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

5 structures for P28676

Entry ID Method Resolution Chain Position Source
1F4O X-ray 250 A A/B 53-217 PDB
1F4Q X-ray 190 A A/B 53-217 PDB
1K94 X-ray 170 A A/B 53-217 PDB
1K95 X-ray 190 A A 53-217 PDB
AF-P28676-F1 Predicted AlphaFoldDB

186 variants for P28676

Variant ID(s) Position Change Description Diseaes Association Provenance
CA348989227
rs1207831687
2 A>S No ClinGen
TOPMed
rs1441631066
CA348989230
2 A>V No ClinGen
TOPMed
rs1380680973
CA348989253
3 Y>* No ClinGen
TOPMed
gnomAD
CA348989249
rs1384365254
3 Y>C No ClinGen
TOPMed
gnomAD
rs1326490816
CA348989266
4 P>A No ClinGen
TOPMed
rs377430052
CA1934953
4 P>L No ClinGen
ESP
ExAC
gnomAD
rs1243075701
CA348989297
5 G>* No ClinGen
TOPMed
gnomAD
CA348989298
rs1283916066
5 G>E No ClinGen
gnomAD
rs969544407
CA59664107
6 Y>* No ClinGen
TOPMed
rs1284468160
CA348989364
8 G>E No ClinGen
gnomAD
rs768158188
CA1934955
8 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs981859315
CA59664132
9 G>V No ClinGen
TOPMed
TCGA novel 11 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774079196
CA1934979
13 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs759501870
CA1934980
15 I>L No ClinGen
ExAC
gnomAD
CA348990521
rs759501870
15 I>V No ClinGen
ExAC
gnomAD
TCGA novel 16 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767400119
CA1934981
16 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs776817268
CA1934982
18 P>S No ClinGen
ExAC
gnomAD
CA348990615
rs1255868355
20 M>K No ClinGen
gnomAD
rs761940724
CA1934983
21 Q>R No ClinGen
ExAC
gnomAD
rs765433325
CA1934984
22 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA1934985
rs750619966
23 G>E No ClinGen
ExAC
gnomAD
rs751929215
CA1934989
29 T>A No ClinGen
ExAC
gnomAD
rs1576283957
CA348990775
29 T>I No ClinGen
Ensembl
CA59667114
rs903383504
30 G>D No ClinGen
TOPMed
gnomAD
COSM353038
rs903383504
CA348990797
30 G>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs748685566
CA1934992
31 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA348990806
rs1458703522
31 P>S No ClinGen
gnomAD
CA348990823
rs1244793237
32 A>G No ClinGen
TOPMed
rs1188863191
CA348990836
33 I>T No ClinGen
gnomAD
CA348990828
rs1282026320
33 I>V No ClinGen
gnomAD
CA59667148
rs1033141972
34 L>V No ClinGen
Ensembl
rs1222017638
CA348990880
36 D>E No ClinGen
gnomAD
rs1340258525
CA348990874
36 D>G No ClinGen
TOPMed
rs774170639
CA1934997
36 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs201297392
CA1934998
38 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA59667185
rs140882466
39 S>P No ClinGen
ESP
TOPMed
CA348990940
rs1209328161
41 P>S No ClinGen
TOPMed
gnomAD
rs1293084545
CA348990960
42 A>P No ClinGen
TOPMed
rs138275925
CA59667201
45 D>G No ClinGen
ESP
TOPMed
TCGA novel 49 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755258895
CA1935007
54 V>A No ClinGen
ExAC
gnomAD
rs766560685
CA1935005
54 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs766560685
CA1935006
54 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs767881330
CA1935008
56 T>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 56 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1935009
rs773905255
57 Y>* No ClinGen
ExAC
gnomAD
rs756679204
CA1935011
61 V>F No ClinGen
ExAC
gnomAD
CA348991500
rs1194986306
62 A>T No ClinGen
TOPMed
CA348991534
rs1558895320
63 G>E No ClinGen
Ensembl
rs1558895341
CA348991562
64 Q>R No ClinGen
Ensembl
CA348992787
rs1309960649
65 D>G No ClinGen
gnomAD
CA59671181
rs903849548
65 D>Y No ClinGen
TOPMed
gnomAD
rs1355759760
CA348992831
67 E>D No ClinGen
gnomAD
rs759809790
CA348992834
68 V>L No ClinGen
ExAC
gnomAD
rs759809790
CA1935026
68 V>M No ClinGen
ExAC
gnomAD
rs767862968
CA1935027
69 D>V No ClinGen
ExAC
gnomAD
rs1576290965
CA348992863
70 A>G No ClinGen
Ensembl
rs79565841
CA1935030
74 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1935029
rs373720297
74 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348992934
rs1461195511
75 R>K No ClinGen
TOPMed
gnomAD
CA1935031
rs754396914
76 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA1935032
rs756668151
77 L>M No ClinGen
ExAC
gnomAD
CA348992973
rs1287713877
78 T>A No ClinGen
gnomAD
rs1156325552
CA348992975
78 T>K No ClinGen
gnomAD
rs1406553414
CA537098455
78 T>LME* No ClinGen
gnomAD
CA1935033
rs778502564
79 Q>E No ClinGen
ExAC
gnomAD
rs17783344
CA1935034
VAR_048657
80 S>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1469160548
CA348993011
81 G>E No ClinGen
gnomAD
rs1440950061
CA348993047
84 G>R No ClinGen
TOPMed
rs746851226
CA1935038
86 Y>* No ClinGen
ExAC
gnomAD
CA1935037
rs758193923
86 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs758193923
CA1935036
86 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1204493424
CA348993091
87 S>P No ClinGen
TOPMed
CA1935039
rs768684664
88 P>S No ClinGen
ExAC
gnomAD
rs777124789
CA1935068
90 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1223158704
CA348993927
93 T>I No ClinGen
gnomAD
CA348993925
rs1223158704
93 T>S No ClinGen
gnomAD
CA1935070
rs765825935
97 M>I No ClinGen
ExAC
gnomAD
COSM3961381
CA1935069
rs762216281
97 M>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1193997371
CA348993981
98 I>T No ClinGen
TOPMed
gnomAD
rs1158441479
CA348993998
100 M>V No ClinGen
TOPMed
rs1474344000
CA348994025
102 D>H No ClinGen
gnomAD
CA348994081
rs1274926193
104 D>A No ClinGen
TOPMed
TCGA novel 104 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780108109
CA348994111
106 T>I No ClinGen
ExAC
gnomAD
rs780108109
CA1935082
106 T>K No ClinGen
ExAC
gnomAD
CA1935083
rs747231579
109 M>V No ClinGen
ExAC
gnomAD
CA348994150
rs1233059959
CA348994151
110 G>R No ClinGen
TOPMed
gnomAD
CA1935084
rs768984156
112 N>K No ClinGen
ExAC
gnomAD
rs376239356
CA59675008
115 K>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1935085
rs376239356
115 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748589021
CA1935086
117 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA348994252
rs1314290993
118 W>* No ClinGen
gnomAD
rs1381824423
COSM302293
CA348994259
119 A>E central_nervous_system [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1446263061
CA348994312
124 W>C No ClinGen
gnomAD
rs763567637
CA1935089
125 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA1935090
rs765921170
127 N>D No ClinGen
ExAC
gnomAD
CA1935092
rs574274580
129 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1935091
rs774061805
129 M>V No ClinGen
ExAC
gnomAD
CA1935093
rs767237823
131 V>L No ClinGen
ExAC
gnomAD
CA1935095
rs755886900
132 D>V No ClinGen
ExAC
gnomAD
rs1181518605
CA348994432
134 D>E No ClinGen
TOPMed
gnomAD
CA1935096
rs763887378
134 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA1935098
rs753704592
135 G>* No ClinGen
ExAC
gnomAD
CA1935097
rs753704592
135 G>R No ClinGen
ExAC
gnomAD
CA1935099
rs748003453
136 S>G No ClinGen
ExAC
gnomAD
rs1464188201
CA348994447
136 S>N No ClinGen
TOPMed
CA1935100
rs751690544
138 T>A No ClinGen
ExAC
gnomAD
rs1353408961
CA348994483
140 E>K No ClinGen
TOPMed
rs748342688
CA1935105
141 H>L No ClinGen
ExAC
CA1935103
rs781436722
141 H>Y No ClinGen
ExAC
gnomAD
rs770137996
CA1935106
142 H>Q No ClinGen
ExAC
gnomAD
CA348994519
rs1336422978
142 H>R No ClinGen
gnomAD
rs976980582
CA59675110
143 E>D No ClinGen
gnomAD
rs957923900
CA59675103
143 E>Q No ClinGen
TOPMed
CA348994559
rs1305447331
144 L>S No ClinGen
gnomAD
rs563127943
CA1935108
145 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1935109
rs374402814
145 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348994579
rs374402814
145 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs935167342
CA59675123
147 A>T No ClinGen
Ensembl
CA348994637
rs1201551043
149 G>A No ClinGen
gnomAD
rs773966108
CA1935110
149 G>C No ClinGen
ExAC
gnomAD
CA1935111
rs759045455
151 M>I No ClinGen
ExAC
gnomAD
CA59675130
rs776471360
151 M>T No ClinGen
TOPMed
CA348995044
rs1199029177
152 G>V No ClinGen
gnomAD
CA348995054
rs1424586458
153 Y>C No ClinGen
gnomAD
CA348995053
rs1424586458
153 Y>F No ClinGen
gnomAD
CA59676639
rs904134185
154 R>K No ClinGen
TOPMed
gnomAD
rs760359625
CA59676643
154 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 154 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776380970
CA1935134
155 L>S No ClinGen
ExAC
gnomAD
CA348995095
rs1366951115
157 P>A No ClinGen
gnomAD
rs548241509
CA1935135
159 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs750318325
CA1935139
161 T>A No ClinGen
ExAC
gnomAD
rs184430160
CA1935140
162 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1006089442
CA59676658
162 T>I No ClinGen
Ensembl
TCGA novel 162 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1558903683
CA348995161
163 I>V No ClinGen
Ensembl
CA59676684
rs767630618
164 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs767630618
CA1935142
164 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs377112025
COSM1008382
CA1935143
166 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1576300319
CA348995195
166 R>H No ClinGen
Ensembl
rs146161584
CA1935145
168 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1221833922
CA348995228
169 K>E No ClinGen
gnomAD
CA59676700
rs974996717
169 K>R No ClinGen
Ensembl
rs754134384
CA1935146
171 G>D No ClinGen
ExAC
gnomAD
rs746379441
CA1935149
175 F>L No ClinGen
ExAC
gnomAD
rs955648964
CA59676732
176 D>G No ClinGen
TOPMed
rs955648964
CA59676725
176 D>V No ClinGen
TOPMed
CA59676752
rs896884022
177 D>H No ClinGen
TOPMed
gnomAD
CA348995330
rs896884022
177 D>N No ClinGen
TOPMed
gnomAD
CA1935151
rs779597767
178 Y>C No ClinGen
ExAC
gnomAD
CA348995347
rs779597767
178 Y>F No ClinGen
ExAC
gnomAD
rs1162317604
CA348995401
183 V>L No ClinGen
gnomAD
rs1286729125
CA348995418
184 K>N No ClinGen
gnomAD
rs367777675
CA1935154
184 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141572054
CA1935155
186 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1935156
rs769512674
186 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772948593
CA1935157
187 A>V No ClinGen
ExAC
gnomAD
CA1935162
rs760787628
189 T>I No ClinGen
ExAC
gnomAD
CA1935163
rs764280974
190 D>N No ClinGen
ExAC
gnomAD
rs1406813775
CA348995554
193 R>W No ClinGen
gnomAD
rs1433361774
CA348995565
194 K>E No ClinGen
gnomAD
CA1935180
rs558963969
194 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348995599
rs1185253678
196 D>E No ClinGen
TOPMed
rs774097597
CA1935182
198 L>S No ClinGen
ExAC
gnomAD
CA348995615
rs1332036724
199 Q>K No ClinGen
gnomAD
rs1356138320
CA348995623
200 Q>K No ClinGen
TOPMed
gnomAD
CA59677135
rs889443052
200 Q>R No ClinGen
TOPMed
CA348995631
rs1332971486
201 G>R No ClinGen
TOPMed
rs558346557
CA348995651
203 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs558346557
CA1935183
203 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs764260531
CA1935184
206 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA1935186
rs368854743
206 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs764260531
CA1935185
206 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs765421255
CA1935187
207 Y>H No ClinGen
ExAC
gnomAD
rs1219634675
CA348995704
208 D>G No ClinGen
gnomAD
CA1935188
rs146185329
208 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1935190
COSM1008383
rs766783966
209 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1161692599
CA348995801
212 Q>H No ClinGen
gnomAD
rs1365214851
CA348995805
213 G>C No ClinGen
gnomAD
CA348995809
rs1401465572
213 G>D No ClinGen
gnomAD
rs767971090
CA1935212
214 T>A No ClinGen
ExAC
gnomAD
CA1935213
rs753222449
215 M>V No ClinGen
ExAC
gnomAD

No associated diseases with P28676

3 regional properties for P28676

Type Name Position InterPro Accession
domain EF-hand domain 64 - 121 IPR002048-1
domain EF-hand domain 119 - 154 IPR002048-2
binding_site EF-Hand 1, calcium-binding site 132 - 144 IPR018247

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasmic granule membrane ; Peripheral membrane protein; Cytoplasmic side
  • Primarily cytosolic in the absence of calcium or magnesium ions
  • Relocates to granules and other membranes in response to elevated calcium and magnesium levels
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
azurophil granule lumen The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity Binding to an identical protein to form a homodimer.

1 GO annotations of biological process

Name Definition
membrane fusion The membrane organization process that joins two lipid bilayers to form a single membrane.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6MZZ7 CAPN13 Calpain-13 Homo sapiens (Human) PR
Q9UBV8 PEF1 Peflin Homo sapiens (Human) PR
Q3UW68 Capn13 Calpain-13 Mus musculus (Mouse) PR
Q8BFY6 Pef1 Peflin Mus musculus (Mouse) PR
Q5BK10 Capn13 Calpain-13 Rattus norvegicus (Rat) PR
Q641Z8 Pef1 Peflin Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAYPGYGGGF GNFSIQVPGM QMGQPVPETG PAILLDGYSG PAYSDTYSSA GDSVYTYFSA
70 80 90 100 110 120
VAGQDGEVDA EELQRCLTQS GINGTYSPFS LETCRIMIAM LDRDHTGKMG FNAFKELWAA
130 140 150 160 170 180
LNAWKENFMT VDQDGSGTVE HHELRQAIGL MGYRLSPQTL TTIVKRYSKN GRIFFDDYVA
190 200 210
CCVKLRALTD FFRKRDHLQQ GSANFIYDDF LQGTMAI