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 P49888

Entry ID Method Resolution Chain Position Source
1G3M X-ray 170 A A/B 1-294 PDB
1HY3 X-ray 180 A A/B 1-294 PDB
4JVL X-ray 194 A A/B 1-294 PDB
4JVM X-ray 199 A A/B 1-294 PDB
4JVN X-ray 205 A A/B 1-294 PDB
AF-P49888-F1 Predicted AlphaFoldDB

259 variants for P49888

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 4 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357121063
rs1253443841
4 E>G No ClinGen
gnomAD
CA2947907
rs759418370
5 L>P No ClinGen
ExAC
gnomAD
rs1337948815
CA357121050
6 D>A No ClinGen
TOPMed
TCGA novel 6 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1337948815
CA357121052
6 D>G No ClinGen
TOPMed
CA357121054
rs776448035
6 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs776448035
CA2947906
6 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2947905
CA357121033
rs770601297
8 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA357121035
rs1212237289
8 Y>C No ClinGen
Ensembl
CA2947904
rs760568556
9 E>G No ClinGen
ExAC
gnomAD
CA357121018
rs1315010797
10 K>N No ClinGen
gnomAD
CA357121025
rs1212729292
10 K>Q No ClinGen
TOPMed
rs1283501045
CA552245759
13 E>V No ClinGen
gnomAD
CA98902879
rs951769166
14 V>I No ClinGen
TOPMed
rs1291656655
CA357120984
15 H>R No ClinGen
gnomAD
rs1578107632
CA357120986
15 H>Y No ClinGen
Ensembl
CA2947901
rs771777989
16 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA98902869
rs756987917
16 G>R No ClinGen
Ensembl
CA357120973
rs1356472094
17 I>N No ClinGen
gnomAD
COSM1540959
CA2947900
rs747589749
18 L>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357120962
rs1452112056
19 M>T No ClinGen
gnomAD
CA2947899
rs778407495
20 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA357120941
rs11569705
22 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_018907
CA2947898
rs11569705
22 D>Y No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA357120929
rs1400776691
23 F>C No ClinGen
gnomAD
TCGA novel 23 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357120924
rs1413605093
24 V>F No ClinGen
gnomAD
rs995933228
CA98902826
29 N>I No ClinGen
TOPMed
gnomAD
CA98902800
rs965838849
29 N>K No ClinGen
TOPMed
gnomAD
CA2947896
rs780646274
30 V>A No ClinGen
ExAC
gnomAD
CA357120872
rs1462302523
31 E>G No ClinGen
TOPMed
rs34547148
CA2947895
32 A>V Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781501252
CA2947893
34 Q>K No ClinGen
ExAC
gnomAD
CA2947892
rs150180382
35 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140959829
CA2947891
36 R>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA357120807
rs1295363573
41 V>F No ClinGen
gnomAD
rs994190559
CA98902757
42 I>V No ClinGen
Ensembl
CA98902756
rs370310742
43 A>D No ClinGen
Ensembl
CA357120795
rs1380820438
43 A>T No ClinGen
gnomAD
CA357120791
rs1340652336
44 T>A No ClinGen
TOPMed
CA98902750
rs771011878
46 P>L No ClinGen
Ensembl
rs1361781887
CA357120771
47 K>* No ClinGen
gnomAD
CA357120772
rs1361781887
47 K>E No ClinGen
gnomAD
CA357120762
rs1336407598
48 S>C No ClinGen
TOPMed
CA98902734
rs1052854963
48 S>P No ClinGen
TOPMed
CA357120760
rs1210226778
49 G>S No ClinGen
TOPMed
CA357120648
rs1460190031
49 G>V No ClinGen
gnomAD
CA2947866
rs761632873
51 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA357120624
rs1170826222
51 T>I No ClinGen
gnomAD
rs1393123762
CA357120603
53 V>F No ClinGen
TOPMed
gnomAD
CA357120601
rs1393123762
53 V>I No ClinGen
TOPMed
gnomAD
rs1169474896
CA357120585
54 S>N No ClinGen
TOPMed
CA98900940
rs151059452
56 I>T No ClinGen
ESP
TOPMed
CA2947862
rs762363288
59 M>I No ClinGen
ExAC
gnomAD
rs374660092
CA2947863
59 M>R No ClinGen
ESP
ExAC
gnomAD
rs1165860521
CA357120495
60 I>T No ClinGen
TOPMed
gnomAD
CA2947861
rs565167986
60 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs770155636
CA2947860
63 E>V No ClinGen
ExAC
gnomAD
CA357120413
rs1385185213
67 E>K No ClinGen
TOPMed
rs1346169151
CA357120384
68 K>N No ClinGen
gnomAD
rs898450686
CA98900892
69 C>* No ClinGen
TOPMed
TCGA novel 69 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746411706
CA2947859
72 D>N No ClinGen
ExAC
gnomAD
CA2947858
rs546818174
73 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1346200852
CA357120301
74 I>V No ClinGen
TOPMed
COSM195320
rs143726522
CA2947856
77 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1057027
CA2947855
rs561070029
77 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2947854
rs758649472
79 P>T No ClinGen
ExAC
gnomAD
TCGA novel 82 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1431397129
CA357120118
83 C>F No ClinGen
gnomAD
CA98900854
rs201713752
84 R>K No ClinGen
1000Genomes
rs779072453
CA2947852
86 E>G No ClinGen
ExAC
TOPMed
rs779072453
CA357120075
86 E>V No ClinGen
ExAC
TOPMed
rs1373462403
CA357120060
87 N>T No ClinGen
gnomAD
CA2947851
rs369931271
88 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2947849
rs767488336
90 N>S No ClinGen
ExAC
gnomAD
rs1260261039
CA357119954
91 G>E No ClinGen
gnomAD
COSM345654
CA98900096
CA357119941
rs1039261878
92 V>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs781100262
CA2947827
94 Q>H No ClinGen
ExAC
gnomAD
CA357119898
rs1229728603
94 Q>L No ClinGen
gnomAD
CA357119849
rs1560557484
98 M>R No ClinGen
Ensembl
CA357119841
rs1448400065
99 N>Y No ClinGen
TOPMed
gnomAD
CA357119823
rs1578106152
101 P>L No ClinGen
Ensembl
CA357119822
rs1578106137
102 R>G No ClinGen
Ensembl
CA357119808
rs1342112380
104 V>M No ClinGen
gnomAD
TCGA novel 106 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 107 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357119784
rs1316115370
107 H>R No ClinGen
gnomAD
rs1381627195
CA357119774
108 L>F No ClinGen
gnomAD
rs1389330164
CA357119767
110 P>S No ClinGen
gnomAD
rs757187819
CA2947826
111 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 112 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751266095
CA2947825
112 L>H No ClinGen
ExAC
gnomAD
rs1390191954
CA357119742
114 P>A No ClinGen
TOPMed
CA357119735
rs1422748137
115 A>T No ClinGen
TOPMed
rs369730845
CA98900074
116 S>L No ClinGen
ESP
TOPMed
CA357119707
rs1399809857
118 W>* No ClinGen
TOPMed
rs758171863
CA2947823
119 E>A No ClinGen
ExAC
gnomAD
rs377668366
CA2947821
121 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA357119640
rs1250466056
122 C>S No ClinGen
gnomAD
CA2947818
rs766932921
123 K>E No ClinGen
ExAC
gnomAD
rs369506037
CA2947817
123 K>R No ClinGen
ESP
ExAC
gnomAD
rs767962674
CA2947796
COSM3767958
126 Y>C liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs767962674
CA2947797
126 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA357118904
rs1438726969
127 L>V No ClinGen
TOPMed
gnomAD
CA357118896
rs1334143781
128 C>G No ClinGen
gnomAD
CA2947794
COSM1057025
rs774700339
129 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762229711
CA2947795
129 R>W Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2947793
rs777085255
130 N>H No ClinGen
ExAC
gnomAD
rs200590298
CA2947792
131 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775733144
CA357118858
134 V>L No ClinGen
ExAC
gnomAD
CA2947791
rs775733144
134 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM448076
rs769898905
CA2947790
135 A>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2947787
rs75140571
136 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs75140571
CA2947786
136 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA2947788
rs757405253
136 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA357118844
rs1208507410
137 S>P No ClinGen
gnomAD
rs1347002481
CA357118829
139 Y>F No ClinGen
gnomAD
rs1215845180
CA357118819
140 Y>F No ClinGen
gnomAD
rs1220949195
COSM1057024
CA357118810
141 F>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA98896908
rs140624175
144 M>R No ClinGen
ESP
TOPMed
gnomAD
CA357118756
rs200443686
145 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200443686
CA2947783
145 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1578104155
CA357118739
146 A>G No ClinGen
Ensembl
CA357118728
rs1410720963
147 G>A No ClinGen
gnomAD
rs779900694
CA2947782
148 H>N No ClinGen
ExAC
gnomAD
TCGA novel 148 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201072711
CA2947781
149 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs899287541
CA98896885
149 P>L No ClinGen
TOPMed
rs201072711
CA98896890
149 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357118695
rs1414567936
150 N>D No ClinGen
TOPMed
gnomAD
rs980448935
CA98896858
150 N>S No ClinGen
gnomAD
CA2947780
rs749963767
153 S>C No ClinGen
ExAC
gnomAD
CA98896848
rs749963767
153 S>F No ClinGen
ExAC
gnomAD
rs17852473
CA98896843
154 F>L No ClinGen
Ensembl
CA357118663
rs1405231725
154 F>S No ClinGen
gnomAD
CA357118650
rs1167660789
155 P>L No ClinGen
TOPMed
rs1578104125
CA357118654
155 P>S No ClinGen
Ensembl
CA98896832
rs202059677
157 F>L No ClinGen
1000Genomes
CA2947778
rs200323054
159 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA357118576
rs1472692670
160 K>N No ClinGen
TOPMed
gnomAD
CA98896831
rs761297230
161 F>V No ClinGen
Ensembl
CA2947777
rs751883127
162 M>I No ClinGen
ExAC
gnomAD
rs764414923
CA2947776
163 Q>* No ClinGen
ExAC
gnomAD
rs764414923
CA357118532
163 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 164 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763360917
CA2947775
164 G>V No ClinGen
ExAC
gnomAD
CA357118361
rs1426530600
166 V>A No ClinGen
TOPMed
gnomAD
CA98895653
rs766053586
167 P>L No ClinGen
Ensembl
TCGA novel 169 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA98895651
rs990652773
171 W>L No ClinGen
TOPMed
CA2947743
rs745480703
173 K>* No ClinGen
ExAC
gnomAD
rs756748070
CA2947741
174 H>L No ClinGen
ExAC
gnomAD
CA2947742
rs780948555
174 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs187665009
CA98895628
175 V>I No ClinGen
1000Genomes
gnomAD
CA98895624
rs762141758
177 S>C No ClinGen
Ensembl
CA357118247
rs1341977417
178 W>* No ClinGen
TOPMed
gnomAD
CA357118249
rs746588635
178 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs746588635
CA2947740
178 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA357118240
rs1231316037
179 W>L No ClinGen
gnomAD
CA2947739
rs778190574
179 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs761102787
CA357118236
180 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA2947737
rs761102787
180 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761102787
CA2947738
180 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs1298507007
CA357118224
181 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA2947736
rs779178976
182 G>V No ClinGen
ExAC
gnomAD
rs375695702
CA98895603
183 K>N No ClinGen
ESP
TCGA novel 184 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753982089
CA2947734
186 R>C Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2947735
rs753982089
186 R>G No ClinGen
ExAC
gnomAD
CA2947733
rs143807523
186 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143807523
CA98895582
186 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA357118191
rs750534499
187 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA2947731
rs750534499
187 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA357118176
rs1431509890
190 L>I No ClinGen
gnomAD
rs1198182168
CA357118165
191 F>L No ClinGen
TOPMed
gnomAD
CA2947730
rs370876189
191 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2947729
rs763005303
192 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1433851522
CA357118162
192 Y>H No ClinGen
gnomAD
rs769456468
COSM1671053
CA2947727
193 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1578102027
CA357117642
199 I>F No ClinGen
Ensembl
CA98892873
COSM734866
rs961222753
202 E>K lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA2947706
rs770525356
204 I>K No ClinGen
ExAC
gnomAD
CA2947707
rs770525356
204 I>T No ClinGen
ExAC
gnomAD
CA357117567
rs1333400088
204 I>V No ClinGen
TOPMed
gnomAD
CA357117516
rs760355185
207 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs760355185
CA2947705
207 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA357117467
rs1560554129
210 L>Q No ClinGen
Ensembl
rs1318565962
CA357117459
211 E>G No ClinGen
gnomAD
CA357117448
rs1185755140
213 K>E No ClinGen
gnomAD
CA2947704
rs772895034
213 K>R No ClinGen
ExAC
gnomAD
rs373853968
CA2947702
214 P>T No ClinGen
ESP
ExAC
gnomAD
rs779280969
CA2947701
COSM1186580
218 L>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA98892816
rs779280969
218 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs201005072
CA2947700
220 D>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 221 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 223 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA357117304
rs1444588366
224 H>R No ClinGen
TOPMed
gnomAD
rs140157798
CA2947698
225 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2947697
rs756363002
226 T>I No ClinGen
ExAC
gnomAD
rs756363002
CA357117274
226 T>S No ClinGen
ExAC
gnomAD
CA2947696
rs201902818
227 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1353949306
CA357117232
229 Q>* No ClinGen
gnomAD
rs757281208
CA2947694
229 Q>R No ClinGen
ExAC
gnomAD
rs1560554082
CA357117191
233 N>D No ClinGen
Ensembl
rs754969833
CA2947691
235 P>Q No ClinGen
ExAC
gnomAD
CA357117173
rs754969833
235 P>R No ClinGen
ExAC
gnomAD
rs1181745949
CA357117142
240 T>A No ClinGen
TOPMed
rs1028422269
CA98892750
240 T>R No ClinGen
Ensembl
CA357117137
rs1403778910
241 T>A No ClinGen
gnomAD
rs1027244955
CA98892748
243 P>T No ClinGen
TOPMed
gnomAD
rs546191623
CA2947689
244 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA357117112
rs1578101927
245 E>G No ClinGen
Ensembl
CA2947687
rs772834116
COSM448075
245 E>K breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1413235220
CA357117107
246 I>L No ClinGen
TOPMed
rs1188553969
CA357117094
247 M>I No ClinGen
gnomAD
CA2947686
rs767220507
249 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA2947685
rs761157490
252 S>L Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA98892694
COSM1671052
rs11569712
253 P>H kidney [Cosmic] No ClinGen
cosmic curated
Ensembl
CA357117055
rs1230054260
253 P>S No ClinGen
TOPMed
rs746067466
CA98892689
254 F>C No ClinGen
Ensembl
rs1279885651
CA357117040
255 M>I No ClinGen
TOPMed
CA2947683
rs768994692
255 M>T No ClinGen
ExAC
gnomAD
COSM1430720
rs1271614778
CA357117043
255 M>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2947682
rs749832097
257 K>R No ClinGen
ExAC
gnomAD
TCGA novel 257 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2947659
rs375271880
260 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA2947658
rs372760545
260 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748291221
CA2947656
261 G>E No ClinGen
ExAC
gnomAD
CA2947657
rs772175816
261 G>R No ClinGen
ExAC
gnomAD
TCGA novel 262 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1172688138
CA357116976
263 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA357116953
rs1481185629
266 H>R No ClinGen
gnomAD
CA2947653
rs756055656
267 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1409331095
COSM1179875
CA357116945
267 F>S prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
CA98890682
rs1029957861
270 A>S No ClinGen
Ensembl
rs200630976
CA98890680
270 A>V No ClinGen
gnomAD
rs1208001735
CA357116926
271 L>M No ClinGen
gnomAD
rs998851317
CA98890668
274 K>E No ClinGen
TOPMed
rs1489081047
CA357116900
274 K>N No ClinGen
TOPMed
CA2947651
rs181450741
274 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA357116871
rs1193885357
278 H>R No ClinGen
TOPMed
rs1221033541
CA357116864
279 Y>C No ClinGen
gnomAD
CA2947650
rs757040136
279 Y>H No ClinGen
ExAC
gnomAD
CA98890651
rs375864132
280 E>K No ClinGen
ESP
gnomAD
CA357116851
rs1229388897
281 Q>* No ClinGen
gnomAD
rs1352776526
CA357116833
283 M>T No ClinGen
gnomAD
CA98890646
rs1020568528
287 T>I No ClinGen
TOPMed
gnomAD
rs763722636
CA2947648
289 K>* No ClinGen
ExAC
gnomAD
CA357116793
rs1457203016
289 K>R No ClinGen
gnomAD
CA357116794
rs1457203016
289 K>T No ClinGen
gnomAD
CA98890644
rs865944040
290 F>L No ClinGen
Ensembl
rs202067669
CA98890643
291 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM1057019
CA2947646
rs748563147
291 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA357116775
rs1453193404
292 T>S No ClinGen
TOPMed
rs765790939
CA2947645
293 E>D No ClinGen
ExAC
CA98890635
rs1007085224
294 I>F No ClinGen
Ensembl
TCGA novel 295 I>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with P49888

1 regional properties for P49888

Type Name Position InterPro Accession
domain Sulfotransferase domain 37 - 286 IPR000863

Functions

Description
EC Number 2.8.2.4 Sulfotransferases
Subcellular Localization
  • Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 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.
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.

6 GO annotations of molecular function

Name Definition
aryl sulfotransferase activity Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + a phenol = adenosine 3',5'-bisphosphate + an aryl sulfate.
estrone sulfotransferase activity Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + estrone = adenosine 3',5'-bisphosphate + estrone 3-sulfate.
flavonol 3-sulfotransferase activity Catalysis of the reaction: 3'-phospho-5'-adenylyl sulfate + quercetin = adenosine 3',5'-diphosphate + H(+) + quercetin 3-sulfate.
steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene.
steroid sulfotransferase activity Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + a phenolic steroid = adenosine 3',5'-bisphosphate + steroid O-sulfate.
sulfotransferase activity Catalysis of the transfer of a sulfate group from 3'-phosphoadenosine 5'-phosphosulfate to the hydroxyl group of an acceptor, producing the sulfated derivative and 3'-phosphoadenosine 5'-phosphate.

7 GO annotations of biological process

Name Definition
3'-phosphoadenosine 5'-phosphosulfate metabolic process The chemical reactions and pathways involving 3'-phosphoadenosine 5'-phosphosulfate, a naturally occurring mixed anhydride. It is an intermediate in the formation of a variety of sulfo compounds in biological systems.
estrogen catabolic process The chemical reactions and pathways resulting in the breakdown of estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants.
estrogen metabolic process The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants.
ethanol catabolic process The chemical reactions and pathways resulting in the breakdown of ethanol, CH3-CH2-OH, a colorless, water-miscible, flammable liquid produced by alcoholic fermentation.
positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation.
steroid metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.
sulfation The addition of a sulfate group to a molecule.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P19217 SULT1E1 Sulfotransferase 1E1 Bos taurus (Bovine) PR
Q06520 SULT2A1 Sulfotransferase 2A1 Homo sapiens (Human) PR
Q9BR01 SULT4A1 Sulfotransferase 4A1 Homo sapiens (Human) PR
O35403 Sult3a1 Amine sulfotransferase Mus musculus (Mouse) PR
Q3UZZ6 Sult1d1 Sulfotransferase 1 family member D1 Mus musculus (Mouse) PR
P0CC03 Sult6b1 Sulfotransferase 6B1 Mus musculus (Mouse) PR
P49891 Sult1e1 Sulfotransferase 1E1 Mus musculus (Mouse) PR
P17988 Sult1a1 Sulfotransferase 1A1 Rattus norvegicus (Rat) PR
P49890 Ste2 Estrogen sulfotransferase Ste2 Rattus norvegicus (Rat) PR
P49889 Ste Estrogen sulfotransferase, isoform 3 Rattus norvegicus (Rat) PR
Q9FX55 STO9 Cytosolic sulfotransferase 9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9STQ6 SOT3 Cytosolic sulfotransferase 3 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MNSELDYYEK FEEVHGILMY KDFVKYWDNV EAFQARPDDL VIATYPKSGT TWVSEIVYMI
70 80 90 100 110 120
YKEGDVEKCK EDVIFNRIPF LECRKENLMN GVKQLDEMNS PRIVKTHLPP ELLPASFWEK
130 140 150 160 170 180
DCKIIYLCRN AKDVAVSFYY FFLMVAGHPN PGSFPEFVEK FMQGQVPYGS WYKHVKSWWE
190 200 210 220 230 240
KGKSPRVLFL FYEDLKEDIR KEVIKLIHFL ERKPSEELVD RIIHHTSFQE MKNNPSTNYT
250 260 270 280 290
TLPDEIMNQK LSPFMRKGIT GDWKNHFTVA LNEKFDKHYE QQMKESTLKF RTEI