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 Q9UKA8

Entry ID Method Resolution Chain Position Source
AF-Q9UKA8-F1 Predicted AlphaFoldDB

179 variants for Q9UKA8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1287207249
CA339040576
2 L>Q No ClinGen
gnomAD
CA691357
rs762249423
6 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA691358
rs143770846
7 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 8 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA691359
rs750827792
10 N>D No ClinGen
ExAC
gnomAD
TCGA novel 13 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339040706
rs1468581581
13 Q>P No ClinGen
TOPMed
CA339040714
rs1336553125
14 S>A No ClinGen
TOPMed
rs187872798
CA691360
15 D>H No ClinGen
1000Genomes
ExAC
gnomAD
CA19371963
rs1026875055
17 C>R No ClinGen
Ensembl
CA339040768
rs1312418205
19 T>A No ClinGen
gnomAD
TCGA novel 24 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA691361
rs766919059
27 M>T No ClinGen
ExAC
gnomAD
CA691363
rs755117378
28 I>T No ClinGen
ExAC
gnomAD
COSM3774457
rs751623551
CA691362
28 I>V haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 32 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339040935
rs1398347987
33 E>* No ClinGen
TOPMed
CA339040973
rs1335268821
36 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1028894642
CA19371971
36 L>V No ClinGen
TOPMed
TCGA novel 36 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1188613460
CA339040993
37 D>E No ClinGen
gnomAD
rs1250468557
CA339041003
38 E>D No ClinGen
gnomAD
rs1453074538
CA339041028
40 M>I No ClinGen
gnomAD
rs1173409766
CA339041049
42 L>S No ClinGen
gnomAD
rs767692924
CA691364
46 P>R No ClinGen
ExAC
gnomAD
rs1570453932
CA339041095
47 T>I No ClinGen
Ensembl
CA691366
rs756391816
47 T>P No ClinGen
ExAC
gnomAD
rs745688704
CA691368
51 A>V No ClinGen
ExAC
gnomAD
rs1302434001
CA339041131
53 S>G No ClinGen
gnomAD
CA19371990
COSM305414
rs1007205698
54 V>I ovary Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA691371
rs780211129
61 A>S No ClinGen
ExAC
gnomAD
rs1269405655
CA339041252
61 A>V No ClinGen
TOPMed
gnomAD
CA691372
rs572041594
62 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768335430
CA691373
62 R>Q No ClinGen
ExAC
gnomAD
CA691398
rs769315627
71 L>F No ClinGen
ExAC
gnomAD
CA691400
rs749582563
72 F>V No ClinGen
ExAC
gnomAD
rs771334440
CA691401
74 I>V No ClinGen
ExAC
gnomAD
rs774719138
CA691402
75 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1414903931
CA339043523
76 D>N No ClinGen
TOPMed
CA691404
rs768026272
78 Q>* No ClinGen
ExAC
gnomAD
rs1223744200
CA339043564
78 Q>H No ClinGen
Ensembl
CA339043568
rs1309516478
79 V>I No ClinGen
gnomAD
rs1570482499
CA339043599
81 F>S No ClinGen
Ensembl
rs1243462513
CA339043632
84 F>I No ClinGen
gnomAD
CA19382853
rs555532587
85 K>E No ClinGen
1000Genomes
gnomAD
rs763367101
CA19382861
87 F>V No ClinGen
Ensembl
CA691406
rs141776967
88 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339043699
rs141776967
88 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754141508
CA691408
91 R>G No ClinGen
ExAC
gnomAD
CA691409
rs761968796
95 S>N No ClinGen
ExAC
gnomAD
rs1403101339
CA339043848
99 A>T No ClinGen
TOPMed
CA691410
rs766240145
99 A>V No ClinGen
ExAC
TOPMed
rs1368504170
CA339043875
101 A>G No ClinGen
TOPMed
CA339043901
rs781334031
103 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA691413
rs781334031
103 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA19382905
rs535171467
COSM2233643
104 R>* Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs201206210
CA19382920
104 R>Q No ClinGen
TOPMed
gnomAD
rs777266872
COSM183788
CA691416
109 E>K large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748921982
CA691418
111 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1373272338
CA339044002
111 D>N No ClinGen
gnomAD
CA339044027
rs1341809665
112 F>L No ClinGen
gnomAD
CA339044025
rs1334264679
112 F>Y No ClinGen
gnomAD
CA339044041
rs1482923507
113 N>S No ClinGen
TOPMed
CA691419
rs779190932
119 L>V No ClinGen
ExAC
gnomAD
rs746289950
CA691420
120 Y>C No ClinGen
ExAC
gnomAD
CA339044159
rs1343435089
123 Q>* No ClinGen
gnomAD
rs974614763
CA19384272
124 V>L No ClinGen
TOPMed
gnomAD
rs537312929
CA691446
126 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA691445
rs748292030
126 M>V No ClinGen
ExAC
gnomAD
rs1354749727
CA339044734
127 S>F No ClinGen
TOPMed
rs200334877
CA19384372
128 G>S No ClinGen
gnomAD
CA691451
rs137921271
129 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA691452
rs763997085
130 V>M No ClinGen
ExAC
gnomAD
CA691454
rs376349376
131 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA691455
COSM1287568
rs376349376
131 R>Q autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA691453
rs114568126
131 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA339044854
rs1257345638
134 S>A No ClinGen
TOPMed
rs758080794
CA691457
135 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs992332238
CA19384413
136 L>V No ClinGen
TOPMed
gnomAD
CA19384428
rs918141676
138 P>L No ClinGen
TOPMed
gnomAD
rs982418193
CA19384436
139 P>R No ClinGen
TOPMed
CA339044914
rs1303810774
139 P>S No ClinGen
gnomAD
rs1334209628
CA339044927
140 Q>* No ClinGen
gnomAD
CA339044943
rs1227957438
141 P>L No ClinGen
gnomAD
rs747351378
CA691459
143 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs368507829
CA19384447
144 Q>* No ClinGen
ESP
TOPMed
gnomAD
rs368507829
CA339044970
144 Q>K No ClinGen
ESP
TOPMed
gnomAD
CA339045015
rs755493321
147 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs755493321
CA691460
147 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs941050209
CA19384473
148 S>C No ClinGen
TOPMed
rs1570486789
CA339045025
148 S>P No ClinGen
Ensembl
rs934518179
CA19384491
152 S>F No ClinGen
Ensembl
CA691462
rs748206064
152 S>P No ClinGen
ExAC
gnomAD
TCGA novel 153 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA691464
rs773447065
154 P>A No ClinGen
ExAC
gnomAD
CA691465
rs200941489
TCGA novel
154 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
rs200941489
CA691466
154 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773447065
CA339045140
154 P>T No ClinGen
ExAC
gnomAD
CA339045193
rs1213605845
155 V>A No ClinGen
TOPMed
COSM2154206
rs760454730
CA691468
155 V>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA339045165
rs760454730
155 V>M No ClinGen
ExAC
gnomAD
rs1368430250
CA339045214
156 G>A No ClinGen
TOPMed
gnomAD
rs1458808199
CA339045266
158 K>T No ClinGen
gnomAD
rs1295667479
CA339045294
160 S>N No ClinGen
gnomAD
rs1570487033
CA339045314
161 E>K No ClinGen
Ensembl
rs375739733
CA691471
161 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA19384530
rs12096648
162 D>N No ClinGen
Ensembl
rs1477176258
CA339045383
163 A>T No ClinGen
TOPMed
CA691472
COSM907321
rs764690503
163 A>V Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758015034
CA691474
164 M>I No ClinGen
ExAC
gnomAD
CA691475
rs766001734
165 P>T No ClinGen
ExAC
gnomAD
rs751944876
CA691477
166 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA691476
rs751944876
166 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA691478
rs781758386
167 I>T No ClinGen
ExAC
gnomAD
CA691479
rs578111021
170 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1179614803
CA339045588
171 L>I No ClinGen
gnomAD
CA339045613
rs1423879158
172 L>F No ClinGen
gnomAD
CA339045619
rs1167612918
172 L>R No ClinGen
gnomAD
CA339045635
rs1326005435
173 C>S No ClinGen
gnomAD
CA339045670
rs1429574173
175 V>D No ClinGen
gnomAD
rs1413098338
CA339045714
178 L>F No ClinGen
TOPMed
gnomAD
CA691483
rs771180301
178 L>S No ClinGen
ExAC
gnomAD
rs767951375
CA691499
182 E>* No ClinGen
ExAC
gnomAD
rs1359938838
CA339046069
183 K>R No ClinGen
gnomAD
CA691500
rs753114485
184 Y>H No ClinGen
ExAC
gnomAD
rs536043906
CA19385894
187 H>L No ClinGen
gnomAD
rs150017600
CA691503
CA339046104
187 H>Q No ClinGen
ESP
ExAC
gnomAD
rs757331298
CA691504
188 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA19385911
rs757331298
188 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1367182769
CA339046106
188 A>V No ClinGen
gnomAD
rs779074675
CA691505
189 G>A No ClinGen
ExAC
gnomAD
rs145000277
CA691506
192 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1211617950
CA339046176
192 S>L No ClinGen
gnomAD
rs772289173
CA691507
193 T>A No ClinGen
ExAC
gnomAD
CA691508
rs780910471
195 S>R No ClinGen
ExAC
gnomAD
rs201305577
CA691509
196 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs201305577
CA19386020
196 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1250410688
CA339046250
197 V>M No ClinGen
TOPMed
gnomAD
rs770294950
CA691513
203 S>G No ClinGen
ExAC
gnomAD
TCGA novel 206 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA691514
rs375204010
206 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339046411
rs1388074957
207 E>G No ClinGen
gnomAD
rs140425934
CA691516
208 E>G No ClinGen
ESP
ExAC
gnomAD
rs759042205
CA691515
208 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA339046467
rs1570491497
210 E>A No ClinGen
Ensembl
CA691517
rs753098123
210 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1171015093
CA339046543
213 N>I No ClinGen
TOPMed
CA339046549
rs1220650035
213 N>K No ClinGen
gnomAD
CA19386036
rs968216586
214 P>A No ClinGen
gnomAD
TCGA novel 214 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA691520
rs369650223
216 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA19386053
rs977623933
217 K>Q No ClinGen
TOPMed
gnomAD
rs754252249
CA691521
218 I>T No ClinGen
ExAC
gnomAD
CA691523
rs199846009
219 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750533612
CA339046696
221 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs750533612
CA691525
221 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs780325659
CA691527
223 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM907333
CA691530
rs201998230
223 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
CA691528
rs201998230
223 R>L No ClinGen
1000Genomes
ExAC
TOPMed
TCGA novel 224 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA691531
rs755949273
224 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA691532
rs201388228
225 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA339046776
rs1305847446
226 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA691533
rs749138606
226 P>S No ClinGen
ExAC
gnomAD
rs749138606
CA339046767
226 P>T No ClinGen
ExAC
gnomAD
CA339046790
rs1557581891
227 P>Q No ClinGen
Ensembl
CA339046817
rs745441499
229 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA691536
rs745441499
229 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs570531184
CA691537
230 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs537734865
CA691539
233 E>V No ClinGen
1000Genomes
ExAC
gnomAD
CA691540
rs549837822
235 Q>P No ClinGen
1000Genomes
ExAC
gnomAD
CA691541
rs16829813
VAR_033727
236 T>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA691543
rs762171578
237 F>S No ClinGen
ExAC
gnomAD
CA691544
rs535334211
238 D>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 238 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA691545
rs750469328
239 C>Y No ClinGen
ExAC
TOPMed
gnomAD
COSM907334
rs553942744
CA691546
240 A>T endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA691547
rs766562250
240 A>V No ClinGen
ExAC
gnomAD
CA339046978
rs1426338773
241 L>V No ClinGen
gnomAD

No associated diseases with Q9UKA8

No regional properties for Q9UKA8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9UKA8

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

4 GO annotations of molecular function

Name Definition
calcium-dependent protein serine/threonine phosphatase regulator activity Binds to and modulates of the activity of the enzyme calcium-dependent protein serine/threonine phosphatase.
phosphatase binding Binding to a phosphatase.
RNA binding Binding to an RNA molecule or a portion thereof.
troponin I binding Binding to troponin I, the inhibitory subunit of the troponin complex.

2 GO annotations of biological process

Name Definition
anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
calcium-mediated signaling Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P36054 RCN1 Calcipressin-like protein Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q3ZC15 RCAN2 Calcipressin-2 Bos taurus (Bovine) PR
Q2KIA1 RCAN3 Calcipressin-3 Bos taurus (Bovine) PR
Q5ZJV6 RCAN3 Calcipressin-3 Gallus gallus (Chicken) PR
A5A6I8 RCAN2 Calcipressin-2 Pan troglodytes (Chimpanzee) PR
Q14206 RCAN2 Calcipressin-2 Homo sapiens (Human) PR
Q9JHG2 Rcan2 Calcipressin-2 Mus musculus (Mouse) PR
Q9JKK0 Rcan3 Calcipressin-3 Mus musculus (Mouse) PR
Q8CH27 Rcan2 Calcipressin-2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MLRDTMKSWN DSQSDLCSTD QEEEEEMIFG ENEDDLDEMM DLSDLPTSLF ACSVHEAVFE
70 80 90 100 110 120
AREQKERFEA LFTIYDDQVT FQLFKSFRRV RINFSKPEAA ARARIELHET DFNGQKLKLY
130 140 150 160 170 180
FAQVQMSGEV RDKSYLLPPQ PVKQFLISPP ASPPVGWKQS EDAMPVINYD LLCAVSKLGP
190 200 210 220 230 240
GEKYELHAGT ESTPSVVVHV CESETEEEEE TKNPKQKIAQ TRRPDPPTAA LNEPQTFDCA
L