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 Q96SN7

Entry ID Method Resolution Chain Position Source
AF-Q96SN7-F1 Predicted AlphaFoldDB

181 variants for Q96SN7

Variant ID(s) Position Change Description Diseaes Association Provenance
CA368693354
rs1217516417
2 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs762289307
CA4412934
2 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA368693410
rs1325646203
3 A>T No ClinGen
gnomAD
rs765364777
CA4412935
5 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4412937
rs375636106
7 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1586709059
CA368693584
10 D>A No ClinGen
Ensembl
CA368693581
rs751764863
10 D>H No ClinGen
ExAC
gnomAD
CA4412939
rs751764863
10 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754858060
CA4412941
11 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA368693647
rs1431521667
12 S>T No ClinGen
gnomAD
rs767396764
CA4412942
13 A>T No ClinGen
ExAC
gnomAD
rs998270514
CA163419675
COSM1635024
13 A>V liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs34947403
VAR_053543
CA4412943
15 A>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1400623556
CA368693774
16 C>Y No ClinGen
gnomAD
rs149749759
CA163419686
17 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4412944
rs149749759
17 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1547506
CA368693843
rs1340787777
19 P>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs201916492
CA4412947
20 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368693882
rs1233265268
21 H>Y No ClinGen
gnomAD
CA4412950
rs769061106
22 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA4412951
rs145092754
23 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748442406
CA4412952
24 M>I No ClinGen
ExAC
gnomAD
rs1032474938
CA163419743
24 M>T No ClinGen
TOPMed
rs764959778
CA163419738
24 M>V No ClinGen
TOPMed
gnomAD
rs1271239276
CA368694023
27 R>Q No ClinGen
gnomAD
CA368694020
rs1191770260
27 R>W No ClinGen
gnomAD
CA368694088
rs1586709171
30 V>A No ClinGen
Ensembl
COSM224944
CA4412953
rs376890782
31 R>C Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368694121
rs1198195830
32 R>C No ClinGen
gnomAD
rs773716007
CA4412954
32 R>H No ClinGen
ExAC
gnomAD
CA368694306
rs1489389741
39 T>A No ClinGen
TOPMed
CA368694302
rs1489389741
39 T>P No ClinGen
TOPMed
COSM72031
CA4412955
rs762973215
40 S>F ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 40 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368694348
rs1586709201
41 N>T No ClinGen
Ensembl
rs766451025
CA4412956
42 H>Y No ClinGen
ExAC
gnomAD
CA4412958
rs759817341
44 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA4412959
rs767488712
46 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs752472055
CA163419787
48 L>V No ClinGen
TOPMed
rs1299952346
CA368694561
COSM1218895
49 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1241078361
CA368694606
51 R>Q No ClinGen
gnomAD
rs1563634517
CA368694602
51 R>W No ClinGen
Ensembl
CA368694633
rs1352718094
52 K>R No ClinGen
gnomAD
rs778467745
CA368694761
57 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1295268010
CA368694799
59 K>Q No ClinGen
TOPMed
CA368694835
rs1209363834
61 K>Q No ClinGen
gnomAD
rs1586709301
CA368694982
66 T>P No ClinGen
Ensembl
rs779621605
CA4412968
68 A>T No ClinGen
ExAC
gnomAD
rs1165818339
CA368695196
74 A>P No ClinGen
gnomAD
CA4412971
rs778181215
75 M>R No ClinGen
ExAC
gnomAD
CA163425156
CA163425155
rs767828985
78 M>I No ClinGen
TOPMed
CA4412992
rs745969579
85 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368698723
rs1257480734
85 T>S No ClinGen
gnomAD
rs1238487367
CA368698737
86 Q>* No ClinGen
gnomAD
rs1364229442
CA368698749
87 Y>H No ClinGen
TOPMed
CA368698755
rs1586716712
87 Y>S No ClinGen
Ensembl
CA4412995
rs760931275
88 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs775898267
CA4412994
88 Q>P No ClinGen
ExAC
gnomAD
rs1586716724
CA368698782
89 Y>S No ClinGen
Ensembl
CA4412998
rs372227034
COSM421655
91 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4412997
rs776485301
91 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs765238790
CA4412999
92 P>L No ClinGen
ExAC
gnomAD
rs1422271642
CA368698814
92 P>S No ClinGen
gnomAD
CA368698829
rs1359615568
93 L>M No ClinGen
gnomAD
CA368698849
rs1465384567
94 L>P No ClinGen
gnomAD
CA368698901
rs1300831890
98 S>G No ClinGen
gnomAD
TCGA novel 98 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142110959
CA4413002
99 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1277716736
CA368698935
100 C>G No ClinGen
gnomAD
rs1225362740
CA368698967
102 T>M No ClinGen
gnomAD
CA368698980
rs1586716809
103 V>G No ClinGen
Ensembl
CA4413006
rs574075338
107 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA368699064
rs779595593
111 A>S No ClinGen
ExAC
gnomAD
CA4413009
rs779595593
111 A>T No ClinGen
ExAC
gnomAD
CA163425270
rs946046249
112 L>V No ClinGen
TOPMed
gnomAD
rs780272783
CA4413012
114 I>V No ClinGen
ExAC
gnomAD
CA368699120
rs1173764567
115 S>N No ClinGen
gnomAD
CA368699130
rs1586716888
116 T>P No ClinGen
Ensembl
CA368699165
rs1420010074
118 I>T No ClinGen
gnomAD
CA368699188
rs1267337471
120 P>S No ClinGen
TOPMed
rs768932841
CA4413014
121 N>I No ClinGen
ExAC
gnomAD
rs1358801241
CA368699223
123 E>K No ClinGen
gnomAD
CA368699259
rs1586716922
125 V>G No ClinGen
Ensembl
CA4413015
rs776663542
125 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA4413016
rs563177670
132 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1367582385
CA368699359
132 N>S No ClinGen
gnomAD
CA368699356
rs1367582385
132 N>T No ClinGen
gnomAD
CA4413019
rs762863120
134 I>T No ClinGen
ExAC
gnomAD
rs773182234
CA4413018
134 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4413020
rs765940069
136 E>K No ClinGen
ExAC
gnomAD
TCGA novel 137 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4413021
rs773916186
138 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs199552953
CA368699444
139 H>P No ClinGen
1000Genomes
gnomAD
CA368699447
rs1488155106
139 H>Q No ClinGen
gnomAD
CA163425317
rs199552953
139 H>R No ClinGen
1000Genomes
gnomAD
CA4413023
rs373008522
140 E>V No ClinGen
ESP
ExAC
gnomAD
COSM1446877
CA4413024
rs752254400
141 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368699486
rs1289497073
142 M>I No ClinGen
TOPMed
gnomAD
CA4413026
rs765678218
142 M>R No ClinGen
ExAC
gnomAD
rs757681744
CA4413025
142 M>V No ClinGen
ExAC
gnomAD
CA368699499
rs1331590762
143 H>L No ClinGen
TOPMed
rs1331590762
CA368699498
143 H>P No ClinGen
TOPMed
TCGA novel 144 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1407275676
CA368699537
145 Y>C No ClinGen
gnomAD
rs938359890
CA163425338
146 I>V No ClinGen
Ensembl
CA4413028
rs758973216
147 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA368699568
rs1349369932
147 E>K No ClinGen
TOPMed
gnomAD
rs1333969147
CA368699661
152 F>S No ClinGen
gnomAD
CA4413031
rs369139105
155 V>M No ClinGen
ESP
ExAC
gnomAD
CA368699767
rs1229671222
159 L>P No ClinGen
gnomAD
rs1450549028
CA368699794
161 F>S No ClinGen
gnomAD
rs1458135670
CA368699828
164 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1164055139
CA368699890
172 K>N No ClinGen
gnomAD
rs1183795726
CA368699902
174 L>F No ClinGen
TOPMed
gnomAD
CA4413036
rs749014730
174 L>R No ClinGen
ExAC
gnomAD
CA4413037
rs770868690
175 P>L No ClinGen
ExAC
gnomAD
rs185291449
CA4413038
176 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368699925
rs1446678618
178 A>D No ClinGen
gnomAD
CA4413039
rs201783515
178 A>T No ClinGen
1000Genomes
ExAC
CA4413041
rs766552086
179 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4413040
rs146137368
179 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760393100
CA4413042
180 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs373392032
CA4413043
COSM1218894
180 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA368699948
rs1162288359
182 P>L No ClinGen
TOPMed
gnomAD
CA163425462
rs1031595730
184 P>L No ClinGen
Ensembl
CA368699955
rs1318593721
184 P>T No ClinGen
gnomAD
CA163425469
rs766937231
185 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA368699964
rs766937231
185 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4413046
rs766937231
185 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs755131372
CA368699966
186 P>S No ClinGen
ExAC
gnomAD
CA4413048
rs755131372
186 P>T No ClinGen
ExAC
gnomAD
CA4413049
rs781117706
188 P>S No ClinGen
ExAC
gnomAD
CA368699988
rs1471916681
190 S>G No ClinGen
gnomAD
TCGA novel 191 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777914063
CA4413052
192 T>A No ClinGen
ExAC
gnomAD
rs751979726
CA4413053
192 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA368700016
rs1364942912
194 W>* No ClinGen
TOPMed
CA163425534
rs539030215
195 Q>L No ClinGen
gnomAD
rs965051431
CA163425541
196 A>T No ClinGen
TOPMed
gnomAD
CA4413055
rs778950283
197 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1188954926
CA368700040
198 L>V No ClinGen
TOPMed
rs771672896
CA4413057
199 V>L No ClinGen
ExAC
gnomAD
rs1412527471
CA368700060
201 T>I No ClinGen
gnomAD
rs1563639191
CA368700069
203 I>V No ClinGen
Ensembl
CA163425570
CA163425584
rs973528230
204 M>I No ClinGen
TOPMed
CA4413059
rs760199107
205 V>A No ClinGen
ExAC
gnomAD
CA163425589
rs981766695
205 V>L No ClinGen
TOPMed
gnomAD
rs149386719
CA4413062
207 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368700110
rs1484850225
210 I>V No ClinGen
gnomAD
CA4413065
rs759954382
212 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA4413066
rs768000803
214 F>S No ClinGen
ExAC
CA4413068
rs756139303
215 T>P No ClinGen
ExAC
gnomAD
rs754030552
CA4413070
216 I>T No ClinGen
ExAC
gnomAD
CA163425650
rs946015117
218 F>L No ClinGen
TOPMed
CA4413072
rs778562970
220 R>C No ClinGen
ExAC
gnomAD
rs745888656
CA4413073
220 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4413074
rs771911609
224 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA163425698
rs779988736
224 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs779988736
CA4413075
224 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA368700221
COSM1446880
rs1563639327
227 T>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1040370027
CA163425734
229 R>C No ClinGen
TOPMed
CA163425739
rs1055285588
229 R>H No ClinGen
TOPMed
gnomAD
rs1488067898
CA368700236
230 H>Y No ClinGen
gnomAD
rs776469929
CA4413078
231 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA4413080
rs771392636
232 R>C No ClinGen
ExAC
gnomAD
rs894171726
CA163425764
232 R>H No ClinGen
gnomAD
rs1393747824
CA368700253
233 E>K No ClinGen
TOPMed
gnomAD
CA4413083
rs367893276
235 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368700277
rs1380574411
236 E>* No ClinGen
gnomAD
rs1418696781
CA368700280
236 E>V No ClinGen
gnomAD
rs1286677677
CA368700319
242 V>I No ClinGen
gnomAD
rs760784577
CA4413085
245 D>E No ClinGen
ExAC
gnomAD
CA368700340
rs1315172714
245 D>Y No ClinGen
gnomAD
CA4413086
rs764137329
246 G>E No ClinGen
ExAC
gnomAD
CA368700346
CA368700345
rs1448769482
246 G>R No ClinGen
gnomAD
rs1563639428
CA368700360
248 E>Q No ClinGen
Ensembl
CA368700378
rs1237151622
249 R>C No ClinGen
gnomAD
CA4413087
rs754118697
249 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA368700385
rs754118697
249 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs757418933
CA4413088
252 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 252 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q96SN7

No regional properties for Q96SN7

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96SN7

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Colocalizes with STIM1 upon store depletion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
growth cone The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

1 GO annotations of molecular function

Name Definition
store-operated calcium channel activity A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores.

1 GO annotations of biological process

Name Definition
store-operated calcium entry A calcium ion entry mechanism in the plasma membrane activated by the depletion of calcium ion from the internal calcium ion store in the endoplasmic reticulum.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q96D31 ORAI1 Calcium release-activated calcium channel protein 1 Homo sapiens (Human) PR
Q8BWG9 Orai1 Calcium release-activated calcium channel protein 1 Mus musculus (Mouse) PR
Q8BH10 Orai2 Protein orai-2 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSAELNVPID PSAPACPEPG HKGMDYRDWV RRSYLELVTS NHHSVQALSW RKLYLSRAKL
70 80 90 100 110 120
KASSRTSALL SGFAMVAMVE VQLETQYQYP RPLLIAFSAC TTVLVAVHLF ALLISTCILP
130 140 150 160 170 180
NVEAVSNIHN LNSISESPHE RMHPYIELAW GFSTVLGILL FLAEVVLLCW IKFLPVDARR
190 200 210 220 230 240
QPGPPPGPGS HTGWQAALVS TIIMVPVGLI FVVFTIHFYR SLVRHKTERH NREIEELHKL
250
KVQLDGHERS LQVL