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

4 structures for P43357

Entry ID Method Resolution Chain Position Source
1QEW X-ray 220 A C 271-279 PDB
4V0P X-ray 207 A A 104-314 PDB
5BRZ X-ray 262 A C 168-176 PDB
AF-P43357-F1 Predicted AlphaFoldDB

366 variants for P43357

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1556825929
CA10544563
2 P>S No ClinGen
TOPMed
CA415061327
rs1556825941
8 Q>H No ClinGen
gnomAD
rs35123853
CA415061385
10 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 12 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415061462
rs1556825947
13 E>V No ClinGen
gnomAD
CA415061488
rs1556825950
14 E>K No ClinGen
gnomAD
CA415061531
rs782264103
16 L>F No ClinGen
1000Genomes
gnomAD
TCGA novel 17 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 18 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1478258146
CA415061596
19 R>G No ClinGen
TOPMed
gnomAD
CA10544562
rs1556825956
19 R>Q No ClinGen
gnomAD
TCGA novel 21 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782489065
CA415061652
21 E>Q No ClinGen
ExAC
gnomAD
CA415061689
rs1556825959
22 A>G No ClinGen
gnomAD
CA415061710
rs1569458710
24 G>C No ClinGen
Ensembl
CA415061751
rs1426131243
26 V>L No ClinGen
TOPMed
CA415061777
rs1556825964
27 G>D No ClinGen
gnomAD
rs782605651
CA10544561
28 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1556825973
CA415061802
29 Q>* No ClinGen
gnomAD
rs782454114
CA415061820
31 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA415061821
rs782454114
31 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs782454114
CA415061819
31 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1436053705
CA415061829
32 A>S No ClinGen
TOPMed
CA415061899
rs1556825979
CA415061901
35 E>D No ClinGen
gnomAD
rs782679870
CA415061910
36 Q>E No ClinGen
ExAC
gnomAD
rs782282148
CA415061919
36 Q>R No ClinGen
ExAC
gnomAD
rs1556825990
CA415061935
37 E>Q No ClinGen
gnomAD
rs1556825992
CA415061960
38 A>T No ClinGen
gnomAD
rs1602852368
CA415062017
41 S>Y No ClinGen
Ensembl
CA415062028
rs1556826007
42 S>T No ClinGen
gnomAD
CA415062060
rs1272002095
43 S>F No ClinGen
TOPMed
rs1556826021
CA415062128
46 V>A No ClinGen
Ensembl
CA415062120
rs1319547122
46 V>I No ClinGen
TOPMed
CA415062143
rs1569458742
47 E>K No ClinGen
Ensembl
CA415062172
rs1355489850
48 V>G No ClinGen
TOPMed
rs1556826028
CA10544556
48 V>L No ClinGen
TOPMed
rs1556826046
CA415062233
51 G>E No ClinGen
gnomAD
CA415062257
rs1556826051
52 E>D No ClinGen
gnomAD
rs782415871
CA337178863
53 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs782415871
CA10544549
53 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 56 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415062348
rs1402923812
56 A>V No ClinGen
TOPMed
CA415062383
rs1556826067
57 E>D No ClinGen
gnomAD
CA415062362
rs1475020079
57 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs782113261
CA415062377
57 E>V No ClinGen
ExAC
gnomAD
rs144481382
CA10544547
60 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144481382
CA415062417
60 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1556826075
CA415062450
62 P>L No ClinGen
gnomAD
CA337178901
rs1556826083
63 Q>H No ClinGen
gnomAD
rs781911633
CA415062481
64 S>N No ClinGen
ExAC
gnomAD
rs1556826086
CA10544541
66 Q>R No ClinGen
TOPMed
rs1556826094
CA415062527
68 A>G No ClinGen
TOPMed
CA337178938
rs1556826088
68 A>S No ClinGen
TOPMed
CA415062532
rs1556826098
69 S>P No ClinGen
gnomAD
CA415062540
rs1458882797
70 S>R No ClinGen
TOPMed
rs782533858
CA415062563
71 L>P No ClinGen
ExAC
gnomAD
CA415062580
rs782667045
72 P>L No ClinGen
ExAC
gnomAD
rs781830379
CA415062588
73 T>N No ClinGen
ExAC
gnomAD
rs1271064035
CA415062598
74 T>A No ClinGen
TOPMed
TCGA novel 75 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415062606
rs376199306
75 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1556826133
CA415062614
75 M>T No ClinGen
TOPMed
gnomAD
CA415062608
rs376199306
75 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415062631
rs1321992954
76 N>S No ClinGen
TOPMed
CA10544536
rs782179243
77 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1556826135
CA415062641
77 Y>H No ClinGen
gnomAD
rs1221634514
CA415062678
78 P>R No ClinGen
TOPMed
rs782420250
CA10544535
78 P>S No ClinGen
ExAC
gnomAD
rs1309096110
CA415062738
80 W>C No ClinGen
TOPMed
CA415062763
rs782664023
81 S>N No ClinGen
ExAC
gnomAD
rs1448194730
CA415062769
81 S>R No ClinGen
TOPMed
gnomAD
rs371118717
CA415062823
83 S>C No ClinGen
ESP
ExAC
gnomAD
rs371118717
CA415062821
83 S>F No ClinGen
ESP
ExAC
gnomAD
CA415062849
rs782081925
84 Y>C No ClinGen
ExAC
gnomAD
rs1379524477
CA415062837
84 Y>D No ClinGen
TOPMed
CA415062852
rs782081925
84 Y>F No ClinGen
ExAC
gnomAD
CA10544534
rs782328621
86 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs782328621
CA337179002
86 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1556826182
CA415063018
90 Q>K No ClinGen
gnomAD
TCGA novel 91 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10544530
rs782041540
94 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs782802426
CA415063230
95 P>L No ClinGen
ExAC
gnomAD
TCGA novel 96 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415063292
rs782089346
98 F>S No ClinGen
ExAC
gnomAD
CA415063306
rs782715078
99 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA415063302
rs782715078
99 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs781797577
CA415063320
100 D>N No ClinGen
ExAC
gnomAD
CA10544525
rs1556826208
102 E>G No ClinGen
TOPMed
CA415063368
rs1556826207
102 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA337179050
rs1556826223
104 E>D No ClinGen
TOPMed
CA415063394
rs782091871
104 E>K No ClinGen
1000Genomes
ExAC
TOPMed
CA10544523
rs782091871
104 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
TCGA novel 106 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376254989
CA415063494
108 A>G No ClinGen
ESP
ExAC
gnomAD
rs782224756
CA10544517
109 L>I No ClinGen
ExAC
gnomAD
CA10544516
rs782483422
110 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs782578721
CA415063580
110 S>R No ClinGen
ExAC
gnomAD
rs1556826230
CA415063558
110 S>R No ClinGen
gnomAD
CA337179098
rs782483422
110 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1556826235
CA415063630
112 K>E No ClinGen
gnomAD
CA337179109
rs142634954
113 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA519163440
rs1248162986
115 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415063729
rs782270510
115 E>G No ClinGen
ExAC
gnomAD
CA10544511
RCV000900798
rs1248162986
115 E>K No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1248162986
CA519163439
115 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1556826263
CA415063797
118 H>P No ClinGen
gnomAD
rs1556826261
CA415063796
118 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs782382036
CA415063805
119 F>I No ClinGen
ExAC
gnomAD
rs782382036
CA415063807
119 F>L No ClinGen
ExAC
gnomAD
rs782056374
CA415063882
122 L>F No ClinGen
ExAC
gnomAD
TCGA novel 122 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782700886
CA415063897
123 K>Q No ClinGen
ExAC
gnomAD
rs1569458897
CA415063918
124 Y>C No ClinGen
Ensembl
COSM1117176
CA10544507
rs782026359
125 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs782026359
CA337179219
125 R>G No ClinGen
ExAC
gnomAD
CA10544505
rs140660790
125 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337179268
rs1556826293
126 A>D No ClinGen
TOPMed
gnomAD
CA10544503
rs1556826293
126 A>V No ClinGen
TOPMed
gnomAD
CA415063942
rs1301683493
127 R>K No ClinGen
TOPMed
gnomAD
CA415063954
rs782474244
128 E>Q No ClinGen
ExAC
gnomAD
CA10544502
rs370292729
129 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA337179283
rs370292729
129 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1386626430
CA415063965
129 P>S No ClinGen
TOPMed
CA10544500
rs782497930
130 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA337179310
rs782497930
130 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1428918230
CA415063985
131 T>P No ClinGen
TOPMed
TCGA novel 134 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415064047
rs1556826320
135 M>I No ClinGen
gnomAD
rs1359938410
CA415064038
135 M>V No ClinGen
TOPMed
CA10544497
rs782317072
137 G>E No ClinGen
ExAC
gnomAD
rs1556826327
CA415064080
138 S>T No ClinGen
gnomAD
rs1556826333
CA337179334
139 V>I No ClinGen
gnomAD
rs782278365
COSM457002
CA10544494
140 V>I Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA337179348
rs782278365
140 V>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1466420
CA10544491
rs150014878
141 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA415064126
rs1172778460
142 N>D No ClinGen
TOPMed
rs1556826362
CA10544488
CA415064148
143 W>C No ClinGen
gnomAD
CA10544489
rs145228268
143 W>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415064138
rs1556826352
143 W>R No ClinGen
gnomAD
CA10544490
rs145228268
143 W>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415064157
rs782730060
144 Q>P No ClinGen
ExAC
gnomAD
rs1556826367
CA10544486
145 Y>D No ClinGen
gnomAD
rs782657742
CA415064170
COSM755845
146 F>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1556826380
COSM755845
CA10544483
146 F>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1556826383
CA415064183
147 F>L No ClinGen
gnomAD
CA415064190
rs782051609
147 F>Y No ClinGen
ExAC
gnomAD
rs782712845
CA415064208
148 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1556826393
CA415064220
149 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA415064214
rs781881814
149 V>M No ClinGen
ExAC
gnomAD
rs1485362196
CA415064240
151 F>L No ClinGen
TOPMed
TCGA novel 152 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs7056365
VAR_053493
CA10544480
152 S>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10544479
rs1556826402
152 S>R No ClinGen
TOPMed
rs1556826413
CA10544478
153 K>E No ClinGen
TOPMed
CA10544477
rs373650973
154 A>P No ClinGen
ESP
TOPMed
gnomAD
CA415064282
rs373650973
154 A>S No ClinGen
ESP
TOPMed
gnomAD
CA415064280
rs373650973
154 A>T No ClinGen
ESP
TOPMed
gnomAD
CA415064296
rs1556826426
155 S>C No ClinGen
gnomAD
rs782460836
CA519163721
156 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs782460836
CA10544475
RCV000893782
156 S>G No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA10544474
rs782764980
RCV000897126
156 S>N No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1212998540
CA415064307
156 S>R No ClinGen
TOPMed
gnomAD
CA415064317
rs1340187332
157 S>Y No ClinGen
TOPMed
gnomAD
rs1298872460
CA415064339
159 Q>L No ClinGen
TOPMed
gnomAD
rs1298872460
CA415064337
159 Q>P No ClinGen
TOPMed
gnomAD
rs782694559
CA337179518
164 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA10544472
rs782694559
164 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs782244390
CA415064371
165 E>A No ClinGen
ExAC
gnomAD
CA10544471
rs1556826458
165 E>K No ClinGen
gnomAD
CA415064376
rs781822580
166 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA415064377
rs781822580
166 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10544469
rs782594164
167 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1168114187
CA415064382
167 M>L No ClinGen
TOPMed
gnomAD
rs1168114187
CA415064383
167 M>V No ClinGen
TOPMed
gnomAD
rs782233501
CA415064422
169 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA415064423
rs782233501
169 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1556826479
CA415064418
169 V>M No ClinGen
gnomAD
CA415064435
rs1556826490
170 D>V No ClinGen
gnomAD
rs1556826499
CA10544466
173 G>S No ClinGen
TOPMed
gnomAD
rs782147006
CA415064485
173 G>V No ClinGen
ExAC
gnomAD
CA415064502
rs782412538
174 H>L No ClinGen
ExAC
gnomAD
rs781981002
CA415064506
174 H>Q No ClinGen
ExAC
TOPMed
CA10544465
rs1556826506
174 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1200348365
CA415064514
175 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1200348365
COSM1466419
CA10544464
175 L>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10544462
rs1556826532
178 F>L No ClinGen
TOPMed
gnomAD
rs375835600
CA10544461
179 A>V No ClinGen
ESP
ExAC
gnomAD
rs782075446
CA415064645
180 T>A No ClinGen
ExAC
gnomAD
CA415064653
rs1258115634
180 T>I No ClinGen
TOPMed
CA415064671
rs1556826546
181 C>S No ClinGen
gnomAD
rs782802387
CA415064703
183 G>A No ClinGen
ExAC
gnomAD
CA415064701
rs782802387
183 G>D No ClinGen
ExAC
gnomAD
CA10544458
rs1556826552
183 G>S No ClinGen
TOPMed
gnomAD
rs781902716
CA415064726
184 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10544457
rs781902716
184 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1556826567
CA415064750
185 S>C No ClinGen
TOPMed
CA415064744
rs1556826565
185 S>P No ClinGen
gnomAD
CA415064770
rs781824026
186 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA415064761
rs1220719013
186 Y>H No ClinGen
TOPMed
rs1556826582
COSM1715827
CA10544455
187 D>N Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA415028117
rs1556826586
188 G>S No ClinGen
gnomAD
rs1569459068
CA415028131
190 L>Q No ClinGen
Ensembl
rs1556826592
CA10544453
191 G>C No ClinGen
TOPMed
gnomAD
CA337159296
rs1556826592
191 G>R No ClinGen
TOPMed
gnomAD
rs782405934
CA415028148
192 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA415028167
rs782678450
193 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs782243919
CA415028187
194 Q>H No ClinGen
ExAC
gnomAD
rs782388710
CA337159308
195 I>L No ClinGen
ExAC
gnomAD
CA415028195
rs1172316168
195 I>T No ClinGen
TOPMed
CA415028227
rs781944468
198 K>Q No ClinGen
ExAC
gnomAD
CA415028235
rs145852745
198 K>R No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA415028247
rs1367348655
199 A>E No ClinGen
TOPMed
CA10544446
rs1459578488
199 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1367348655
CA415028244
199 A>V No ClinGen
TOPMed
CA415028261
rs1556826635
200 G>A No ClinGen
gnomAD
CA415028251
rs782024175
200 G>R No ClinGen
ExAC
gnomAD
rs1556826637
CA10544444
201 L>F No ClinGen
ExAC
gnomAD
rs1175992732
CA415028320
205 V>A No ClinGen
TOPMed
rs1258965349
CA10544441
205 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1258965349
CA415028316
205 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA415028338
rs1556826664
207 A>D No ClinGen
TOPMed
rs782082209
CA10544437
209 I>V No ClinGen
ExAC
gnomAD
rs782793391
CA415028374
210 A>E No ClinGen
ExAC
gnomAD
rs150714849
CA10544435
210 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150714849
CA337159475
COSM1117172
210 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782793391
CA415028379
210 A>V No ClinGen
ExAC
gnomAD
CA10544434
rs1333026174
211 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10544433
rs1556826697
212 E>Q No ClinGen
TOPMed
rs1245694960
CA415028418
213 G>V No ClinGen
TOPMed
rs868907159
CA415028425
214 D>N No ClinGen
Ensembl
CA415028442
rs137998711
215 C>S No ClinGen
ESP
ExAC
gnomAD
CA415028451
rs782646104
216 A>V No ClinGen
ExAC
gnomAD
CA415028457
rs782281854
217 P>L No ClinGen
ExAC
gnomAD
rs782281854
CA415028456
217 P>R No ClinGen
ExAC
gnomAD
rs368156903
CA415028454
217 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1569459122
CA415028468
219 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 220 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415028505
rs1304704216
223 E>D No ClinGen
TOPMed
rs1445987379
CA415028512
224 E>D No ClinGen
TOPMed
CA415028523
rs782441448
226 S>T No ClinGen
ExAC
gnomAD
CA415028530
rs781988021
227 V>A No ClinGen
ExAC
gnomAD
TCGA novel 228 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556826774
CA10544430
229 E>Q No ClinGen
TOPMed
TCGA novel 229 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA337159545
CA337159554
rs201532747
230 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10544429
rs201532747
230 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415028551
rs782051087
231 F>L No ClinGen
ExAC
CA415028559
rs1556826797
232 E>Q No ClinGen
gnomAD
CA415028571
rs782250868
233 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs149483923
CA415028568
233 G>W No ClinGen
ESP
ExAC
gnomAD
rs782156750
CA415028580
235 E>* No ClinGen
ExAC
gnomAD
CA415028583
rs782758488
235 E>V No ClinGen
ExAC
gnomAD
CA337159579
rs781867592
236 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA10544426
rs1556826819
236 D>G No ClinGen
TOPMed
TCGA novel 236 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782468131
CA415028590
237 S>G No ClinGen
ExAC
gnomAD
rs1556826838
CA415028597
238 I>L No ClinGen
gnomAD
CA415028599
rs1556826838
238 I>V No ClinGen
gnomAD
CA10544423
rs1239145925
CA519163686
239 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10544424
rs1556826840
239 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA415028606
rs782554920
CA415028605
240 G>R No ClinGen
ExAC
gnomAD
rs1556826867
CA10544420
242 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA337159638
rs1556826867
242 P>T No ClinGen
TOPMed
gnomAD
rs1556826871
CA415028625
243 K>R No ClinGen
gnomAD
CA10544419
rs782681690
245 L>V No ClinGen
ExAC
gnomAD
rs782517657
CA415028647
247 T>A No ClinGen
ExAC
gnomAD
rs1358494889
CA519163712
249 H>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10544416
rs1358494889
249 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1259074679
CA415028667
250 F>C No ClinGen
TOPMed
CA10544415
rs782271747
250 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA337159703
rs376647411
COSM755846
251 V>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10544414
rs376647411
251 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1556826914
CA10544413
252 Q>R No ClinGen
TOPMed
CA415028681
rs1556826925
253 E>G No ClinGen
gnomAD
CA10544412
rs1556826927
254 N>D No ClinGen
TOPMed
rs1556826927
CA337159749
254 N>H No ClinGen
TOPMed
rs1556826932
CA415028686
254 N>S No ClinGen
gnomAD
rs1438530084
CA415028695
255 Y>F No ClinGen
TOPMed
CA10544410
rs1556826939
257 E>Q No ClinGen
TOPMed
CA415028715
rs782723696
258 Y>C No ClinGen
ExAC
gnomAD
rs782707643
CA415028723
259 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs782707643
CA415028721
259 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782045437
CA415028720
259 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA415028725
rs782117916
260 Q>E No ClinGen
ExAC
gnomAD
rs782797722
CA415028730
260 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA10544409
rs782491242
261 V>G No ClinGen
ExAC
gnomAD
CA415028732
rs781824205
261 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA415028737
rs782534869
262 P>H No ClinGen
ExAC
rs782534869
CA415028738
262 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1160976495
CA415028740
263 G>D No ClinGen
TOPMed
gnomAD
rs782603431
CA10544405
263 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA415028748
rs782220564
264 S>N No ClinGen
ExAC
gnomAD
TCGA novel 264 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415028746
rs782220564
264 S>T No ClinGen
ExAC
gnomAD
TCGA novel 265 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10544401
rs371872627
266 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 266 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10544400
rs781930988
266 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA415028756
rs371872627
266 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415028757
rs371872627
266 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415028759
rs374730078
267 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415028758
rs374730078
267 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782087165
CA337159896
268 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs782087165
CA10544399
268 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA415028771
rs782068507
269 Y>C No ClinGen
ExAC
gnomAD
CA415028768
rs781793265
269 Y>H No ClinGen
ExAC
gnomAD
rs12846936
CA415028782
270 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA415028790
rs139885560
271 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA415028785
rs782084893
271 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA10544395
rs1556827058
273 W>C No ClinGen
gnomAD
TCGA novel 274 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1343970879
CA415028808
274 G>V No ClinGen
TOPMed
rs1234932431
CA415028812
275 P>Q No ClinGen
TOPMed
rs781819175
CA415028815
276 R>G No ClinGen
ExAC
gnomAD
rs1556827076
CA415028817
276 R>K No ClinGen
gnomAD
rs1556827081
CA415028821
276 R>S No ClinGen
gnomAD
rs782491828
CA337159911
278 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA10544393
rs782491828
278 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA415028832
rs151030550
279 V>A No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs151030550
CA415028833
279 V>D No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA10544391
rs1361909824
COSM611535
279 V>I lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA519163826
rs1361909824
279 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA415028839
rs1556827106
280 E>V No ClinGen
gnomAD
rs1556827109
CA415028849
282 S>G No ClinGen
gnomAD
rs782640650
CA415028851
282 S>N No ClinGen
ExAC
gnomAD
CA415028860
rs372708723
283 Y>C No ClinGen
ESP
ExAC
gnomAD
TCGA novel 283 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781976450
CA415028865
284 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs781976450
CA415028864
284 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA415028876
rs1556827139
285 K>N No ClinGen
gnomAD
CA415028880
rs141015573
286 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA337159928
rs1556827146
287 L>M No ClinGen
gnomAD
rs782165571
CA415028894
288 H>Q No ClinGen
ExAC
gnomAD
rs1413294554
CA415028903
290 M>L No ClinGen
TOPMed
TCGA novel
rs1401909115
CA415028913
291 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
NCI-TCGA
CA337159965
rs1556827154
293 I>L No ClinGen
gnomAD
rs149795670
CA415028930
294 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415028942
rs782733244
296 G>E No ClinGen
ExAC
gnomAD
rs782733244
CA415028944
296 G>V No ClinGen
ExAC
gnomAD
rs1421845987
CA415028946
297 P>A No ClinGen
TOPMed
gnomAD
rs782440006
CA415028948
297 P>L No ClinGen
ExAC
gnomAD
rs1421845987
CA415028947
297 P>S No ClinGen
TOPMed
gnomAD
CA337160027
rs1556827170
298 H>D No ClinGen
TOPMed
CA337160021
rs1556827170
298 H>N No ClinGen
TOPMed
CA519163854
rs1478156944
298 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1556827178
CA337160028
298 H>Q No ClinGen
gnomAD
rs1478156944
CA10544379
298 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10544377
rs1556827180
299 I>V No ClinGen
TOPMed
CA415028965
rs782528948
301 Y>C No ClinGen
ExAC
gnomAD
CA10544376
rs782604854
302 P>L No ClinGen
ExAC
gnomAD
CA337160047
rs782604854
302 P>Q No ClinGen
ExAC
gnomAD
rs1556827186
CA415028971
302 P>S No ClinGen
gnomAD
CA337160056
rs1556827190
303 P>A No ClinGen
TOPMed
gnomAD
rs1202032617
CA10544374
303 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1556827190
CA337160057
303 P>S No ClinGen
TOPMed
gnomAD
CA415028979
rs782580627
305 H>Y No ClinGen
ExAC
gnomAD
rs782274286
CA415028984
306 E>K No ClinGen
ExAC
gnomAD
CA10544369
rs782418549
CA337160119
307 W>R No ClinGen
ExAC
TOPMed
gnomAD
RCV000958044
CA10544367
rs1290943393
308 V>A No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA415028995
rs1556827209
308 V>I No ClinGen
gnomAD
CA337160139
CA10544365
RCV000958043
rs782339504
309 L>F No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs782264205
CA415029001
309 L>S No ClinGen
ExAC
TOPMed
CA337160143
rs1556827244
CA10544363
311 E>D No ClinGen
TOPMed
rs781963365
CA415029011
311 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782046696
CA10544364
311 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA415029017
rs1466365767
312 G>R No ClinGen
TOPMed

No associated diseases with P43357

2 regional properties for P43357

Type Name Position InterPro Accession
domain MAGE homology domain 109 - 308 IPR002190
domain Melanoma associated antigen, N-terminal 3 - 96 IPR021072

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
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).
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name Definition
caspase binding Binding to a caspase family protein.
histone deacetylase binding Binding to histone deacetylase.

5 GO annotations of biological process

Name Definition
negative regulation of autophagy Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process.
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of an endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway.
negative regulation of protein processing Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.

17 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P43356 MAGEA2B Melanoma-associated antigen 2 Homo sapiens (Human) PR
O15479 MAGEB2 Melanoma-associated antigen B2 Homo sapiens (Human) PR
O15480 MAGEB3 Melanoma-associated antigen B3 Homo sapiens (Human) PR
P43355 MAGEA1 Melanoma-associated antigen 1 Homo sapiens (Human) PR
P43358 MAGEA4 Melanoma-associated antigen 4 Homo sapiens (Human) PR
P43360 MAGEA6 Melanoma-associated antigen 6 Homo sapiens (Human) PR
P43361 MAGEA8 Melanoma-associated antigen 8 Homo sapiens (Human) PR
P43363 MAGEA10 Melanoma-associated antigen 10 Homo sapiens (Human) PR
P43365 MAGEA12 Melanoma-associated antigen 12 Homo sapiens (Human) PR
Q8TD90 MAGEE2 Melanoma-associated antigen E2 Homo sapiens (Human) PR
Q96MG7 NSMCE3 Non-structural maintenance of chromosomes element 3 homolog Homo sapiens (Human) PR
Q9BZ81 MAGEB5 Melanoma-associated antigen B5 Homo sapiens (Human) PR
Q9HAY2 MAGEF1 Melanoma-associated antigen F1 Homo sapiens (Human) PR
P43364 MAGEA11 Melanoma-associated antigen 11 Homo sapiens (Human) PR
Q9UNF1 MAGED2 Melanoma-associated antigen D2 Homo sapiens (Human) PR
Q9Y5V3 MAGED1 Melanoma-associated antigen D1 Homo sapiens (Human) PR
Q96JG8 MAGED4B Melanoma-associated antigen D4 Homo sapiens (Human) PR
10 20 30 40 50 60
MPLEQRSQHC KPEEGLEARG EALGLVGAQA PATEEQEAAS SSSTLVEVTL GEVPAAESPD
70 80 90 100 110 120
PPQSPQGASS LPTTMNYPLW SQSYEDSSNQ EEEGPSTFPD LESEFQAALS RKVAELVHFL
130 140 150 160 170 180
LLKYRAREPV TKAEMLGSVV GNWQYFFPVI FSKASSSLQL VFGIELMEVD PIGHLYIFAT
190 200 210 220 230 240
CLGLSYDGLL GDNQIMPKAG LLIIVLAIIA REGDCAPEEK IWEELSVLEV FEGREDSILG
250 260 270 280 290 300
DPKKLLTQHF VQENYLEYRQ VPGSDPACYE FLWGPRALVE TSYVKVLHHM VKISGGPHIS
310
YPPLHEWVLR EGEE