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

26 structures for P55899

Entry ID Method Resolution Chain Position Source
1EXU X-ray 270 A A 24-290 PDB
3M17 X-ray 260 A A/C/E/G 24-290 PDB
3M1B X-ray 310 A A/C/E/G 24-290 PDB
4K71 X-ray 240 A B/E 24-297 PDB
4N0F X-ray 302 A A/E/H/K 27-297 PDB
4N0U X-ray 380 A A 27-290 PDB
5BJT X-ray 320 A A/C/E/G 24-290 PDB
5BXF X-ray 285 A A/C 1-290 PDB
5WHK X-ray 250 A A 1-297 PDB
6C97 X-ray 200 A A/C 24-297 PDB
6C98 X-ray 185 A A/C 24-297 PDB
6C99 X-ray 200 A A/C 24-297 PDB
6FGB X-ray 290 A A 24-365 PDB
6ILM EM 340 A E 28-290 PDB
6LA6 EM 239 A E 28-290 PDB
6LA7 EM 282 A E 28-290 PDB
6NHA X-ray 238 A A 24-296 PDB
6QIO X-ray 195 A B 24-297 PDB
6QIP X-ray 245 A B 24-297 PDB
6WNA X-ray 240 A A 27-290 PDB
6WOL X-ray 249 A A 24-290 PDB
7B5F EM 290 A G 24-290 PDB
7C9V EM 330 A E 28-290 PDB
7Q15 X-ray 330 A A/C 1-297 PDB
7XXA EM 309 A E 28-290 PDB
AF-P55899-F1 Predicted AlphaFoldDB

305 variants for P55899

Variant ID(s) Position Change Description Diseaes Association Provenance
CA9576097
rs201887538
3 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA406845602
rs1321677477
4 P>R No ClinGen
TOPMed
CA309500782
rs865842679
5 R>W No ClinGen
gnomAD
rs1601185712
CA406845612
6 P>S No ClinGen
Ensembl
CA406845683
rs1457812213
10 A>P No ClinGen
TOPMed
CA309500790
rs1014602885
10 A>V No ClinGen
Ensembl
rs1221552740
CA406845717
13 L>I No ClinGen
gnomAD
CA309500801
rs1020227408
15 L>F No ClinGen
TOPMed
CA309500806
rs748687030
18 L>F No ClinGen
ExAC
gnomAD
CA9576098
rs748687030
18 L>V No ClinGen
ExAC
gnomAD
CA406845823
rs1568698281
20 G>E No ClinGen
Ensembl
rs966015368
CA309500815
21 S>N No ClinGen
TOPMed
rs977416239
CA309500817
22 L>P No ClinGen
TOPMed
CA9576114
rs563156763
29 S>F No ClinGen
ExAC
gnomAD
CA406846959
rs1263757524
33 H>R No ClinGen
TOPMed
CA406846966
rs1169990693
34 L>F No ClinGen
TOPMed
gnomAD
CA406846985
rs1353041751
35 T>I No ClinGen
gnomAD
rs1348652644
CA406847000
36 A>V No ClinGen
TOPMed
CA9576117
rs756598475
42 P>A No ClinGen
ExAC
gnomAD
CA406847129
rs1337482068
42 P>L No ClinGen
TOPMed
gnomAD
CA406847127
rs1337482068
42 P>Q No ClinGen
TOPMed
gnomAD
CA406847152
rs1282399994
43 G>E No ClinGen
gnomAD
rs548622027
CA9576120
43 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9576121
rs774053349
45 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA406847192
rs1471192099
46 A>T No ClinGen
TOPMed
rs745455322
CA9576122
46 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA406847370
rs1294405579
50 S>C No ClinGen
gnomAD
rs771581989
CA9576123
52 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA9576126
rs764132164
55 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs764132164
CA309501455
55 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs776410571
CA9576127
56 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA309501500
rs985172508
61 Y>H No ClinGen
TOPMed
CA9576129
rs765121002
62 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA9576131
rs375492056
65 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9576132
rs566716525
65 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406847762
rs1568698616
66 G>A No ClinGen
Ensembl
CA406847742
rs1568698609
66 G>S No ClinGen
Ensembl
rs1346962125
CA406847768
67 E>K No ClinGen
gnomAD
rs756120751
CA9576134
68 A>V No ClinGen
ExAC
gnomAD
rs778398186
CA9576135
70 P>S No ClinGen
ExAC
gnomAD
CA9576136
rs151255924
71 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406848170
rs1283581624
80 V>M No ClinGen
gnomAD
rs779188731
CA9576138
81 S>F No ClinGen
ExAC
gnomAD
rs745540437
CA9576139
86 K>R No ClinGen
ExAC
gnomAD
TCGA novel 90 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771715578
CA9576141
91 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs558937033
CA9576142
94 K>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 95 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs571119864
CA309501620
95 E>K No ClinGen
1000Genomes
rs768039997
CA9576143
97 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA309501682
rs1053115692
100 E>G No ClinGen
TOPMed
gnomAD
CA406848632
rs1433490219
101 A>T No ClinGen
TOPMed
CA9576144
rs776778260
103 K>Q No ClinGen
ExAC
gnomAD
rs1490955370
CA406848686
103 K>R No ClinGen
gnomAD
CA406848701
rs1200387144
104 A>T No ClinGen
gnomAD
CA406848705
rs1347515343
104 A>V No ClinGen
TOPMed
CA9576146
rs761777508
105 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA9576147
rs201043787
106 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9576148
rs201043787
106 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1568698688 107 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406848780
rs1160378515
107 G>E No ClinGen
gnomAD
rs1446108924
CA406848789
108 K>* No ClinGen
TOPMed
rs577203568
CA9576169
109 G>A No ClinGen
1000Genomes
ExAC
gnomAD
CA406848987
rs1385630873
110 P>L No ClinGen
gnomAD
CA9576170
rs544444357
111 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753884697
CA9576171
112 T>I No ClinGen
ExAC
gnomAD
CA406849016
rs1601186998
112 T>P No ClinGen
Ensembl
CA406849074
rs1490571310
115 G>D No ClinGen
TOPMed
rs765755605
CA9576174
119 C>* No ClinGen
ExAC
gnomAD
CA406849173
rs750871998
120 E>K No ClinGen
ExAC
gnomAD
CA9576175
rs750871998
120 E>Q No ClinGen
ExAC
gnomAD
CA406849280
rs1296773569
123 P>L No ClinGen
TOPMed
CA406849259
rs1309576545
123 P>S No ClinGen
TOPMed
rs1027136550
CA309501961
124 D>N No ClinGen
TOPMed
gnomAD
CA406849321
rs977467479
125 N>D No ClinGen
Ensembl
CA309501970
rs977467479
125 N>H No ClinGen
Ensembl
CA9576176
rs758794510
125 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1396854985
CA406849381
127 S>A No ClinGen
gnomAD
TCGA novel 127 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780275784
CA9576177
129 P>A No ClinGen
ExAC
gnomAD
rs1454015050
CA406849501
130 T>A No ClinGen
gnomAD
CA9576178
rs751281836
130 T>I No ClinGen
ExAC
gnomAD
CA406849529
rs1230163488
131 A>S No ClinGen
TOPMed
gnomAD
CA406849523
rs1230163488
131 A>T No ClinGen
TOPMed
gnomAD
rs1270924261
CA406849539
131 A>V No ClinGen
gnomAD
CA9576180
rs140458678
132 K>M No ClinGen
ESP
ExAC
TOPMed
RCV000951155
rs150420714
COSM239850
CA9576181
132 K>N prostate [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA406849585
rs140458678
132 K>R No ClinGen
ESP
ExAC
TOPMed
CA406849605
rs1601187116
133 F>C No ClinGen
Ensembl
CA9576183
rs777861971
133 F>L No ClinGen
ExAC
gnomAD
CA406849717
rs1204194307
138 E>K No ClinGen
gnomAD
rs1421832028
CA406849745
139 E>* No ClinGen
gnomAD
CA406849754
rs1568698932
139 E>V No ClinGen
Ensembl
rs1356009302
CA406849794
141 M>R No ClinGen
TOPMed
CA9576186
rs773997430
144 D>N No ClinGen
ExAC
gnomAD
rs760999604
CA9576187
147 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA406849989
rs1474891146
147 Q>L No ClinGen
gnomAD
rs965231176
CA309502084
148 G>R No ClinGen
TOPMed
gnomAD
CA9576189
rs776785568
148 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA9576190
rs548660464
149 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs765233786
CA9576191
151 G>D No ClinGen
ExAC
gnomAD
rs75776802
CA309502102
152 G>W No ClinGen
Ensembl
rs1568698968
CA406850181
153 D>E No ClinGen
Ensembl
rs773834526
CA9576192
153 D>Y No ClinGen
ExAC
gnomAD
CA406850212
rs1326030891
154 W>* No ClinGen
gnomAD
rs1217649925
CA406850260
155 P>R No ClinGen
TOPMed
gnomAD
CA406850236
rs1216992482
155 P>S No ClinGen
gnomAD
CA406850306
rs1223056651
157 A>V No ClinGen
gnomAD
rs766812943
CA9576194
160 I>V No ClinGen
ExAC
gnomAD
rs751836833
CA9576195
161 S>R No ClinGen
ExAC
gnomAD
rs1191034149
CA406850472
163 R>Q No ClinGen
gnomAD
CA406850465
rs1487863691
163 R>W Variant assessed as Somatic; 4.782e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9576196
rs755325686
164 W>C No ClinGen
ExAC
gnomAD
CA406850487
rs1601187287
164 W>G No ClinGen
Ensembl
rs932442681
CA309502147
168 D>E No ClinGen
Ensembl
rs921214557
CA309502142
168 D>H No ClinGen
Ensembl
TCGA novel 170 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767296631
CA9576197
170 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9576200
rs777412760
CA406850717
172 N>K No ClinGen
ExAC
gnomAD
CA406850728
rs1159690332
173 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 176 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406850783
rs1305186351
176 T>S No ClinGen
gnomAD
TCGA novel
rs1601187375
CA406850836
180 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA9576205
rs373482955
183 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9576206
rs554770888
183 P>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1395257
CA9576204
rs373482955
183 P>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406850914
rs1601187401
184 H>P No ClinGen
Ensembl
TCGA novel 184 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1270515624
CA406850936
185 R>C No ClinGen
gnomAD
CA9576208
rs200294618
185 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9576209
rs145251123
187 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406850970
rs1264611909
188 E>Q No ClinGen
gnomAD
rs759996121
CA9576210
189 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA406850993
rs1160447854
190 L>M No ClinGen
TOPMed
gnomAD
CA9576212
rs766823478
193 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA9576214
rs759988303
194 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9576215
rs140957263
194 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9576216
rs140957263
194 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9576219
CA309502310
rs753321487
195 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1601187487
CA406851060
196 N>T No ClinGen
Ensembl
CA309511195
rs868060040
202 P>A No ClinGen
Ensembl
rs1289505049
CA406855846
202 P>L No ClinGen
TOPMed
gnomAD
CA9576266
rs780596384
203 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA406855869
rs780596384
203 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs780596384
CA9576265
203 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1031342092
CA309511210
204 S>C No ClinGen
TOPMed
gnomAD
rs1378221933
CA406855961
205 M>I No ClinGen
TOPMed
gnomAD
rs1177979004
CA406855948
205 M>T No ClinGen
TOPMed
gnomAD
CA9576268
rs757472733
205 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs779240739
CA9576269
206 R>C Variant assessed as Somatic; 4.765e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM3835383
rs1163474595
CA406855986
206 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA9576270
rs141886822
207 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1389228142
CA406856097
209 A>S No ClinGen
TOPMed
rs1401612604
CA406856105
209 A>V No ClinGen
gnomAD
rs1446659989
CA406856116
210 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9576273
rs747515242
210 R>Q No ClinGen
ExAC
gnomAD
rs981686219
CA406856133
211 P>A No ClinGen
TOPMed
gnomAD
rs768959760
CA309511261
211 P>L No ClinGen
ExAC
gnomAD
CA9576274
rs768959760
211 P>R No ClinGen
ExAC
gnomAD
rs981686219
CA309511249
211 P>S No ClinGen
TOPMed
gnomAD
CA9576275
rs777030957
212 S>G No ClinGen
ExAC
gnomAD
rs1258755172
CA406856156
212 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA406856162
rs1370269878
212 S>R No ClinGen
TOPMed
CA309511283
rs928505166
214 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA309511297
rs939434904
217 S>F No ClinGen
TOPMed
gnomAD
CA9576277
rs769515663
218 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs772799298
CA9576278
220 T>S No ClinGen
ExAC
gnomAD
rs1367480794
CA406856494
222 S>C No ClinGen
gnomAD
CA406856540
rs1471623069
222 S>R No ClinGen
gnomAD
CA406856550
rs1169330758
223 A>P No ClinGen
gnomAD
rs1169330758
CA406856553
223 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA406856722
rs765804676
227 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA406856708
rs1601199416
227 Y>S No ClinGen
Ensembl
CA9576281
rs774335339
228 P>L No ClinGen
ExAC
gnomAD
rs759499665
CA9576282
229 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs752571484
CA406856909
234 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs752571484
CA9576284
234 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9576283
rs767260789
234 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9576286
rs147601685
237 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9576287
rs147601685
237 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9576285
rs147973476
237 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370645883
CA309511359
238 N>S No ClinGen
gnomAD
rs1347064601
CA406857050
239 G>W No ClinGen
gnomAD
rs780268860
CA9576290
242 A>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1206936
rs780268860
CA9576289
242 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1459800562
CA406857188
243 G>V No ClinGen
TOPMed
CA406857228
rs781510967
244 T>I No ClinGen
ExAC
gnomAD
CA9576291
rs543194840
244 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781510967
CA9576292
244 T>S No ClinGen
ExAC
gnomAD
rs374238496
CA9576294
245 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406857292
rs900437297
246 Q>* No ClinGen
gnomAD
rs900437297
CA309511461
246 Q>E No ClinGen
gnomAD
rs772852184
CA9576295
246 Q>H No ClinGen
ExAC
gnomAD
CA406857329
rs1400495409
247 G>D No ClinGen
TOPMed
gnomAD
rs771380652
CA309511479
248 D>N No ClinGen
Ensembl
rs1168003686
CA406857398
250 G>S No ClinGen
TOPMed
gnomAD
CA406857443
rs770480388
251 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs770480388
CA406857450
251 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs770480388
CA9576297
251 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1192351481
CA406857471
252 N>S No ClinGen
TOPMed
CA9576300
rs767515922
259 A>S No ClinGen
ExAC
gnomAD
rs767515922
CA9576301
259 A>T No ClinGen
ExAC
gnomAD
CA406857663
rs1331792548
259 A>V No ClinGen
gnomAD
CA9576303
rs763978019
COSM1252307
260 S>L Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758671395
CA9576305
261 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 261 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754962611
CA9576308
264 T>A No ClinGen
ExAC
gnomAD
rs748534641
CA9576310
266 K>E No ClinGen
ExAC
gnomAD
CA406857979
rs1230139775
267 S>T No ClinGen
TOPMed
rs756533874
CA9576311
268 G>S No ClinGen
ExAC
gnomAD
rs573657624
CA309511606
269 D>N No ClinGen
1000Genomes
gnomAD
CA9576314
rs770605164
271 H>Q No ClinGen
ExAC
gnomAD
rs1418061908
CA406858235
272 H>L No ClinGen
gnomAD
CA406858277
rs1368383274
273 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9576316
rs745400633
274 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA309511617
rs1004298228
276 I>V No ClinGen
Ensembl
CA9576318
rs181621260
280 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs777748221
CA9576319
280 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA406858679
rs995470892
283 A>P No ClinGen
gnomAD
rs995470892
CA309511684
283 A>T No ClinGen
gnomAD
rs558897527
CA9576321
283 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9576324
rs751671400
284 Q>E No ClinGen
ExAC
gnomAD
rs1172109872
CA406858760
285 P>L No ClinGen
TOPMed
rs767485909
CA406858743
285 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA9576326
rs767485909
285 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs753301457
CA9576327
286 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1167172470
CA406858795
287 R>G No ClinGen
gnomAD
rs11882842
CA309511736
287 R>K No ClinGen
Ensembl
rs1601199820
CA406858846
288 V>G No ClinGen
Ensembl
CA406858852
rs1350692360
289 E>K No ClinGen
gnomAD
rs770697747
CA9576378
294 A>G No ClinGen
ExAC
gnomAD
rs1365785355
CA406859309
294 A>T No ClinGen
TOPMed
CA9576379
rs775759872
295 K>M No ClinGen
ExAC
gnomAD
CA406859416
rs1467238023
297 S>C No ClinGen
gnomAD
rs111846329
CA9576381
297 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9576380
rs111846329
297 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406859433
CA9576382
rs34522905
298 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9576383
rs34522905
298 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 300 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141001122
CA9576386
300 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766845001
CA9576387
301 V>A No ClinGen
ExAC
gnomAD
CA406859521
rs766845001
301 V>G No ClinGen
ExAC
gnomAD
rs552700082
CA309512529
304 V>I No ClinGen
1000Genomes
CA406859601
rs752280594
305 I>F No ClinGen
ExAC
gnomAD
rs752280594
CA9576391
305 I>V No ClinGen
ExAC
gnomAD
CA406859628
rs1459473819
306 G>D No ClinGen
TOPMed
gnomAD
COSM3692960
rs144900355
CA9576393
306 G>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199588435
CA9576394
307 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309512575
rs961720168
309 L>P No ClinGen
TOPMed
gnomAD
rs145875747
CA309512576
310 L>F No ClinGen
ESP
TOPMed
gnomAD
rs973257707
CA309512578
310 L>P No ClinGen
Ensembl
CA9576396
rs778656931
311 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200666118
CA406859748
313 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200666118
COSM999317
CA9576398
313 A>V Variant assessed as Somatic; 4.644e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1601200876
CA406859770
315 V>G No ClinGen
Ensembl
rs748189145
CA9576400
315 V>I No ClinGen
ExAC
gnomAD
CA406859807
rs1259852571
317 G>* No ClinGen
gnomAD
TCGA novel 317 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9576402
rs773658267
317 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA9576403
rs763500395
318 A>T No ClinGen
ExAC
gnomAD
CA406859861
rs1248119064
319 L>M No ClinGen
TOPMed
gnomAD
CA406859922
rs1187807513
321 W>C No ClinGen
gnomAD
rs773899345 325 R>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1424918091
CA406860129
327 G>R No ClinGen
gnomAD
rs142797093
CA9576408
329 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406860474
rs766183044
331 P>A No ClinGen
ExAC
gnomAD
CA406860487
rs1485223386
331 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs766183044
CA9576442
331 P>S No ClinGen
ExAC
gnomAD
rs1246889776
CA406860500
332 W>* No ClinGen
TOPMed
rs1036044883
CA309513105
333 I>M No ClinGen
Ensembl
rs752908319
CA9576443
336 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756324491
CA9576444
336 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756324491
CA9576445
336 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1393639273
CA406860709
339 D>A No ClinGen
gnomAD
rs757342904
CA9576447
339 D>N No ClinGen
ExAC
gnomAD
CA9576448
rs779632491
340 T>I No ClinGen
ExAC
gnomAD
rs779632491
CA9576449
340 T>S No ClinGen
ExAC
gnomAD
CA9576452
rs747296238
341 G>E No ClinGen
ExAC
gnomAD
CA9576451
rs775893397
CA406860760
341 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs776091911
CA9576454
342 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA9576456
rs146734541
343 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9576455
rs146734541
343 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs894180076
CA309513152
345 P>H No ClinGen
TOPMed
gnomAD
CA309513157
rs894180076
345 P>L No ClinGen
TOPMed
gnomAD
CA406860913
rs1385756672
347 P>A No ClinGen
TOPMed
TCGA novel 347 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs535861974
CA9576459
349 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs535861974
CA309513179
349 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs868581036
CA309513185
351 Q>* No ClinGen
Ensembl
CA9576460
rs751398296
352 D>A No ClinGen
ExAC
gnomAD
rs1356505064
CA406862257
355 L>V No ClinGen
gnomAD
rs754677554
CA9576461
356 K>E No ClinGen
ExAC
gnomAD
CA406862314
rs1251686144
356 K>R No ClinGen
gnomAD
rs1459324123
CA406862336
357 D>N No ClinGen
gnomAD
rs762437562
CA9576462
358 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 359 N>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757473780
CA9576465
360 V>A No ClinGen
ExAC
gnomAD
rs200786838
CA9576464
360 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs779118203
CA9576466
361 I>N No ClinGen
ExAC
gnomAD
rs779118203
CA9576467
361 I>T No ClinGen
ExAC
gnomAD
CA9576468
rs758976222
362 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs201395293
CA9576469
363 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA309513207
rs74973216
364 T>P No ClinGen
Ensembl
CA9576471
COSM1681214
rs768835093
365 A>T haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA406862652
rs1372406389
366 A>W No ClinGen
gnomAD

No associated diseases with P55899

4 regional properties for P55899

Type Name Position InterPro Accession
conserved_site Immunoglobulin/major histocompatibility complex, conserved site 273 - 279 IPR003006
domain Immunoglobulin C1-set 216 - 285 IPR003597
domain Immunoglobulin-like domain 202 - 289 IPR007110
domain MHC class I-like antigen recognition-like 28 - 197 IPR011161

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
  • Endosome membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
endosome membrane The lipid bilayer surrounding an endosome.
external side of plasma membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
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.

2 GO annotations of molecular function

Name Definition
beta-2-microglobulin binding Binding to beta-2-microglobulin.
IgG binding Binding to an immunoglobulin of an IgG isotype.

1 GO annotations of biological process

Name Definition
IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor The process of transporting IgG immunoglobulin, via transcytosis using the FcRn (also known as the neonatal Fc receptor; gene name FCGRT), from apical surface of an epithelial cell to the basolateral surface or vice versa depending on the location. This process is used for uptake of IgG from the milk in the gut in rodents, for transplacental transport of IgG from mother to embryo in humans, and for maintenance of a steady-state distribution of IgG across epithelial boundaries in general in adult mammals.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P15813 CD1D Antigen-presenting glycoprotein CD1d Homo sapiens (Human) PR
P29017 CD1C T-cell surface glycoprotein CD1c Homo sapiens (Human) PR
Q9BZM4 ULBP3 UL16-binding protein 3 Homo sapiens (Human) PR
Q61559 Fcgrt IgG receptor FcRn large subunit p51 Mus musculus (Mouse) PR
P13599 Fcgrt IgG receptor FcRn large subunit p51 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MGVPRPQPWA LGLLLFLLPG SLGAESHLSL LYHLTAVSSP APGTPAFWVS GWLGPQQYLS
70 80 90 100 110 120
YNSLRGEAEP CGAWVWENQV SWYWEKETTD LRIKEKLFLE AFKALGGKGP YTLQGLLGCE
130 140 150 160 170 180
LGPDNTSVPT AKFALNGEEF MNFDLKQGTW GGDWPEALAI SQRWQQQDKA ANKELTFLLF
190 200 210 220 230 240
SCPHRLREHL ERGRGNLEWK EPPSMRLKAR PSSPGFSVLT CSAFSFYPPE LQLRFLRNGL
250 260 270 280 290 300
AAGTGQGDFG PNSDGSFHAS SSLTVKSGDE HHYCCIVQHA GLAQPLRVEL ESPAKSSVLV
310 320 330 340 350 360
VGIVIGVLLL TAAAVGGALL WRRMRSGLPA PWISLRGDDT GVLLPTPGEA QDADLKDVNV
IPATA