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

37 structures for P30419

Entry ID Method Resolution Chain Position Source
1RXT X-ray 300 A A/B/C/D 1-496 PDB
3IU1 X-ray 142 A A/B 115-496 PDB
3IU2 X-ray 173 A A/B 115-496 PDB
3IWE X-ray 179 A A/B 115-496 PDB
3JTK X-ray 161 A A/B 115-496 PDB
4C2Y X-ray 164 A A/B 109-496 PDB
4C2Z X-ray 208 A A/B 109-496 PDB
5MU6 X-ray 188 A A/B 109-496 PDB
5NPQ X-ray 237 A A/B 109-496 PDB
5O6H X-ray 129 A A/B 109-496 PDB
5O6J X-ray 145 A A/B 109-496 PDB
5O9S X-ray 270 A A/B 99-496 PDB
5O9T X-ray 215 A A/B 99-496 PDB
5O9U X-ray 185 A A/B 99-496 PDB
5O9V X-ray 220 A A/B 99-496 PDB
5UUT X-ray 225 A A/B 109-496 PDB
6EHJ X-ray 210 A A/B 109-496 PDB
6F56 X-ray 194 A A/B/C/D 109-496 PDB
6FZ2 X-ray 205 A A/B 115-496 PDB
6FZ3 X-ray 200 A A/B 115-496 PDB
6FZ5 X-ray 189 A A/B 115-496 PDB
6PAV X-ray 252 A A/B 109-496 PDB
6QRM X-ray 230 A A/B 99-496 PDB
6SJZ X-ray 200 A A/B 99-496 PDB
6SK2 X-ray 190 A A/B 99-496 PDB
6SK3 X-ray 270 A A/B 99-493 PDB
6SK8 X-ray 187 A A/B 99-493 PDB
6SKJ X-ray 280 A A/B 99-494 PDB
7OWM X-ray 150 A A/B 99-496 PDB
7OWN X-ray 210 A A/B 99-496 PDB
7OWO X-ray 170 A A/B 99-496 PDB
7OWP X-ray 181 A A/B 99-496 PDB
7OWQ X-ray 300 A A/B 99-496 PDB
7OWR X-ray 239 A A/B 99-496 PDB
7OWU X-ray 208 A A/B 99-496 PDB
7RK3 X-ray 205 A A 109-496 PDB
AF-P30419-F1 Predicted AlphaFoldDB

286 variants for P30419

Variant ID(s) Position Change Description Diseaes Association Provenance
CA8610388
rs771527303
2 A>V No ClinGen
ExAC
gnomAD
rs1317068708
CA399828683
3 D>G No ClinGen
Ensembl
rs772761859
CA8610389
3 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs760309598
CA8610390
4 E>G No ClinGen
ExAC
gnomAD
rs983223652
CA291007103
4 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA399828712
rs1314954450
5 S>N No ClinGen
gnomAD
CA8610391
rs564172691
5 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA291007119
rs267604914
6 E>K No ClinGen
Ensembl
CA291007135
rs1022554088
7 T>I No ClinGen
TOPMed
rs1292079143
CA399828739
7 T>P No ClinGen
gnomAD
rs907713546
CA291007140
8 A>P No ClinGen
TOPMed
gnomAD
rs907713546
CA399828754
8 A>T No ClinGen
TOPMed
gnomAD
rs764406772
CA8610394
8 A>V No ClinGen
ExAC
gnomAD
TCGA novel 9 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752105945
CA8610395
9 V>L No ClinGen
ExAC
gnomAD
CA399828795
rs767553043
11 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs750513385
CA8610398
11 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA291007153
rs767553043
11 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8610397
rs767553043
11 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA8610399
rs756082410
12 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399828807
rs756082410
12 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs973343235
CA291007180
13 A>E No ClinGen
Ensembl
CA399828817
rs1424340537
13 A>P No ClinGen
gnomAD
CA399828833
rs1356403688
14 P>L No ClinGen
gnomAD
CA8610402
rs754859910
14 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8610403
rs202061902
15 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1597997056
CA399828836
15 P>S No ClinGen
Ensembl
rs772038652
CA8610405
16 L>R No ClinGen
ExAC
gnomAD
rs937347334
CA291007202
17 P>Q No ClinGen
Ensembl
CA399828853
rs1567858504
17 P>S No ClinGen
Ensembl
rs1597997099
CA399828874
18 Q>L No ClinGen
Ensembl
CA399828887
rs1315229471
19 M>R No ClinGen
gnomAD
CA399828886
rs1315229471
19 M>T No ClinGen
gnomAD
CA8610406
rs772952636
20 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs1437942507
CA399828977
24 G>A No ClinGen
gnomAD
CA8610407
rs746539074
24 G>R No ClinGen
ExAC
gnomAD
rs1451260585
CA399829001
26 G>D No ClinGen
TOPMed
rs770300796
CA8610409
26 G>S No ClinGen
ExAC
gnomAD
rs776300314
CA8610410
27 H>Q No ClinGen
ExAC
gnomAD
CA399829015
rs1362841019
27 H>R No ClinGen
TOPMed
CA399829020
rs1159616651
28 E>K No ClinGen
TOPMed
CA399829027
rs1185809906
COSM1128678
28 E>V prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
rs759161485
CA8610411
29 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs764495116
CA8610412
30 C>Y No ClinGen
ExAC
gnomAD
rs774684452
CA8610413
31 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1597997161
CA399829087
32 D>G No ClinGen
Ensembl
rs976121906
CA291007211
32 D>N No ClinGen
TOPMed
rs895881728
CA291007214
33 C>S No ClinGen
Ensembl
rs762294220
CA399829117
33 C>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 36 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 38 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597997181
CA399829213
38 D>Y No ClinGen
Ensembl
CA8610416
rs750844557
40 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs756247053
CA8610418
41 Y>C No ClinGen
ExAC
gnomAD
CA291007245
rs946116469
42 N>S No ClinGen
gnomAD
rs1271597368
CA399829325
43 R>P No ClinGen
gnomAD
CA399829319
rs1597997204
43 R>W No ClinGen
Ensembl
CA399834140
rs752810524
45 G>D No ClinGen
ExAC
TOPMed
rs752810524
CA8610443
45 G>V No ClinGen
ExAC
TOPMed
rs758247752
CA8610444
46 L>V No ClinGen
ExAC
gnomAD
rs1199096532
CA399834162
46 L>W No ClinGen
gnomAD
rs1286861992
CA399834190
47 S>N No ClinGen
gnomAD
CA399834218
rs1192808116
48 P>A No ClinGen
gnomAD
rs1212522731
CA399834232
48 P>L No ClinGen
TOPMed
CA8610446
rs140455291
50 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8610447
rs757177482
50 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs780748535
CA8610448
54 A>V No ClinGen
ExAC
gnomAD
CA8610449
rs774451911
55 K>I No ClinGen
ExAC
gnomAD
CA8610450
rs774451911
55 K>R No ClinGen
ExAC
gnomAD
TCGA novel 56 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 56 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468231466
CA399834484
59 K>R No ClinGen
gnomAD
rs3087878
CA291018100
VAR_050286
61 Q>K No ClinGen
UniProt
Ensembl
dbSNP
rs1567865446 63 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 64 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399834591
rs201559014
64 K>M No ClinGen
1000Genomes
TOPMed
CA291018109
rs201559014
64 K>R No ClinGen
1000Genomes
TOPMed
rs779784731
CA8610451
65 K>E No ClinGen
ExAC
gnomAD
TCGA novel 66 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 68 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399834663
rs1399730029
68 G>V No ClinGen
gnomAD
rs1405046109
CA399834752
74 A>S No ClinGen
gnomAD
rs1284414737
CA399834765
74 A>V No ClinGen
gnomAD
CA399834783
rs1231776580
75 Q>H No ClinGen
gnomAD
rs1281614790
CA399834807
77 Q>K No ClinGen
TOPMed
gnomAD
CA8610455
rs761306458
79 V>M No ClinGen
ExAC
gnomAD
rs767459577
CA8610467
81 M>V No ClinGen
ExAC
gnomAD
CA8610468
rs367954716
82 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399836488
rs367954716
82 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1018863986
TCGA novel
CA291020761
84 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
CA399836599
rs1567867068
86 A>T No ClinGen
Ensembl
rs1051019368
CA291020762
87 E>D No ClinGen
TOPMed
CA8610470
rs779405921
89 I>M No ClinGen
ExAC
gnomAD
TCGA novel 95 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399836796
rs1308984921
96 I>T No ClinGen
TOPMed
rs1463089836
CA399836784
96 I>V No ClinGen
TOPMed
gnomAD
rs778561485
CA8610473
101 V>E No ClinGen
ExAC
gnomAD
rs747390700
CA8610474
102 G>C No ClinGen
ExAC
gnomAD
rs771371139
CA8610475
103 Q>H No ClinGen
ExAC
gnomAD
CA399836952
rs1335366133
103 Q>R No ClinGen
TOPMed
rs563736659
CA8610476
COSM1493963
104 G>R kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA399837007
rs1416691571
105 P>L No ClinGen
TOPMed
rs1294041634
CA399837001
105 P>T No ClinGen
TOPMed
rs868718436
CA291020791
106 A>T No ClinGen
Ensembl
CA8610478
rs770043528
109 M>T No ClinGen
ExAC
gnomAD
rs1348860194
CA399837075
109 M>V No ClinGen
TOPMed
CA8610479
rs775419569
111 E>G No ClinGen
ExAC
rs1297768336
CA399837126
112 A>S No ClinGen
TOPMed
rs1443418786
CA399837133
112 A>V No ClinGen
TOPMed
rs1196722115
CA399837140
113 S>G No ClinGen
gnomAD
CA8610480
rs377156745
115 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399837179
COSM436718
rs377156745
115 R>Q Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1182546534
CA399837188
116 S>R No ClinGen
gnomAD
rs1391284036
CA399837251
118 Q>R No ClinGen
gnomAD
rs764230766
CA8610481
COSM1679873
122 T>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs764230766
CA399837345
122 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA8610483
rs761622308
125 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs144433221
CA8610485
127 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199678185 129 G>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1216003679
CA399839295
131 V>E No ClinGen
gnomAD
CA8610505
rs753759265
135 H>Y No ClinGen
ExAC
gnomAD
rs752448187
CA8610508
138 V>M No ClinGen
ExAC
gnomAD
CA399839468
rs1421268751
140 P>L No ClinGen
gnomAD
rs758111913
CA8610509
140 P>S No ClinGen
ExAC
gnomAD
rs201386803
CA8610510
141 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA291028604
rs986408291
142 K>E No ClinGen
Ensembl
CA399839519
rs1598015358
143 D>A No ClinGen
Ensembl
rs955288678
CA291028609
146 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1161073719
CA399839584
147 Q>K No ClinGen
TOPMed
rs1305018160
CA399839608
148 E>K No ClinGen
TOPMed
gnomAD
CA399839637
rs1366323829
149 P>A No ClinGen
gnomAD
TCGA novel 152 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399839697
rs1567869371
153 P>S No ClinGen
Ensembl
rs1435626124
CA399839706
154 Q>* No ClinGen
gnomAD
TCGA novel 155 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1291739811
CA399839734
155 G>S No ClinGen
gnomAD
CA291028642
rs1132898
163 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149737135
CA8610515
165 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8610516
rs778948844
166 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748432196
CA8610517
166 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA399840010
rs1269207571
167 G>S No ClinGen
TOPMed
rs773364852
CA8610519
168 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA399842249
rs1283407561
187 M>V No ClinGen
TOPMed
CA399842314
rs1567870315
COSM980091
189 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs775510228
CA8610542
194 P>L No ClinGen
ExAC
gnomAD
rs775510228
CA399842412
194 P>Q No ClinGen
ExAC
gnomAD
CA399842431
rs1445433341
195 E>A No ClinGen
gnomAD
CA291030060
rs866488889
195 E>D No ClinGen
Ensembl
CA399842425
rs1339503876
195 E>K No ClinGen
gnomAD
rs1311826897
CA399842447
196 F>L No ClinGen
TOPMed
TCGA novel 197 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150418753
CA8610573
202 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764148755
CA8610572
202 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8610575
rs781499966
205 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs746041079
CA8610576
206 W>C No ClinGen
ExAC
gnomAD
CA8610577
rs756018179
207 L>V No ClinGen
ExAC
gnomAD
CA8610578
rs779975972
208 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs779975972
CA8610579
208 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399842778
rs1598017200
209 Q>P No ClinGen
Ensembl
TCGA novel 209 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399842819
rs1598017204
211 H>Q No ClinGen
Ensembl
CA8610581
rs774095582
217 V>L No ClinGen
ExAC
gnomAD
rs771441667
CA8610583
220 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA399842941
rs1407256029
220 R>W No ClinGen
gnomAD
rs1303544092
CA399843056
226 I>M No ClinGen
gnomAD
CA291030756
rs919282095
227 S>G No ClinGen
TOPMed
TCGA novel 228 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8610585
rs375089291
229 I>M No ClinGen
ESP
ExAC
gnomAD
rs775829411
CA8610587
234 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA8610588
rs763238851
236 Y>C No ClinGen
ExAC
gnomAD
CA399843264
rs1342497115
238 T>A No ClinGen
TOPMed
CA291030787
rs764674925
238 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs764674925
CA8610589
238 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs758261924
CA8610620
241 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA8610621
rs777621617
242 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1331451303
CA399843798
249 C>G No ClinGen
TOPMed
rs746537411
CA8610622
255 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1429798567
CA399844044
261 P>A No ClinGen
gnomAD
rs1567871129
CA399844111
265 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA399844207
rs1422769066
274 E>Q No ClinGen
gnomAD
rs367724198
CA291031377
275 G>S No ClinGen
ESP
TOPMed
rs371122860
CA8610627
276 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399844295
rs1196654054
279 A>G No ClinGen
TOPMed
rs772467109
CA8610629
280 V>F No ClinGen
ExAC
gnomAD
TCGA novel 281 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1302511754
CA399844338
283 A>T No ClinGen
gnomAD
rs766531390
CA8610632
284 G>E No ClinGen
ExAC
gnomAD
CA399844385
rs759663986
287 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs759663986
CA8610634
287 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA8610637
rs376218058
291 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8610638
rs764042790
292 G>V No ClinGen
ExAC
gnomAD
rs1204184516
CA399845166
299 R>Q No ClinGen
TOPMed
CA399845226
rs1441741328
304 R>W No ClinGen
gnomAD
CA399845242
rs2239923
306 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399845334
rs1326078809
317 N>H No ClinGen
TOPMed
rs1435733070
CA399845350
318 M>R No ClinGen
gnomAD
rs1244829195
CA399845383
320 M>I No ClinGen
gnomAD
rs760110087
CA291031835
323 T>S No ClinGen
Ensembl
rs1291541781
CA399845448
324 M>R No ClinGen
gnomAD
CA399845530
rs1447003290
328 R>G No ClinGen
gnomAD
rs1384334634
CA399845536
328 R>Q No ClinGen
TOPMed
rs1193969791
CA399845557
329 L>P No ClinGen
gnomAD
rs1373930583
CA399845562
330 P>T No ClinGen
gnomAD
rs767459640
CA8610678
332 T>A No ClinGen
ExAC
gnomAD
CA399845925
rs750330678
332 T>N No ClinGen
ExAC
gnomAD
CA8610679
rs750330678
332 T>S No ClinGen
ExAC
gnomAD
rs1271946369
CA399845929
333 P>S No ClinGen
TOPMed
rs375623297
CA291033650
335 T>I No ClinGen
ESP
TOPMed
gnomAD
rs1213935690
CA399845979
335 T>S No ClinGen
TOPMed
rs760138330
CA8610680
336 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA399846007
rs1336327252
336 A>V No ClinGen
TOPMed
COSM187889
rs1415777939
CA399846042
339 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA8610681
rs554809034
341 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA399846119
rs1567872686
343 T>A No ClinGen
Ensembl
CA399846172
rs1358012081
347 P>A No ClinGen
gnomAD
rs1358012081
CA399846173
347 P>S No ClinGen
gnomAD
rs753488937
CA8610682
348 V>L No ClinGen
ExAC
gnomAD
rs754671896
CA8610683
350 H>Y No ClinGen
ExAC
gnomAD
rs778639871
CA8610684
352 L>F No ClinGen
ExAC
gnomAD
rs1567872701
CA399846228
353 L>V No ClinGen
Ensembl
rs757647993
CA291033677
355 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs757647993
CA8610686
355 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA399846279
rs1442131409
357 L>F No ClinGen
gnomAD
TCGA novel 360 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399846351
rs1396950068
361 H>Y No ClinGen
TOPMed
rs1208099201
CA399846404
363 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA399846410
rs1352058986
364 P>T No ClinGen
gnomAD
rs1192890144
CA399846434
365 V>D No ClinGen
gnomAD
CA8610690
rs148483868
365 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs943116623
CA291033706
372 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 374 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399846636
rs1567872739
376 Y>C No ClinGen
Ensembl
CA399846653
rs1478893273
377 P>S No ClinGen
gnomAD
CA399846722
rs1412459058
381 I>V No ClinGen
gnomAD
rs1360643122
CA399846756
383 D>N No ClinGen
gnomAD
rs1401094663
CA399846793
385 F>I No ClinGen
gnomAD
CA399846796
rs1401094663
385 F>L No ClinGen
gnomAD
rs1324984572
CA399846842
387 V>L No ClinGen
gnomAD
rs1275875591
CA399846878
388 E>D No ClinGen
gnomAD
CA399847526
rs1259100523
389 N>S No ClinGen
gnomAD
rs749387380
CA8610708
390 A>S No ClinGen
ExAC
gnomAD
CA399847534
rs749387380
390 A>T No ClinGen
ExAC
gnomAD
CA399847542
rs1288820933
390 A>V No ClinGen
gnomAD
COSM1217528
CA8610710
rs779143534
392 G>R large_intestine prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs983756350
CA291035623
393 E>G No ClinGen
TOPMed
CA8610711
rs748344051
393 E>K No ClinGen
ExAC
gnomAD
rs773052955
COSM1679874
CA8610713
402 T>M Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs770912575
CA8610715
407 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8610716
rs776660504
412 T>N No ClinGen
ExAC
gnomAD
rs1333869222
CA399847836
415 S>N No ClinGen
gnomAD
rs1186266047
CA399847842
415 S>R No ClinGen
Ensembl
rs775334053
CA8610719
424 N>S No ClinGen
ExAC
gnomAD
CA8610721
rs767839828
425 V>I No ClinGen
ExAC
gnomAD
CA399847999
rs1462397852
428 Q>H No ClinGen
TOPMed
gnomAD
rs750807200
CA8610722
435 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs766935430
CA8610724
437 D>N No ClinGen
ExAC
gnomAD
rs755095071
CA8610726
438 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA399848129
rs1241960333
439 L>F No ClinGen
TOPMed
CA291035727
rs867687573
442 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 447 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291036701
rs1802201
448 D>N No ClinGen
Ensembl
rs908761902
CA291036707
450 F>L No ClinGen
Ensembl
rs1350193710
CA399848421
451 N>S No ClinGen
gnomAD
CA399848429
rs1460724762
452 A>T No ClinGen
TOPMed
gnomAD
rs1279886973
CA399848435
452 A>V No ClinGen
gnomAD
rs1276441766
CA399848478
456 M>L No ClinGen
TOPMed
rs1401993695
CA399848531
459 K>E No ClinGen
gnomAD
CA8610781
rs772801108
460 T>N No ClinGen
ExAC
gnomAD
CA399848574
rs141629884
462 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 465 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8610787
rs774301899
469 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA399848706
rs1232327561
472 G>S No ClinGen
gnomAD
rs1426104773
CA399848804
479 Y>C No ClinGen
TOPMed
TCGA novel 481 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867051835
CA291036741
481 W>C No ClinGen
Ensembl
rs898816298
CA291036745
482 K>I No ClinGen
Ensembl
CA399848908
rs1474867123
486 M>L No ClinGen
TOPMed
gnomAD
CA399848906
rs1474867123
486 M>V No ClinGen
TOPMed
gnomAD
rs1162489791
CA399848933
487 G>A No ClinGen
gnomAD
rs1425544391
CA399848946
488 A>V No ClinGen
gnomAD
rs578117787
CA8610791
489 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA8610792
rs766069961
490 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1449583852
CA399848972
490 K>R No ClinGen
gnomAD
TCGA novel 491 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8610814
rs765115917
493 L>V No ClinGen
ExAC
gnomAD
rs1421300928
CA399849430
497 Q>L No ClinGen
TOPMed

No associated diseases with P30419

4 regional properties for P30419

Type Name Position InterPro Accession
domain Glycylpeptide N-tetradecanoyltransferase, N-terminal 141 - 294 IPR022676
domain Glycylpeptide N-tetradecanoyltransferase, C-terminal 308 - 486 IPR022677
conserved_site Glycylpeptide N-tetradecanoyltransferase, conserved site 244 - 252 IPR022678-1
conserved_site Glycylpeptide N-tetradecanoyltransferase, conserved site 466 - 472 IPR022678-2

Functions

Description
EC Number 2.3.1.97 Transferring groups other than amino-acyl groups
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, cytosol
  • Membrane ; Peripheral membrane protein
  • Copurifies with ribosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 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.
extrinsic component of membrane The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
glycylpeptide N-tetradecanoyltransferase activity Catalysis of the reaction: tetradecanoyl-CoA + glycyl-peptide = CoA + N-tetradecanoylglycyl-peptide.
myristoyltransferase activity Catalysis of the transfer of a myristoyl (CH3-12-CO-) group to an acceptor molecule.
peptidyl-lysine N6-myristoyltransferase activity Catalysis of the transfer of a myristoyl group to the N6 nitrogen atom on a lysine residue of a peptide or protein molecule.

6 GO annotations of biological process

Name Definition
cellular ketone metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
N-terminal peptidyl-glycine N-myristoylation The myristoylation of the N-terminal glycine of proteins to form the derivative N-myristoyl-glycine.
N-terminal protein myristoylation The covalent attachment of a myristoyl group to the N-terminal amino acid residue of a protein.
positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway.
regulation of rhodopsin mediated signaling pathway Any process that modulates the frequency, rate or extent of rhodopsin-mediated signaling.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O70310 Nmt1 Glycylpeptide N-tetradecanoyltransferase 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MADESETAVK PPAPPLPQMM EGNGNGHEHC SDCENEEDNS YNRGGLSPAN DTGAKKKKKK
70 80 90 100 110 120
QKKKKEKGSE TDSAQDQPVK MNSLPAERIQ EIQKAIELFS VGQGPAKTME EASKRSYQFW
130 140 150 160 170 180
DTQPVPKLGE VVNTHGPVEP DKDNIRQEPY TLPQGFTWDA LDLGDRGVLK ELYTLLNENY
190 200 210 220 230 240
VEDDDNMFRF DYSPEFLLWA LRPPGWLPQW HCGVRVVSSR KLVGFISAIP ANIHIYDTEK
250 260 270 280 290 300
KMVEINFLCV HKKLRSKRVA PVLIREITRR VHLEGIFQAV YTAGVVLPKP VGTCRYWHRS
310 320 330 340 350 360
LNPRKLIEVK FSHLSRNMTM QRTMKLYRLP ETPKTAGLRP METKDIPVVH QLLTRYLKQF
370 380 390 400 410 420
HLTPVMSQEE VEHWFYPQEN IIDTFVVENA NGEVTDFLSF YTLPSTIMNH PTHKSLKAAY
430 440 450 460 470 480
SFYNVHTQTP LLDLMSDALV LAKMKGFDVF NALDLMENKT FLEKLKFGIG DGNLQYYLYN
490
WKCPSMGAEK VGLVLQ