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

2 structures for Q96C74

Entry ID Method Resolution Chain Position Source
8J07 EM 410 A Q/R/q/r 1-230 PDB
AF-Q96C74-F1 Predicted AlphaFoldDB

209 variants for Q96C74

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA359186952
rs1359636885
2 P>Q No ClinGen
gnomAD
CA359186957
rs1252770395
3 L>F No ClinGen
gnomAD
CA359186973
rs1395963660
5 D>E No ClinGen
gnomAD
rs1195710577
CA359186968
5 D>N No ClinGen
gnomAD
CA359186979
rs1427992436
6 T>S No ClinGen
gnomAD
rs1168500113
CA359187001
9 C>Y No ClinGen
gnomAD
TCGA novel 11 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3199592
rs761766011
11 Q>H No ClinGen
ExAC
gnomAD
rs768427973
CA3199591
11 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs768427973
CA3199590
11 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1163898801
CA359187020
12 Q>P No ClinGen
gnomAD
CA359187030
rs1291889383
13 I>M No ClinGen
TOPMed
rs772892187
CA3199594
13 I>N No ClinGen
ExAC
rs1392042947
CA359187047
16 P>A No ClinGen
gnomAD
rs762533473
CA3199595
16 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA359187050
rs762533473
16 P>R No ClinGen
ExAC
gnomAD
rs766194872
CA3199596
17 P>L No ClinGen
ExAC
gnomAD
CA113906761
rs745877124
17 P>S No ClinGen
Ensembl
rs1049987928
CA113906772
18 E>G No ClinGen
TOPMed
rs145970601
CA3199597
18 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3199598
rs756441351
20 P>R No ClinGen
ExAC
gnomAD
CA359187078
rs764462958
21 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1451360307
CA359187087
23 L>V No ClinGen
gnomAD
CA3199602
rs575064353
29 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA3199601
rs555236708
29 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1427981422
CA359187143
31 I>T No ClinGen
TOPMed
rs1159372152
CA359187148
32 R>C No ClinGen
TOPMed
rs746003458
CA3199603
34 Q>E No ClinGen
ExAC
gnomAD
rs1333113118
CA359187165
35 P>T No ClinGen
gnomAD
CA3199604
rs368788751
36 A>G No ClinGen
ESP
ExAC
gnomAD
TCGA novel 38 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1205718057
CA359187198
40 R>L No ClinGen
TOPMed
gnomAD
rs1205718057
CA359187197
40 R>P No ClinGen
TOPMed
gnomAD
rs780256171
CA3199605
40 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA3199606
rs371287142
41 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1029984514
CA113906779
41 W>R No ClinGen
Ensembl
CA3199607
rs768353174
42 S>P No ClinGen
ExAC
gnomAD
CA3199609
rs367925100
43 A>V No ClinGen
ESP
TOPMed
gnomAD
CA3199611
rs747868004
44 G>V No ClinGen
ExAC
gnomAD
CA3199642
rs41280363
45 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3199641
rs763405654
45 Y>D No ClinGen
ExAC
gnomAD
rs1268856674
CA359187252
47 S>* No ClinGen
Ensembl
TCGA novel 47 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA359187258
rs1285105848
COSM180640
48 A>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1417199572
CA359187256
48 A>P No ClinGen
TOPMed
gnomAD
CA359187269
rs1309412539
50 S>* No ClinGen
gnomAD
CA359187271
rs1309412539
50 S>L No ClinGen
gnomAD
CA3199648
rs375461849
52 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375461849
CA3199649
52 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA359187290
rs1486589153
53 D>E No ClinGen
gnomAD
rs34537313
CA3199651
55 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA113908649
rs959484664
55 L>P No ClinGen
Ensembl
CA359187303
rs1479532813
56 P>S No ClinGen
TOPMed
gnomAD
rs1479532813
CA359187301
56 P>T No ClinGen
TOPMed
gnomAD
rs1220600626
CA359187319
58 K>N No ClinGen
TOPMed
CA3199653
rs771414987
58 K>R No ClinGen
ExAC
gnomAD
rs775218473
CA3199654
59 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA113908662
rs992646424
59 D>G No ClinGen
gnomAD
TCGA novel 59 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs917789209
CA113908669
60 R>K No ClinGen
Ensembl
CA3199655
rs746611148
62 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs1354543661
CA359187353
63 M>I No ClinGen
gnomAD
rs770171478
CA359187349
63 M>L No ClinGen
ExAC
gnomAD
rs770171478
CA3199656
63 M>V No ClinGen
ExAC
gnomAD
rs773610285
CA3199657
64 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs773610285
CA113908674
64 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA3199659
rs763285700
65 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1561168812
CA359187365
66 A>T No ClinGen
Ensembl
CA3199661
rs754049057
67 T>P No ClinGen
ExAC
CA3199662
rs754049057
67 T>S No ClinGen
ExAC
CA3199663
rs767438939
68 Q>* No ClinGen
ExAC
gnomAD
rs767438939
CA3199664
68 Q>E No ClinGen
ExAC
gnomAD
CA3199665
rs202000864
71 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs200293869
CA113908689
71 D>H No ClinGen
Ensembl
CA3199666
rs764389098
72 T>R No ClinGen
ExAC
gnomAD
rs1273422627
CA359187409
73 G>D No ClinGen
TOPMed
COSM1725936
rs1273422627
CA359187411
73 G>V liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1272185709
CA359187421
75 T>I No ClinGen
TOPMed
gnomAD
rs1272185709
CA359187420
75 T>N No ClinGen
TOPMed
gnomAD
CA359187432
rs1464535741
77 G>R No ClinGen
TOPMed
TCGA novel 79 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368315797
CA3199669
81 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA359187486
rs1467711139
85 Q>* No ClinGen
gnomAD
CA359187485
rs1467711139
85 Q>E No ClinGen
gnomAD
CA3199703
rs548833734
90 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs772513245
CA3199702
90 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs760840568
CA3199704
COSM221485
91 Y>C haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA359187538
rs1294910319
91 Y>H No ClinGen
gnomAD
CA3199706
rs777012072
92 V>M No ClinGen
ExAC
gnomAD
CA3199707
rs761899366
95 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs765465053
CA359187573
96 D>G No ClinGen
ExAC
gnomAD
rs765465053
CA3199708
96 D>V No ClinGen
ExAC
gnomAD
CA359187578
rs1216775071
97 L>F No ClinGen
gnomAD
CA3199710
rs200409027
100 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1579645352
CA359187618
102 K>R No ClinGen
Ensembl
VAR_035442
rs35573613
CA113909429
103 N>K No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
CA3199711
rs762799656
103 N>T No ClinGen
ExAC
gnomAD
CA359187633
CA3199712
rs766373994
104 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs373418882
CA3199713
105 C>Y No ClinGen
ESP
ExAC
gnomAD
CA3199715
rs145309137
107 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754500671
CA3199714
107 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA359187664
rs1374707768
109 E>D No ClinGen
gnomAD
rs1039457216
CA113909437
110 K>E No ClinGen
TOPMed
CA113909443
rs990160865
112 K>E No ClinGen
Ensembl
CA3199718
rs777460888
112 K>N No ClinGen
ExAC
gnomAD
CA359187687
rs1301242530
113 A>T No ClinGen
Ensembl
rs2303986
CA3199719
VAR_057789
COSM1264485
113 A>V oesophagus [Cosmic] No ClinGen
cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3199721
rs780718485
114 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA3199722
rs749195335
117 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA359187718
rs1271641999
118 D>Y No ClinGen
gnomAD
rs986153912
CA113909465
119 P>A No ClinGen
Ensembl
TCGA novel 119 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373371887
CA3199723
120 C>R No ClinGen
ESP
ExAC
gnomAD
CA113909469
rs911892479
122 N>S No ClinGen
TOPMed
CA359187763
rs1485601585
124 I>T No ClinGen
gnomAD
COSM735135
CA3199726
rs539771885
126 W>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3199727
rs769971378
128 N>T No ClinGen
ExAC
gnomAD
CA113909476
rs199968007
131 A>V No ClinGen
TOPMed
gnomAD
CA113909479
rs1002582222
132 L>F No ClinGen
TOPMed
rs552945189
CA3199729
132 L>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1441785532
CA359187824
133 G>A No ClinGen
gnomAD
CA3199730
rs766107659
136 M>I No ClinGen
ExAC
gnomAD
CA113909488
rs919116192
138 G>D No ClinGen
TOPMed
gnomAD
rs1394581689
CA359187864
139 G>E No ClinGen
gnomAD
rs1394581689
COSM326384
CA359187866
139 G>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1411682327
CA359187883
140 S>F No ClinGen
TOPMed
rs554489516
CA113915095
140 S>T No ClinGen
TOPMed
CA3199753
rs774173745
142 N>K No ClinGen
ExAC
gnomAD
rs759304695
CA3199754
143 T>A No ClinGen
ExAC
gnomAD
rs1400872643
CA359187901
143 T>S No ClinGen
gnomAD
CA3199756
rs775431185
144 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA359187924
rs1561176400
147 H>P No ClinGen
Ensembl
CA3199760
rs753462592
149 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA3199761
rs764959221
150 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3199763
rs200043905
153 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA359187973
rs183576252
154 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1425768817
CA359187977
155 D>A No ClinGen
gnomAD
CA359187974
rs1190893461
155 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1190893461
CA359187976
155 D>Y No ClinGen
gnomAD
rs17851209
CA3199769
156 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs17851209
CA113915161
VAR_035443
156 P>R No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA3199768
rs536955051
156 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3199767
rs536955051
156 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745666898
CA3199771
157 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA3199774
rs760619690
159 G>E No ClinGen
ExAC
gnomAD
rs775309425
CA3199773
159 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775309425
CA359187998
159 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3199775
rs763903235
160 P>T No ClinGen
ExAC
gnomAD
rs761391233
CA3199777
161 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs761391233
CA359188007
161 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3199779
rs750033423
162 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3199780
rs755410588
162 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs755410588
CA3199782
162 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA3199781
rs755410588
162 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs924000792
CA113915208
166 K>E No ClinGen
TOPMed
gnomAD
CA3199784
rs778119880
166 K>R No ClinGen
ExAC
gnomAD
rs147533644
CA3199785
167 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3199788
rs746039910
168 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA359188046
rs1415427324
168 F>V No ClinGen
gnomAD
CA359188066
rs368430479
171 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368430479
CA3199790
171 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1432034
rs145787281
CA3199791
173 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs148979217
CA3199792
173 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776702691
CA3199793
174 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs776702691
CA359188086
174 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA3199794
rs761409883
177 R>K No ClinGen
ExAC
gnomAD
rs1385037812
CA359188111
178 L>* No ClinGen
TOPMed
rs1312856432
CA359188120
179 D>G No ClinGen
gnomAD
rs1579656175
CA359188153
184 P>H No ClinGen
Ensembl
TCGA novel 185 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs959794483
CA113915248
186 E>G No ClinGen
TOPMed
gnomAD
rs992537737
CA359188170
187 T>A No ClinGen
TOPMed
gnomAD
CA3199796
rs143784162
187 T>M No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs992537737
CA113915249
187 T>P No ClinGen
TOPMed
gnomAD
CA3199795
rs143784162
187 T>R No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs773025569
CA3199799
188 E>D No ClinGen
ExAC
gnomAD
CA3199800
rs36124677
189 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765917889
CA113915270
190 Y>C No ClinGen
ExAC
gnomAD
CA3199802
rs765917889
190 Y>S No ClinGen
ExAC
gnomAD
rs1431964850
CA359188201
192 A>V No ClinGen
TOPMed
rs753154460
CA3199803
195 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA113915287
rs942933697
197 N>I No ClinGen
TOPMed
rs991649485
CA113917514
199 D>G No ClinGen
Ensembl
CA3199826
rs764314708
199 D>N No ClinGen
ExAC
gnomAD
rs137857729
CA3199829
200 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs137857729
CA3199828
200 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs923436685
CA113917543
202 K>N No ClinGen
TOPMed
gnomAD
rs566464299
CA3199830
203 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs566464299
CA113917548
203 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA359188287
rs1423597983
204 G>D No ClinGen
gnomAD
rs566309974
CA113917549
204 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 206 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3199832
rs766626569
206 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1164659703
CA359188333
211 F>V No ClinGen
TOPMed
COSM1541350
CA359188345
rs1177183015
212 F>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs540931961
CA3199833
213 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1333615586
CA359188367
215 K>N No ClinGen
gnomAD
rs754827777
CA3199834
216 R>K No ClinGen
ExAC
gnomAD
rs574244668
CA3199835
219 L>I No ClinGen
1000Genomes
ExAC
gnomAD
rs142401850
CA3199836
219 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772777023
CA3199837
221 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1219713472
CA359188404
221 S>T No ClinGen
gnomAD
CA359188410
rs1272250956
222 I>F No ClinGen
gnomAD
CA3199838
rs563081436
222 I>N No ClinGen
1000Genomes
ExAC
gnomAD
COSM735131
CA3199839
rs748897594
227 D>Y lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs770280679
CA3199840
228 V>I No ClinGen
ExAC
gnomAD
CA3199841
rs142858482
229 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3199842
rs745468405
230 H>Y No ClinGen
ExAC
gnomAD

No associated diseases with Q96C74

3 regional properties for Q96C74

Type Name Position InterPro Accession
domain Rap/Ran-GAP domain 1532 - 1766 IPR000331
domain Tuberin-type domain 556 - 903 IPR018515
domain Tuberin, N-terminal 54 - 469 IPR024584

Functions

Description
EC Number
Subcellular Localization
  • Cell projection, cilium, flagellum
  • Cell projection, cilium
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
motile cilium A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.

1 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.

4 GO annotations of biological process

Name Definition
epithelial cilium movement involved in extracellular fluid movement The directed, self-propelled movement of cilia of epithelial cells. Depending on the type of cell, there may be one or many cilia per cell. This movement is usually coordinated between many epithelial cells, and serves to move extracellular fluid.
flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
sperm capacitation A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9HAT0 ROPN1 Ropporin-1A Homo sapiens (Human) PR
Q9BZX4 ROPN1B Ropporin-1B Homo sapiens (Human) PR
10 20 30 40 50 60
MPLPDTMFCA QQIHIPPELP DILKQFTKAA IRTQPADVLR WSAGYFSALS RGDPLPVKDR
70 80 90 100 110 120
MEMPTATQKT DTGLTQGLLK VLHKQCHHKR YVELTDLEQK WKNLCLPKEK FKALLQLDPC
130 140 150 160 170 180
ENKIKWINFL ALGCSMLGGS LNTALKHLCE ILTDDPEGGP ARIPFKTFSY VYRYLARLDS
190 200 210 220
DVSPLETESY LASLKENIDA RKNGMIGLSD FFFPKRKLLE SIENSEDVGH