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

7 structures for Q7LC44

Entry ID Method Resolution Chain Position Source
6TN7 X-ray 167 A B 277-370 PDB
6TNQ X-ray 130 A A/C/E 207-277 PDB
6TQ0 X-ray 195 A A/C/E/G/I/K/M/O 207-277 PDB
6YTU X-ray 095 A A/B 99-132 PDB
7R1Z X-ray 194 A A 206-361 PDB
7R23 X-ray 277 A A 206-361 PDB
AF-Q7LC44-F1 Predicted AlphaFoldDB

305 variants for Q7LC44

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1270568526
CA372384285
4 D>E No ClinGen
gnomAD
rs1426065219
CA372384266
6 R>W No ClinGen
gnomAD
rs587734255
CA372384227
8 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752423065
CA4903020
10 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs965493850
CA187425665
11 L>V No ClinGen
Ensembl
CA372384133
rs1389428507
15 P>L No ClinGen
TOPMed
rs1249759779
CA372384103
17 P>L No ClinGen
gnomAD
CA4903018
rs756282396
17 P>S No ClinGen
ExAC
gnomAD
rs1340010362
CA372384101
18 R>G No ClinGen
gnomAD
rs750662635
CA4903017
18 R>P No ClinGen
ExAC
gnomAD
rs767605928
CA4903016
19 G>C No ClinGen
ExAC
CA372384085
rs1230875412
19 G>D No ClinGen
gnomAD
CA372384080
rs1283578932
20 G>R No ClinGen
gnomAD
CA372384049
rs1587491909
21 Q>L No ClinGen
Ensembl
rs1587491901
CA372384034
22 V>G No ClinGen
Ensembl
rs752097434
CA4903014
22 V>M No ClinGen
ExAC
gnomAD
rs1229595790
CA372383979
26 N>S No ClinGen
gnomAD
CA372383964
rs1295390020
27 V>M No ClinGen
TOPMed
rs1033218604
CA187425653
28 I>V No ClinGen
TOPMed
CA372383912
rs1318506929
30 Q>K No ClinGen
gnomAD
CA4903011
rs775945249
37 E>Q No ClinGen
ExAC
gnomAD
CA372383648
rs1428823666
38 M>I No ClinGen
gnomAD
CA372383678
rs1468616465
38 M>K No ClinGen
TOPMed
gnomAD
CA372383671
rs1468616465
38 M>T No ClinGen
TOPMed
gnomAD
CA187425633
rs1000029399
39 L>R No ClinGen
TOPMed
CA187425619
rs1010180504
40 E>* No ClinGen
Ensembl
CA372383561
rs1177372788
42 V>M No ClinGen
gnomAD
rs1438316775
CA372383507
44 R>Q No ClinGen
gnomAD
rs1181187493
CA372383515
44 R>W No ClinGen
gnomAD
CA372383481
rs1468904354
45 T>M No ClinGen
TOPMed
rs776211237
CA4903008
47 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA372383453
rs776211237
47 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4903007
rs138879893
49 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4903004
rs771957879
53 V>M No ClinGen
ExAC
gnomAD
rs1278372103
CA372383336
54 S>F No ClinGen
gnomAD
rs1239211385
CA372383291
56 Q>P No ClinGen
gnomAD
CA4903003
rs748107047
57 V>M No ClinGen
ExAC
gnomAD
CA372383253
rs1416639608
58 E>G No ClinGen
TOPMed
rs1451137469
CA372383229
COSM3698861
59 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA4903001
rs754809780
65 H>L No ClinGen
ExAC
gnomAD
rs371846206
CA187425564
65 H>Q No ClinGen
ExAC
gnomAD
rs1470579436
CA372383095
66 R>Q No ClinGen
TOPMed
gnomAD
CA4902999
rs757517795
66 R>W No ClinGen
ExAC
gnomAD
COSM1183323
CA372383071
rs1587491773
68 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1181633544
CA372383045
69 G>A No ClinGen
gnomAD
CA372383032
rs1443955798
70 K>T No ClinGen
gnomAD
CA4902997
rs751531647
72 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1283180139
CA372382936
74 N>D No ClinGen
gnomAD
rs145645912
CA4902995
77 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372382871
rs764286977
77 G>R No ClinGen
ExAC
gnomAD
CA4902996
rs764286977
77 G>S No ClinGen
ExAC
gnomAD
CA372382833
rs1563776832
78 Y>F No ClinGen
Ensembl
CA372382857
rs1355135629
78 Y>H No ClinGen
TOPMed
CA4902993
rs765690457
79 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs753294130
CA4902994
79 V>M No ClinGen
ExAC
gnomAD
CA4902992
rs759874303
81 T>M No ClinGen
ExAC
gnomAD
CA372382750
rs1454966876
82 S>R No ClinGen
gnomAD
CA4902991
rs777065602
84 S>L No ClinGen
ExAC
gnomAD
rs1401531397
CA372382672
85 Q>H No ClinGen
gnomAD
rs1387167859
CA372382661
86 R>C No ClinGen
gnomAD
CA372382646
rs1335513085
87 W>G No ClinGen
TOPMed
rs770423305
CA4902990
89 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA372382592
rs770423305
89 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs937053011
CA187425509
90 S>F No ClinGen
TOPMed
gnomAD
CA372382562
rs1186822315
91 I>V No ClinGen
TOPMed
rs1474326952
CA372382513
93 A>T No ClinGen
gnomAD
CA372382493
rs1474056546
94 C>R No ClinGen
TOPMed
rs1193395488
CA372382416
97 R>C No ClinGen
gnomAD
CA372382412
rs1218485440
97 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1218485440
CA372382406
97 R>L No ClinGen
TOPMed
rs778496793
CA187425508
98 C>S No ClinGen
Ensembl
CA372382266
rs771620864
103 A>S No ClinGen
ExAC
gnomAD
CA4902987
rs771620864
103 A>T Variant assessed as Somatic; 5.501e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA372382218
rs1359337112
106 E>K No ClinGen
gnomAD
CA372382181
rs587756427
107 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA187425491
rs587756427
107 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA372382171
rs1248577625
107 R>H No ClinGen
gnomAD
CA4902986
rs587756427
107 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA372382149
rs1360259714
108 W>* No ClinGen
gnomAD
rs1269999644
CA372381243
110 K>* No ClinGen
gnomAD
TCGA novel 110 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1343876488
CA372381228
111 R>C No ClinGen
TOPMed
CA4902985
COSM1455264
rs774341447
111 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA372381223
rs774341447
111 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4902984
rs199521561
113 M>I No ClinGen
ExAC
gnomAD
rs1301368690
CA372381201
113 M>K No ClinGen
gnomAD
rs369013371
CA187425471
116 W>C No ClinGen
ESP
TOPMed
gnomAD
CA372381117
rs1295306970
120 F>V No ClinGen
TOPMed
rs1356202934
CA372381094
121 Y>C No ClinGen
TOPMed
COSM1489064
CA372381048
rs1266406700
125 R>C Variant assessed as Somatic; 7.967e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1198036851
CA372381044
125 R>L No ClinGen
TOPMed
gnomAD
CA372381015
rs1270448410
128 D>N No ClinGen
gnomAD
CA372380978
rs1279407742
133 T>R No ClinGen
TOPMed
CA187425425
rs1036190729
135 G>S No ClinGen
TOPMed
gnomAD
CA372380961
rs1215593201
136 K>R No ClinGen
gnomAD
CA372380952
rs1469183116
137 Y>C No ClinGen
TOPMed
rs758614505
CA4902978
141 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs758614505
CA372380930
141 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA372380918
rs1223166061
142 E>D No ClinGen
gnomAD
rs753240952
CA4902977
143 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1305047419
CA372380910
144 A>P No ClinGen
TOPMed
gnomAD
CA372380909
rs1305047419
144 A>S No ClinGen
TOPMed
gnomAD
CA372380904
rs867095273
145 R>C No ClinGen
gnomAD
CA372380900
rs1563776753
145 R>L No ClinGen
Ensembl
rs1563776753
CA372380901
145 R>P No ClinGen
Ensembl
CA187425384
rs867095273
145 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1563776747
CA372380896
146 H>R No ClinGen
Ensembl
rs765780465
CA4902976
146 H>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 147 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs931618958
CA372380885
148 V>F No ClinGen
gnomAD
CA187425378
rs931618958
148 V>I No ClinGen
gnomAD
CA187425355
rs922561519
150 V>M No ClinGen
TOPMed
gnomAD
rs1174978220
CA372380858
153 G>W No ClinGen
gnomAD
rs766788440
CA372380849
154 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs766788440
CA4902973
154 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA372380844
rs1563776740
155 P>R No ClinGen
Ensembl
rs1375598780
CA372380835
156 E>D No ClinGen
TOPMed
rs1240842464
CA372380829
157 S>N No ClinGen
TOPMed
CA4902970
rs767012127
158 Y>H No ClinGen
ExAC
gnomAD
CA372380794
rs1223072865
161 E>D No ClinGen
TOPMed
gnomAD
CA4902969
rs761373281
161 E>K No ClinGen
ExAC
gnomAD
rs1303498205
CA372380791
162 A>E No ClinGen
gnomAD
rs773867649
CA4902968
162 A>T No ClinGen
ExAC
gnomAD
rs2234911
CA372380782
163 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1372504701
CA372380788
163 D>N No ClinGen
gnomAD
CA4902967
rs768517487
163 D>V No ClinGen
ExAC
gnomAD
rs1403566740
CA372380779
164 G>C No ClinGen
gnomAD
rs1436919893
CA372380778
164 G>D No ClinGen
TOPMed
rs769666928
CA4902965
165 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4902963
rs747190210
166 D>G No ClinGen
ExAC
CA372380768
rs1201978742
166 D>N No ClinGen
TOPMed
rs1469934532
CA372380757
167 Y>S No ClinGen
gnomAD
rs868521724
CA187425233
168 T>I No ClinGen
Ensembl
rs587657838
CA187425251
168 T>P No ClinGen
1000Genomes
CA4902960
rs748171375
169 V>I No ClinGen
ExAC
gnomAD
rs1178233108
CA372380720
173 A>S No ClinGen
TOPMed
gnomAD
CA372380722
rs1178233108
173 A>T No ClinGen
TOPMed
gnomAD
CA372380717
rs1436849056
173 A>V No ClinGen
gnomAD
CA372380707
rs1442100907
175 T>N No ClinGen
gnomAD
rs865823047
CA187425185
175 T>P No ClinGen
Ensembl
rs779165064
CA4902959
176 P>L No ClinGen
ExAC
gnomAD
CA4902958
rs755391698
177 P>S No ClinGen
ExAC
gnomAD
rs766622368
CA4902957
178 P>A No ClinGen
ExAC
gnomAD
rs766622368
CA4902956
178 P>S No ClinGen
ExAC
gnomAD
TCGA novel 179 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262375538
CA372380683
180 A>P No ClinGen
TOPMed
gnomAD
CA372380684
rs1262375538
180 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA372380678
rs1316368950
181 G>S No ClinGen
gnomAD
CA4902952
rs761462672
182 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs199735061
CA4902948
185 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1286798419
CA372380630
188 P>H No ClinGen
TOPMed
gnomAD
rs1286798419
CA372380628
188 P>L No ClinGen
TOPMed
gnomAD
CA372380627
rs1345207161
189 A>T No ClinGen
gnomAD
TCGA novel 190 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372380621
rs1160664504
190 E>K No ClinGen
gnomAD
CA187425149
rs969355649
194 Y>C No ClinGen
Ensembl
CA372380582
rs1422057886
195 Q>* No ClinGen
gnomAD
rs199916173
CA372380564
196 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199916173
CA4902946
196 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA372380569
rs1383993121
196 P>S No ClinGen
gnomAD
rs1258733125
CA372380547
197 W>C No ClinGen
gnomAD
TCGA novel 200 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1485671243
CA372380518
200 G>D No ClinGen
gnomAD
CA4902945
rs776582573
200 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA4902944
rs140481166
202 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372380482
CA187425133
rs372418087
203 G>R No ClinGen
ESP
TOPMed
gnomAD
rs748412721
CA4902943
204 Q>E No ClinGen
ExAC
rs1250593894
CA372380465
204 Q>H No ClinGen
TOPMed
CA4902942
rs768828786
204 Q>L No ClinGen
ExAC
gnomAD
CA4902941
rs768828786
204 Q>R No ClinGen
ExAC
gnomAD
CA372380448
rs1291008401
205 P>L No ClinGen
gnomAD
CA187425119
rs749743916
207 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA4902940
rs749743916
207 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA372380406
rs1336602149
209 V>L No ClinGen
TOPMed
gnomAD
CA4902937
rs750725106
210 D>N No ClinGen
ExAC
gnomAD
CA4902936
rs781555606
212 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA372380323
rs1421830302
215 E>* No ClinGen
TOPMed
rs751266915
CA4902934
217 P>S No ClinGen
ExAC
gnomAD
rs763502872
CA4902933
218 R>Q No ClinGen
ExAC
gnomAD
CA372380218
rs1370501987
223 H>Y No ClinGen
gnomAD
TCGA novel 224 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM205523
rs368167896
CA372380142
229 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA4902930
rs201562490
231 V>G No ClinGen
ExAC
gnomAD
CA372380118
rs1392343612
231 V>M No ClinGen
TOPMed
TCGA novel 232 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1324081004
CA372380091
233 G>C No ClinGen
TOPMed
TCGA novel 239 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4902926
rs201238711
240 S>A No ClinGen
ExAC
rs74348901
CA187425012
240 S>C No ClinGen
Ensembl
TCGA novel 240 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4902925
rs774691009
241 Q>K No ClinGen
ExAC
gnomAD
CA372379981
rs1489426720
241 Q>R No ClinGen
gnomAD
CA372379928
rs1428311753
245 H>Y No ClinGen
TOPMed
CA187425006
rs112306578
248 G>E No ClinGen
gnomAD
rs1361680452
CA372379883
248 G>R No ClinGen
gnomAD
CA372379670
rs1221342648
261 V>L No ClinGen
gnomAD
rs1221342648
CA372379674
261 V>M No ClinGen
gnomAD
CA372379640
rs1344266287
262 K>N No ClinGen
gnomAD
CA4902920
rs746402173
263 N>D No ClinGen
ExAC
gnomAD
TCGA novel 267 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781518844
CA4902919
272 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA4902915
rs758002181
276 E>D No ClinGen
ExAC
gnomAD
rs751211937
CA4902917
276 E>K No ClinGen
ExAC
gnomAD
rs1479586907
CA372379387
277 G>D No ClinGen
gnomAD
rs370545261
CA4902914
277 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1563776587
CA372379372
278 T>M No ClinGen
Ensembl
CA372379309
rs1191566837
284 I>N No ClinGen
TOPMed
CA372379286
rs988806388
286 R>G No ClinGen
gnomAD
rs1480815830
CA372379283
286 R>H No ClinGen
gnomAD
rs988806388
COSM1096848
CA187424934
286 R>S Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1201319514
CA372379269
287 E>G No ClinGen
gnomAD
CA4902908
rs772885468
289 D>A No ClinGen
ExAC
gnomAD
CA4902909
rs760612016
289 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs763103743
CA4902906
291 P>L No ClinGen
ExAC
gnomAD
TCGA novel 291 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372379186
rs1468425944
294 Q>E No ClinGen
gnomAD
rs746365444
CA4902903
294 Q>R No ClinGen
ExAC
gnomAD
CA372379138
rs1587491153
297 P>L No ClinGen
Ensembl
CA372379147
rs1479069599
297 P>T No ClinGen
gnomAD
CA372379125
rs1180933281
299 D>N No ClinGen
gnomAD
TCGA novel 301 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 303 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758031109
CA4902898
304 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA372379057
rs587767434
304 R>H No ClinGen
1000Genomes
gnomAD
CA187424796
rs587767434
304 R>L No ClinGen
1000Genomes
gnomAD
rs1320110923
CA372379044
305 K>R No ClinGen
TOPMed
CA372379036
rs1460591873
306 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 307 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 310 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372378932
rs1171388183
314 V>A No ClinGen
Ensembl
rs753822447
CA4902895
314 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs753822447
CA4902894
314 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs587711195
CA372378911
315 D>E No ClinGen
1000Genomes
TOPMed
gnomAD
rs756131769
CA4902892
316 A>S No ClinGen
ExAC
gnomAD
CA4902890
rs767244388
317 D>G No ClinGen
ExAC
gnomAD
rs887722830
CA187424744
318 E>K No ClinGen
Ensembl
rs763198702
CA372378738
324 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA372378713
rs1203872774
326 V>L No ClinGen
TOPMed
rs1563776532
CA372378690
327 G>D No ClinGen
Ensembl
rs1288649487
CA372378619
331 P>L No ClinGen
TOPMed
CA372378632
rs1382268510
331 P>T No ClinGen
gnomAD
rs775636351
CA372378588
333 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs775636351
CA4902888
333 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA4902886
rs759548098
335 R>C No ClinGen
ExAC
gnomAD
CA187424728
rs776707820
335 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4902885
rs776707820
335 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4902887
rs759548098
335 R>S No ClinGen
ExAC
gnomAD
rs202009326
COSM50582
CA4902882
338 R>C breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4902881
rs754781408
338 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs202009326
CA372378494
338 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs747822194
CA4902880
339 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 340 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 341 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748747847
CA4902877
343 K>R No ClinGen
ExAC
gnomAD
rs926055055
CA187424702
348 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 348 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372378329
rs1452919121
349 I>N No ClinGen
Ensembl
rs776073711
CA4902874
353 M>T No ClinGen
ExAC
gnomAD
rs1359107496
CA372378256
353 M>V No ClinGen
TOPMed
gnomAD
rs1040102351
CA187424689
354 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA372378186
rs1450390676
356 Q>* No ClinGen
gnomAD
CA372378172
rs1310712023
357 D>Y No ClinGen
TOPMed
TCGA novel 360 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372378014
rs1396235029
363 A>V No ClinGen
TOPMed
COSM2867622
CA4902869
rs759778933
364 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4902868
rs753876529
365 P>A No ClinGen
ExAC
gnomAD
CA4902867
rs373236073
365 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA187424652
rs373236073
365 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772479980
CA4902864
367 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA372377955
rs1439783366
367 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4902863
rs762016127
369 H>R No ClinGen
ExAC
gnomAD
rs1488960239
CA372377883
371 P>L No ClinGen
gnomAD
CA4902859
rs779675780
372 V>A No ClinGen
ExAC
gnomAD
CA4902860
rs376687795
372 V>L No ClinGen
ESP
ExAC
gnomAD
rs376687795
CA187424627
372 V>M No ClinGen
ESP
ExAC
gnomAD
CA4902858
rs769231970
373 E>K No ClinGen
ExAC
gnomAD
rs372892204
CA4902857
374 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4902856
rs780927796
376 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1466266396
CA372377786
379 L>F No ClinGen
TOPMed
rs371921712
CA372377780
380 T>K No ClinGen
TOPMed
gnomAD
rs371921712
CA187424595
380 T>M No ClinGen
TOPMed
gnomAD
rs371921712
CA372377778
380 T>R No ClinGen
TOPMed
gnomAD
CA4902854
rs375709912
380 T>S No ClinGen
ESP
ExAC
gnomAD
rs777576732
CA4902853
381 P>R No ClinGen
ExAC
gnomAD
CA4902850
rs766434970
382 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs766434970
CA372377762
382 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs766434970
CA4902851
382 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4902849
rs760732074
382 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs750521419
CA4902848
383 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA4902846
rs1478604335
384 N>D No ClinGen
gnomAD
rs1426502315
CA372377736
384 N>K No ClinGen
gnomAD
CA372377728
rs1198142862
385 S>N No ClinGen
gnomAD
CA372377706
rs1224200466
386 E>D No ClinGen
gnomAD
CA372377716
rs1247856381
386 E>K No ClinGen
gnomAD
CA4902843
rs774812713
388 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA372377679
rs1320277133
389 A>P No ClinGen
TOPMed
gnomAD
CA372377680
rs1320277133
389 A>T No ClinGen
TOPMed
gnomAD
rs775336464
CA372377636
392 R>P No ClinGen
ExAC
gnomAD
rs775336464
CA4902840
392 R>Q No ClinGen
ExAC
gnomAD
CA4902841
COSM4006857
rs762668132
392 R>W Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA372377612
rs1276499964
394 Q>R No ClinGen
gnomAD
CA4902839
rs769495014
395 P>L No ClinGen
ExAC
gnomAD
CA187424556
rs917971005
395 P>T No ClinGen
gnomAD
rs1466856033
CA372377595
396 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA187424544
rs111386954
397 E>K No ClinGen
Ensembl

No associated diseases with Q7LC44

1 regional properties for Q7LC44

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 85 - 544 IPR017452

Functions

Description
EC Number
Subcellular Localization
  • Extracellular vesicle membrane ; Lipid-anchor
  • Postsynaptic cell membrane ; Lipid-anchor
  • Synapse
  • Postsynaptic density
  • Early endosome membrane
  • Cell projection, dendrite
  • Cytoplasm, cytoskeleton
  • Cytoplasm, cell cortex
  • Cell projection, dendritic spine
  • Cytoplasmic vesicle, secretory vesicle, acrosome
  • Cytoplasmic vesicle, clathrin-coated vesicle membrane
  • Forms virion-like extracellular vesicles that are released from neurons
  • Enriched in postsynaptic density of dendritic spines
  • Targeted to inactive synapses following interaction with CAMK2B in the kinase inactive state
  • Accumulation at weaker synapses may be required to prevent their undesired enhancement
  • Associated with the cell cortex of neuronal soma and dendrites (By similarity)
  • Associated with the sperm tail (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

16 GO annotations of cellular component

Name Definition
acrosomal vesicle A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
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.
dendritic spine A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
early endosome membrane The lipid bilayer surrounding an early endosome.
extracellular vesicle Any vesicle that is part of the extracellular region.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
neuronal ribonucleoprotein granule A ribonucleoprotein complex that is found in the cytoplasm of axons and dendrites, and transports translationally silenced mRNAs to dendritic synapses, where they are released and translated in response to specific exogenous stimuli.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density membrane The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated.
postsynaptic endosome An endosomal compartment that is part of the post-synapse. Only early and recycling endosomes are typically present in the postsynapse.

1 GO annotations of molecular function

Name Definition
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.

20 GO annotations of biological process

Name Definition
anterior/posterior pattern specification The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
dendritic spine morphogenesis The process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
endoderm development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues.
learning Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
long-term memory The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation.
long-term synaptic potentiation A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse.
modulation of chemical synaptic transmission Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.
mRNA transport The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
positive regulation of AMPA receptor activity Any process that activates or increases the frequency, rate or extent of AMPA selective glutamate receptor activity.
protein homooligomerization The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
regulation of cell morphogenesis Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized.
regulation of dendritic spine morphogenesis Any process that modulates the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
regulation of long-term synaptic depression Any process that modulates the frequency, rate or extent of long term synaptic depression.
regulation of long-term synaptic potentiation Any process that modulates the frequency, rate or extent of long-term synaptic potentiation.
regulation of neuronal synaptic plasticity A process that modulates neuronal synaptic plasticity, the ability of neuronal synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
regulation of postsynaptic neurotransmitter receptor internalization Any process that modulates the frequency, rate or extent of endocytosis of neurotransmitter receptor at the postsynapse.
vesicle-mediated intercellular transport A cellular transport process in which transported substances are moved in extracellular vesicles between cells; transported substances are enclosed in the vesicle lumen or located in the extracellular vesicle membrane.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8AWC3 ARC Activity-regulated cytoskeleton-associated protein Gallus gallus (Chicken) PR
Q9WV31 Arc Activity-regulated cytoskeleton-associated protein Mus musculus (Mouse) PR
Q63053 Arc Activity-regulated cytoskeleton-associated protein Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MELDHRTSGG LHAYPGPRGG QVAKPNVILQ IGKCRAEMLE HVRRTHRHLL AEVSKQVERE
70 80 90 100 110 120
LKGLHRSVGK LESNLDGYVP TSDSQRWKKS IKACLCRCQE TIANLERWVK REMHVWREVF
130 140 150 160 170 180
YRLERWADRL ESTGGKYPVG SESARHTVSV GVGGPESYCH EADGYDYTVS PYAITPPPAA
190 200 210 220 230 240
GELPGQEPAE AQQYQPWVPG EDGQPSPGVD TQIFEDPREF LSHLEEYLRQ VGGSEEYWLS
250 260 270 280 290 300
QIQNHMNGPA KKWWEFKQGS VKNWVEFKKE FLQYSEGTLS REAIQRELDL PQKQGEPLDQ
310 320 330 340 350 360
FLWRKRDLYQ TLYVDADEEE IIQYVVGTLQ PKLKRFLRHP LPKTLEQLIQ RGMEVQDDLE
370 380 390
QAAEPAGPHL PVEDEAETLT PAPNSESVAS DRTQPE