
143 G>D No ClinGen
Ensembl
CA350214022
rs1278089537
145 A>V No ClinGen
TOPMed
CA350213963
rs1486397092
149 T>I No ClinGen
TOPMed
CA350213959
rs1182487724
150 P>S No ClinGen
gnomAD
rs1203999953
CA350213895
153 T>S No ClinGen
TOPMed
gnomAD
COSM1404318
CA2045019
COSM1404319
rs750315080
154 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2045015
rs763959371
156 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA350213838
rs762441343
157 P>L No ClinGen
ExAC
gnomAD
rs762441343
CA2045014
157 P>Q No ClinGen
ExAC
gnomAD
rs753383912
CA2044992
162 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA350212440
rs1432014139
162 R>H Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA350212435
rs1432014139
162 R>L No ClinGen
TOPMed
gnomAD
CA2044993
COSM718639
rs753383912
162 R>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372809620
CA63728060
164 V>A No ClinGen
ESP
TOPMed
CA2044991
rs766002606
164 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA350212402
rs143157211
165 C>G No ClinGen
ESP
TOPMed
gnomAD
CA63728056
rs143157211
165 C>R No ClinGen
ESP
TOPMed
gnomAD
CA2044990
rs762343625
166 S>R No ClinGen
ExAC
gnomAD
rs1574851048
CA350212323
169 V>G No ClinGen
Ensembl
CA350212334
rs1483773906
169 V>M No ClinGen
gnomAD
CA63728047
rs896306425
170 M>I No ClinGen
TOPMed
rs774954759
CA2044989
170 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA350212312
rs1417016670
170 M>T No ClinGen
gnomAD
rs774954759
CA350212317
170 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1241357648
CA350212288
172 A>P No ClinGen
TOPMed
CA63728043
rs1034931131
172 A>V No ClinGen
TOPMed
gnomAD
CA350212276
rs1486081993
173 Q>K No ClinGen
gnomAD
CA2044988
rs149053508
174 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs61642236
CA63728017
175 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61642236
CA2044986
175 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139427403
CA2044985
176 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1168240424
CA350212182
178 Q>H No ClinGen
TOPMed
rs1226863820
CA350212169
179 P>L No ClinGen
gnomAD
CA350212158
rs1559411184
180 A>E No ClinGen
Ensembl
rs746150874
CA2044984
181 Y>C No ClinGen
ExAC
gnomAD
CA350212086
rs1402299365
184 Q>E No ClinGen
TOPMed
CA63723882
rs1047570451
185 A>D No ClinGen
TOPMed
gnomAD
TCGA novel 185 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1469620979
CA350210689
190 L>* No ClinGen
TOPMed
rs199838771
CA2044946
190 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs777017173
CA2044945
191 P>S No ClinGen
ExAC
CA350210644
rs1262746156
196 W>C No ClinGen
Ensembl
CA63723841
rs147772767
196 W>G No ClinGen
ESP
ExAC
gnomAD
CA2044944
rs147772767
196 W>R No ClinGen
ESP
ExAC
gnomAD
rs865850670
CA63723840
198 V>F No ClinGen
Ensembl
rs760862723
CA2044943
199 P>L No ClinGen
ExAC
gnomAD
CA2044931
rs756735511
204 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1574837614
CA350210567
207 P>S No ClinGen
Ensembl
rs1356604754
CA350210552
209 L>S No ClinGen
gnomAD
CA350210547
rs1302213585
210 Y>H No ClinGen
TOPMed
CA2044928
rs755544199
212 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1339680520
CA350210532
212 Q>R No ClinGen
gnomAD
TCGA novel 214 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 215 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1328016928
CA350210515
215 E>Q No ClinGen
gnomAD
CA350210455
rs1320915517
223 I>T No ClinGen
TOPMed
gnomAD
rs766665322
CA2044926
225 Q>K No ClinGen
ExAC
gnomAD
CA350210438
rs1404237853
226 D>H No ClinGen
gnomAD
CA2044925
rs760884201
227 G>R No ClinGen
ExAC
gnomAD
rs1305029704
CA350210395
232 P>L No ClinGen
TOPMed
gnomAD
rs1395970693
CA350210390
233 P>L No ClinGen
gnomAD
rs560852404
CA2044924
233 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2044922
rs761963473
234 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA2044923
rs761963473
234 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs774616057
CA2044921
235 S>F No ClinGen
ExAC
gnomAD
CA2044920
rs768713144
237 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs140027779
CA63723380
238 E>G No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 239 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1200870892
CA350210350
240 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2044900
rs751679778
246 S>P No ClinGen
ExAC
gnomAD
rs1235719647
CA350209394
248 H>Q No ClinGen
TOPMed
CA63713247
rs867709728
250 V>F No ClinGen
Ensembl
rs986619330
CA63713245
252 A>E No ClinGen
gnomAD
CA350209355
rs762920202
255 H>D No ClinGen
ExAC
gnomAD
CA2044897
rs775325443
255 H>Q No ClinGen
ExAC
gnomAD
CA2044898
rs762920202
255 H>Y No ClinGen
ExAC
gnomAD
rs946892434
CA63713242
257 V>I No ClinGen
Ensembl
CA63713236
rs915401766
259 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA350209324
rs915401766
259 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs375573791
CA2044896
261 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1447074543
CA350209297
264 T>P No ClinGen
TOPMed
CA350209294
rs1441018135
264 T>S No ClinGen
gnomAD
rs759218045
CA2044895
265 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA350209273
rs372015936
267 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2044894
rs372015936
267 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA350209272
rs1238964559
268 P>S No ClinGen
gnomAD
CA350209266
rs989721357
269 V>L No ClinGen
TOPMed
gnomAD
CA63713190
rs989721357
269 V>M No ClinGen
TOPMed
gnomAD
rs368659245
CA2044892
270 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142061895
CA2044891
271 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1230611424
CA350209244
272 P>A No ClinGen
TOPMed
rs1355474482
CA350209243
272 P>H No ClinGen
TOPMed
gnomAD
CA350209239
rs1344560279
COSM3798479
COSM3798478
273 E>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
CA2044890
rs771602159
274 P>A No ClinGen
ExAC
gnomAD
CA2044889
rs749746878
275 I>M No ClinGen
ExAC
gnomAD
CA350208403
rs1559384711
278 V>A No ClinGen
Ensembl
rs773979592
CA2044863
279 W>* No ClinGen
ExAC
gnomAD
rs773979592
CA2044864
279 W>C No ClinGen
ExAC
gnomAD
rs1268108782
CA350208387
280 S>N No ClinGen
gnomAD
CA350208388
rs1268108782
280 S>T No ClinGen
gnomAD
CA2044862
rs1135815
282 H>Y No ClinGen
ExAC

No associated diseases with Q8N9W6

1 regional properties for Q8N9W6

Type Name Position InterPro Accession
conserved_site Glycosyl hydrolases family 1, N-terminal conserved site 48 - 62 IPR033132

Functions

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

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

3 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
mRNA 3'-UTR binding Binding to a 3' untranslated region of an mRNA molecule.
translation activator activity Any of a group of soluble proteins functioning in the activation of ribosome-mediated translation of mRNA into a polypeptide.

5 GO annotations of biological process

Name Definition
3'-UTR-mediated mRNA stabilization An mRNA stabilization process in which one or more RNA-binding proteins associate with the 3'-untranslated region (UTR) of an mRNA.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.
positive regulation of translational initiation Any process that activates or increases the frequency, rate or extent of translational initiation.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P42696 RBM34 RNA-binding protein 34 Homo sapiens (Human) PR
Q05CL8 Larp7 La-related protein 7 Mus musculus (Mouse) PR
Q8C854 Myef2 Myelin expression factor 2 Mus musculus (Mouse) PR
Q924M5 Boll Protein boule-like Mus musculus (Mouse) PR
Q5XI01 Larp7 La-related protein 7 Rattus norvegicus (Rat) PR
Q9S7N9 CID12 Polyadenylate-binding protein-interacting protein 12 Arabidopsis thaliana (Mouse-ear cress) PR
Q93ZV7 LA1 La protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q4KM14 trnau1apl tRNA selenocysteine 1-associated protein 1-like Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MQTDSLSPSP NPVSPVPLNN PTSAPRYGTV IPNRIFVGGI DFKTNESDLR KFFSQYGSVK
70 80 90 100 110 120
EVKIVNDRAG VSKGYGFVTF ETQEDAQKIL QEAEKLNYKD KKLNIGPAIR KQQVGIPRSS
130 140 150 160 170 180
IMPAAGTMYL TTSTGYPYTY HNGVAYFHTP EVTSVPPPWP SRSVCSSPVM VAQPIYQQPA
190 200 210 220 230 240
YHYQATTQYL PGQWQWSVPQ PSASSAPFLY LQPSEVIYQP VEIAQDGGCV PPPLSLMETS
250 260 270 280
VPEPYSDHGV QATYHQVYAP SAITMPAPVM QPEPIKTVWS IHY