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

6 structures for Q13596

Entry ID Method Resolution Chain Position Source
2I4K NMR - A 142-269 PDB
4FZS X-ray 280 A A/B 301-522 PDB
8A1G X-ray 250 A A/B 301-522 PDB
8ABQ X-ray 281 A A/B 301-522 PDB
8AFZ EM 1000 A A 1-522 PDB
AF-Q13596-F1 Predicted AlphaFoldDB

411 variants for Q13596

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1466115965
CA392814310
2 A>T No ClinGen
TOPMed
gnomAD
CA392814320
rs1302801480
2 A>V No ClinGen
gnomAD
rs779691030
CA7607556
3 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1315517456
CA392814340
4 G>S No ClinGen
gnomAD
rs754960914
CA7607559
5 G>D No ClinGen
ExAC
gnomAD
rs367760878
CA7607558
5 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1486113842
CA392814372
6 G>D No ClinGen
gnomAD
rs1236864650
CA392814366
6 G>S No ClinGen
gnomAD
CA392814379
rs1390021579
7 G>C No ClinGen
TOPMed
rs1046442862
CA272161450
8 C>R No ClinGen
TOPMed
CA272161452
rs935644420
8 C>Y No ClinGen
TOPMed
rs1477521315
CA392814414
9 S>G No ClinGen
gnomAD
rs769590422
CA7607562
9 S>I No ClinGen
ExAC
gnomAD
CA392814420
rs769590422
9 S>N No ClinGen
ExAC
gnomAD
CA7607563
rs777522910
9 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA7607564
rs748857822
10 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA392814440
rs1413154900
10 A>P No ClinGen
gnomAD
CA392814436
rs1413154900
10 A>T No ClinGen
gnomAD
rs748857822
CA272161475
10 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs775717942
CA7607566
11 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA7607569
rs140656810
12 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 12 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7607568
rs140656810
12 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761251263
CA7607567
12 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA272161485
rs761251263
12 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs140656810
CA7607570
12 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370223175
CA392814511
14 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144432300
CA7607573
15 P>L No ClinGen
ESP
ExAC
gnomAD
rs777617638
CA7607572
15 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA392814562
rs1370505535
16 P>R No ClinGen
TOPMed
CA7607574
rs201234536
16 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392814582
rs1217920055
17 P>L No ClinGen
gnomAD
rs1217920055
CA392814579
17 P>R No ClinGen
gnomAD
CA272161511
rs151109030
17 P>S No ClinGen
ESP
gnomAD
rs754975675
COSM3981603
CA392814626
19 P>L ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs754975675
CA7607576
19 P>R No ClinGen
ExAC
gnomAD
CA392814618
rs1200188674
19 P>S No ClinGen
gnomAD
rs1200188674
CA392814614
19 P>T No ClinGen
gnomAD
CA392814632
rs1477131412
20 G>R No ClinGen
gnomAD
CA392814655
rs1402771287
22 E>K No ClinGen
gnomAD
rs1360390894
CA392814694
23 P>Q No ClinGen
gnomAD
CA7607579
rs201468224
24 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 25 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392814764
rs1332473886
26 E>* No ClinGen
gnomAD
TCGA novel 26 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332473886
CA392814759
26 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7607580
rs777138062
27 G>A No ClinGen
ExAC
gnomAD
rs1433917082
CA392814784
27 G>R No ClinGen
TOPMed
gnomAD
rs200363020
CA7607581
28 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA272161566
rs575758638
28 A>V No ClinGen
Ensembl
TCGA novel 29 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392814831
rs1352814254
29 A>V No ClinGen
gnomAD
CA7607583
rs780484362
30 G>R No ClinGen
ExAC
gnomAD
CA272161589
rs780484362
30 G>W No ClinGen
ExAC
gnomAD
CA7607584
rs747288155
31 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA392814853
rs1449934975
31 G>R No ClinGen
TOPMed
gnomAD
CA392814895
rs1439395754
32 S>L No ClinGen
TOPMed
CA272161598
rs769183939
34 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA7607585
rs769183939
34 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1177115717
CA392814973
36 A>G No ClinGen
gnomAD
rs773160874
CA7607589
37 G>A No ClinGen
ExAC
gnomAD
CA7607588
rs769918313
37 G>R No ClinGen
ExAC
gnomAD
CA392814995
rs1294536431
38 D>N No ClinGen
TOPMed
TCGA novel 38 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs967106242
CA272161607
43 G>R No ClinGen
Ensembl
CA392815109
rs759362417
44 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs774215652
CA7607592
44 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 44 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392815151
rs1323133961
47 F>S No ClinGen
TOPMed
rs372800532
CA7607594
48 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA392815188
rs1306736193
50 A>V No ClinGen
gnomAD
rs1165698776
CA392815198
51 A>G No ClinGen
TOPMed
CA392815207
rs1456816283
52 V>E No ClinGen
TOPMed
TCGA novel 54 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392818416
rs1488757916
55 K>E No ClinGen
TOPMed
rs759807032
CA7607610
56 H>P No ClinGen
ExAC
gnomAD
rs1320072430
CA392818438
56 H>Y No ClinGen
gnomAD
rs141106971
CA272175267
CA392818495
57 Q>H No ClinGen
ESP
TOPMed
gnomAD
CA7607611
rs767490689
57 Q>R No ClinGen
ExAC
gnomAD
CA392818506
rs1202507870
59 P>A No ClinGen
gnomAD
rs775360838
CA7607612
60 K>T No ClinGen
ExAC
gnomAD
rs753420175
CA7607615
61 I>K No ClinGen
ExAC
gnomAD
rs763892941
CA7607614
61 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA392818553
rs1314087998
62 T>A No ClinGen
TOPMed
CA272175288
rs374702600
63 T>A No ClinGen
ESP
TOPMed
rs1478499392
CA392818580
64 S>A No ClinGen
gnomAD
rs1219795209
CA392818596
65 L>F No ClinGen
TOPMed
rs761270016
CA7607617
COSM193597
67 P>A large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs750135323
CA7607618
67 P>H No ClinGen
ExAC
gnomAD
rs761270016
CA392818621
67 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs761270016
CA7607616
67 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA392818629
rs1399995922
68 I>F No ClinGen
gnomAD
CA7607621
rs753001540
69 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs781539376
CA7607620
69 N>S No ClinGen
ExAC
gnomAD
CA272175309
rs150183282
72 S>C No ClinGen
ESP
TOPMed
gnomAD
rs765271417
CA7607622
73 K>E No ClinGen
ExAC
gnomAD
CA272175315
rs907807186
75 N>D No ClinGen
TOPMed
rs138725192
CA7607623
76 G>A No ClinGen
ESP
ExAC
TOPMed
CA7607625
rs770962999
77 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs1235910793
CA392818769
77 I>N No ClinGen
gnomAD
rs1254689405
CA392818778
78 H>N No ClinGen
gnomAD
CA392818784
rs1344748296
78 H>P No ClinGen
TOPMed
gnomAD
CA392818786
rs1344748296
78 H>R No ClinGen
TOPMed
gnomAD
CA392818813
rs1422058548
80 E>K No ClinGen
TOPMed
rs377404172
CA272175329
81 Q>E No ClinGen
ESP
CA392818911
rs1173278342
85 P>S No ClinGen
TOPMed
CA392818924
rs1478386739
86 Q>* No ClinGen
TOPMed
TCGA novel 86 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392818920
rs1478386739
86 Q>K No ClinGen
TOPMed
CA7607655
rs747232429
91 D>E No ClinGen
ExAC
gnomAD
TCGA novel 92 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7607656
rs768395868
94 V>M No ClinGen
ExAC
gnomAD
rs761660161
CA7607658
95 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs776483256
CA7607657
95 E>Q No ClinGen
ExAC
gnomAD
rs1482440668
CA392820074
99 D>N No ClinGen
TOPMed
rs1466389480
CA392820088
100 S>R No ClinGen
TOPMed
gnomAD
CA392820091
rs1567323913
101 T>A No ClinGen
Ensembl
rs186954122
CA7607659
103 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1206654268
CA392820116
104 N>I No ClinGen
gnomAD
rs1303952606
CA392820122
105 Q>P No ClinGen
gnomAD
rs1381918495
CA392820139
107 K>R No ClinGen
gnomAD
CA392820144
rs762409802
108 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7607661
rs762409802
108 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA392820164
rs1294099573
111 K>R No ClinGen
TOPMed
rs1049501
CA392820190
115 S>F No ClinGen
TOPMed
gnomAD
CA272177231
rs1049501
VAR_052477
115 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
UniProt
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA272177233
rs1021544217
117 P>S No ClinGen
Ensembl
CA7607664
rs759211566
118 P>L No ClinGen
ExAC
gnomAD
CA392820215
rs1197738473
120 E>K No ClinGen
gnomAD
rs764430840
CA7607665
120 E>V No ClinGen
ExAC
gnomAD
CA392820235
rs1306118042
123 N>D No ClinGen
TOPMed
rs147060442
CA272177236
124 S>C No ClinGen
ESP
rs138423671
CA7607666
125 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs1199521055
CA392820275
129 P>A No ClinGen
gnomAD
rs200079069
CA392820277
129 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs200079069
CA7607669
129 P>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7607670
rs765803225
130 T>A No ClinGen
ExAC
gnomAD
CA392820288
rs1361249309
131 Y>C No ClinGen
gnomAD
CA392820285
rs1177151327
131 Y>H No ClinGen
gnomAD
rs780268818
CA7607673
133 E>D No ClinGen
ExAC
gnomAD
CA7607701
rs770784911
140 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7607703
rs745345629
141 D>E No ClinGen
ExAC
gnomAD
rs1334953756
CA392820374
141 D>V No ClinGen
TOPMed
CA7607704
rs368778345
143 F>C No ClinGen
ESP
ExAC
gnomAD
rs904337775
CA272177375
146 T>A No ClinGen
Ensembl
CA392820480
rs1236227669
146 T>I No ClinGen
TOPMed
rs770349136
CA7607708
148 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs770349136
CA7607707
148 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs968498504
CA272177380
149 I>L No ClinGen
TOPMed
rs763569564
CA7607709
152 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA7607710
rs766859700
153 E>Q No ClinGen
ExAC
gnomAD
CA7607711
rs751620305
155 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1232939902
CA392821612
157 D>N No ClinGen
gnomAD
CA392821616
rs1232939902
157 D>Y No ClinGen
gnomAD
rs1035097807
CA272178508
159 M>I No ClinGen
Ensembl
CA7607730
rs774971028
162 Y>* No ClinGen
ExAC
gnomAD
rs574871557
CA7607731
163 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1443434687
CA392821720
170 Q>* No ClinGen
TOPMed
gnomAD
rs1443434687
CA392821719
170 Q>E No ClinGen
TOPMed
gnomAD
TCGA novel 170 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1399928802
CA392822048
172 S>N No ClinGen
TOPMed
gnomAD
rs142792307
CA7607755
172 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7607757
rs750128841
173 L>S No ClinGen
ExAC
gnomAD
TCGA novel 176 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 177 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7607758
rs566105118
180 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766377028
CA7607759
CA7607760
181 F>L No ClinGen
ExAC
gnomAD
TCGA novel 181 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1333150637
CA392822249
183 V>I No ClinGen
TOPMed
rs1432464483
CA392822266
184 K>R No ClinGen
TOPMed
rs1347722595
CA392822292
187 F>Y No ClinGen
TOPMed
gnomAD
rs754583956
CA7607761
188 S>N No ClinGen
ExAC
gnomAD
CA392822321
rs149753651
191 L>M No ClinGen
1000Genomes
ExAC
gnomAD
rs747897527
CA7607763
191 L>P No ClinGen
ExAC
gnomAD
CA7607762
rs149753651
191 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs908015912
CA272179114
192 G>D No ClinGen
TOPMed
rs755651604
CA7607764
194 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 197 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7607765
rs779345580
199 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1237253649
CA392822380
200 K>T No ClinGen
TOPMed
CA392822402
rs1362579634
203 Q>P No ClinGen
TOPMed
gnomAD
rs200154930
CA7607768
204 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1204465320
CA392822423
206 F>Y No ClinGen
TOPMed
rs1288543769
CA392822445
209 P>L No ClinGen
gnomAD
CA392822452
rs1306881491
210 P>L No ClinGen
TOPMed
rs1388900478
CA392822463
212 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1312066405
CA392822484
215 S>N No ClinGen
gnomAD
rs765330212
CA7607773
216 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs967373708
CA272179130
217 I>T No ClinGen
Ensembl
rs774219147
CA7607795
219 M>T No ClinGen
ExAC
gnomAD
CA7607794
rs770916921
219 M>V No ClinGen
ExAC
gnomAD
rs759556508
CA7607796
224 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs977537377
CA272179383
225 G>R No ClinGen
TOPMed
gnomAD
rs977537377
CA392822559
225 G>W No ClinGen
TOPMed
gnomAD
rs1461982396
CA392822566
226 K>M No ClinGen
TOPMed
gnomAD
CA7607797
rs767509497
227 E>K No ClinGen
ExAC
gnomAD
CA7607798
rs1555492288
228 D>V No ClinGen
Ensembl
CA7607801
rs535080872
229 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374560896
CA7607800
229 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs535080872
CA392822587
229 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392822592
rs1291064201
230 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA392822598
rs1354368914
231 S>Y No ClinGen
gnomAD
rs1312836943
CA392822604
232 A>E No ClinGen
TOPMed
rs985002276
CA272179390
236 E>G No ClinGen
TOPMed
rs763649714
CA7607802
236 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs985002276
CA392822632
236 E>V No ClinGen
TOPMed
CA7607803
rs753505220
237 K>R No ClinGen
ExAC
gnomAD
rs756840245
CA7607804
238 R>Q No ClinGen
ExAC
gnomAD
rs1305522790
CA392822643
238 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 239 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370512858
CA392822655
240 A>T No ClinGen
TOPMed
CA7607806
rs751872912
240 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA392822659
rs781592699
241 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA7607808
rs781592699
241 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs765320488
CA392822669
242 L>F No ClinGen
ExAC
gnomAD
rs867201745
CA272179400
243 E>G No ClinGen
Ensembl
CA392822704
rs761479506
246 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA7607822
rs761479506
246 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA7607824
rs750049013
247 Q>H No ClinGen
ExAC
gnomAD
CA7607823
rs764832367
247 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1419724753
CA392822725
249 I>T No ClinGen
gnomAD
rs755383058
CA7607825
250 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA392822738
rs1245670187
251 N>S No ClinGen
TOPMed
rs909296208
CA272179632
252 H>R No ClinGen
Ensembl
rs1319918419
CA392822961
255 M>V No ClinGen
gnomAD
rs368141275
CA7607826
259 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs567291724
CA7607828
260 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777728260
CA7607829
261 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7607831
rs757582732
263 E>D No ClinGen
ExAC
gnomAD
rs749331073
CA392823073
263 E>G No ClinGen
ExAC
gnomAD
TCGA novel 263 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7607830
rs749331073
263 E>V No ClinGen
ExAC
gnomAD
rs139810506
CA7607849
271 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1374020
rs111801077
CA7607850
272 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779132736
CA7607851
272 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs758590042
CA392823412
274 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7607853
rs758590042
274 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1469160972
CA392823458
278 T>A No ClinGen
gnomAD
rs376805248
CA7607855
278 T>I No ClinGen
ESP
ExAC
gnomAD
rs1412121843
CA392823503
281 G>A No ClinGen
TOPMed
rs748062141
CA392823521
283 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs748062141
CA7607858
283 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1276193567
CA392823537
284 L>P No ClinGen
Ensembl
rs368998210
CA7607859
285 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368998210
CA7607860
285 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1254948603
CA392823551
286 K>* No ClinGen
TOPMed
gnomAD
rs775748393
CA7607864
294 A>G No ClinGen
ExAC
gnomAD
CA7607866
rs764341196
295 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA272180161
rs1043746738
298 M>I No ClinGen
Ensembl
TCGA novel 299 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1388017759
CA392823748
301 K>R No ClinGen
TOPMed
CA392823770
rs1232882418
304 E>Q No ClinGen
gnomAD
CA7607869
rs765420997
305 S>L No ClinGen
ExAC
gnomAD
rs201402325
CA7607868
305 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7607870
rs750481322
307 I>F No ClinGen
ExAC
gnomAD
CA392823908
rs1318159029
310 E>G No ClinGen
gnomAD
CA7607896
rs201043143
313 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392823961
rs1301816547
314 Q>* No ClinGen
gnomAD
rs1232845300
CA392824020
318 C>R No ClinGen
gnomAD
CA392824027
rs1260962035
318 C>S No ClinGen
gnomAD
rs1435505027
CA392824059
320 E>G No ClinGen
gnomAD
CA7607900
COSM1227032
rs778221788
322 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA392824088
rs1364656212
322 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs771802227
CA7607902
324 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7607901
rs146206725
324 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777167206
CA392824146
326 L>V No ClinGen
ExAC
gnomAD
CA7607905
rs770264981
327 H>P No ClinGen
ExAC
gnomAD
CA272180238
rs372898013
329 V>L No ClinGen
ESP
TOPMed
gnomAD
CA392824219
rs1567330682
330 V>L No ClinGen
Ensembl
CA7607907
rs763368039
331 E>A No ClinGen
ExAC
gnomAD
CA7607908
rs766481861
332 T>A No ClinGen
ExAC
gnomAD
CA392824319
rs1285186868
335 N>S No ClinGen
TOPMed
CA392824359
rs1370836089
337 R>K No ClinGen
gnomAD
CA392824604
rs1355633113
341 A>V No ClinGen
TOPMed
gnomAD
rs775668590
CA7607927
342 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs771290090
CA7607928
344 T>I No ClinGen
ExAC
gnomAD
CA392824703
rs1252962466
349 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA392824702
rs1160811213
349 K>R No ClinGen
TOPMed
TCGA novel 353 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392824789
rs1596004505
356 S>T No ClinGen
Ensembl
CA392824807
rs1258301861
359 D>N No ClinGen
gnomAD
CA7607930
rs759652092
360 N>S No ClinGen
ExAC
gnomAD
rs767562073
CA7607931
361 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA272180595
rs767680862
362 A>T No ClinGen
Ensembl
rs377571348
CA7607932
365 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1417654266
CA392824846
365 R>W No ClinGen
gnomAD
rs1173198534
CA392824865
368 S>C No ClinGen
gnomAD
CA392824884
rs949502394
371 A>G No ClinGen
TOPMed
gnomAD
CA392824882
rs1261712905
371 A>T No ClinGen
TOPMed
gnomAD
CA272180599
rs949502394
371 A>V No ClinGen
TOPMed
gnomAD
CA7607935
rs145358886
372 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7607934
rs763965302
372 E>K No ClinGen
ExAC
gnomAD
rs145312138
CA392824920
376 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750366999
CA7607938
377 I>M No ClinGen
ExAC
gnomAD
rs1310645644
CA392824925
377 I>T No ClinGen
gnomAD
rs142457516
CA7607939
381 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779708500
CA7607940
382 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA7607941
rs746667073
384 Q>E No ClinGen
ExAC
gnomAD
rs778220146
CA7607943
385 A>V No ClinGen
ExAC
gnomAD
rs1275265731
CA392824983
386 N>D No ClinGen
TOPMed
rs749570361
CA7607944
386 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1209019485
CA392824992
387 N>H No ClinGen
gnomAD
CA7607945
rs771292620
387 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA392825001
rs1188593213
388 D>G No ClinGen
gnomAD
CA392825013
TCGA novel
rs1596004702
390 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs1428511888
CA392825023
391 L>F No ClinGen
gnomAD
rs1322131976
CA392825025
391 L>P No ClinGen
TOPMed
CA7607948
rs772205158
392 L>F No ClinGen
ExAC
gnomAD
rs775479947
CA7607949
392 L>P No ClinGen
ExAC
gnomAD
TCGA novel 395 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760911076
CA7607951
400 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs1404648659
CA392825299
400 I>V No ClinGen
TOPMed
rs768722767
CA7607952
401 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA392825308
rs1426456011
401 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1456278452
CA392825311
402 L>F No ClinGen
gnomAD
rs1456278452
CA392825310
402 L>I No ClinGen
gnomAD
rs1434351450
CA392825317
403 L>Q No ClinGen
gnomAD
CA7607953
rs776881596
406 V>L No ClinGen
ExAC
gnomAD
CA7607954
rs761562391
407 R>C No ClinGen
ExAC
gnomAD
rs370174132
CA7607955
407 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 407 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 407 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567332905
CA392807517
408 A>T No ClinGen
Ensembl
rs987793234
CA271396024
411 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA392807538
rs987793234
411 D>Y No ClinGen
gnomAD
CA392807548
rs1469342280
412 Q>R No ClinGen
gnomAD
CA392807554
rs1187830736
413 R>C No ClinGen
TOPMed
CA7607974
rs141526583
413 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs762863820
CA271396025
417 W>C No ClinGen
Ensembl
CA392807630
rs1472148389
417 W>G No ClinGen
gnomAD
rs1472148389
CA392807628
417 W>R No ClinGen
gnomAD
CA7607976
rs769483271
419 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs769483271
CA392807660
419 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs773086930
CA7607977
419 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1596007453
CA392807665
420 W>G No ClinGen
Ensembl
rs766376885
CA7607979
421 Q>H No ClinGen
ExAC
gnomAD
CA7607978
rs763003400
421 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA392807694
rs1596007481
422 D>G No ClinGen
Ensembl
CA7607980
rs751507693
422 D>Y No ClinGen
ExAC
rs759013539
CA7607981
426 T>I No ClinGen
ExAC
CA392807796
rs1271147187
429 K>R No ClinGen
TOPMed
rs1197690499
CA392807817
431 R>G No ClinGen
TOPMed
TCGA novel 431 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs561096025
CA7607982
431 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA392807818
rs1197690499
431 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA392807898
rs1350167240
434 E>D No ClinGen
gnomAD
rs754631936
CA7607984
434 E>K Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7607985
rs779262096
435 A>S No ClinGen
ExAC
gnomAD
CA7607986
rs750747617
436 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7607987
rs758734208
440 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7607989
rs200417063
441 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA7607988
rs540354481
441 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7607990
rs768688399
442 K>R No ClinGen
ExAC
gnomAD
CA392808003
rs1472097787
444 D>N No ClinGen
gnomAD
CA7607991
rs781270180
451 D>N No ClinGen
ExAC
gnomAD
rs781522804
CA7607993
452 E>G No ClinGen
ExAC
gnomAD
rs1017306411
CA271396028
452 E>K No ClinGen
TOPMed
gnomAD
rs781522804
CA271396029
452 E>V No ClinGen
ExAC
gnomAD
rs1411579502
CA392808125
453 I>L No ClinGen
TOPMed
gnomAD
CA7607995
rs749131116
454 L>F No ClinGen
ExAC
gnomAD
CA7607996
rs770823253
454 L>R No ClinGen
ExAC
gnomAD
rs199766690
CA7607997
455 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA7608023
rs549703675
457 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7608025
rs768105237
458 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1215454016
COSM1323894
CA392808633
459 R>Q ovary [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs367795170
CA7608026
459 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA392808656
rs1596009583
460 V>G No ClinGen
Ensembl
rs188673935
CA7608028
462 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7608027
rs371935810
462 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 463 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA271396204
rs1021340351
463 Y>H No ClinGen
gnomAD
CA392808759
rs1596009625
466 D>G No ClinGen
Ensembl
CA7608030
VAR_034507
rs1802376
466 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs76908230
CA392808781
467 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA392808786
rs960643308
468 E>K No ClinGen
TOPMed
gnomAD
rs960643308
CA271396205
468 E>Q No ClinGen
TOPMed
gnomAD
CA392808822
rs1418794109
469 R>T No ClinGen
gnomAD
CA7608034
rs780100137
COSM434136
475 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 477 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746946196
CA7608035
478 V>M No ClinGen
ExAC
gnomAD
rs776064437
CA7608037
480 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs150339032
CA7608036
480 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7608038
rs761479629
482 E>K No ClinGen
ExAC
gnomAD
rs865854439
CA271396247
486 S>F No ClinGen
Ensembl
rs772488105
CA7608060
488 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs762506335
CA7608059
488 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs552760571
CA7608062
CA7608061
491 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764654956
CA7608063
492 H>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 493 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1167577685
CA392809305
493 V>L No ClinGen
TOPMed
gnomAD
CA392809301
rs1167577685
493 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7608064
rs376050549
495 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769222827
CA7608065
496 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs750664045
CA7608067
499 T>I No ClinGen
ExAC
gnomAD
rs1001133436
CA271396249
499 T>S No ClinGen
Ensembl
CA392809412
rs1297583321
500 L>V No ClinGen
gnomAD
TCGA novel 501 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1596010338
CA392809507
505 Q>* No ClinGen
Ensembl
rs779923533
CA7608069
505 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA392809536
rs1191304658
506 Q>R No ClinGen
TOPMed
gnomAD
rs762163011
CA7608083
507 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs762163011
CA7608084
507 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7608085
rs773120118
508 A>S No ClinGen
ExAC
gnomAD
CA392809642
rs1419285805
509 K>* No ClinGen
gnomAD
CA392809648
rs1161183142
509 K>M No ClinGen
gnomAD
rs763270451
CA7608086
CA392809650
509 K>N No ClinGen
ExAC
gnomAD
rs766632076
CA7608087
512 E>D No ClinGen
ExAC
gnomAD
CA392809691
rs1567334745
513 A>S No ClinGen
Ensembl
CA7608089
rs754822161
520 A>T No ClinGen
ExAC
gnomAD
rs1293403254
CA392809771
521 I>T No ClinGen
TOPMed
CA7608090
rs764229911
522 S>F No ClinGen
ExAC
gnomAD

No associated diseases with Q13596

3 regional properties for Q13596

Type Name Position InterPro Accession
domain Manganese/iron superoxide dismutase, N-terminal 29 - 115 IPR019831
domain Manganese/iron superoxide dismutase, C-terminal 125 - 227 IPR019832
binding_site Manganese/iron superoxide dismutase, binding site 194 - 201 IPR019833

Functions

Description
EC Number
Subcellular Localization
  • Endosome membrane ; Peripheral membrane protein; Cytoplasmic side
  • Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein ; Cytoplasmic side
  • Early endosome membrane; Peripheral membrane protein; Cytoplasmic side
  • Cell projection, lamellipodium
  • Enriched on tubular elements of the early endosome membrane
  • Binds preferentially to highly curved membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:15498486)
  • Colocalized with SORT1 to tubular endosomal membrane structures called endosome-to-TGN transport carriers (ETCs) which are budding from early endosome vacuoles just before maturing into late endosome vacuoles (PubMed:18088323)
  • Colocalizes with DNAJC13 and Shiginella dysenteria toxin stxB on early endosomes (PubMed:19874558)
  • Colocalized with F-actin at the leading edge of lamellipodia in a KALRN-dependent manner (PubMed:20604901)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane The lipid bilayer surrounding an early endosome.
endosome A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane The lipid bilayer surrounding an endosome.
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.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
retromer complex A conserved hetero-pentameric membrane-associated complex involved in retrograde transport from endosomes to the Golgi apparatus. The budding yeast retromer comprises Vps35p, Vps29p, Vps26p, Vps5p, and Vps17p. The mammalian complex shows slight variation in composition compared to yeast, and comprises SNX1 or SNX2, SNX5 or SNX6, VPS26A or VPS26B, VPS29, and VPS35.
retromer, tubulation complex The dimeric subcomplex of the retromer, believed to be peripherally associated with the membrane. This dimeric complex is responsible for remodelling endosomal membranes to form a tube-structure to which cargo molecules are selected for recycling. The budding yeast complex comprises Vps5p and Vps17p, and may contain multiple copies of a Vps5p/Vps17p dimer. The mammalian complex contains SNX1 or SNX2 dimerized with SNX5 or SNX6.
vesicle Any small, fluid-filled, spherical organelle enclosed by membrane.

9 GO annotations of molecular function

Name Definition
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
epidermal growth factor receptor binding Binding to an epidermal growth factor receptor.
identical protein binding Binding to an identical protein or proteins.
insulin receptor binding Binding to an insulin receptor.
leptin receptor binding Binding to a leptin receptor.
phosphatidylinositol binding Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity Binding to an identical protein to form a homodimer.
transferrin receptor binding Binding to a transferrin receptor.

6 GO annotations of biological process

Name Definition
early endosome to Golgi transport The directed movement of substances from early endosomes to the Golgi.
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.
lamellipodium morphogenesis A process that is carried out at the cellular level and in which the structure of a lamellipodium is organized.
positive regulation of protein catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
receptor internalization A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane.
retrograde transport, endosome to Golgi The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q05B62 SNX1 Sorting nexin-1 Bos taurus (Bovine) PR
Q3ZBM5 SNX5 Sorting nexin-5 Bos taurus (Bovine) PR
O95219 SNX4 Sorting nexin-4 Homo sapiens (Human) PR
O60749 SNX2 Sorting nexin-2 Homo sapiens (Human) PR
Q9Y5X3 SNX5 Sorting nexin-5 Homo sapiens (Human) PR
Q9CWK8 Snx2 Sorting nexin-2 Mus musculus (Mouse) PR
Q9WV80 Snx1 Sorting nexin-1 Mus musculus (Mouse) PR
Q99N27 Snx1 Sorting nexin-1 Rattus norvegicus (Rat) PR
Q9FG38 SNX1 Sorting nexin 1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MASGGGGCSA SERLPPPFPG LEPESEGAAG GSEPEAGDSD TEGEDIFTGA AVVSKHQSPK
70 80 90 100 110 120
ITTSLLPINN GSKENGIHEE QDQEPQDLFA DATVELSLDS TQNNQKKVLA KTLISLPPQE
130 140 150 160 170 180
ATNSSKPQPT YEELEEEEQE DQFDLTVGIT DPEKIGDGMN AYVAYKVTTQ TSLPLFRSKQ
190 200 210 220 230 240
FAVKRRFSDF LGLYEKLSEK HSQNGFIVPP PPEKSLIGMT KVKVGKEDSS SAEFLEKRRA
250 260 270 280 290 300
ALERYLQRIV NHPTMLQDPD VREFLEKEEL PRAVGTQTLS GAGLLKMFNK ATDAVSKMTI
310 320 330 340 350 360
KMNESDIWFE EKLQEVECEE QRLRKLHAVV ETLVNHRKEL ALNTAQFAKS LAMLGSSEDN
370 380 390 400 410 420
TALSRALSQL AEVEEKIEQL HQEQANNDFF LLAELLSDYI RLLAIVRAAF DQRMKTWQRW
430 440 450 460 470 480
QDAQATLQKK REAEARLLWA NKPDKLQQAK DEILEWESRV TQYERDFERI STVVRKEVIR
490 500 510 520
FEKEKSKDFK NHVIKYLETL LYSQQQLAKY WEAFLPEAKA IS