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 Q8N1B3

Entry ID Method Resolution Chain Position Source
AF-Q8N1B3-F1 Predicted AlphaFoldDB

179 variants for Q8N1B3

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000011420
rs1569536891
102 N>* Syndactyly-telecanthus-anogenital and renal malformations syndrome [ClinVar] Yes ClinVar
dbSNP
CA337228376
rs782010600
2 E>D No ClinGen
ExAC
rs782127205
CA337228379
2 E>G No ClinGen
ExAC
CA415091973
rs1461603323
3 A>V No ClinGen
TOPMed
CA415091960
rs1557027849
4 P>L No ClinGen
gnomAD
CA415091946
rs1557027846
5 E>G No ClinGen
gnomAD
rs200645137
RCV000869483
6 G>missing No ClinVar
dbSNP
CA415091919
rs868990609
7 G>R No ClinGen
Ensembl
CA415091902
rs1557027829
8 G>* No ClinGen
gnomAD
TCGA novel 9 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 9 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557027823
CA415091879
9 G>V No ClinGen
gnomAD
rs781939131
CA337228324
10 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA337228316
rs782235940
11 P>S No ClinGen
ExAC
gnomAD
rs782235940
CA415091858
11 P>T No ClinGen
ExAC
gnomAD
rs1557027804
CA415091841
12 A>T No ClinGen
gnomAD
rs1557027803
CA415091830
12 A>V No ClinGen
gnomAD
rs1557027796
CA415091819
13 A>E No ClinGen
gnomAD
rs782392509
CA337228304
13 A>S No ClinGen
ExAC
rs1557027790
CA415091805
14 R>Q No ClinGen
gnomAD
CA415091790
rs1557027789
15 G>A No ClinGen
gnomAD
CA415091792
rs1557027789
15 G>V No ClinGen
gnomAD
rs782278351
CA415091771
16 P>L No ClinGen
ExAC
gnomAD
CA337228302
rs782278351
16 P>Q No ClinGen
ExAC
gnomAD
CA337228296
rs200171156
17 E>G No ClinGen
gnomAD
CA337228277
rs782681960
19 Q>E No ClinGen
ExAC
rs1557027772
CA415091722
19 Q>H No ClinGen
gnomAD
CA415091704
rs1446347435
20 P>L No ClinGen
TOPMed
gnomAD
rs1446347435
CA415091708
20 P>Q No ClinGen
TOPMed
gnomAD
rs1557027764
CA415091712
20 P>S No ClinGen
gnomAD
rs1557027764
CA415091717
20 P>T No ClinGen
gnomAD
rs782316470
CA337228272
21 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA415091696
rs1557027757
21 A>S No ClinGen
gnomAD
rs1557027757
CA415091701
21 A>T No ClinGen
gnomAD
rs782316470
CA415091693
21 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA415091673
rs1557027741
22 P>H No ClinGen
gnomAD
rs1557027735
CA415091670
23 E>* No ClinGen
gnomAD
CA415091660
rs1557027729
24 A>D No ClinGen
gnomAD
CA415091662
rs1557027732
24 A>S No ClinGen
gnomAD
CA415091652
rs1235293786
25 R>S No ClinGen
TOPMed
gnomAD
rs1557027720
CA415091649
26 V>E No ClinGen
gnomAD
CA337228263
rs782611841
26 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA415091619
rs1209434931
28 F>Y No ClinGen
TOPMed
rs1284916925
CA415091602
29 R>Q No ClinGen
TOPMed
rs1603165965
CA415091594
30 V>M No ClinGen
Ensembl
rs1557027711
CA415091580
31 A>T No ClinGen
gnomAD
TCGA novel 31 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557027708
CA415091553
32 R>S No ClinGen
gnomAD
rs1448636185
CA415091504
35 M>L No ClinGen
TOPMed
gnomAD
CA415091501
rs1185167911
35 M>T No ClinGen
TOPMed
CA337227250
rs781881866
40 K>R No ClinGen
Ensembl
CA10548480
rs537796562
43 M>L No ClinGen
ExAC
gnomAD
CA415090708
rs1400512637
44 R>L No ClinGen
TOPMed
gnomAD
CA415090712
rs1400512637
44 R>Q No ClinGen
TOPMed
gnomAD
rs781948889
CA10548479
44 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 46 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415090661
rs1557027054
48 I>V No ClinGen
gnomAD
CA337227228
rs982875664
49 A>V No ClinGen
Ensembl
TCGA novel 54 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 56 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10548475
rs782646629
56 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1557027043
CA415090509
58 F>L No ClinGen
gnomAD
CA10548473
rs782293018
60 C>G No ClinGen
ExAC
gnomAD
TCGA novel 60 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1603162377
CA415090487
61 E>D No ClinGen
Ensembl
rs149734965
RCV000894388
CA10548471
61 E>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1557027031
CA415090476
63 N>S No ClinGen
gnomAD
CA10548470
rs376670332
64 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415090459
rs1603162343
66 A>P No ClinGen
Ensembl
CA10548467
rs781987078
RCV000996038
67 Y>C No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1023545906
CA337227142
67 Y>H No ClinGen
Ensembl
TCGA novel 72 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415090347
rs1557027008
75 S>A No ClinGen
gnomAD
rs782228548
CA10548465
75 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs781801497
CA10548464
78 Y>D No ClinGen
ExAC
gnomAD
TCGA novel 80 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781921854
CA10548463
81 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1355426525
CA415090245
83 V>A No ClinGen
TOPMed
gnomAD
CA10548461
rs781977080
86 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs782390185
CA10548460
87 H>P No ClinGen
ExAC
gnomAD
CA415090183
rs1557026982
87 H>Q No ClinGen
gnomAD
TCGA novel 89 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557026970
CA415090168
89 R>Q No ClinGen
gnomAD
CA415090171
rs1442543413
89 R>W No ClinGen
TOPMed
gnomAD
rs782147876
CA10548459
90 T>A No ClinGen
ExAC
gnomAD
rs1188961308
CA415090148
91 R>C No ClinGen
TOPMed
CA415090123
rs1557026955
93 I>V No ClinGen
gnomAD
CA10548458
rs782031283
95 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 98 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10548457
rs188044074
98 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA415089942
rs1557026614
99 R>S No ClinGen
gnomAD
CA415089903
rs1557026607
102 N>D No ClinGen
gnomAD
TCGA novel 105 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10548431
rs782206940
105 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782608728
CA10548430
107 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA415089817
rs1397964100
109 E>Q No ClinGen
TOPMed
rs782498226
CA10548429
112 S>F No ClinGen
ExAC
gnomAD
rs201043377
CA10548428
113 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000872593
rs150562029
RCV002227501
CA10548427
113 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782558422
CA10548426
115 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1273846093
CA415089710
117 L>F No ClinGen
TOPMed
gnomAD
rs918989098
CA337226278
118 R>G No ClinGen
gnomAD
rs918989098
CA415089697
118 R>W No ClinGen
gnomAD
rs782469736
CA10548423
121 I>T No ClinGen
ExAC
gnomAD
CA415089655
rs1345170998
121 I>V No ClinGen
TOPMed
gnomAD
CA337226266
rs981165355
122 V>A No ClinGen
Ensembl
rs1557026564
CA415089644
122 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10548422
rs781843718
128 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs183758563
CA10548421
129 L>R No ClinGen
1000Genomes
ExAC
rs1199674666
CA415089502
132 L>V No ClinGen
TOPMed
CA10548420
rs781799914
133 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1240480716
CA415089488
133 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA415089402
rs1557026547
139 Q>R No ClinGen
gnomAD
rs1557026545
CA415089377
141 P>A No ClinGen
gnomAD
TCGA novel 141 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374423745
CA10548419
142 H>Y No ClinGen
ESP
ExAC
gnomAD
TCGA novel 143 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415088623
rs1557026107
144 Y>H No ClinGen
gnomAD
CA415088352
rs1557026099
156 L>M No ClinGen
gnomAD
rs781795178
CA10548401
158 R>C No ClinGen
ExAC
gnomAD
rs1557026096
CA415088305
158 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10548400
rs782734343
163 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA415088193
rs782734343
163 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1393228949
CA415088196
163 R>W No ClinGen
TOPMed
CA337225364
rs372939037
164 T>S No ClinGen
ESP
TOPMed
gnomAD
CA10548396
rs370810560
168 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10548397
rs370810560
168 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA415088093
rs1178567203
170 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1557026076
CA415088074
171 W>* No ClinGen
gnomAD
CA337225336
rs930788533
175 R>Q No ClinGen
Ensembl
CA10548394
rs782309279
175 R>W No ClinGen
ExAC
gnomAD
TCGA novel 176 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781948832
CA10548392
177 S>T No ClinGen
ExAC
gnomAD
rs1557026069
RCV000522853
CA415087938
180 G>R No ClinGen
ClinVar
Ensembl
dbSNP
rs782408272
CA10548388
181 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs782408272
CA10548389
181 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10548387
rs782298309
182 L>V No ClinGen
ExAC
gnomAD
CA415087872
rs1557026054
183 C>* No ClinGen
gnomAD
CA337225278
VAR_034642
rs17850173
183 C>S No ClinGen
UniProt
Ensembl
dbSNP
TCGA novel 185 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415087843
rs1557026048
185 R>H No ClinGen
gnomAD
CA337225271
rs191902079
185 R>S No ClinGen
1000Genomes
CA415087826
rs1557026045
186 F>Y No ClinGen
gnomAD
rs1603157216
CA415087812
187 Q>K No ClinGen
Ensembl
TCGA novel 188 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 189 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415087707
rs1557026041
191 I>V No ClinGen
gnomAD
rs1432027234
CA415087689
192 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1557026036
CA415087663
193 V>L No ClinGen
gnomAD
CA415087668
rs1557026036
193 V>M No ClinGen
gnomAD
CA415087644
rs1427113628
194 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10548383
rs782618270
195 V>M No ClinGen
ExAC
gnomAD
CA415087578
rs1463781917
197 Y>C No ClinGen
TOPMed
gnomAD
CA415087580
rs1463781917
197 Y>S No ClinGen
TOPMed
gnomAD
rs1557026021
CA415087498
202 V>A No ClinGen
gnomAD
CA10548381
rs781880341
202 V>F No ClinGen
ExAC
gnomAD
rs1057521251
RCV000434465
CA16609136
206 E>* No ClinGen
ClinVar
Ensembl
dbSNP
CA415087375
rs1557026001
209 A>S No ClinGen
gnomAD
CA415087378
rs1557026001
209 A>T No ClinGen
gnomAD
CA10548377
rs782742456
210 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs146203325
CA337225224
212 E>K No ClinGen
ESP
TOPMed
TCGA novel 213 A>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10548374
rs782770419
216 P>L No ClinGen
ExAC
gnomAD
TCGA novel 216 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001200550
rs2090998416
219 Q>* No ClinVar
dbSNP
rs782038624
CA10548372
219 Q>P No ClinGen
ExAC
gnomAD
CA415085887
rs1557025069
221 F>L No ClinGen
gnomAD
rs1557025062
CA415085787
224 D>N No ClinGen
gnomAD
CA337223689
rs1025698292
228 P>A No ClinGen
TOPMed
rs782739507
CA10548358
232 N>K No ClinGen
ExAC
TCGA novel 233 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415085461
rs782481531
237 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA10548357
rs782481531
237 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs112616337
CA337223669
238 I>M No ClinGen
Ensembl
rs141657773
CA10548356
RCV000870882
242 T>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA415085382
rs1557025046
243 M>V No ClinGen
gnomAD
rs1557025044
CA415085363
244 D>G No ClinGen
gnomAD
rs868934018
CA415085337
246 E>G No ClinGen
TOPMed
rs782304286
CA10548355
246 E>Q No ClinGen
ExAC
TOPMed
gnomAD

1 associated diseases with Q8N1B3

[MIM: 300707]: Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR)

A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. {ECO:0000269|PubMed:18297069}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. {ECO:0000269|PubMed:18297069}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q8N1B3

Type Name Position InterPro Accession
domain Cyclin, N-terminal 29 - 136 IPR006671
domain Cyclin-like domain 32 - 130 IPR013763-1
domain Cyclin-like domain 150 - 239 IPR013763-2

Functions

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

2 GO annotations of cellular component

Name Definition
cyclin-dependent protein kinase holoenzyme complex Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner.
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.

1 GO annotations of molecular function

Name Definition
cyclin-dependent protein serine/threonine kinase regulator activity Modulates the activity of a cyclin-dependent protein serine/threonine kinase, enzymes of the protein kinase family that are regulated through association with cyclins and other proteins.

2 GO annotations of biological process

Name Definition
regulation of cell cycle G2/M phase transition Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the cell cycle.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6T8E9 CCNT1 Cyclin-T1 Bos taurus (Bovine) SS
Q8HXN7 CCNT1 Cyclin-T1 Pan troglodytes (Chimpanzee) SS
P24863 CCNC Cyclin-C Homo sapiens (Human) PR
P51946 CCNH Cyclin-H Homo sapiens (Human) PR
O60563 CCNT1 Cyclin-T1 Homo sapiens (Human) EV
O75909 CCNK Cyclin-K Homo sapiens (Human) PR
O88874 Ccnk Cyclin-K Mus musculus (Mouse) PR
Q9QWV9 Ccnt1 Cyclin-T1 Mus musculus (Mouse) SS
Q6Z7H3 CYCT1_2 Cyclin-T1-2 Oryza sativa subsp japonica (Rice) PR
Q2RAC5 CYCT1-3 Cyclin-T1-3 Oryza sativa subsp japonica (Rice) PR
Q2QQS5 CYCT1-1 Cyclin-T1-4 Oryza sativa subsp japonica (Rice) PR
Q8GYM6 CYCT1-4 Cyclin-T1-4 Arabidopsis thaliana (Mouse-ear cress) PR
Q503D6 ccnq Cyclin-Q Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEAPEGGGGG PAARGPEGQP APEARVHFRV ARFIMEAGVK LGMRSIPIAT ACTIYHKFFC
70 80 90 100 110 120
ETNLDAYDPY LIAMSSIYLA GKVEEQHLRT RDIINVSNRY FNPSGEPLEL DSRFWELRDS
130 140 150 160 170 180
IVQCELLMLR VLRFQVSFQH PHKYLLHYLV SLQNWLNRHS WQRTPVAVTA WALLRDSYHG
190 200 210 220 230 240
ALCLRFQAQH IAVAVLYLAL QVYGVEVPAE VEAEKPWWQV FNDDLTKPII DNIVSDLIQI
YTMDTEIP