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 Q96LZ3

Entry ID Method Resolution Chain Position Source
AF-Q96LZ3-F1 Predicted AlphaFoldDB

165 variants for Q96LZ3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs774345802
CA5163007
2 G>* No ClinGen
ExAC
gnomAD
CA374269838
rs1229246164
3 N>I No ClinGen
gnomAD
rs1306296472
CA374269827
4 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1306296472
CA374269826
4 E>Q No ClinGen
TOPMed
gnomAD
rs1409335296
CA374269808
5 A>D No ClinGen
gnomAD
rs1166309236
CA374269811
5 A>T No ClinGen
TOPMed
rs1349910106
CA374269798
6 S>C No ClinGen
TOPMed
rs1336161046
CA374269752
9 A>G No ClinGen
gnomAD
CA5163004
rs375935503
10 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA197298845
CA5163003
rs374058531
11 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1410200833
CA374269732
11 M>L No ClinGen
TOPMed
CA374269689
rs1371106344
14 H>Y No ClinGen
TOPMed
rs953717988
CA374269619
18 D>E No ClinGen
TOPMed
CA374269617
rs1472868875
19 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs146408489
CA5162999
20 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1212935879
CA374269584
21 K>E No ClinGen
gnomAD
CA5162998
rs751096597
22 R>K No ClinGen
ExAC
gnomAD
rs1564121703
CA374269541
24 G>D No ClinGen
Ensembl
rs1209540092
CA374269535
25 R>G No ClinGen
gnomAD
CA374269525
rs1220597185
25 R>S No ClinGen
TOPMed
CA197298795
rs985323161
26 R>S No ClinGen
TOPMed
gnomAD
rs1588240768
CA374269504
27 F>V No ClinGen
Ensembl
CA5162996
rs542836480
29 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750777610
CA5162994
31 D>E No ClinGen
ExAC
rs765721292
CA5162993
32 L>F No ClinGen
ExAC
gnomAD
rs762071489
CA5162992
33 D>Y No ClinGen
ExAC
gnomAD
CA374269403
rs1564121687
34 K>E No ClinGen
Ensembl
rs576097834
CA5162990
36 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1445752266
CA374269376
36 G>R No ClinGen
TOPMed
gnomAD
rs576097834
CA374269369
36 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1413726400
CA374269353
38 L>P No ClinGen
Ensembl
CA197298711
rs143999871
39 S>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs760800259
CA5162987
39 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5162986
rs775485051
40 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374269323
rs1443460162
41 E>Q No ClinGen
TOPMed
rs1588240707
TCGA novel
CA374269281
43 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
CA374269274
rs1564121654
44 M>L No ClinGen
Ensembl
rs553900338
CA5162984
44 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5162983
rs772939200
45 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1327958202
CA374269251
46 L>Q No ClinGen
TOPMed
rs906528742
CA197298679
48 E>D No ClinGen
TOPMed
gnomAD
CA374269228
rs1325683448
48 E>G No ClinGen
Ensembl
rs151333989
CA5162980
48 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151333989
CA5162981
48 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142403692
CA5162977
49 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1466578003
CA374269217
49 L>Q No ClinGen
gnomAD
rs142403692
CA5162976
49 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746497872
CA5162975
50 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs577767900
CA5162974
50 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA374269212
rs746497872
50 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs758927110
CA5162973
52 N>D No ClinGen
ExAC
gnomAD
rs751936797
CA5162972
52 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA5162970
rs201878659
53 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201878659
CA5162971
53 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs867279328
CA197298644
53 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1298300082
CA374269134
56 R>Q No ClinGen
TOPMed
gnomAD
rs1378306586
CA374269136
56 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA374269123
rs1436991419
57 R>P No ClinGen
gnomAD
rs754217594
CA5162968
58 V>G No ClinGen
ExAC
gnomAD
rs1362847727
CA374269117
58 V>L No ClinGen
gnomAD
CA374269085
rs148782154
60 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5162966
rs756326986
61 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs752778285
CA5162965
62 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs767514182
CA5162964
63 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1391421876
CA374269033
64 T>I No ClinGen
TOPMed
CA5162963
rs762817577
65 D>H No ClinGen
ExAC
gnomAD
CA197298500
rs267602059
66 G>D No ClinGen
Ensembl
CA5162962
rs202237297
66 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5162961
rs202237297
66 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 67 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1248714701
CA374268972
69 E>* No ClinGen
gnomAD
CA374268961
rs1219434998
70 V>L No ClinGen
TOPMed
gnomAD
rs1219434998
CA374268957
70 V>M No ClinGen
TOPMed
gnomAD
rs904678937
CA197298480
71 D>Y No ClinGen
TOPMed
gnomAD
CA5162956
rs768315406
72 F>L No ClinGen
ExAC
gnomAD
CA374268908
rs1227024419
73 K>R No ClinGen
TOPMed
rs144342934
CA374268839
78 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144342934
CA5162955
78 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775007740
CA5162954
81 Q>* No ClinGen
ExAC
gnomAD
CA374268790
rs1296623488
82 F>L No ClinGen
TOPMed
gnomAD
rs771714332
CA5162953
83 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs745440244
CA5162952
83 S>N No ClinGen
ExAC
gnomAD
CA374268769
rs1291491534
84 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5162950
rs140002593
85 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778025730
CA5162948
85 K>N No ClinGen
ExAC
gnomAD
CA5162947
rs756306363
86 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA5162945
rs767516711
88 E>K No ClinGen
ExAC
gnomAD
CA5162944
rs267602058
89 E>K No ClinGen
ExAC
gnomAD
TCGA novel 93 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5162943
rs751694822
93 R>T No ClinGen
ExAC
gnomAD
rs765137583
CA5162942
94 F>S No ClinGen
ExAC
gnomAD
rs1228924887
CA374268619
95 A>T No ClinGen
gnomAD
rs1252638845
CA374268611
95 A>V No ClinGen
TOPMed
gnomAD
CA197298332
rs761688744
96 F>I No ClinGen
ExAC
gnomAD
CA5162941
rs761688744
96 F>L No ClinGen
ExAC
gnomAD
rs569559919
CA5162938
100 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201136759
CA5162937
101 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs201136759
CA5162936
101 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA374268510
rs1428282686
102 D>E No ClinGen
TOPMed
rs555766318
CA197298251
106 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA5162933
rs771520274
106 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs778138570
CA5162931
107 I>F No ClinGen
ExAC
gnomAD
rs770055637
CA5162930
109 N>S No ClinGen
ExAC
gnomAD
rs1564121492
CA374268406
110 G>E No ClinGen
Ensembl
rs1337311300
CA374268410
110 G>R No ClinGen
Ensembl
CA374268383
rs1161249912
112 L>I No ClinGen
TOPMed
TCGA novel 115 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781377759
CA5162928
117 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA5162927
rs755241988
118 M>I No ClinGen
ExAC
gnomAD
rs1381709595
CA374268306
118 M>V No ClinGen
TOPMed
TCGA novel 119 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751607120
CA5162926
119 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA374268270
rs1588240457
120 V>G No ClinGen
Ensembl
rs536109611
CA5162925
120 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1564121470
CA374268238
123 N>I No ClinGen
Ensembl
rs1564121470
CA374268242
123 N>T No ClinGen
Ensembl
CA5162924
rs757162006
124 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA374268221
rs1564121465
125 T>A No ClinGen
Ensembl
rs1200972717
CA374268216
125 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1200972717
CA374268218
125 T>R No ClinGen
gnomAD
CA374268197
rs753725526
126 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA374268184
rs1202597957
127 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA374268182
rs1202597957
127 W>C No ClinGen
gnomAD
rs989671822
CA374268192
127 W>G No ClinGen
TOPMed
rs989671822
CA197298153
127 W>R No ClinGen
TOPMed
rs1329387569
CA374268163
129 L>F No ClinGen
gnomAD
rs771888538
CA5162922
130 Q>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 133 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374268111
rs1588240425
133 V>G No ClinGen
Ensembl
rs1226023557
CA374268118
133 V>I No ClinGen
gnomAD
rs1588240416
CA374268105
134 D>G No ClinGen
Ensembl
rs760377198
CA374268108
134 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760377198
CA5162921
134 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1588240411
CA374268077
136 T>N No ClinGen
Ensembl
rs767251662
CA5162919
138 I>N No ClinGen
ExAC
gnomAD
CA374268055
rs767251662
138 I>S No ClinGen
ExAC
gnomAD
CA5162920
rs752591338
138 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA374268014
rs1161738334
141 D>E No ClinGen
TOPMed
gnomAD
rs1389625088
CA374268020
141 D>G No ClinGen
gnomAD
CA5162916
rs770358010
143 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA5162917
rs773945805
143 D>N No ClinGen
ExAC
gnomAD
CA374267966
rs1416595570
145 D>G No ClinGen
gnomAD
CA5162914
rs140969417
145 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1254045172
CA374267953
146 G>E No ClinGen
gnomAD
rs748438582
CA5162912
148 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1364309672
CA374267915
149 S>T No ClinGen
TOPMed
rs1269621315
CA374267911
149 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs781576089
CA5162911
150 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA197298059
rs547123769
151 E>Q No ClinGen
1000Genomes
rs373748590
CA197298054
152 E>V No ClinGen
Ensembl
rs1588240358
CA374267861
153 F>I No ClinGen
Ensembl
CA5162910
rs774775761
154 S>G No ClinGen
ExAC
gnomAD
TCGA novel 155 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1323994048
CA374267809
157 V>A No ClinGen
gnomAD
rs747246148
CA5162909
157 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1588240340
CA374267805
158 R>G No ClinGen
Ensembl
rs113905393
CA197298007
159 D>G No ClinGen
Ensembl
rs758405374
CA374267743
162 I>M No ClinGen
ExAC
gnomAD
rs1322745186
CA374267739
163 H>Y No ClinGen
gnomAD
rs376770102
CA5162906
165 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777552418
CA5162905
167 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5162904
rs756120221
168 L>P No ClinGen
ExAC
gnomAD
rs151037849
CA5162902
170 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 170 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374267648
rs1412059986
CA374267646
171 V>R No ClinGen
TOPMed

No associated diseases with Q96LZ3

1 regional properties for Q96LZ3

Type Name Position InterPro Accession
domain Thymidylate kinase-like domain 8 - 196 IPR039430

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion
  • Localizes in the mitochondria in a SPATA33-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
calcineurin complex A heterodimeric calcium ion and calmodulin dependent protein phosphatase composed of catalytic and regulatory subunits; the regulatory subunit is very similar in sequence to calmodulin.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
protein serine/threonine phosphatase complex A complex, normally consisting of a catalytic and a regulatory subunit, which catalyzes the removal of a phosphate group from a serine or threonine residue of a protein.
sperm mitochondrial sheath The tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum.

3 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
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.

8 GO annotations of biological process

Name Definition
calcineurin-mediated signaling Any intracellular signal transduction in which the signal is passed on within the cell by activation of a transcription factor as a consequence of dephosphorylation by Ca(2+)-activated calcineurin. The process begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin is a calcium- and calmodulin-dependent serine/threonine protein phosphatase with a conserved function in eukaryotic species from yeast to humans. In yeast and fungi, calcineurin regulates stress signaling and cell cycle, and sporulation and virulence in pathogenic fungi. In metazoans, calcineurin is involved in cell commitment, organogenesis and organ development and immune function of T-lymphocytes. By a conserved mechanism, calcineurin phosphatase activates fungal Crz1 and mammalian NFATc by dephosphorylation and translocation of these transcription factors to the nucleus to regulate gene expression.
negative regulation of calcium ion import across plasma membrane Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion import across plasma membrane.
negative regulation of voltage-gated calcium channel activity Any process that stops, prevents or reduces the frequency, rate or extent of voltage-gated calcium channel activity.
penetration of zona pellucida The infiltration by sperm of the zona pellucida to reach the oocyte. The process involves digestive enzymes from a modified lysosome called the acrosome, situated at the head of the sperm.
positive regulation of calcineurin-NFAT signaling cascade Any process that activates or increases the frequency, rate or extent of signaling via the calcineurin-NFAT signaling cascade.
positive regulation of calcium ion import across plasma membrane Any process that activates or increases the frequency, rate or extent of calcium ion import across plasma membrane.
positive regulation of voltage-gated calcium channel activity Any process that activates or increases the frequency, rate or extent of voltage-gated calcium channel activity.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P63099 PPP3R1 Calcineurin subunit B type 1 Bos taurus (Bovine) PR
Q2TBI5 PPP3R2 Calcineurin subunit B type 2 Bos taurus (Bovine) PR
A0AVX7 TESC Calcineurin B homologous protein 3 Gallus gallus (Chicken) PR
Q96BS2 TESC Calcineurin B homologous protein 3 Homo sapiens (Human) PR
P63098 PPP3R1 Calcineurin subunit B type 1 Homo sapiens (Human) PR
Q9JKL5 Tesc Calcineurin B homologous protein 3 Mus musculus (Mouse) PR
Q63810 Ppp3r1 Calcineurin subunit B type 1 Mus musculus (Mouse) PR
P63100 Ppp3r1 Calcineurin subunit B type 1 Rattus norvegicus (Rat) PR
P28470 Ppp3r2 Calcineurin subunit B type 2 Rattus norvegicus (Rat) PR
Q75KU4 CBL4 Calcineurin B-like protein 4 Oryza sativa subsp japonica (Rice) PR
Q7XC27 CBL1 Calcineurin B-like protein 1 Oryza sativa subsp japonica (Rice) PR
10 20 30 40 50 60
MGNEASYPAE MCSHFDNDEI KRLGRRFKKL DLDKSGSLSV EEFMSLPELR HNPLVRRVID
70 80 90 100 110 120
VFDTDGDGEV DFKEFILGTS QFSVKGDEEQ KLRFAFSIYD MDKDGYISNG ELFQVLKMMV
130 140 150 160
GNNLTDWQLQ QLVDKTIIIL DKDGDGKISF EEFSAVVRDL EIHKKLVLIV