Descriptions

PRCKA-binding protein (PICK1) is a modular scaffold protein that regulates the activity and trafficking of several neural proteins. The membrane vesiculation capacity of the BAR domain is autoinhibited by PDZ and an acidic C-terminal tail (ACT). Upon deletion of ACT or PDZ domain, PICK1 clusters on vesicle-like structures that colocalize with the trans-Golgi network marker TGN38, driven by BAR domain. The ACT of one subunit of the PICK1 homodimer interacts with the PDZ and BAR domains of the other subunit. The autoinhibition is released by the binding of PDZ domain to receptor proteins or

Autoinhibitory domains (AIDs)

Target domain

147-355 (BAR domain)

Relief mechanism

Partner binding

Assay

Deletion assay, Structural analysis

Target domain

147-355 (BAR domain)

Relief mechanism

Partner binding

Assay

Deletion assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

5 structures for Q9NRD5

Entry ID Method Resolution Chain Position Source
2GZV X-ray 112 A A 19-105 PDB
6AR4 X-ray 169 A A/B 1-105 PDB
6BJN X-ray 243 A A/B 1-105 PDB
6BJO X-ray 175 A A/B 1-105 PDB
AF-Q9NRD5-F1 Predicted AlphaFoldDB

311 variants for Q9NRD5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1601933264
CA411507155
3 A>V No ClinGen
Ensembl
CA10228988
rs200693534
7 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 9 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1331717911
CA411507267
10 E>K No ClinGen
gnomAD
TCGA novel 11 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA324179862
rs757672073
12 D>G No ClinGen
Ensembl
rs758299374
CA10228990
13 K>R No ClinGen
ExAC
gnomAD
rs777592756
CA10228991
14 L>F No ClinGen
ExAC
gnomAD
rs746762898
CA10228992
14 L>R No ClinGen
ExAC
CA324180849
COSM3723048
rs889163499
15 G>R upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA411507817
rs1346856836
15 G>V No ClinGen
TOPMed
CA10229005
rs529594848
17 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA411507844
rs529594848
17 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1011662250
CA324180852
17 P>S No ClinGen
Ensembl
CA411507907
rs1343298477
22 K>R No ClinGen
TOPMed
rs1330468417
CA411507934
24 T>S No ClinGen
TOPMed
CA324180868
rs144230832
26 Q>E No ClinGen
ESP
TOPMed
gnomAD
CA10229007
rs752748202
28 D>G No ClinGen
ExAC
gnomAD
CA411507985
rs1267916199
28 D>N No ClinGen
gnomAD
CA10229008
rs758384023
29 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1376915390
CA411507996
29 A>V No ClinGen
gnomAD
rs5756896
CA10229009
30 Q>H No ClinGen
ExAC
TOPMed
gnomAD
COSM3673279 31 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA10229011
rs375001291
33 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411508020
rs1421037201
33 I>N No ClinGen
gnomAD
rs1375257084
CA411508026
34 G>E No ClinGen
gnomAD
rs1200286749
CA411508025
34 G>R No ClinGen
TOPMed
CA411508044
rs1393471162
36 S>G No ClinGen
gnomAD
rs914780868
CA324180888
37 I>T No ClinGen
TOPMed
CA411508081
rs1449682473
38 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 42 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA411508162
rs1323301759
44 C>R No ClinGen
gnomAD
CA411508166
rs1327458589
44 C>Y No ClinGen
gnomAD
CA411508257
rs1276478116
50 V>F No ClinGen
gnomAD
rs1601944373
CA411509044
56 T>P No ClinGen
Ensembl
rs1277258113
CA411509048
56 T>S No ClinGen
TOPMed
CA324191387
rs373401475
59 A>V No ClinGen
ESP
TOPMed
rs751472759
CA10229028
62 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs780886922
CA10229030
63 T>I No ClinGen
ExAC
gnomAD
rs755889746
CA10229032
66 A>G No ClinGen
ExAC
gnomAD
rs1360359047
CA411509164
68 D>N No ClinGen
TOPMed
gnomAD
rs1450330922
CA411509181
69 E>* No ClinGen
TOPMed
COSM3842672 69 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3554324 71 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA10229036
rs144498214
72 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144498214
CA10229037
72 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10229038
rs771440049
74 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1307843872
CA411509246
76 R>T No ClinGen
gnomAD
CA10229041
rs770073408
77 S>* No ClinGen
ExAC
gnomAD
CA10229040
rs759886998
77 S>A No ClinGen
ExAC
gnomAD
rs1306797006
CA411509256
78 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM1416214
rs868326767
CA324191416
82 T>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA Cosmic
CA411509311
rs1601944546
84 V>G No ClinGen
Ensembl
CA411509305
rs763111317
84 V>L No ClinGen
ExAC
gnomAD
rs763111317
CA10229043
84 V>M No ClinGen
ExAC
gnomAD
CA324191438
rs908750329
86 V>G No ClinGen
Ensembl
CA10229044
rs764110971
87 A>V No ClinGen
ExAC
gnomAD
CA324191490
rs767008199
89 M>V No ClinGen
Ensembl
CA324191497
rs1043621768
93 V>A No ClinGen
Ensembl
rs768613937
CA10229046
93 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1353828266
CA411509726
95 G>A No ClinGen
gnomAD
COSM3554326 96 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774355038
CA411509735
96 E>D No ClinGen
ExAC
gnomAD
rs1601948536
CA411509741
97 V>G No ClinGen
Ensembl
rs767430648
CA10229064
98 T>P No ClinGen
ExAC
gnomAD
CA10229066
rs760644693
100 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA411509756
rs1278380187
100 H>Y No ClinGen
gnomAD
CA411509767
rs1256921063
101 Y>* No ClinGen
gnomAD
CA10229068
rs374422539
102 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749368799
CA324193551
103 K>E No ClinGen
Ensembl
rs1224509124
CA411509790
105 Q>E No ClinGen
TOPMed
gnomAD
rs1361186118
CA411509795
105 Q>H No ClinGen
TOPMed
CA411509800
rs1245485885
106 A>V No ClinGen
gnomAD
CA10229069
rs754638692
107 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1476989308
CA411509810
108 P>A No ClinGen
gnomAD
rs200039533
CA324193578
112 M>I No ClinGen
Ensembl
rs1414699852
CA411509854
114 L>P No ClinGen
gnomAD
rs1197812788
CA411510213
118 L>M No ClinGen
TOPMed
COSM6162288 123 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA324194730
rs1011013513
124 R>Q No ClinGen
TOPMed
rs1489069613
CA411510334
124 R>W No ClinGen
TOPMed
gnomAD
CA411510364
rs773477637
126 V>A No ClinGen
ExAC
gnomAD
CA10229103
rs773477637
126 V>G No ClinGen
ExAC
gnomAD
COSM5749697 126 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771064347
CA10229105
127 E>G No ClinGen
ExAC
gnomAD
rs776641391
CA10229106
128 N>D No ClinGen
ExAC
rs769660774
CA10229108
129 M>L No ClinGen
ExAC
CA411510446
rs1172240986
130 S>T No ClinGen
gnomAD
CA411510477
rs1194766363
132 G>R No ClinGen
gnomAD
rs763721808
CA10229111
134 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751138380
CA411510525
135 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA10229112
rs751138380
135 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766956739
CA10229114
136 A>S No ClinGen
ExAC
gnomAD
TCGA novel 139 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755404092
CA10229116
140 S>G No ClinGen
ExAC
gnomAD
rs779380103
CA10229117
141 R>Q No ClinGen
ExAC
gnomAD
rs529753389
CA324194839
141 R>W No ClinGen
1000Genomes
gnomAD
CA10229118
rs752984261
143 I>L No ClinGen
ExAC
gnomAD
CA411510683
rs1477970983
146 N>S No ClinGen
gnomAD
rs1415020764
CA411511525
151 K>N No ClinGen
TOPMed
COSM6162287 152 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 154 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 157 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA10229142
rs141358050
158 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781381422
CA10229141
158 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1460371188
CA411511642
160 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA411511653
rs1183452291
161 E>* No ClinGen
gnomAD
rs974202812
CA324197375
165 G>A No ClinGen
TOPMed
CA411511845
rs1222342185
166 M>L No ClinGen
gnomAD
CA411511843
rs1222342185
166 M>V No ClinGen
gnomAD
CA10229173
rs766756193
167 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA411511884
rs1251254966
168 E>D No ClinGen
gnomAD
CA411511870
rs1202954419
168 E>K No ClinGen
gnomAD
rs1301431475
CA411511891
169 H>Y No ClinGen
TOPMed
CA411511925
rs1455635289
171 K>N No ClinGen
TOPMed
CA10229176
rs762087441
174 L>R No ClinGen
ExAC
gnomAD
rs919508841
CA324197403
175 R>Q No ClinGen
TOPMed
gnomAD
CA10229177
rs369159661
175 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA324197406
rs985113091
176 A>V No ClinGen
TOPMed
CA411511993
rs1408284648
179 E>K No ClinGen
gnomAD
CA411512011
rs1353885580
181 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs753896605
CA10229181
COSM3363639
182 Q>L kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA411512024
rs1343231969
183 T>I No ClinGen
gnomAD
CA10229182
rs754970431
184 H>D No ClinGen
ExAC
gnomAD
COSM1130434 184 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs140773654
CA10229186
185 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1416215
CA10229185
rs199868329
185 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10229208
rs745458781
189 D>Y No ClinGen
ExAC
gnomAD
CA10229210
rs370494530
190 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324197843
rs950072445
191 F>L No ClinGen
Ensembl
rs201758961
CA411512092
193 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10229212
rs201758961
193 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411512102
rs761099651
194 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA10229213
rs773510787
194 I>T No ClinGen
ExAC
gnomAD
TCGA novel 196 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA10229218
rs138517790
197 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776855622
CA10229217
197 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA411512125
rs1447947465
198 E>D No ClinGen
gnomAD
CA10229220
rs373829961
200 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411512135
rs1223501775
200 Q>R No ClinGen
gnomAD
CA411512143
rs1388700038
201 P>R No ClinGen
TOPMed
rs1279616473
CA411512156
203 A>V No ClinGen
TOPMed
gnomAD
CA10229222
rs141463477
204 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411512161
rs141463477
204 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM580036
rs200906170
CA324197905
205 E>K Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs1025987976
CA324197911
206 A>T No ClinGen
Ensembl
COSM3554327 209 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767370449
CA10229224
209 K>E No ClinGen
ExAC
gnomAD
COSM3554328 210 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs755797154
CA10229226
211 A>T No ClinGen
ExAC
gnomAD
rs748819803
CA10229228
212 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA10229229
rs758898232
215 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs778351060
CA10229230
215 R>H No ClinGen
ExAC
gnomAD
CA411512249
rs151027653
217 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10229232
rs149406206
COSM388727
218 E>K lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA10229233
rs149406206
218 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411512272
rs373937870
220 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324197963
rs974961347
221 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10229237
COSM1220527
rs763096477
223 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs368390981
CA10229236
223 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411512318
rs761803705
228 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs774366608
CA10229239
228 I>T No ClinGen
ExAC
gnomAD
rs767460364
CA10229241
229 K>E No ClinGen
ExAC
CA10229242
rs750223551
229 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs755889770
CA10229243
230 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs755889770
CA411512328
230 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA411512327
rs1359113183
230 P>S No ClinGen
TOPMed
rs1361263875
CA411512360
233 T>M No ClinGen
gnomAD
rs878967259
CA324198269
233 T>P No ClinGen
Ensembl
CA10229269
rs752849719
234 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA10229268
rs550929865
234 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs756522592
CA10229270
237 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1356135658
CA411512403
240 N>S No ClinGen
gnomAD
CA10229271
rs780240972
243 I>N No ClinGen
ExAC
gnomAD
CA10229272
rs749565487
244 P>L No ClinGen
ExAC
gnomAD
CA10229275
rs748234997
247 R>C No ClinGen
ExAC
gnomAD
CA10229276
rs376594572
247 R>H No ClinGen
ESP
ExAC
gnomAD
CA10229279
rs770795862
250 I>M No ClinGen
ExAC
gnomAD
rs1301712577
CA411512472
251 K>R No ClinGen
gnomAD
rs1601958645
CA411512480
252 K>R No ClinGen
Ensembl
rs999854781
CA324198327
255 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs199605777
CA10229282
COSM4939840
256 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
TCGA novel 258 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs752277834
CA10229283
258 F>S No ClinGen
ExAC
gnomAD
CA411512585
rs1373714380
266 K>Q No ClinGen
gnomAD
rs1280502953
CA411512599
268 K>E No ClinGen
gnomAD
rs914333902
CA324198810
271 D>N No ClinGen
Ensembl
COSM4104043
CA324198831
rs945697657
273 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
TCGA novel 276 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747734248
CA10229305
277 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs376840369
CA10229306
278 I>T No ClinGen
ESP
ExAC
gnomAD
CA411512704
rs1436116403
281 G>S No ClinGen
gnomAD
rs1289821026
CA411512715
282 E>D No ClinGen
gnomAD
rs749077696
CA10229341
282 E>K No ClinGen
ExAC
gnomAD
rs756192771
CA324199261
283 P>H No ClinGen
Ensembl
rs201690115
CA324199263
284 L>F No ClinGen
TOPMed
gnomAD
CA324199270
rs779309005
285 Y>* No ClinGen
Ensembl
CA411512728
rs1216575475
285 Y>H No ClinGen
gnomAD
CA411512738
rs1312964485
286 R>L No ClinGen
TOPMed
gnomAD
CA411512737
rs1312964485
286 R>P No ClinGen
TOPMed
gnomAD
rs768374079
CA10229342
286 R>W No ClinGen
ExAC
gnomAD
rs1601961139
CA411512743
287 V>G No ClinGen
Ensembl
rs748514389
CA324199278
287 V>L No ClinGen
Ensembl
CA10229345
rs771516897
288 S>G No ClinGen
ExAC
gnomAD
CA411512747
rs1247371829
288 S>I No ClinGen
gnomAD
CA324199291
rs771516897
288 S>R No ClinGen
ExAC
gnomAD
rs1165286735
CA411512754
289 T>I No ClinGen
gnomAD
CA411512750
rs772751539
289 T>P No ClinGen
ExAC
gnomAD
rs772751539
CA10229346
289 T>S No ClinGen
ExAC
gnomAD
CA324199324
rs1004271976
290 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1404463657
CA411512760
291 N>H No ClinGen
gnomAD
CA411512766
rs1346394372
291 N>K No ClinGen
gnomAD
CA411512764
rs1159382697
291 N>S No ClinGen
gnomAD
CA411512772
rs1320421578
292 Y>C No ClinGen
TOPMed
gnomAD
CA411512771
rs1320421578
292 Y>F No ClinGen
TOPMed
gnomAD
rs770416253
CA10229348
292 Y>H No ClinGen
ExAC
gnomAD
COSM4104044 299 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM392957 301 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA10229351
rs111975858
303 E>A No ClinGen
ExAC
gnomAD
rs111975858
CA324199346
303 E>V No ClinGen
ExAC
gnomAD
TCGA novel 304 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 304 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 305 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 306 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1220526
CA10229352
rs373780505
306 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA411512864
rs1224480074
306 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1286627775
CA411512898
311 M>R No ClinGen
gnomAD
CA411512907
rs1386481151
312 R>H No ClinGen
TOPMed
CA10229353
rs762062613
313 K>N No ClinGen
ExAC
TOPMed
CA411512929
rs1249313746
316 L>M No ClinGen
TOPMed
CA10229354
rs767542796
316 L>R No ClinGen
ExAC
gnomAD
CA411512937
rs1215836539
317 E>G No ClinGen
TOPMed
CA411512953
rs1267397284
319 M>T No ClinGen
gnomAD
CA10229357
rs779971688
320 E>Q No ClinGen
ExAC
gnomAD
rs754791623
CA10229359
323 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs7511294
CA324199379
323 D>V No ClinGen
Ensembl
rs778731511
CA10229360
324 Q>E No ClinGen
ExAC
gnomAD
rs376883577
CA324199397
326 H>R No ClinGen
ESP
TOPMed
gnomAD
rs1215524681
CA411513023
328 Q>E No ClinGen
TOPMed
CA324199838
rs915606766
328 Q>H No ClinGen
Ensembl
rs771625974
CA411513041
330 I>M No ClinGen
ExAC
gnomAD
rs745323732
CA10229386
330 I>V No ClinGen
ExAC
gnomAD
TCGA novel 331 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA10229388
rs774938827
332 F>C No ClinGen
ExAC
gnomAD
rs746669587
CA10229389
COSM1034092
336 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1269183909
CA411513078
336 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM6095376 338 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs895122027
CA411513097
339 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs895122027
CA324199861
339 S>Y No ClinGen
TOPMed
gnomAD
rs200682835
CA10229391
340 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1476062469
CA411513109
341 M>I No ClinGen
gnomAD
rs952399927
CA324199864
345 Y>C No ClinGen
TOPMed
rs773151921
CA10229394
347 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs765117173
CA10229393
347 D>N No ClinGen
ExAC
gnomAD
rs766481418
CA10229396
350 A>S No ClinGen
ExAC
gnomAD
CA411513172
rs766481418
350 A>T No ClinGen
ExAC
gnomAD
COSM4104045 351 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767894272
CA411513189
353 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs767894272
CA10229399
353 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1227984224
CA411513188
353 R>W No ClinGen
TOPMed
gnomAD
CA411513193
rs1339750116
354 D>Y No ClinGen
gnomAD
rs868820760
CA324199900
355 A>V No ClinGen
Ensembl
CA10229400
rs753073612
356 D>N No ClinGen
ExAC
gnomAD
rs756571367
CA10229401
357 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 358 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 361 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1447089053
CA411513238
361 E>K No ClinGen
gnomAD
CA411513239
rs1447089053
361 E>Q No ClinGen
gnomAD
rs749818794
CA10229404
362 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs749818794
CA411513246
362 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs779602161
CA10229406
365 A>V No ClinGen
ExAC
gnomAD
rs1387296537
CA411513281
367 T>I No ClinGen
gnomAD
CA411513279
rs1387296537
367 T>N No ClinGen
gnomAD
CA411513288
rs371575593
369 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776294355
CA10229409
371 Y>C No ClinGen
ExAC
gnomAD
CA411513314
rs1285300109
373 L>F No ClinGen
TOPMed
gnomAD
rs1320163856
CA411513326
374 N>K No ClinGen
gnomAD
CA411513329
rs1569205925
375 Q>E No ClinGen
Ensembl
CA411513331
rs769587321
375 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs769587321
CA10229412
375 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA324199981
rs1005944442
376 E>K No ClinGen
TOPMed
CA411513368
rs1434064454
380 D>G No ClinGen
gnomAD
CA411513364
rs1321355978
380 D>N No ClinGen
gnomAD
rs1220485612
CA411513374
381 G>R No ClinGen
TOPMed
gnomAD
CA411513383
rs762939296
382 E>D No ClinGen
ExAC
TOPMed
CA10229416
rs773063627
382 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA411513396
rs1242082785
384 E>A No ClinGen
gnomAD
CA10229419
rs774462263
386 E>D No ClinGen
ExAC
gnomAD
rs923555440
CA324200028
386 E>Q No ClinGen
TOPMed
gnomAD
CA411513419
rs1206416140
387 E>G No ClinGen
gnomAD
CA10229420
rs547766954
389 D>H No ClinGen
1000Genomes
ExAC
rs767801528
CA10229421
390 T>K No ClinGen
ExAC
gnomAD
rs767801528
CA10229422
390 T>M No ClinGen
ExAC
gnomAD
rs767801528
CA411513441
390 T>R No ClinGen
ExAC
gnomAD
TCGA novel 391 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA411513448
rs1422449148
392 A>T No ClinGen
gnomAD
CA10229423
rs187753076
393 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10229425
rs754213542
395 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA411513475
rs1386348153
396 S>F No ClinGen
gnomAD
rs1456707221
CA411513487
398 D>H No ClinGen
gnomAD
rs1337321149
CA411513498
399 T>I No ClinGen
gnomAD
CA324200079
rs766115790
400 R>* No ClinGen
gnomAD
CA411513501
rs1394100412
400 R>P No ClinGen
gnomAD
rs1049850068
CA324200081
401 G>E No ClinGen
TOPMed
CA411513503
rs1311527496
401 G>R No ClinGen
gnomAD
COSM3554330 404 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1327869119
CA411513545
407 D>E No ClinGen
gnomAD
CA411513561
rs1265567981
410 G>R No ClinGen
gnomAD
CA411513583
rs1482458962
412 W>* No ClinGen
gnomAD
CA411513578
rs1224548222
412 W>* No ClinGen
TOPMed
CA411513596
rs1200282713
414 D>G No ClinGen
gnomAD

No associated diseases with Q9NRD5

No regional properties for Q9NRD5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9NRD5

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, perinuclear region
  • Membrane ; Peripheral membrane protein
  • Membrane ; Lipid-anchor
  • Postsynaptic density
  • Synapse, synaptosome
  • Cytoplasm, cytoskeleton
  • Also membrane-associated, present at excitatory synapses
PANTHER Family PTHR12141 ARFAPTIN-RELATED
PANTHER Subfamily PTHR12141:SF1 PRKCA-BINDING PROTEIN
PANTHER Protein Class vesicle coat protein
PANTHER Pathway Category Ionotropic glutamate receptor pathway
PICK

14 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endocytic vesicle membrane The lipid bilayer surrounding an endocytic vesicle.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
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 An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic early endosome An early endosome of the postsynapse. It acts as the major sorting station on the endocytic pathway, targeting neurotransmitter receptors for degregation or recycling.
presynaptic membrane A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.
synaptic vesicle A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
trans-Golgi network membrane The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

10 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
Arp2/3 complex binding Binding to an Arp2/3 complex, a protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5).
G protein-coupled receptor binding Binding to a G protein-coupled receptor.
identical protein binding Binding to an identical protein or proteins.
membrane curvature sensor activity Preferential binding of proteins on curved membranes. The binding to curved membranes by insertion (aka wedging) to curved membranes is mediated by both the hydrophobic and hydrophilic faces of the helix of membrane curvature sensing (MCS) proteins.
metal ion binding Binding to a metal ion.
phospholipid binding Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.
protein domain specific binding Binding to a specific domain of a protein.
protein kinase C binding Binding to protein kinase C.
signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

19 GO annotations of biological process

Name Definition
cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen.
cellular response to glucose starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose.
dendritic spine maintenance The organization process that preserves a dendritic spine in a stable functional or structural state. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission.
dendritic spine organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a dendritic spine. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission.
epigenetic regulation of embryonic gene expression The covalent transfer of a methyl group to C-5 of cytosine that contributes to the epigenetic regulation of embryonic gene expression.
establishment of genomic imprinting The establishment of epigenetic modifications (imprints) during gametogenesis, leading to an asymmetry between the maternal and paternal alleles, leading to differential expression of the corresponding alleles. This can happen through heterochromatin formation or through differential chromatin loop formation.
glial cell development The process aimed at the progression of a glial cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
long-term synaptic depression A process that modulates synaptic plasticity such that synapses are changed resulting in the decrease in the rate, or frequency of synaptic transmission at the synapse.
monoamine transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of Arp2/3 complex-mediated actin nucleation Any process that stops, prevents, or reduces the frequency, rate or extent of actin nucleation mediated by the Arp2/3 complex and interacting proteins.
neuronal ion channel clustering The process in which voltage-gated ion channels become localized to distinct subcellular domains in the neuron. Specific targeting, clustering, and maintenance of these channels in their respective domains are essential to achieve high conduction velocities of action potential propagation.
positive regulation of receptor internalization Any process that activates or increases the frequency, rate or extent of receptor internalization.
protein kinase C-activating G protein-coupled receptor signaling pathway The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds with activation of protein kinase C (PKC). PKC is activated by second messengers including diacylglycerol (DAG).
protein phosphorylation The process of introducing a phosphate group on to a protein.
receptor clustering The receptor metabolic process that results in grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response.
regulation of Arp2/3 complex-mediated actin nucleation Any process that modulates the frequency, rate or extent of actin nucleation mediated by the Arp2/3 complex and interacting proteins.
regulation of insulin secretion Any process that modulates the frequency, rate or extent of the regulated release of insulin.
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2T9M1 PICK1 PRKCA-binding protein Bos taurus (Bovine) SS
Q62083 Pick1 PRKCA-binding protein Mus musculus (Mouse) SS
Q9EP80 Pick1 PRKCA-binding protein Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MFADLDYDIE EDKLGIPTVP GKVTLQKDAQ NLIGISIGGG AQYCPCLYIV QVFDNTPAAL
70 80 90 100 110 120
DGTVAAGDEI TGVNGRSIKG KTKVEVAKMI QEVKGEVTIH YNKLQADPKQ GMSLDIVLKK
130 140 150 160 170 180
VKHRLVENMS SGTADALGLS RAILCNDGLV KRLEELERTA ELYKGMTEHT KNLLRAFYEL
190 200 210 220 230 240
SQTHRAFGDV FSVIGVREPQ PAASEAFVKF ADAHRSIEKF GIRLLKTIKP MLTDLNTYLN
250 260 270 280 290 300
KAIPDTRLTI KKYLDVKFEY LSYCLKVKEM DDEEYSCIAL GEPLYRVSTG NYEYRLILRC
310 320 330 340 350 360
RQEARARFSQ MRKDVLEKME LLDQKHVQDI VFQLQRLVST MSKYYNDCYA VLRDADVFPI
370 380 390 400 410
EVDLAHTTLA YGLNQEEFTD GEEEEEEEDT AAGEPSRDTR GAAGPLDKGG SWCDS