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 Q8TBB0

Entry ID Method Resolution Chain Position Source
AF-Q8TBB0-F1 Predicted AlphaFoldDB

182 variants for Q8TBB0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1365106903
CA357275833
2 V>M No ClinGen
gnomAD
TCGA novel 4 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 5 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140233330
CA99780099
5 C>W No ClinGen
ESP
CA99780098
rs537952691
5 C>Y No ClinGen
Ensembl
CA2964630
rs746616242
7 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs756898771
CA2964631
8 I>V No ClinGen
ExAC
gnomAD
CA357275878
rs1402428907
9 G>R No ClinGen
gnomAD
rs780729665
CA2964632
10 C>R No ClinGen
ExAC
gnomAD
CA2964633
rs745427006
10 C>Y No ClinGen
ExAC
gnomAD
CA2964634
rs542042267
12 S>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1240791873
CA357275903
13 R>C No ClinGen
gnomAD
CA2964635
rs779910070
13 R>H No ClinGen
ExAC
TOPMed
gnomAD
COSM1057545
CA357275939
rs1406454375
18 S>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 19 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 20 L>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256624696
CA357275967
22 G>E No ClinGen
gnomAD
rs1463624026
CA357275976
24 T>A No ClinGen
TOPMed
CA357275980
rs1201947856
24 T>I No ClinGen
gnomAD
CA357275998
rs771120306
27 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs771120306
CA2964640
27 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA2964659
rs759822540
29 P>S No ClinGen
ExAC
gnomAD
rs769951434
CA2964661
36 R>K No ClinGen
ExAC
gnomAD
rs775749395
CA2964662
36 R>S No ClinGen
ExAC
gnomAD
CA2964664
rs764754857
38 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs912021529
CA357276265
38 W>G No ClinGen
TOPMed
gnomAD
CA99781165
rs912021529
38 W>R No ClinGen
TOPMed
gnomAD
rs1403160975
CA357276280
39 V>I No ClinGen
gnomAD
rs751948588
CA2964665
COSM1540833
41 A>T lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA357276307
rs1560540109
41 A>V No ClinGen
Ensembl
rs1019822489
CA99781205
42 M>K No ClinGen
Ensembl
rs1216494773
CA357276331
43 K>R No ClinGen
gnomAD
rs750004487
CA2964668
46 D>E No ClinGen
ExAC
gnomAD
TCGA novel 46 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1294570286
CA357276387
48 N>D No ClinGen
TOPMed
gnomAD
rs201627689
CA2964671
48 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754908166
CA2964672
49 A>V No ClinGen
ExAC
gnomAD
rs34942800
CA2964676
51 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34942800
CA2964675
51 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1187843603
CA357276437
52 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 52 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357276461
rs1251193081
54 E>A No ClinGen
gnomAD
rs969129902
CA99781288
55 P>H No ClinGen
Ensembl
rs1165461746
CA357276509
58 G>R No ClinGen
gnomAD
rs746043221
CA2964679
59 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2964680
rs770187364
60 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs370307359
CA2964682
63 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357276578
rs1451922703
64 R>K No ClinGen
TOPMed
CA99781321
rs201504507
66 F>C No ClinGen
1000Genomes
rs762413697
CA2964685
67 K>E No ClinGen
ExAC
gnomAD
rs762413697
CA357276613
67 K>Q No ClinGen
ExAC
gnomAD
CA99781330
rs747187698
67 K>R No ClinGen
Ensembl
CA2964686
rs374054120
68 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2964687
rs773676952
69 T>I No ClinGen
ExAC
gnomAD
CA357276659
rs1357958736
70 D>G No ClinGen
gnomAD
rs1290405882
CA357276695
72 D>G No ClinGen
gnomAD
rs1437544078
CA357276690
72 D>Y No ClinGen
Ensembl
rs1217577854
CA357276716
73 R>S No ClinGen
gnomAD
rs1239984611
CA357276727
74 S>N No ClinGen
gnomAD
rs1485446441
CA357276735
75 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA357276777
rs1182262976
78 I>T No ClinGen
gnomAD
CA357276838
rs1427880930
83 G>V No ClinGen
TOPMed
rs1162774948
CA357276853
84 V>G No ClinGen
gnomAD
CA99781367
rs1032001251
85 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA99781369
rs550412417
86 P>L No ClinGen
Ensembl
rs1185337681
CA357276880
87 S>A No ClinGen
gnomAD
CA2964692
rs184735609
88 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357276900
rs1428532164
89 F>L No ClinGen
gnomAD
rs143920365
CA357276927
90 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1485344051
CA357276936
91 S>C No ClinGen
TOPMed
CA2964695
rs146466349
92 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA99781426
rs992609176
93 Y>S No ClinGen
Ensembl
CA2964696
rs764821469
94 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs758253328
CA2964733
97 G>R No ClinGen
ExAC
gnomAD
CA357277097
rs1171854016
100 E>K No ClinGen
gnomAD
rs374122301
CA99785158
101 K>E No ClinGen
ESP
TOPMed
CA99785165
rs912843175
103 H>D No ClinGen
TOPMed
gnomAD
CA357277120
rs1399009448
103 H>P No ClinGen
TOPMed
gnomAD
CA357277121
rs1399009448
103 H>R No ClinGen
TOPMed
gnomAD
rs764156773
CA2964735
104 C>S No ClinGen
ExAC
gnomAD
CA2964736
rs751546496
105 R>K No ClinGen
ExAC
CA2964737
rs757059452
107 N>T No ClinGen
ExAC
rs1334718216 107 N>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1405006310
CA357277154
108 F>L No ClinGen
gnomAD
rs754083087
CA2964739
109 T>P No ClinGen
ExAC
gnomAD
rs778847279
CA2964741
110 L>H No ClinGen
ExAC
CA2964742
rs748329307
111 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1208295962
CA357277176
111 K>N No ClinGen
TOPMed
gnomAD
rs772052431
CA2964743
111 K>R No ClinGen
ExAC
rs1272180011
CA357277181
112 T>I No ClinGen
gnomAD
CA2964744
rs778198702
112 T>P No ClinGen
ExAC
gnomAD
CA2964747
rs771250612
113 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs771250612
CA2964746
113 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA99785270
rs940257830
116 T>A No ClinGen
TOPMed
CA357277202
rs774856709
COSM1540832
116 T>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774856709
CA2964750
116 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA2964751
rs139083562
118 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA99785283
rs1037011784
118 Y>C No ClinGen
TOPMed
gnomAD
rs536379368
CA2964752
119 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2964753
rs751493402
121 H>L No ClinGen
ExAC
gnomAD
CA357277240
rs761881856
122 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA2964754
rs761881856
122 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1295832732
CA357277280
128 C>F No ClinGen
TOPMed
gnomAD
CA357277276
rs755148803
128 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs755148803
CA2964757
128 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1295832732
CA357277278
128 C>Y No ClinGen
TOPMed
gnomAD
rs149347484
CA2964758
129 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2964759
rs752873556
130 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs777858301
CA2964762
133 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA2964763
rs76333976
135 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368339156
CA2964764
138 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357277347
rs1368752856
138 F>V No ClinGen
TOPMed
CA2964788
rs144642753
140 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144642753
CA357276022
140 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2964789
rs201273807
141 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773149389
CA2964790
141 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA2964792
rs148475724
145 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1252127416
CA357276070
147 S>C No ClinGen
gnomAD
rs763227582
CA2964794
148 P>L No ClinGen
ExAC
gnomAD
CA2964793
rs776343494
148 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA357276083
rs1319822320
149 K>E No ClinGen
TOPMed
rs1429513255
CA357276103
151 L>P No ClinGen
gnomAD
CA357276117
rs1393850287
153 H>R No ClinGen
TOPMed
CA357276126
rs1560546272
154 K>E No ClinGen
Ensembl
CA2964795
rs764370104
154 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1358301665
CA357276185
158 V>M No ClinGen
gnomAD
TCGA novel 160 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2964797
rs141771853
160 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199945417
CA2964800
161 E>A No ClinGen
1000Genomes
ExAC
gnomAD
rs372598193
CA2964799
161 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780452111
CA357276283
165 T>A No ClinGen
ExAC
gnomAD
CA2964802
rs749682280
165 T>K No ClinGen
ExAC
gnomAD
rs780452111
CA2964801
165 T>S No ClinGen
ExAC
gnomAD
CA357276317
rs1301028290
167 E>A No ClinGen
gnomAD
rs773735442
CA2964805
170 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs773735442
CA99748828
170 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375955767
CA2964804
170 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357276371
rs1479393466
171 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA357276372
rs1479393466
171 N>T No ClinGen
gnomAD
rs961779808
CA99748833
173 L>S No ClinGen
TOPMed
rs369772476
CA2964806
175 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357276421
rs1268913945
175 R>Q No ClinGen
gnomAD
rs1252258694
CA357276438
176 E>G No ClinGen
gnomAD
CA2964808
rs527900695
178 R>C No ClinGen
ExAC
gnomAD
rs770836249
CA2964809
178 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2964810
rs776485319
180 Q>R No ClinGen
ExAC
gnomAD
CA357276530
rs867021462
182 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA99748862
rs867021462
182 S>L No ClinGen
TOPMed
rs759261973
CA2964811
182 S>T No ClinGen
ExAC
gnomAD
rs150566447
CA2964812
183 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1303853321
CA357276581
185 K>N No ClinGen
TOPMed
gnomAD
CA99748872
rs969100352
186 T>A No ClinGen
TOPMed
CA2964814
rs762054035
186 T>I No ClinGen
ExAC
gnomAD
rs1312980838
CA357276596
187 I>V No ClinGen
TOPMed
rs1403413814
CA357276609
188 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs767553849
CA2964815
189 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 190 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1363147609
CA357276636
190 L>V No ClinGen
gnomAD
CA2964816
rs750526561
192 D>H No ClinGen
ExAC
gnomAD
CA2964817
rs761238889
194 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA357276725
rs1490695850
196 I>M No ClinGen
gnomAD
CA99748882
rs928080935
196 I>V No ClinGen
TOPMed
rs546553324
CA99748883
199 E>A No ClinGen
1000Genomes
CA2964819
rs148026447
201 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140891870
CA2964820
202 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357276813
rs1180329123
202 N>T No ClinGen
Ensembl
CA2964821
rs779448314
203 R>I No ClinGen
ExAC
TOPMed
gnomAD
CA2964822
rs752362349
206 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA2964823
rs180792819
207 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1250325732
CA357276920
210 D>N No ClinGen
TOPMed
CA357276944
rs777327335
211 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA2964824
rs777327335
211 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2964826
rs770481500
212 C>W No ClinGen
ExAC
gnomAD
rs1208385138
CA357276976
213 Q>R No ClinGen
TOPMed
CA99748906
rs766724371
214 E>* No ClinGen
Ensembl
CA2964827
rs780935900
215 S>R No ClinGen
ExAC
gnomAD
CA357277015
rs1433094699
216 I>T No ClinGen
gnomAD
CA2964828
rs745830472
217 E>G No ClinGen
ExAC
gnomAD
rs946767051
CA99748925
218 Q>R No ClinGen
TOPMed
rs1560546655
CA357277040
219 D>E No ClinGen
Ensembl
rs1419972445
CA357277033
219 D>N No ClinGen
gnomAD
CA2964829
rs369485771
220 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q8TBB0

1 regional properties for Q8TBB0

Type Name Position InterPro Accession
domain THAP-type zinc finger 1 - 95 IPR006612

Functions

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

1 GO annotations of cellular component

Name Definition
microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.

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).
metal ion binding Binding to a metal ion.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MVKCCSAIGC ASRCLPNSKL KGLTFHVFPT DENIKRKWVL AMKRLDVNAA GIWEPKKGDV
70 80 90 100 110 120
LCSRHFKKTD FDRSAPNIKL KPGVIPSIFD SPYHLQGKRE KLHCRKNFTL KTVPATNYNH
130 140 150 160 170 180
HLVGASSCIE EFQSQFIFEH SYSVMDSPKK LKHKLDHVIG ELEDTKESLR NVLDREKRFQ
190 200 210 220
KSLRKTIREL KDECLISQET ANRLDTFCWD CCQESIEQDY IS