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

18 structures for P54274

Entry ID Method Resolution Chain Position Source
1BA5 NMR - A 378-430 PDB
1H6O X-ray 290 A A 62-265 PDB
1ITY NMR - A 371-439 PDB
1IV6 NMR - A 371-439 PDB
1W0T X-ray 200 A A/B 379-431 PDB
3BQO X-ray 200 A A 58-268 PDB
3L82 X-ray 240 A A 58-268 PDB
5HKP X-ray 220 A C/D 1-55 PDB
5WIR X-ray 210 A A/B 62-265 PDB
5XUP X-ray 210 A A/B 65-266 PDB
8F0A EM 260 A a/b/c 404-430 PDB
8F0U EM 310 A a 404-430 PDB
8F1T EM 1210 A a/b/c 404-430 PDB
8F1U EM 1380 A a/b/c 404-430 PDB
8F21 EM 1410 A a/b/c 404-430 PDB
8F26 EM 970 A a 404-430 PDB
8OX1 EM 270 A L/M 1-439 PDB
AF-P54274-F1 Predicted AlphaFoldDB

324 variants for P54274

Variant ID(s) Position Change Description Diseaes Association Provenance
rs756003740
CA4781847
2 A>S No ClinGen
ExAC
gnomAD
rs201810500
CA4781848
2 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1008256583
CA371473940
3 E>K No ClinGen
TOPMed
gnomAD
rs1008256583
COSM4006966
COSM4006967
CA179278163
3 E>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs772459332
CA4781850
5 V>A No ClinGen
ExAC
gnomAD
rs374577619
CA4781849
5 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775882193
CA4781851
6 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs747176197
CA4781852
6 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA371473992
rs1460074735
7 S>L No ClinGen
TOPMed
gnomAD
rs560420585
CA4781854
8 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA371473996
rs1276232415
8 A>T No ClinGen
gnomAD
rs560420585
CA4781855
8 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA371474010
rs1275326897
9 A>T No ClinGen
gnomAD
CA4781857
rs773615990
9 A>V No ClinGen
ExAC
gnomAD
CA371474017
rs751228112
10 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1486699545
CA371474025
10 P>L No ClinGen
TOPMed
gnomAD
rs751228112
CA4781860
10 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA179278197
rs974794290
11 S>N No ClinGen
gnomAD
rs767125396
CA4781862
12 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA179278230
rs767125396
12 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA371474051
rs754522241
12 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs754522241
CA4781861
12 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs201438704
CA4781863
13 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1375446621
CA371474085
15 C>R No ClinGen
gnomAD
CA371474089
rs1436053225
15 C>Y No ClinGen
gnomAD
CA4781865
rs777817409
16 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4781868
rs377699337
17 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4781871
rs781389776
CA371474119
17 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA4781869
rs377699337
17 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA371474113
rs571219353
17 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4781867
rs571219353
17 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377699337
CA4781870
17 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA179278303
rs571219353
17 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748154619
CA371474122
18 G>C No ClinGen
ExAC
gnomAD
rs748154619
CA4781872
18 G>S No ClinGen
ExAC
gnomAD
CA4781873
rs769878289
19 R>G Variant assessed as Somatic; 4.654e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1285455128
CA371474144
19 R>S No ClinGen
TOPMed
gnomAD
rs941755806
CA179278343
19 R>T No ClinGen
TOPMed
gnomAD
rs1164249959
CA371474162
20 D>E No ClinGen
TOPMed
rs1448063146
CA371474158
20 D>G No ClinGen
gnomAD
rs912506446
CA179278351
20 D>N No ClinGen
Ensembl
rs370999354
CA4781877
21 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4781874
rs773732535
21 A>S No ClinGen
ExAC
gnomAD
rs773732535
CA4781875
21 A>T No ClinGen
ExAC
gnomAD
rs370999354
CA4781876
21 A>V Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1192550531
CA371474191
23 P>T No ClinGen
gnomAD
rs1455164054
CA371474204
24 T>P No ClinGen
gnomAD
CA4781881
rs760130068
25 E>A No ClinGen
ExAC
gnomAD
CA371474211
rs1156271324
25 E>K No ClinGen
gnomAD
CA371474233
rs1320213216
26 E>G No ClinGen
gnomAD
rs763644823
CA4781882
26 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA371474258
rs919572139
27 Q>P No ClinGen
TOPMed
gnomAD
CA179278408
rs919572139
27 Q>R No ClinGen
TOPMed
gnomAD
CA4781884
rs757192129
30 E>K No ClinGen
ExAC
gnomAD
rs1212424094
CA371474353
33 R>G No ClinGen
TOPMed
TCGA novel 33 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750169709
CA4781886
33 R>T No ClinGen
ExAC
gnomAD
CA4781887
rs755276399
36 E>G No ClinGen
ExAC
gnomAD
CA371474436
rs1288500571
37 E>K No ClinGen
TOPMed
rs777764676
CA4781891
41 C>R No ClinGen
ExAC
gnomAD
CA4781892
rs749862674
44 L>P No ClinGen
ExAC
gnomAD
rs1276344054
CA371474590
45 L>F No ClinGen
TOPMed
rs894879967
CA179278488
45 L>P No ClinGen
Ensembl
CA4781894
rs373985315
46 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759792293
CA4781895
51 V>M No ClinGen
ExAC
gnomAD
rs554864170
CA4781896
53 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA4781898
rs760314774
54 P>L No ClinGen
ExAC
gnomAD
rs775024422
CA4781897
54 P>S No ClinGen
ExAC
gnomAD
rs1444837457
CA371474737
55 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1444484041
CA371474783
56 E>D No ClinGen
gnomAD
CA371474776
rs1336363030
56 E>G No ClinGen
gnomAD
rs753391990
CA4781906
59 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs761898094
CA4781907
61 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA4781908
rs765243417
62 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA371474904
rs750271429
63 D>N No ClinGen
ExAC
gnomAD
CA4781909
rs750271429
63 D>Y No ClinGen
ExAC
gnomAD
rs201464789
CA371474936
64 A>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA4781910
rs758151093
64 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA179278556
rs201464789
64 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA179278581
rs775756503
65 G>V No ClinGen
Ensembl
CA371475009
rs1165654140
69 E>Q No ClinGen
gnomAD
CA4781916
rs777889745
70 A>D No ClinGen
ExAC
gnomAD
CA4781915
rs756327332
70 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4781917
rs749350509
71 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 71 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332247257
CA371475081
72 A>V No ClinGen
gnomAD
TCGA novel 74 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757804917
CA4781918
76 G>S No ClinGen
ExAC
gnomAD
CA371475167
rs1227194945
78 M>V No ClinGen
gnomAD
rs746332601
CA4781920
79 L>R No ClinGen
ExAC
TCGA novel 80 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs891407231
CA179278634
80 D>N No ClinGen
TOPMed
CA371475243
rs772332822
81 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA371475255
rs1197247179
82 L>H No ClinGen
gnomAD
CA4781923
rs746722487
84 L>F No ClinGen
ExAC
gnomAD
CA371475377
rs1192159098
89 A>T No ClinGen
gnomAD
CA179278667
rs999758009
91 R>P No ClinGen
Ensembl
rs1171106607
CA371475427
91 R>S No ClinGen
gnomAD
rs761374911
CA4781927
94 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1374854675
CA371475461
94 R>S No ClinGen
gnomAD
rs1359154641
CA371475478
95 S>C No ClinGen
gnomAD
rs762882340
CA4781930
96 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs893839558
CA179278686
101 T>I No ClinGen
TOPMed
gnomAD
CA371475562
rs1346453097
102 R>G No ClinGen
gnomAD
rs1346453097
CA371475561
102 R>S No ClinGen
gnomAD
rs756380562
CA4781933
103 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs374169616
CA179278707
103 N>S No ClinGen
TOPMed
rs200166029
CA4781935
104 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1430087208
CA371475636
106 E>A No ClinGen
gnomAD
rs1191932524
CA371475641
107 A>T No ClinGen
gnomAD
COSM751831
CA371476568
rs1312159913
COSM751830
108 I>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs747874839
CA4781967
110 H>R No ClinGen
ExAC
gnomAD
TCGA novel 114 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4781968
rs769472643
118 C>G No ClinGen
ExAC
gnomAD
CA179281582
rs1030362778
119 Q>R No ClinGen
TOPMed
gnomAD
CA4781972
rs770304702
121 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs774290316
CA4781973
122 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375680818
CA4781975
124 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375680818
CA4781976
124 Y>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1486407144
CA371476792
125 I>T No ClinGen
gnomAD
rs762001700
CA4781977
125 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1259659354
CA371476804
126 C>Y No ClinGen
TOPMed
CA4781978
rs765477917
127 Q>L No ClinGen
ExAC
gnomAD
rs908519269
CA179281610
128 F>L No ClinGen
Ensembl
rs750510415
CA4781979
130 T>A No ClinGen
ExAC
gnomAD
CA4781980
rs763125104
130 T>I No ClinGen
ExAC
gnomAD
CA179281623
rs962670320
134 A>E No ClinGen
Ensembl
CA4781982
rs371936856
134 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4781981
rs371936856
134 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755536594
CA4781983
137 T>A No ClinGen
ExAC
gnomAD
CA371478148
rs1563459421
140 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA371478164
rs1440363020
141 Q>H No ClinGen
TOPMed
gnomAD
CA4781999
rs763028309
144 N>S No ClinGen
ExAC
gnomAD
rs1332859982
CA371478227
145 D>E No ClinGen
gnomAD
CA4782000
rs766633252
147 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs1356242448
CA371478253
147 R>Q No ClinGen
TOPMed
CA4782003
rs768104625
150 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4782004
rs372325146
152 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371478338
rs1436620878
153 S>* No ClinGen
TOPMed
rs1276094252
CA371478332
153 S>T No ClinGen
TOPMed
CA4782006
rs764304266
154 A>G No ClinGen
ExAC
gnomAD
CA371478345
rs1452794461
154 A>P No ClinGen
gnomAD
CA371478350
rs764304266
154 A>V No ClinGen
ExAC
gnomAD
rs753528562
CA4782008
159 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA4782007
rs753528562
159 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs745362910
CA4782010
161 I>T No ClinGen
ExAC
gnomAD
CA4782009
rs778456254
161 I>V No ClinGen
ExAC
gnomAD
CA4782011
rs199678997
162 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA371478489
rs1360851634
164 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs779999988
CA4782012
167 K>R No ClinGen
ExAC
gnomAD
CA4782013
rs746873007
168 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA179286902
rs910994146
168 L>H No ClinGen
TOPMed
gnomAD
CA371478550
rs746873007
168 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs776284866
CA4782015
169 H>L No ClinGen
ExAC
rs1408484278
CA371478603
174 N>S No ClinGen
TOPMed
gnomAD
CA371478625
rs1328249589
177 K>R No ClinGen
gnomAD
TCGA novel 180 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371478659
rs1408274753
180 A>S No ClinGen
TOPMed
rs1400554263
CA371478673
182 A>V No ClinGen
gnomAD
rs1431725842
CA371478683
184 C>G No ClinGen
gnomAD
COSM1700263
rs1311550307
COSM1700264
CA371478692
185 M>L skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1375338189
CA371478718
188 G>D No ClinGen
gnomAD
rs1224720375
CA371478772
195 E>D No ClinGen
gnomAD
CA179287712
rs776820604
195 E>V No ClinGen
TOPMed
gnomAD
rs1405470587
CA371478787
197 F>L No ClinGen
TOPMed
CA4782035
rs754857546
201 F>Y No ClinGen
ExAC
gnomAD
rs1342205308
CA371478817
202 G>S No ClinGen
gnomAD
rs781089542
CA4782036
203 D>N No ClinGen
ExAC
gnomAD
CA371478830
rs1174154345
204 P>T No ClinGen
TOPMed
rs147608592
CA4782037
205 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147608592
CA4782038
205 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1196782
rs201882345
COSM1196783
CA4782039
206 S>Y lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA371479441
rs1252390809
209 P>A No ClinGen
gnomAD
rs752629975
CA371479473
210 F>L No ClinGen
ExAC
gnomAD
CA4782063
rs140473975
212 S>N No ClinGen
ESP
ExAC
gnomAD
CA4782064
rs549966818
215 L>R No ClinGen
1000Genomes
ExAC
gnomAD
rs199642410
CA179289601
216 M>V No ClinGen
TOPMed
CA4782065
rs746155678
217 I>V No ClinGen
ExAC
gnomAD
CA179289607
rs373344515
218 I>V No ClinGen
ESP
CA4782066
rs772414283
220 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA371479651
rs1458423889
220 Q>R No ClinGen
gnomAD
CA4782068
rs747030641
222 D>G No ClinGen
ExAC
gnomAD
rs777027729
CA4782070
223 T>K No ClinGen
ExAC
gnomAD
rs370183602
CA4782071
225 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs547949193
CA4782072
226 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1268522469
CA371479787
227 F>L No ClinGen
gnomAD
TCGA novel 230 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371479859
rs1257022048
232 S>C No ClinGen
TOPMed
rs1044876803
CA179289639
235 H>Q No ClinGen
Ensembl
CA4782076
rs765915995
236 M>I No ClinGen
ExAC
gnomAD
rs1320180267
CA371479980
239 K>E No ClinGen
gnomAD
CA4782077
rs751181912
COSM360448
241 K>N lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA371480171
rs1324658452
247 V>L No ClinGen
gnomAD
rs1346401838
CA371480194
248 L>P No ClinGen
TOPMed
TCGA novel 248 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373606068
CA4782081
251 K>R No ClinGen
ESP
CA371480304
rs1348904763
253 S>L No ClinGen
gnomAD
rs752683283
CA4782083
254 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs752683283
CA4782084
254 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs55834252
CA4782085
257 M>K No ClinGen
ExAC
gnomAD
rs55834252
CA179289723
257 M>T No ClinGen
ExAC
gnomAD
CA371480805
rs1393775494
258 K>T No ClinGen
TOPMed
gnomAD
rs1345928090
CA371480969
260 A>S No ClinGen
TOPMed
rs748194937
COSM1228924
CA4782113
COSM1228925
260 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1210877299
CA371480983
261 A>V No ClinGen
gnomAD
CA371480995
rs1238342462
262 K>N No ClinGen
gnomAD
rs778272685
CA4782115
265 E>D No ClinGen
ExAC
gnomAD
CA371481031
rs1434748306
265 E>G No ClinGen
TOPMed
rs1183199204
CA371481073
268 R>T No ClinGen
gnomAD
CA4782117
rs528829977
272 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1168661038
CA371481142
274 S>F No ClinGen
gnomAD
CA4782118
rs771202033
275 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1432715768
CA371481222
280 G>S No ClinGen
gnomAD
CA179291748
rs546968261
282 D>G No ClinGen
1000Genomes
rs774770648
CA4782120
283 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA371481789
rs1423963835
285 M>T No ClinGen
TOPMed
rs558956901
CA4782121
286 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771730126
CA4782122
288 E>K No ClinGen
ExAC
gnomAD
CA4782124
rs760297109
289 A>G No ClinGen
ExAC
gnomAD
rs1476266060
CA371481853
289 A>T No ClinGen
TOPMed
CA4782125
rs763650903
293 T>A No ClinGen
ExAC
gnomAD
CA371481940
rs1192823465
294 R>K No ClinGen
TOPMed
rs959071714
CA179291795
295 K>R No ClinGen
TOPMed
gnomAD
rs1175417685
CA371482827
298 S>R No ClinGen
gnomAD
rs1282237366
CA371482834
298 S>R No ClinGen
TOPMed
rs768286752
CA4782147
299 D>E No ClinGen
ExAC
gnomAD
rs1554555497
CA4782145
299 D>Y No ClinGen
Ensembl
CA371482868
rs1472809349
301 Q>* No ClinGen
gnomAD
rs1161150953
CA371482889
302 S>F No ClinGen
gnomAD
CA4782149
rs533827129
303 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM354897
CA4782148
rs533827129
303 A>V lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371482902
rs772982906
304 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4782151
rs772982906
304 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA371482913
rs1201535999
305 T>A No ClinGen
TOPMed
gnomAD
rs1351688478
CA371482920
305 T>I No ClinGen
gnomAD
rs766103414
CA4782153
309 E>Q No ClinGen
ExAC
gnomAD
CA371482971
rs1445490316
310 G>S No ClinGen
TOPMed
CA4782154
rs752919794
311 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1053376388
CA179294737
312 V>I No ClinGen
TOPMed
gnomAD
CA179294738
rs891688589
313 S>Y No ClinGen
TOPMed
gnomAD
CA179296215
rs1034294837
317 S>F No ClinGen
TOPMed
gnomAD
CA4782182
rs761976906
319 K>R No ClinGen
ExAC
gnomAD
rs536690082
CA179296227
322 F>L No ClinGen
TOPMed
gnomAD
rs1014284097
CA179296229
324 S>P No ClinGen
gnomAD
CA371483818
rs1432534131
325 K>N No ClinGen
gnomAD
CA371483842
rs1296142489
327 Q>P No ClinGen
TOPMed
gnomAD
CA371483843
rs1296142489
327 Q>R No ClinGen
TOPMed
gnomAD
rs200201517
CA4782185
328 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1230452387
CA371483874
329 G>V No ClinGen
gnomAD
rs780622748
CA4782186
330 T>I No ClinGen
ExAC
gnomAD
rs961910449
CA179296245
332 Q>R No ClinGen
TOPMed
CA4782187
rs147786410
334 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 334 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1280545423
CA371483945
335 L>F No ClinGen
gnomAD
rs1188174304
CA371483955
336 N>H No ClinGen
TOPMed
gnomAD
CA4782189
rs754719025
336 N>S No ClinGen
ExAC
gnomAD
rs1451436045
CA371484016
340 R>G No ClinGen
TOPMed
gnomAD
rs1197323769
CA371484017
340 R>K No ClinGen
gnomAD
CA371484027
rs1377530139
341 R>G No ClinGen
gnomAD
CA4782191
rs780918070
342 V>I No ClinGen
ExAC
gnomAD
CA4782190
rs780918070
342 V>L No ClinGen
ExAC
gnomAD
rs777142237
CA371484050
343 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs777142237
CA179296297
343 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs777142237
CA4782193
343 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA179296307
rs1030219843
344 T>S No ClinGen
TOPMed
CA371484060
rs1322116521
345 P>L No ClinGen
TOPMed
gnomAD
rs770829605
CA4782195
345 P>S No ClinGen
ExAC
gnomAD
rs954623608
CA179296346
346 Q>L No ClinGen
TOPMed
gnomAD
rs767706750
CA4782209
347 S>N No ClinGen
ExAC
gnomAD
TCGA novel 352 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371484465
rs1037530113
353 E>G No ClinGen
TOPMed
gnomAD
CA179302465
rs1037530113
353 E>V No ClinGen
TOPMed
gnomAD
TCGA novel 356 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371484505
rs1214658044
359 E>A No ClinGen
TOPMed
CA4782212
rs777387846
362 I>V No ClinGen
ExAC
gnomAD
CA371484531
rs1241522879
363 P>T No ClinGen
Ensembl
CA371484541
rs1264881321
364 V>A No ClinGen
gnomAD
CA371484537
rs1242887685
364 V>I No ClinGen
TOPMed
gnomAD
rs200940062
CA4782214
366 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199829012
CA179302536
366 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148824563
CA4782216
369 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148824563
CA371484574
369 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767107444
CA179302545
369 P>S No ClinGen
gnomAD
rs771909875
CA4782218
370 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748462018
CA4782220
375 H>L No ClinGen
ExAC
gnomAD
rs748462018
CA371484612
375 H>R No ClinGen
ExAC
gnomAD
rs576511615
CA371484615
376 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4782221
rs576511615
376 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4782222
rs182826937
376 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs143443923
CA4782223
377 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1387703967
CA371484626
378 R>T No ClinGen
gnomAD
CA4782225
rs775002331
381 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1305398987
CA371484648
381 Q>R No ClinGen
gnomAD
rs367591734
CA4782242
385 W>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774558906
CA4782243
389 K>Q No ClinGen
ExAC
gnomAD
CA371538999
rs1310999294
392 R>I No ClinGen
TOPMed
gnomAD
rs1257013963
CA371539006
393 S>C No ClinGen
gnomAD
CA4782245
rs772422280
395 V>M No ClinGen
ExAC
gnomAD
CA371539029
rs1448380465
397 K>T No ClinGen
gnomAD
CA4782247
rs760966818
398 Y>C No ClinGen
ExAC
gnomAD
CA4782248
rs371272884
400 E>Q No ClinGen
ESP
ExAC
gnomAD
CA371539057
rs1343560036
401 G>E No ClinGen
TOPMed
TCGA novel 401 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145124356
CA179632414
403 W>* No ClinGen
ESP
TOPMed
CA4782249
rs768819687
406 I>H No ClinGen
ExAC
rs138974817
CA179632415
406 I>M No ClinGen
ESP
gnomAD
CA371539111
rs964367595
409 H>P No ClinGen
TOPMed
gnomAD
rs964367595
CA179632416
409 H>R No ClinGen
TOPMed
gnomAD
rs1586075915
CA371539119
410 Y>C No ClinGen
Ensembl
CA371539133
rs1380718635
412 F>V No ClinGen
TOPMed
CA4782250
rs753496443
413 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4782251
rs761454524
414 N>H No ClinGen
ExAC
gnomAD
rs764789271
CA4782252
414 N>S No ClinGen
ExAC
gnomAD
CA4782253
rs749879752
415 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA179632417
rs990190701
417 S>R No ClinGen
TOPMed
gnomAD
rs751466126
CA4782256
422 D>E No ClinGen
ExAC
gnomAD
rs754732788
CA4782257
424 W>R No ClinGen
ExAC
gnomAD
rs1372704592
CA371539235
427 M>V No ClinGen
gnomAD
rs4092743
CA179632419
430 L>V No ClinGen
Ensembl
rs771256301
CA4782260
434 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 435 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779169421
CA4782261
436 D>N No ClinGen
ExAC
gnomAD
CA371539304
rs1476960498
437 S>N No ClinGen
gnomAD
CA4782263
rs145702999
438 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with P54274

5 regional properties for P54274

Type Name Position InterPro Accession
domain CARP motif 206 - 243 IPR006599-1
domain CARP motif 244 - 278 IPR006599-2
domain Tubulin binding cofactor C-like domain 199 - 316 IPR012945
domain C-CAP/cofactor C-like domain 163 - 318 IPR017901
domain Tubulin-specific chaperone C, N-terminal 26 - 134 IPR031925

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm, cytoskeleton, spindle
  • Chromosome, telomere
  • Colocalizes with telomeric DNA in interphase and prophase cells
  • Telomeric localization decreases in metaphase, anaphase and telophase
  • Associates with the mitotic spindle (PubMed:11943150)
  • Colocalizes with TRIOBP isoform 1 at the telomeres in interphase (PubMed:24692559)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
nuclear body Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nuclear telomere cap complex A complex of DNA and protein located at the end of a linear chromosome in the nucleus that protects and stabilizes a linear chromosome.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
shelterin complex A nuclear telomere cap complex that is formed by the association of telomeric ssDNA- and dsDNA-binding proteins with telomeric DNA, and is involved in telomere protection and recruitment of telomerase. The complex is known to contain TERF1, TERF2, POT1, RAP1, TINF2 and ACD in mammalian cells, and Pot1, Tpz1, Rap1, Rif1, Rif2 and Taz1 in Saccharomyces. Taz1 and Rap1 (or their mammalian equivalents) form a dsDNA-binding subcomplex, Pot1 and Tpz1 form an ssDNA-binding subcomplex, and the two subcomplexes are bridged by Poz1, which acts as an effector molecule along with Ccq1.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

11 GO annotations of molecular function

Name Definition
ankyrin repeat binding Binding to an ankyrin repeat of a protein. Ankyrin repeats are tandemly repeated modules of about 33 amino acids; each repeat folds into a helix-loop-helix structure with a beta-hairpin/loop region projecting out from the helices at a 90-degree angle, and repeats stack to form an L-shaped structure.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA binding, bending The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence.
double-stranded telomeric DNA binding Binding to double-stranded telomere-associated DNA.
G-rich strand telomeric DNA binding Binding to G-rich, single-stranded, telomere-associated DNA.
identical protein binding Binding to an identical protein or proteins.
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
protein C-terminus binding Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein homodimerization activity Binding to an identical protein to form a homodimer.
telomeric DNA binding Binding to a telomere, a specific structure at the end of a linear chromosome required for the integrity and maintenance of the end.

20 GO annotations of biological process

Name Definition
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
meiotic telomere clustering The cell cycle process in which the dynamic reorganization of telomeres occurs in early meiotic prophase, during which meiotic chromosome ends are gathered in a bouquet arrangement at the inner surface of the nuclear envelope proximal to the spindle pole body. This plays an important role in progression through meiosis and precedes synapsis.
negative regulation of DNA replication Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication.
negative regulation of establishment of protein localization to telomere Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization to telomere.
negative regulation of establishment of protein-containing complex localization to telomere Any process that stops, prevents or reduces the frequency, rate or extent of establishment of the localization of a protein-containing macromolecular complex to a telomere.
negative regulation of establishment of RNA localization to telomere Any process that stops, prevents or reduces the frequency, rate or extent of establishment of RNA localization to telomere.
negative regulation of exonuclease activity Any process that stops, prevents or reduces the frequency, rate or extent of exonuclease activity.
negative regulation of telomerase activity Any process that stops or reduces the activity of the enzyme telomerase, which catalyzes of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
negative regulation of telomere maintenance via semi-conservative replication Any process that stops, prevents, or reduces the frequency, rate or extent of the semi-conservative replication of telomeric DNA.
negative regulation of telomere maintenance via telomerase Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of telomeric repeats by telomerase.
negative regulation of telomere maintenance via telomere lengthening Any process that stops, prevents or reduces the frequency, rate or extent of telomere maintenance via telomere lengthening.
negative regulation of telomeric D-loop disassembly Any process that stops, prevents or reduces the frequency, rate or extent of telomeric D-loop disassembly.
positive regulation of shelterin complex assembly Any process that activates or increases the frequency, rate or extent of shelterin complex assembly.
positive regulation of telomere maintenance Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA.
response to xenobiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
t-circle formation A telomere maintenance process that results in the formation of a telomeric circle, or t-circle. A t-circle is an extrachromosomal duplex or single-stranded circular DNA molecule composed of t-arrays. T-circles are involved in the control of telomere length via alternative-lengthening of telomeres (ALT) pathway and telomere rapid deletion (TRD).
telomere capping A process in which telomeres are protected from degradation and fusion, thereby ensuring chromosome stability by protecting the ends from both degradation and from being recognized as damaged DNA. May be mediated by specific single- or double-stranded telomeric DNA binding proteins.
telomere maintenance Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences.
telomere maintenance via telomerase The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase.
telomeric D-loop disassembly A telomere loop disassembly process that results in the disassembly of telomeric D-loops. A telomeric D-loop is a three-stranded DNA displacement loop that forms at the site where the telomeric 3' single-stranded DNA overhang (formed of the repeat sequence TTAGGG in mammals) is tucked back inside the double-stranded component of telomeric DNA molecule, thus forming a t-loop or telomeric-loop and protecting the chromosome terminus.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P70371 Terf1 Telomeric repeat-binding factor 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MAEDVSSAAP SPRGCADGRD ADPTEEQMAE TERNDEEQFE CQELLECQVQ VGAPEEEEEE
70 80 90 100 110 120
EEDAGLVAEA EAVAAGWMLD FLCLSLCRAF RDGRSEDFRR TRNSAEAIIH GLSSLTACQL
130 140 150 160 170 180
RTIYICQFLT RIAAGKTLDA QFENDERITP LESALMIWGS IEKEHDKLHE EIQNLIKIQA
190 200 210 220 230 240
IAVCMENGNF KEAEEVFERI FGDPNSHMPF KSKLLMIISQ KDTFHSFFQH FSYNHMMEKI
250 260 270 280 290 300
KSYVNYVLSE KSSTFLMKAA AKVVESKRTR TITSQDKPSG NDVEMETEAN LDTRKSVSDK
310 320 330 340 350 360
QSAVTESSEG TVSLLRSHKN LFLSKLQHGT QQQDLNKKER RVGTPQSTKK KKESRRATES
370 380 390 400 410 420
RIPVSKSQPV TPEKHRARKR QAWLWEEDKN LRSGVRKYGE GNWSKILLHY KFNNRTSVML
430
KDRWRTMKKL KLISSDSED