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 Q86W54

Entry ID Method Resolution Chain Position Source
AF-Q86W54-F1 Predicted AlphaFoldDB

141 variants for Q86W54

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1452461610
CA361167127
2 A>V No ClinGen
TOPMed
CA361167113
rs1488201240
4 P>L No ClinGen
gnomAD
CA3434806
rs772689742
6 G>R No ClinGen
ExAC
gnomAD
CA128261327
rs746625944
7 W>* No ClinGen
TOPMed
gnomAD
CA361167095
rs746625944
7 W>C No ClinGen
TOPMed
gnomAD
rs1038573784
CA128261322
8 S>P No ClinGen
Ensembl
CA3434805
rs760057919
9 K>E No ClinGen
ExAC
gnomAD
CA361167088
rs760057919
9 K>Q No ClinGen
ExAC
gnomAD
rs939795210
CA128261317
10 A>S No ClinGen
TOPMed
gnomAD
CA361167081
rs939795210
10 A>T No ClinGen
TOPMed
gnomAD
CA361167077
rs1234186593
10 A>V No ClinGen
gnomAD
CA361167068
rs1581406126
12 S>A No ClinGen
Ensembl
rs774861309
CA3434804
13 G>V No ClinGen
ExAC
gnomAD
rs1339672353
CA361167055
14 S>C No ClinGen
gnomAD
rs1339672353
CA361167054
14 S>F No ClinGen
gnomAD
CA361167058
rs1397902673
14 S>P No ClinGen
gnomAD
rs1399381768
CA361167049
15 V>G No ClinGen
gnomAD
rs201105749
CA361167053
15 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs201105749
CA3434803
15 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA361167045
rs1171486205
16 C>Y No ClinGen
gnomAD
CA361167040
rs1165410700
17 L>F No ClinGen
TOPMed
CA361167034
rs1466176463
18 A>T No ClinGen
gnomAD
CA361167021
rs1473030477
20 D>Y No ClinGen
Ensembl
CA361167012
rs1430957586
21 Q>E No ClinGen
gnomAD
rs1300668060
CA361166999
23 R>W No ClinGen
TOPMed
CA361166989
rs1417329813
24 D>E No ClinGen
TOPMed
gnomAD
CA361166977
rs1168177779
26 I>T No ClinGen
TOPMed
gnomAD
rs62385295
CA128261267
28 S>F No ClinGen
TOPMed
rs749492678
CA3434802
28 S>T No ClinGen
ExAC
gnomAD
rs62385295
CA361166964
28 S>Y No ClinGen
TOPMed
CA128261263
rs997174973
29 Q>* No ClinGen
TOPMed
rs778032308
CA3434801
31 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1489326402
CA361166940
32 L>I No ClinGen
TOPMed
CA361166936
rs1195895027
32 L>Q No ClinGen
gnomAD
rs1194524886
CA361166914
35 Q>H No ClinGen
TOPMed
rs1261612571
CA804607327
36 L>R No ClinGen
TOPMed
rs1441225530
CA361166911
36 L>V No ClinGen
gnomAD
CA361166905
rs1255478548
37 R>K No ClinGen
TOPMed
gnomAD
rs1369409999
CA361166890
39 V>L No ClinGen
TOPMed
CA361166867
rs1235499008
41 V>I No ClinGen
gnomAD
rs1010640719
CA128260589
43 Q>* No ClinGen
gnomAD
CA3434794
rs758166212
CA3434795
44 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1030628263
CA128260579
45 E>* No ClinGen
TOPMed
gnomAD
CA361166842
rs1030628263
COSM3238028
COSM3826866
45 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs977480595
CA128260577
49 S>G No ClinGen
TOPMed
gnomAD
CA361166810
rs1216091297
49 S>T No ClinGen
TOPMed
gnomAD
TCGA novel 53 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3696936
COSM3696937
CA361166781
rs1352199315
53 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs767134559
CA128260540
54 Q>H No ClinGen
gnomAD
rs192704505
CA3434793
55 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1561993744
CA361166762
56 V>M No ClinGen
Ensembl
rs1384300682
CA361166740
59 K>Q No ClinGen
TOPMed
gnomAD
rs770045128
CA361166682
62 E>* No ClinGen
ExAC
gnomAD
rs770045128
CA3434783
62 E>K No ClinGen
ExAC
gnomAD
rs1280899506
CA361166647
65 A>S No ClinGen
gnomAD
CA361166641
rs1433916932
66 A>T No ClinGen
gnomAD
rs1304496375
CA361166626
67 H>R No ClinGen
TOPMed
CA128260312
rs867210031
68 A>T No ClinGen
TOPMed
CA3434781
rs541311172
71 K>N No ClinGen
1000Genomes
ExAC
gnomAD
rs970401726
CA128260307
71 K>T No ClinGen
Ensembl
rs1427037023
CA361166585
72 V>I No ClinGen
gnomAD
rs1321280653
CA361166568
74 L>M No ClinGen
TOPMed
CA128260305
rs745716164
75 A>V No ClinGen
gnomAD
CA128260303
rs949999953
78 E>G No ClinGen
TOPMed
gnomAD
CA361166519
rs1158640429
79 E>G No ClinGen
gnomAD
CA3434780
rs768685286
79 E>K No ClinGen
ExAC
rs895760140
CA128260282
80 K>N No ClinGen
TOPMed
CA361166467
rs1401325072
84 A>P No ClinGen
gnomAD
COSM3365855
CA361166447
COSM3365856
rs1189642714
86 G>R kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1012454922
CA128260258
87 E>K No ClinGen
Ensembl
CA128260243
rs959615179
88 V>I No ClinGen
Ensembl
CA3434778
rs758192079
90 V>L No ClinGen
ExAC
gnomAD
CA3434777
rs758192079
90 V>M No ClinGen
ExAC
gnomAD
rs1280827784
CA361166393
91 L>V No ClinGen
TOPMed
gnomAD
rs1006365526
CA128260236
99 K>E No ClinGen
TOPMed
CA3434776
rs369306056
99 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs886585824
CA128260230
104 K>E No ClinGen
Ensembl
rs200067820
CA361166225
105 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA361166228
rs1283794665
105 A>T No ClinGen
gnomAD
rs200067820
CA3434775
105 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA3434766
rs765454016
106 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA361166213
rs765454016
106 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1441404486
CA361166200
108 S>R No ClinGen
gnomAD
CA361166194
rs1263341226
109 V>L No ClinGen
gnomAD
rs1316393884
CA361166144
116 E>* No ClinGen
TOPMed
gnomAD
TCGA novel 118 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA361166124
rs1277998229
118 S>R No ClinGen
TOPMed
gnomAD
rs369759443
CA128260135
121 D>E No ClinGen
gnomAD
CA128260122
rs977851437
122 Q>R No ClinGen
Ensembl
rs985411152
CA128260120
127 C>G No ClinGen
TOPMed
gnomAD
CA361166065
rs985411152
127 C>S No ClinGen
TOPMed
gnomAD
CA361166058
rs1301666157
128 N>H No ClinGen
TOPMed
gnomAD
CA361166055
rs1214056455
128 N>S No ClinGen
TOPMed
gnomAD
rs1454973919
CA361165656
129 E>D No ClinGen
gnomAD
CA361165652
rs1375563765
130 I>F No ClinGen
gnomAD
CA3434743
rs772001572
131 E>G No ClinGen
ExAC
gnomAD
CA128257641
rs1022211411
131 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs956527936
CA128257632
133 H>Y No ClinGen
TOPMed
gnomAD
rs745839774
CA3434742
138 E>K No ClinGen
ExAC
gnomAD
CA3434741
rs774134135
140 I>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 140 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA128257627
rs774134135
140 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs370084329
CA3434740
141 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA361165570
rs1313479026
142 N>S No ClinGen
TOPMed
TCGA novel 145 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 148 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA128257603
rs1031482130
152 Q>E No ClinGen
TOPMed
rs1262714653
CA361165487
153 Q>P No ClinGen
gnomAD
rs138900287
CA3434737
154 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA361165474
rs1323931413
155 I>N No ClinGen
gnomAD
CA361165473
rs1323931413
155 I>T No ClinGen
gnomAD
rs1284994655
CA361165462
156 S>N No ClinGen
gnomAD
rs907022219
CA128257594
157 Q>P No ClinGen
TOPMed
gnomAD
rs755846563
CA3434735
161 I>F No ClinGen
ExAC
gnomAD
CA361165109
rs1379886229
165 H>P No ClinGen
TOPMed
gnomAD
rs1379886229
CA361165107
165 H>R No ClinGen
TOPMed
gnomAD
rs921441422
CA128257515
166 M>I No ClinGen
Ensembl
TCGA novel 166 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA128257509
rs1039277245
169 F>C No ClinGen
TOPMed
rs975907566
CA128257491
170 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1156798885
CA361165002
170 R>W No ClinGen
TOPMed
CA361164986
rs1414829340
171 I>F No ClinGen
TOPMed
CA361164945
rs1407826322
173 K>E No ClinGen
gnomAD
rs1177048619
CA361164919
174 Q>* No ClinGen
TOPMed
rs1409718346
CA361164905
174 Q>H No ClinGen
gnomAD
rs10900862
CA361164863
176 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754212440
CA3434728
179 M>I No ClinGen
ExAC
rs183526939
CA3434726
185 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs183526939
CA3434727
185 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA128257468
rs928726483
185 Q>R No ClinGen
TOPMed
CA128257463
rs540288040
187 H>R No ClinGen
gnomAD
rs369824194
CA361164696
194 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs369824194
CA128257450
194 R>G No ClinGen
TOPMed
gnomAD
CA3434724
rs767683626
194 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs963364133
CA128257427
197 R>C No ClinGen
TOPMed
gnomAD
rs1197410950
COSM3946885
CA361164671
197 R>H lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA361164670
rs1197410950
197 R>P No ClinGen
gnomAD
CA361164654
rs1561991400
199 H>Y No ClinGen
Ensembl
rs558345523
CA3434722
201 H>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1032033916
CA128257422
204 E>K No ClinGen
TOPMed
gnomAD
rs1248450595
CA361164592
206 K>L No ClinGen
TOPMed

No associated diseases with Q86W54

No regional properties for Q86W54

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q86W54

Functions

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

6 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.
male germ cell nucleus The nucleus of a male germ cell, a reproductive cell in males.
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.

2 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding Binding to an identical protein or proteins.

2 GO annotations of biological process

Name Definition
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.
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.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MATPLGWSKA GSGSVCLALD QLRDVIESQE ELIHQLRNVM VLQDENFVSK EEFQAVEKKL
70 80 90 100 110 120
VEEKAAHAKT KVLLAKEEEK LQFALGEVEV LSKQLEKEKL AFEKALSSVK SKVLQESSKK
130 140 150 160 170 180
DQLITKCNEI ESHIIKQEDI LNGKENEIKE LQQVISQQKQ IFRNHMSDFR IQKQQESYMA
190 200
QVLDQKHKKA SGTRQARSHQ HPREK