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

20 structures for P15813

Entry ID Method Resolution Chain Position Source
1ZT4 X-ray 300 A A/C 19-299 PDB
2PO6 X-ray 320 A A/E 24-295 PDB
3HUJ X-ray 250 A A/C 21-295 PDB
3SDX X-ray 312 A A/C 24-295 PDB
3TZV X-ray 306 A C 21-295 PDB
3U0P X-ray 280 A A/C/E 21-295 PDB
3VWJ X-ray 309 A A 21-295 PDB
3VWK X-ray 294 A A 21-295 PDB
4EN3 X-ray 257 A C 21-295 PDB
4LHU X-ray 287 A A 24-295 PDB
4MNG X-ray 301 A A/C 21-201 PDB
4MQ7 X-ray 260 A A 21-202 PDB
4WO4 X-ray 250 A A 24-295 PDB
4WW2 X-ray 248 A C 21-295 PDB
4WWK X-ray 310 A C 21-295 PDB
6V7Y X-ray 240 A A 23-296 PDB
6V7Z X-ray 275 A A/C 23-296 PDB
6V80 X-ray 353 A A/F 23-296 PDB
8SOS X-ray 233 A A/E 23-296 PDB
AF-P15813-F1 Predicted AlphaFoldDB

322 variants for P15813

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1413615456
CA342984549
COSM897672
2 G>R endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs967067063
CA342984570
3 C>S No ClinGen
TOPMed
gnomAD
rs967067063
CA31217353
3 C>Y No ClinGen
TOPMed
gnomAD
CA31217360
rs1004363577
5 L>P No ClinGen
Ensembl
rs746264656
CA1177963
7 L>M No ClinGen
ExAC
gnomAD
CA342984623
rs1354699291
7 L>P No ClinGen
gnomAD
rs1421587364
CA342984636
9 L>F No ClinGen
TOPMed
CA342984635
rs1421587364
9 L>V No ClinGen
TOPMed
CA1177965
rs575858932
11 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA31217471
rs955133347
13 L>F No ClinGen
TOPMed
rs768289152
CA1177969
14 Q>* No ClinGen
ExAC
CA1177970
rs776132124
15 A>P No ClinGen
ExAC
CA31217493
rs1030947818
16 W>C No ClinGen
Ensembl
rs761264753
CA1177971
16 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA342984735
rs761264753
16 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1181570854
CA342984748
17 G>R No ClinGen
gnomAD
rs986366494
CA31217499
21 V>I No ClinGen
TOPMed
gnomAD
rs986366494
CA342984825
21 V>L No ClinGen
TOPMed
gnomAD
CA1177991
rs563464986
24 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762862302
CA1177992
26 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs765927009
CA1177993
27 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA342985515
rs1424286438
28 L>F No ClinGen
gnomAD
CA342985513
rs1424286438
28 L>I No ClinGen
gnomAD
CA342985521
rs1467075339
29 R>C No ClinGen
TOPMed
gnomAD
rs1162545934
CA342985534
31 L>F No ClinGen
TOPMed
gnomAD
CA342985533
rs1162545934
31 L>I No ClinGen
TOPMed
gnomAD
CA342985543
rs1571063260
32 Q>R No ClinGen
Ensembl
rs774026057
CA1177994
33 I>S No ClinGen
ExAC
gnomAD
TCGA novel 34 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1177995
rs759322259
35 S>F No ClinGen
ExAC
gnomAD
rs764442092
CA1177996
36 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA342985578
rs1224733607
38 N>D No ClinGen
TOPMed
CA1177998
rs145764530
38 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs534777032
CA1177997
38 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs765463924
CA1178000
41 W>R No ClinGen
ExAC
gnomAD
rs150689409
CA1178001
41 W>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA342985606
rs1417307672
42 T>P No ClinGen
TOPMed
CA1178003
rs780562127
43 R>C Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1178004
rs571302746
43 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA342985620
rs1404587858
44 T>S No ClinGen
TOPMed
rs755379238
CA1178005
45 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA342985631
rs1412947803
46 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1178009
rs769435157
48 A>T No ClinGen
ExAC
TCGA novel 49 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1178011
rs147976430
RCV000898682
49 W>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1298885559
CA342985663
51 G>A No ClinGen
gnomAD
rs1298885559
CA342985661
51 G>E No ClinGen
gnomAD
rs754739489
CA31217921
51 G>R No ClinGen
TOPMed
gnomAD
rs754739489
CA31217923
51 G>W No ClinGen
TOPMed
gnomAD
CA1178012
rs770791482
52 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs774300975
CA31217927
52 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 52 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1178013
rs774300975
52 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1558043720
CA342985670
53 L>V No ClinGen
Ensembl
CA342985677
rs1571063584
54 Q>P No ClinGen
Ensembl
CA342985683
rs759359465
55 T>A No ClinGen
ExAC
gnomAD
rs150540703
CA1178015
COSM239221
55 T>M prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1178014
rs759359465
55 T>S No ClinGen
ExAC
gnomAD
rs775409915
CA1178016
56 H>N No ClinGen
ExAC
gnomAD
CA31217935
rs369994630
57 S>R No ClinGen
ESP
TOPMed
rs1238892190
CA342985715
59 S>R No ClinGen
gnomAD
CA342985723
rs1286282747
60 N>K No ClinGen
TOPMed
gnomAD
CA1178017
rs762132850
61 D>N No ClinGen
ExAC
gnomAD
COSM1498718
rs765499678
CA1178018
62 S>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA342985746
rs62621276
64 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1178019
VAR_010211
rs62621276
RCV000955795
64 T>S No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA342985754
rs1483508575
65 V>A No ClinGen
gnomAD
CA1178020
rs139809600
66 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1178021
rs373808437
66 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764778150
CA31217988
67 S>F No ClinGen
Ensembl
CA342985777
rs1438843876
69 K>N No ClinGen
gnomAD
CA31217992
rs868344809
72 S>F No ClinGen
gnomAD
CA1178023
rs755467075
73 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA31218015
rs751998026
77 S>I No ClinGen
ExAC
gnomAD
CA1178024
rs751998026
77 S>N No ClinGen
ExAC
gnomAD
rs755775062
CA1178026
78 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1178028
rs757525630
79 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA342985902
rs1309581816
80 Q>E No ClinGen
gnomAD
CA342985905
rs1355355544
80 Q>R No ClinGen
gnomAD
rs773711451
CA1178031
81 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs773711451
CA1178030
81 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA31218033
rs770514010
81 W>G No ClinGen
ExAC
gnomAD
CA1178029
rs770514010
81 W>R No ClinGen
ExAC
gnomAD
CA342985943
rs1418909519
86 H>D No ClinGen
TOPMed
rs1457194054
CA342985950
87 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA342985965
COSM3802348
rs920079330
89 R>W Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA342985971
rs1425794734
90 V>F No ClinGen
TOPMed
TCGA novel 92 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1178035
rs770171229
92 R>G No ClinGen
ExAC
gnomAD
CA31218104
rs1049934456
94 S>G No ClinGen
Ensembl
CA342985998
rs1240298917
94 S>T No ClinGen
gnomAD
rs773523873
CA1178036
95 F>C No ClinGen
ExAC
gnomAD
rs763067209
CA1178037
96 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA342986017
rs1425881954
97 R>T No ClinGen
gnomAD
CA342986025
rs1488479163
98 D>G No ClinGen
TOPMed
COSM1247663
CA342986029
rs1245473930
99 V>M oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA1178039
rs200638686
100 K>M No ClinGen
1000Genomes
ExAC
gnomAD
CA1178041
rs540329660
100 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA342986057
rs1469165638
103 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA342986069
rs1378667244
104 K>N No ClinGen
gnomAD
CA31218126
rs947265466
104 K>R No ClinGen
TOPMed
CA1178043
rs756425870
106 L>R No ClinGen
ExAC
gnomAD
rs1433771195
CA342986079
106 L>V No ClinGen
gnomAD
rs1220430860
CA342986086
107 R>H No ClinGen
gnomAD
CA1178046
rs145209409
108 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1199062111 109 S>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs199803276
CA31218459
112 L>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA1178072
rs747843388
113 E>A No ClinGen
ExAC
gnomAD
rs1243821135
CA342986156
116 V>L No ClinGen
gnomAD
CA342986161
rs1284508937
117 S>P No ClinGen
gnomAD
rs142254126
CA1178073
118 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142254126
CA31218486
118 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA342986170
rs1295329954
119 G>S No ClinGen
TOPMed
rs1488686000
CA342986201
123 H>P No ClinGen
gnomAD
CA342986224
rs772184982
126 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA31218541
rs376234152
129 N>D No ClinGen
ESP
gnomAD
rs376234152
CA342986238
129 N>H No ClinGen
ESP
gnomAD
CA342986239
rs376234152
129 N>Y No ClinGen
ESP
gnomAD
TCGA novel 130 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1558044142
CA342986245
130 N>Y No ClinGen
Ensembl
CA1178077
rs775533162
COSM414416
131 F>L urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1296914455
CA342986254
131 F>V No ClinGen
TOPMed
CA342986256
rs1482929947
131 F>Y No ClinGen
gnomAD
rs764439411
CA342986265
CA1178079
132 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs761312127
CA1178078
132 F>Y No ClinGen
ExAC
gnomAD
rs777065653
CA1178081
133 H>L No ClinGen
ExAC
gnomAD
rs777065653
CA1178080
133 H>R No ClinGen
ExAC
gnomAD
rs750151889
CA1178083
134 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 135 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1178085
rs149673076
137 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1473022956
CA342986323
141 I>N No ClinGen
TOPMed
gnomAD
CA342986337
rs1308853719
143 S>I No ClinGen
gnomAD
CA31218640
rs141459313
145 Q>P No ClinGen
ESP
CA31218659
rs866317924
146 G>E No ClinGen
Ensembl
rs748002385
CA342986355
CA1178089
146 G>R No ClinGen
ExAC
gnomAD
TCGA novel 146 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1201598310
CA342986364
147 T>I No ClinGen
TOPMed
gnomAD
CA342986363
rs1201598310
147 T>S No ClinGen
TOPMed
gnomAD
CA1178092
rs150267466
150 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777519162
COSM1601017
CA1178091
150 E>K liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA342986396
rs1359105831
152 T>I No ClinGen
TOPMed
gnomAD
CA342986397
rs1359105831
152 T>N No ClinGen
TOPMed
gnomAD
CA31218695
rs944463487
153 Q>E No ClinGen
Ensembl
CA342986410
rs1237224499
154 E>D No ClinGen
TOPMed
gnomAD
rs112389115
CA31218702
154 E>G No ClinGen
Ensembl
rs1439861535
CA342986414
155 A>S No ClinGen
gnomAD
rs1276312770
CA342986420
156 P>S No ClinGen
TOPMed
CA342986444
rs1229698345
159 V>G No ClinGen
TOPMed
rs775551491
CA1178095
160 N>H No ClinGen
ExAC
gnomAD
CA342986453
COSM1247665
rs1173138241
161 L>V Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1463895346
CA342986464
162 A>V No ClinGen
gnomAD
CA1178097
rs769237588
164 Q>R No ClinGen
ExAC
gnomAD
CA31218720
rs573460385
166 L>H No ClinGen
Ensembl
rs569192974
CA1178099
166 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1234034510
CA342986514
170 K>E No ClinGen
gnomAD
CA1178102
COSM463196
rs536931854
172 T>K kidney Variant assessed as Somatic; 0.0003234 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs536931854
CA1178101
172 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555012544
CA1178103
175 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1178104
rs751106209
176 V>E No ClinGen
ExAC
gnomAD
rs1464715218
CA342986565
177 Q>H No ClinGen
TOPMed
rs754401833
CA1178105
178 W>* No ClinGen
ExAC
gnomAD
rs754401833
CA1178106
CA342986573
178 W>C No ClinGen
ExAC
gnomAD
CA342986569
rs1259029374
178 W>G No ClinGen
gnomAD
CA342986591
rs1197239916
181 N>I No ClinGen
TOPMed
gnomAD
CA342986590
rs1197239916
181 N>S No ClinGen
TOPMed
gnomAD
rs370390485
CA1178109
182 G>A No ClinGen
ESP
ExAC
gnomAD
rs756062333
CA1178108
182 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA342986594
rs756062333
182 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA31218821
rs934301784
185 P>L No ClinGen
Ensembl
CA342986619
rs1369461190
186 Q>* No ClinGen
gnomAD
CA1178111
rs758632260
187 F>I No ClinGen
ExAC
TOPMed
gnomAD
rs780199550
CA1178112
190 G>C No ClinGen
ExAC
gnomAD
CA1178113
rs747224165
190 G>D No ClinGen
ExAC
gnomAD
rs768667642
CA1178114
191 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 191 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781320176
CA1178115
192 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA342986673
rs1553250499
194 S>L No ClinGen
Ensembl
rs770361108
CA1178117
195 G>A No ClinGen
ExAC
gnomAD
rs1387458914
CA342986674
195 G>R No ClinGen
gnomAD
CA1178118
rs773729311
196 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA342986689
rs149463702
197 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1178119
rs149463702
197 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759201645
CA31218915
198 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs759201645
CA1178122
198 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 200 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1487925959
CA342986726
203 V>M No ClinGen
gnomAD
CA342986757
rs1195945025
205 P>H No ClinGen
TOPMed
TCGA novel 206 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 206 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1178158
rs756299315
207 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs756299315
COSM1335139
CA31219403
207 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA342986767
rs1237218636
207 A>V No ClinGen
TOPMed
rs1571066666
CA342986774
208 W>L No ClinGen
Ensembl
CA31219415
rs566569460
208 W>R No ClinGen
gnomAD
rs1175071315
CA342986781
209 L>P No ClinGen
TOPMed
rs750887347
CA1178160
211 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757831900
CA1178161
211 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757831900
CA342986792
211 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1342871267
CA342986793
212 G>C No ClinGen
TOPMed
gnomAD
CA342986796
rs1558044864
212 G>D No ClinGen
Ensembl
TCGA novel 214 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs539075437
CA31219439
216 G>D No ClinGen
gnomAD
COSM1335140
CA1178163
rs147417067
218 G>D large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM1644482
CA1178165
rs775167221
219 R>C NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs199860570
CA1178166
219 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768212638
CA1178167
220 L>P No ClinGen
ExAC
gnomAD
CA1178169
CA342986854
rs761745102
223 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs765167318
CA1178170
224 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs772906466
CA1178171
225 H>P No ClinGen
ExAC
gnomAD
TCGA novel 227 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766059814
CA1178173
228 G>R No ClinGen
ExAC
gnomAD
CA342986903
rs1466445844
230 Y>* No ClinGen
gnomAD
rs569233577
CA1178175
231 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA342986922
rs1355878184
233 P>L No ClinGen
gnomAD
rs1433700746
CA342986924
234 V>I No ClinGen
TOPMed
gnomAD
TCGA novel
CA342986940
rs1346074244
236 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
rs764333911
CA1178177
238 W>* No ClinGen
ExAC
gnomAD
rs1022444364
CA31219516
239 M>T No ClinGen
TOPMed
gnomAD
rs779426050
CA1178181
240 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs779426050
CA31219543
240 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA1178180
rs779426050
240 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs139209490
CA1178178
240 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1178183
rs367746380
241 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367746380
CA1178184
241 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758837390
CA1178182
241 G>S No ClinGen
ExAC
TCGA novel 242 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA31219557
rs149772303
CA1178185
242 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1178187
rs776133854
244 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA342986998
rs1487841401
245 Q>R No ClinGen
TOPMed
rs948414574
CA31219605
246 Q>* No ClinGen
Ensembl
rs773245435
CA1178191
247 G>A No ClinGen
ExAC
gnomAD
rs1240900532
CA342987009
247 G>S No ClinGen
TOPMed
CA1178192
rs762773829
248 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1178193
rs766250843
250 P>Q No ClinGen
ExAC
gnomAD
rs1406224009
CA342987035
251 G>E No ClinGen
gnomAD
CA1178195
rs748004286
252 D>N No ClinGen
ExAC
gnomAD
rs748004286
CA342987039
252 D>Y No ClinGen
ExAC
gnomAD
CA1178196
rs764352305
253 I>F No ClinGen
ExAC
gnomAD
CA1178197
rs764352305
253 I>V No ClinGen
ExAC
gnomAD
rs757319382
CA1178198
254 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA1178199
rs371913497
255 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750996933
CA31219705
256 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA1178200
rs750996933
256 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA1178201
rs758827375
258 D>G No ClinGen
ExAC
gnomAD
CA1178203
COSM1335141
rs182855664
259 E>K large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754650454
CA1178204
260 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA342987098
rs1448022182
261 W>C No ClinGen
gnomAD
CA342987095
rs1287550250
261 W>L No ClinGen
TOPMed
CA1178205
COSM424211
rs144272399
264 R>* Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1364058193
CA342987114
264 R>Q No ClinGen
TOPMed
rs920387491
CA31219754
268 D>A No ClinGen
TOPMed
CA1178207
rs769399031
268 D>N No ClinGen
ExAC
gnomAD
rs1347896354
CA342987150
270 V>A No ClinGen
gnomAD
CA31219798
rs930404466
273 E>D No ClinGen
TOPMed
rs774299268
CA1178211
276 G>V No ClinGen
ExAC
gnomAD
rs1320206921
CA342987189
277 L>V No ClinGen
gnomAD
CA1178213
rs559158267
278 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777032434
CA1178214
278 S>C No ClinGen
ExAC
gnomAD
rs1316027050
CA342987202
279 C>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs200278882
CA31219874
280 R>Q No ClinGen
1000Genomes
gnomAD
rs529047977
CA31219854
280 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1571067328
CA342987213
281 V>G No ClinGen
Ensembl
CA342987208
rs1558045294
281 V>M No ClinGen
Ensembl
rs1285313056
CA342987226
283 H>P No ClinGen
gnomAD
CA1178217
rs143328267
284 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1178218
rs750404418
284 S>N No ClinGen
ExAC
gnomAD
CA1178219
rs772985800
287 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs766824137
CA1178220
288 G>S No ClinGen
ExAC
gnomAD
CA342987266
rs1295275943
289 Q>R No ClinGen
TOPMed
TCGA novel 290 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1178221
rs140583445
291 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1178222
rs140583445
291 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1178223
rs375741058
292 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145809444
CA1178224
293 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145809444
CA1178225
293 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1178227
rs142766597
294 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1178228
rs142766597
294 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA342987299
rs1333067532
295 W>R No ClinGen
gnomAD
rs778952737
CA1178229
295 W>S No ClinGen
ExAC
gnomAD
CA1178253
rs749493376
297 G>R No ClinGen
ExAC
gnomAD
CA1178254
rs137976547
298 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342987440
rs1571068667
299 Y>S No ClinGen
Ensembl
CA342987450
rs972355579
300 T>N No ClinGen
TOPMed
CA31220774
rs972355579
300 T>S No ClinGen
TOPMed
TCGA novel 301 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1025315515
CA31220777
301 S>P No ClinGen
Ensembl
rs760036601
CA1178256
302 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA1178255
rs774406527
302 M>T No ClinGen
ExAC
gnomAD
CA342987481
rs1264733068
304 L>M No ClinGen
TOPMed
gnomAD
rs1490039538
CA342987505
306 A>S No ClinGen
gnomAD
rs767850265
CA1178257
306 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1178258
rs371189130
308 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440071537
CA342987525
308 A>V No ClinGen
TOPMed
rs760905720
CA1178259
309 V>I No ClinGen
ExAC
gnomAD
TCGA novel 310 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771849884
CA31220805
311 A>S No ClinGen
Ensembl
rs764487486
CA1178260
311 A>V No ClinGen
ExAC
gnomAD
rs756955835
CA342987545
312 C>F No ClinGen
ExAC
gnomAD
CA1178262
rs756955835
312 C>S No ClinGen
ExAC
gnomAD
rs764844829
CA1178263
313 L>F No ClinGen
ExAC
gnomAD
rs543208774
CA1178264
316 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs543208774
CA31220849
316 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1015180156
CA31220867
317 L>F No ClinGen
TOPMed
gnomAD
rs1336157900
CA342987573
317 L>H No ClinGen
gnomAD
CA342987581
rs1406758325
318 I>M No ClinGen
TOPMed
CA1178266
rs779817716
318 I>T No ClinGen
ExAC
gnomAD
CA1178268
rs754781761
320 G>S No ClinGen
ExAC
gnomAD
CA1178269
rs140353863
322 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA31220900
rs140353863
322 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA342987610
rs1270990954
323 S>F No ClinGen
TOPMed
gnomAD
rs774424909
CA1178272
324 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771070810
CA1178271
324 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA342987623
rs1185754587
326 K>E No ClinGen
gnomAD
CA342987637
rs1384814626
328 Q>K No ClinGen
gnomAD
CA342987641
rs1425402860
328 Q>R No ClinGen
gnomAD
COSM3399837
rs772663580
CA1178274
329 T>I Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA342987693
rs1453004060
330 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs747537286
CA1178294
331 Y>C No ClinGen
ExAC
gnomAD
rs747537286
CA342987699
331 Y>S No ClinGen
ExAC
gnomAD
rs769149377
CA1178295
333 G>V No ClinGen
ExAC
gnomAD
rs777157013
CA342987725
334 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs777157013
COSM1601019
CA1178296
334 V>I Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD

No associated diseases with P15813

3 regional properties for P15813

Type Name Position InterPro Accession
domain Immunoglobulin C1-set 219 - 289 IPR003597
domain Immunoglobulin-like domain 185 - 292 IPR007110
domain MHC class I-like antigen recognition-like 1 - 198 IPR011161

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
  • Basolateral cell membrane ; Single-pass type I membrane protein
  • Endosome membrane ; Single-pass type I membrane protein
  • Lysosome membrane ; Single-pass type I membrane protein
  • Endoplasmic reticulum membrane ; Single-pass type I membrane protein
  • Subject to intracellular trafficking between the cell membrane, endosomes and lysosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cell surface The external part of the cell wall and/or plasma membrane.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
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 plasma membrane The component of the plasma 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.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name Definition
beta-2-microglobulin binding Binding to beta-2-microglobulin.
cell adhesion molecule binding Binding to a cell adhesion molecule.
endogenous lipid antigen binding Binding to an endogenous cellular lipid antigen.
exogenous lipid antigen binding Binding to an exogenous lipid antigen (examples include microbial lipids and glycolipids).
histone binding Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
lipid antigen binding Binding to a lipid antigen.
lipopeptide binding Binding to a lipopeptide, any of a group of organic compounds comprising two or more amino acids linked by peptide bonds and containing a nonprotein group consisting of a lipid or lipids.

9 GO annotations of biological process

Name Definition
antigen processing and presentation, endogenous lipid antigen via MHC class Ib The process in which an antigen-presenting cell expresses lipid antigen of endogenous origin in association with an MHC class Ib protein complex on its cell surface. Class Ib here refers to non-classical class I molecules, such as those of the CD1 family.
antigen processing and presentation, exogenous lipid antigen via MHC class Ib The process in which an antigen-presenting cell expresses lipid antigen of exogenous origin in association with an MHC class Ib protein complex on its cell surface. Class Ib here refers to non-classical class I molecules, such as those of the CD1 family.
detection of bacterium The series of events in which a stimulus from a bacterium is received and converted into a molecular signal.
heterotypic cell-cell adhesion The attachment of a cell to a cell of a different type via adhesion molecules.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
positive regulation of innate immune response Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.
positive regulation of T cell mediated cytotoxicity Any process that activates or increases the frequency, rate or extent of T cell mediated cytotoxicity.
positive regulation of T cell proliferation Any process that activates or increases the rate or extent of T cell proliferation.
T cell selection The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q4ACW4 CD1D Antigen-presenting glycoprotein CD1d Pan troglodytes (Chimpanzee) PR
P29017 CD1C T-cell surface glycoprotein CD1c Homo sapiens (Human) PR
Q9BZM4 ULBP3 UL16-binding protein 3 Homo sapiens (Human) PR
P55899 FCGRT IgG receptor FcRn large subunit p51 Homo sapiens (Human) PR
Q63493 Cd1d Antigen-presenting glycoprotein CD1d Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MGCLLFLLLW ALLQAWGSAE VPQRLFPLRC LQISSFANSS WTRTDGLAWL GELQTHSWSN
70 80 90 100 110 120
DSDTVRSLKP WSQGTFSDQQ WETLQHIFRV YRSSFTRDVK EFAKMLRLSY PLELQVSAGC
130 140 150 160 170 180
EVHPGNASNN FFHVAFQGKD ILSFQGTSWE PTQEAPLWVN LAIQVLNQDK WTRETVQWLL
190 200 210 220 230 240
NGTCPQFVSG LLESGKSELK KQVKPKAWLS RGPSPGPGRL LLVCHVSGFY PKPVWVKWMR
250 260 270 280 290 300
GEQEQQGTQP GDILPNADET WYLRATLDVV AGEAAGLSCR VKHSSLEGQD IVLYWGGSYT
310 320 330
SMGLIALAVL ACLLFLLIVG FTSRFKRQTS YQGVL