Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

4 structures for P22680

Entry ID Method Resolution Chain Position Source
3DAX X-ray 215 A A/B 25-503 PDB
3SN5 X-ray 275 A A/B 25-503 PDB
3V8D X-ray 190 A A/B 25-503 PDB
AF-P22680-F1 Predicted AlphaFoldDB

437 variants for P22680

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV002535386
RCV000734630
CA177300274
rs922546527
108 A>T Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA4756655
RCV002535146
RCV000730188
rs539485428
364 R>Q Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA4756914
rs763096344
4 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763096344
CA371298657
4 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA371298616
rs1459584618
5 S>C No ClinGen
TOPMed
RCV000733746
CA4756912
rs528066345
9 G>R No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs771917069
CA4756909
10 I>V No ClinGen
ExAC
TOPMed
rs745519772
CA4756908
11 A>V No ClinGen
ExAC
gnomAD
CA4756907
rs778544430
13 A>T No ClinGen
ExAC
gnomAD
rs147162838
CA4756906
RCV000593135
13 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1014526226
CA177300750
15 C>R No ClinGen
TOPMed
CA371298425
rs1480684850
16 C>S No ClinGen
TOPMed
rs748850568
CA4756905
16 C>Y No ClinGen
ExAC
gnomAD
CA371298389
rs1350022744
17 C>S No ClinGen
TOPMed
gnomAD
rs1350022744
CA371298391
17 C>Y No ClinGen
TOPMed
gnomAD
rs778099251
CA4756904
18 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA371298365
rs1180280041
19 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA4756902
rs200846540
27 R>M No ClinGen
1000Genomes
ExAC
gnomAD
rs752006313
CA4756881
28 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA4756880
rs780606427
29 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA371297086
rs780606427
29 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs754562223
CA4756877
30 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA4756876
rs761807364
32 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1367645025
CA371297052
33 P>S No ClinGen
gnomAD
rs1434830576
CA371297037
34 L>P No ClinGen
gnomAD
rs1295805340
CA371297040
34 L>V No ClinGen
gnomAD
RCV000338265
rs138113674
CA4756875
36 N>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4756874
rs767467704
40 P>S No ClinGen
ExAC
gnomAD
rs1356970363
CA371296955
41 Y>H No ClinGen
gnomAD
rs1429939198
CA371296942
42 L>V No ClinGen
gnomAD
rs1554558878
RCV000598476
COSM454710
CA371296906
45 A>S Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA371296886
rs1216827686
47 Q>* No ClinGen
TOPMed
CA371296873
rs1345898355
48 F>V No ClinGen
TOPMed
rs180916341
CA4756869
49 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4756870
COSM1100722
rs762648850
49 G>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA371296853
rs180916341
49 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 50 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371296807
rs1256765959
52 P>R No ClinGen
gnomAD
rs189424028
CA4756868
RCV000727970
53 L>F No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA4756866
rs148278254
54 E>D No ClinGen
ESP
ExAC
gnomAD
CA4756867
rs747673005
54 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA177300481
rs969443490
57 R>G No ClinGen
TOPMed
rs769256926
CA4756865
58 A>V No ClinGen
ExAC
gnomAD
CA4756864
rs747570322
60 Q>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 62 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4756863
rs780453940
63 H>N No ClinGen
ExAC
gnomAD
CA177300475
rs113258453
63 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1476565097
CA371296544
63 H>R No ClinGen
TOPMed
rs1563484926
RCV000731655
CA371296506
64 G>D No ClinGen
ClinVar
Ensembl
dbSNP
rs750595419
CA371296495
65 H>D No ClinGen
ExAC
gnomAD
rs750595419
CA4756861
65 H>Y No ClinGen
ExAC
gnomAD
rs1467207833
CA371296445
67 F>S No ClinGen
TOPMed
rs143198855
CA177300471
68 T>I No ClinGen
ESP
TOPMed
RCV000593605
rs1554558853
CA371296390
69 C>F No ClinGen
ClinVar
Ensembl
dbSNP
CA371296280
rs753952585
73 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs753952585
CA4756858
73 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs377254635
CA4756857
75 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA177300467
rs377254635
75 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371296216
rs1428867550
76 V>I No ClinGen
TOPMed
gnomAD
rs751553125
CA4756855
77 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA177300465
rs751553125
77 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA4756854
rs766189113
78 F>I No ClinGen
ExAC
gnomAD
rs762661210
CA4756853
79 I>V No ClinGen
ExAC
gnomAD
TCGA novel 82 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371296024
rs1249881963
84 S>P No ClinGen
gnomAD
rs545869846
CA4756850
85 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs545869846
CA371295992
85 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
rs62621283
CA4756849
VAR_059152
RCV000963911
86 H>N No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA177300459
rs62621283
86 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1267555538
CA371295953
87 K>E No ClinGen
TOPMed
gnomAD
CA177300456
rs1026092643
90 C>* No ClinGen
Ensembl
rs267601959
CA177300453
92 G>E No ClinGen
Ensembl
CA4756846
rs775869319
92 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 94 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772428979
CA4756845
96 D>A No ClinGen
ExAC
TOPMed
rs772428979
CA177300450
96 D>G No ClinGen
ExAC
TOPMed
rs753399056
CA371295645
96 D>H No ClinGen
gnomAD
rs753399056
CA177300452
96 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4756842
rs757436505
99 K>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 99 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4756843
rs757436505
99 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs200836103
CA4756839
100 F>C No ClinGen
1000Genomes
ExAC
gnomAD
CA4756840
rs777813512
100 F>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_001259 100 F>S No UniProt
CA177300444
rs899803163
104 T>S No ClinGen
TOPMed
gnomAD
rs766241318
CA4756837
105 S>A No ClinGen
ExAC
gnomAD
CA371295291
rs1181579739
105 S>C No ClinGen
gnomAD
rs750214616
CA4756836
RCV000731926
106 A>E No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs750214616
CA4756835
106 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4756832
rs535484729
107 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761546326
CA4756833
107 K>T No ClinGen
ExAC
gnomAD
CA371295031
rs922546527
108 A>S No ClinGen
gnomAD
CA177300272
rs976616207
108 A>V No ClinGen
Ensembl
rs1369817379
CA371294972
111 H>Q No ClinGen
gnomAD
CA177300270
rs577011584
112 R>G No ClinGen
1000Genomes
CA4756815
rs757122872
112 R>K No ClinGen
ExAC
gnomAD
rs753487730
CA4756814
113 S>N No ClinGen
ExAC
gnomAD
rs753487730
CA371294953
113 S>T No ClinGen
ExAC
gnomAD
rs763865825
CA4756813
114 I>T No ClinGen
ExAC
gnomAD
CA4756812
rs760194463
116 P>L No ClinGen
ExAC
TOPMed
gnomAD
RCV000732628
rs1563484457
CA371294918
116 P>S No ClinGen
ClinVar
Ensembl
dbSNP
CA4756810
rs372015675
117 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 118 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 121 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1171018064
CA371294817
124 N>K No ClinGen
gnomAD
CA4756809
rs759944158
126 N>K No ClinGen
ExAC
gnomAD
rs1018490874
CA177300263
127 D>G No ClinGen
Ensembl
rs1391016723
COSM298632
CA371294791
127 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 129 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4756807
rs771215892
130 I>F No ClinGen
ExAC
gnomAD
rs771215892
CA4756808
130 I>V No ClinGen
ExAC
gnomAD
CA371294709
rs1198262246
134 Q>* No ClinGen
gnomAD
CA371294712
rs1198262246
134 Q>K No ClinGen
gnomAD
CA371294704
rs1346619804
134 Q>L No ClinGen
gnomAD
CA4756802
rs781119853
135 G>D No ClinGen
ExAC
gnomAD
CA4756801
rs768849156
138 L>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 139 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4756800
rs779007978
142 T>K No ClinGen
ExAC
gnomAD
COSM1202906
CA4756799
rs779007978
142 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
RCV000315439
CA10605913
rs886043760
143 E>K No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA371294597
rs1191355886
144 S>N No ClinGen
TOPMed
CA371294582
rs1371380962
145 M>R No ClinGen
TOPMed
gnomAD
rs1414257275
CA371294588
145 M>V No ClinGen
gnomAD
CA4756798
rs757073508
146 M>T No ClinGen
ExAC
gnomAD
rs753721942
CA4756797
149 L>I No ClinGen
ExAC
gnomAD
rs1419311083
CA371294524
150 Q>E No ClinGen
gnomAD
rs201114135
CA371294510
COSM1457633
151 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA177300249
rs201114135
151 R>G No ClinGen
gnomAD
rs777753834
CA4756796
151 R>H No ClinGen
ExAC
gnomAD
CA371294506
rs777753834
151 R>P No ClinGen
ExAC
gnomAD
rs1184707982
CA371294497
152 I>T No ClinGen
gnomAD
CA371294488
rs1160411231
153 M>T No ClinGen
TOPMed
rs1361955643
COSM1202905
CA371294480
154 R>K large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs939210405
CA177300247
COSM1100719
155 P>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA4756793
rs752449158
157 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA177300244
rs368522187
158 S>C No ClinGen
ESP
rs1563484353
CA371294446
158 S>T No ClinGen
Ensembl
rs759086567
CA4756791
160 N>K No ClinGen
ExAC
gnomAD
rs1246691908
CA371294406
161 S>A No ClinGen
TOPMed
gnomAD
rs886353028
CA371294362
163 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs886353028
CA177300240
163 T>S No ClinGen
TOPMed
gnomAD
CA371294357
rs1351261361
164 A>D No ClinGen
gnomAD
rs766893445
CA371294359
164 A>S No ClinGen
ExAC
gnomAD
RCV000390157
rs766893445
CA4756789
164 A>T Variant assessed as Somatic; 5.096e-05 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
rs906511867
CA177300237
165 A>T No ClinGen
Ensembl
CA371294343
RCV000734574
rs1354168442
166 W>* No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA371294338
rs1354168442
COSM751110
166 W>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1408171822
CA371294349
166 W>R No ClinGen
gnomAD
rs763263465
CA4756788
169 E>D No ClinGen
ExAC
gnomAD
rs1407459669
CA371294291
170 G>V No ClinGen
gnomAD
rs773532618
CA4756787
171 M>L No ClinGen
ExAC
gnomAD
CA371294257
TCGA novel
rs1464005837
172 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA371294263
rs1585643966
172 Y>C No ClinGen
Ensembl
CA177300235
rs1046698163
173 S>A No ClinGen
TOPMed
CA4756785
rs761938421
177 R>* No ClinGen
ExAC
gnomAD
rs776916391
CA4756784
177 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4756783
rs768561553
178 V>M No ClinGen
ExAC
gnomAD
CA371294173
rs1265587357
179 M>I No ClinGen
TOPMed
rs747138282
CA4756782
182 A>S No ClinGen
ExAC
gnomAD
rs1222007109
CA371294126
183 G>R No ClinGen
gnomAD
CA4756781
rs778958664
185 L>* No ClinGen
ExAC
gnomAD
rs1287639962
CA371294077
186 T>I No ClinGen
gnomAD
rs770963981
CA4756780
187 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4756779
rs749290143
190 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4756778
rs776702193
191 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA4756777
rs756001088
192 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA4756776
rs72647413
RCV000729753
193 T>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374585203
CA4756775
194 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371293970
rs1563484266
194 R>S No ClinGen
Ensembl
rs201046553
CA4756773
195 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM2719734
rs771901033
CA4756774
RCV000729085
195 R>W central_nervous_system [Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA371293953
rs1458172567
196 D>G No ClinGen
gnomAD
rs765911554
CA4756772
198 Q>* No ClinGen
ExAC
rs1391471723
CA371293913
199 K>R No ClinGen
gnomAD
CA177300215
rs930310389
201 H>Q No ClinGen
TOPMed
gnomAD
rs765455964
CA4756769
201 H>R No ClinGen
ExAC
gnomAD
CA4756770
rs750996469
201 H>Y No ClinGen
ExAC
gnomAD
CA371293851
rs1478880503
204 N>H No ClinGen
gnomAD
CA371293841
rs1250846388
204 N>K No ClinGen
gnomAD
CA371293800
rs558718775
207 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs568918027
CA4756767
207 D>H No ClinGen
1000Genomes
ExAC
gnomAD
CA371293734
rs1316452469
211 Q>R No ClinGen
TOPMed
gnomAD
CA4756765
rs761022978
COSM3766786
212 F>I liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs370087640
CA371293725
212 F>L No ClinGen
ESP
ExAC
TOPMed
rs773285427
CA4756761
213 D>G No ClinGen
ExAC
gnomAD
rs749230759
CA4756763
213 D>H No ClinGen
ExAC
gnomAD
rs749230759
COSM1100716
CA4756762
213 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA177300207
rs925723960
214 K>E No ClinGen
TOPMed
gnomAD
CA371293707
rs1314040550
215 V>A No ClinGen
TOPMed
CA177300205
rs747942969
218 A>D No ClinGen
Ensembl
rs1389461227
CA371293670
221 A>V No ClinGen
gnomAD
rs1319185520
CA371293664
222 G>D No ClinGen
gnomAD
TCGA novel 222 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 224 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1450992936
CA371293653
224 P>L No ClinGen
gnomAD
CA177300199
rs945734831
224 P>S No ClinGen
Ensembl
rs922242272
CA177300197
225 I>F No ClinGen
Ensembl
rs911358597
CA177300195
226 H>Q No ClinGen
TOPMed
gnomAD
TCGA novel 228 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371293628
rs1415758299
228 F>V No ClinGen
gnomAD
rs747994158
CA4756758
231 A>S No ClinGen
ExAC
gnomAD
COSM1457630
CA4756757
rs780668040
231 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4756755
rs746711199
232 H>Y No ClinGen
ExAC
gnomAD
CA4756754
VAR_018376
rs8192874
COSM1457629
233 N>S large_intestine [Cosmic] No ClinGen
cosmic curated
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1212338772
CA371293586
234 A>V No ClinGen
gnomAD
CA4756753
rs141299456
RCV000731674
235 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs778528720
CA177300188
235 R>W No ClinGen
gnomAD
rs192455108
CA4756752
239 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA371293554
rs1563484152
240 E>* No ClinGen
Ensembl
rs146594981
CA177300184
241 S>N No ClinGen
ESP
TOPMed
gnomAD
CA177300182
rs373964068
243 R>K No ClinGen
ESP
TOPMed
rs370924818
CA4756748
244 H>Q No ClinGen
ESP
ExAC
gnomAD
rs760969537
CA4756747
245 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1449615116
CA371293521
245 E>K No ClinGen
gnomAD
rs376522590
CA4756746
248 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767634039
CA371293487
249 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4756744
rs150039957
250 R>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 252 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4756743
rs530012264
253 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA371293441
rs1414482574
254 S>A No ClinGen
gnomAD
rs1183620680
CA371293432
RCV000729483
255 E>K No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
TCGA novel 256 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200100159
CA177300170
257 I>S No ClinGen
1000Genomes
COSM310454
rs1484757800
CA371293385
258 S>I lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1484757800
CA371293387
258 S>N No ClinGen
TOPMed
gnomAD
COSM422096
CA371293382
rs1450713836
258 S>R urinary_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
CA4756738
rs139396617
260 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3699122
rs139396617
CA4756737
RCV000324317
260 R>L large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1026171025
CA177300166
260 R>S No ClinGen
TOPMed
gnomAD
CA4756736
rs771524490
261 M>T No ClinGen
ExAC
gnomAD
CA371293341
rs1227195073
262 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs151320685
CA177300162
264 N>S No ClinGen
ESP
TOPMed
gnomAD
rs1563484081
CA371293299
265 D>Y No ClinGen
Ensembl
CA4756732
rs565488904
269 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1024942782
CA177300156
272 D>A No ClinGen
TOPMed
gnomAD
RCV000727980
rs778199686
CA4756730
COSM3834864
273 L>P Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
CA371293146
rs1350372922
276 A>D No ClinGen
gnomAD
rs756548694
CA4756729
276 A>P No ClinGen
ExAC
gnomAD
COSM1457628
CA371293088
rs1210055982
281 V>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA4756727
rs767871705
283 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs528732489
CA4756726
284 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs528732489
CA4756725
284 W>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA371293046
rs1182997313
285 A>T No ClinGen
TOPMed
gnomAD
rs766417104
COSM606104
CA4756724
286 S>L lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1428300224
CA371293004
291 I>T No ClinGen
TOPMed
CA4756722
rs776499055
291 I>V No ClinGen
ExAC
gnomAD
CA371292992
rs768382295
293 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA4756721
rs768382295
293 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs760487952
CA4756720
295 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA371292970
rs535428616
CA4756719
296 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA371292976
rs1212431115
296 W>R No ClinGen
gnomAD
rs771684358
CA4756718
297 S>C No ClinGen
ExAC
gnomAD
CA371292956
rs1228501501
298 L>F No ClinGen
gnomAD
CA371292947
rs1337108179
300 Q>K No ClinGen
gnomAD
CA4756717
rs745559202
301 M>T No ClinGen
ExAC
gnomAD
rs142476981
CA4756716
303 R>K No ClinGen
ESP
ExAC
gnomAD
RCV000122470
CA232149
rs386352295
303 R>W No ClinGen
ClinVar
Ensembl
dbSNP
CA4756698
rs759226176
305 P>L No ClinGen
ExAC
gnomAD
rs773883139
CA4756697
306 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA371292513
rs1382956556
306 E>D No ClinGen
gnomAD
CA371292511
rs1158082014
307 A>S No ClinGen
gnomAD
CA177299683
rs1018695052
307 A>V No ClinGen
Ensembl
rs997514726
CA177299682
308 M>T No ClinGen
TOPMed
CA371292490
rs1226796958
310 A>S No ClinGen
TOPMed
RCV000597848
rs140288234
CA4756696
313 E>K No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA371292463
rs1379619448
314 E>* No ClinGen
gnomAD
CA4756695
rs147153175
315 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371292441
rs1249151601
317 R>K No ClinGen
gnomAD
rs1249151601
CA371292440
317 R>T No ClinGen
gnomAD
rs1445792240
CA371292428
319 L>S No ClinGen
gnomAD
rs1476719974
CA371292411
321 N>T No ClinGen
gnomAD
CA177299679
rs779835043
322 A>D No ClinGen
TOPMed
gnomAD
CA177299677
rs779835043
322 A>V No ClinGen
TOPMed
gnomAD
CA371292395
rs1245630081
324 Q>* No ClinGen
gnomAD
CA4756693
rs773812952
324 Q>R No ClinGen
ExAC
gnomAD
CA371292375
rs1282082517
327 S>G No ClinGen
TOPMed
gnomAD
COSM1202904
CA371292376
rs1282082517
327 S>R large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs781679073
CA4756690
328 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA177299673
rs143476559
330 G>D No ClinGen
ESP
TOPMed
rs1199690733
CA371292353
RCV000592220
330 G>S No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA4756688
rs201041588
332 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs755365230
CA4756689
332 P>S No ClinGen
ExAC
gnomAD
rs1490754779
CA371292331
333 I>M No ClinGen
gnomAD
CA4756687
rs374601769
335 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371292300
rs1311330677
338 A>T No ClinGen
gnomAD
CA4756685
rs758465037
342 D>A No ClinGen
ExAC
gnomAD
TCGA novel 344 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765352511
CA4756683
344 P>T No ClinGen
ExAC
gnomAD
rs756035111
CA4756682
COSM1489354
346 L>F breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA4756681
VAR_018377
rs8192875
347 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1272194471
CA371292093
349 I>K No ClinGen
gnomAD
rs746150781
CA4756662
350 I>V No ClinGen
ExAC
gnomAD
CA4756661
rs778961537
COSM3699121
353 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778961537
CA371292063
353 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1351320462
CA371292048
356 L>F No ClinGen
gnomAD
CA177297688
rs908982662
357 S>P No ClinGen
Ensembl
rs767461666
CA4756658
358 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA371292034
rs1440463845
358 S>R No ClinGen
gnomAD
CA371292030
rs1335606150
359 A>S No ClinGen
gnomAD
rs1414467556
CA371292024
360 S>P No ClinGen
gnomAD
CA371292018
rs1324634115
361 L>F No ClinGen
TOPMed
gnomAD
CA371292019
rs1324634115
361 L>V No ClinGen
TOPMed
gnomAD
rs149291486
CA4756656
364 R>W Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1168837944
CA371291985
366 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1399961344
CA371291983
367 K>E No ClinGen
TOPMed
rs138607943
CA4756654
367 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4756653
rs369328699
369 D>E No ClinGen
ESP
ExAC
gnomAD
TCGA novel 369 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4756652
rs761420413
CA4756651
373 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1232031956
CA371291932
374 L>H No ClinGen
TOPMed
gnomAD
rs1232031956
CA371291931
374 L>P No ClinGen
TOPMed
gnomAD
CA4756650
rs777238502
376 D>N No ClinGen
ExAC
gnomAD
RCV000597302
CA4756649
rs117423932
377 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA371291885
rs1363692933
381 I>L No ClinGen
TOPMed
CA4756648
rs761294119
381 I>S No ClinGen
ExAC
gnomAD
CA4756647
rs775707649
382 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs772557610
COSM280280
CA4756646
382 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746027683
CA4756645
386 I>F No ClinGen
ExAC
gnomAD
CA4756643
rs770946033
387 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs779124979
CA4756644
387 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs749397517
CA4756642
388 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4756640
rs754847133
390 Y>H No ClinGen
ExAC
gnomAD
rs779707560
CA4756638
392 Q>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779707560
CA4756639
392 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA4756636
CA371291800
rs750037867
394 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1160670347
CA371291805
394 M>V No ClinGen
gnomAD
CA371291798
rs1184962029
COSM1552972
395 H>N lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1406825308
CA371291787
396 L>S No ClinGen
gnomAD
CA4756634
RCV000886346
RCV000368943
rs142708991
398 P>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs142708991
CA4756635
398 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA177297617
rs1012727318
399 E>G No ClinGen
Ensembl
rs1455455573
CA371291745
402 P>L No ClinGen
gnomAD
CA177297614
rs779251933
402 P>T No ClinGen
TOPMed
CA371291739
rs1251060298
403 D>V No ClinGen
gnomAD
CA371291735
rs1192994825
404 P>A No ClinGen
TOPMed
gnomAD
rs1192994825
CA371291736
404 P>S Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs761084132
CA4756631
405 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4756632
rs372341079
405 L>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4756600
rs745860537
406 T>I No ClinGen
ExAC
gnomAD
TCGA novel 406 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745860537
CA371291710
406 T>S No ClinGen
ExAC
gnomAD
rs1470643026
CA371291703
407 F>L No ClinGen
gnomAD
CA371291707
rs1326349852
407 F>V No ClinGen
TOPMed
rs1231634282
CA371291682
410 D>G No ClinGen
TOPMed
CA4756598
rs757124756
410 D>H No ClinGen
ExAC
gnomAD
CA371291665
rs777507940
412 Y>* No ClinGen
ExAC
gnomAD
CA371291670
rs1157876121
412 Y>H No ClinGen
gnomAD
rs766284289
RCV000727683
413 L>missing No ClinVar
dbSNP
rs546561123
CA4756594
416 N>D No ClinGen
ExAC
gnomAD
CA371291632
rs1273228573
417 G>E No ClinGen
gnomAD
rs201787113
CA4756592
417 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 419 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371291617
rs752124663
419 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA4756588
rs752124663
419 T>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 420 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773258821
CA4756585
422 T>I No ClinGen
ExAC
gnomAD
CA177297334
rs1027036041
424 Y>C No ClinGen
TOPMed
gnomAD
CA371291576
rs752679173
425 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs1585640698
CA371291581
425 C>R No ClinGen
Ensembl
CA371291567
rs776760317
426 N>K No ClinGen
ExAC
gnomAD
rs768925733
CA4756581
428 L>F No ClinGen
ExAC
gnomAD
CA4756580
rs376754937
429 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370236722
CA4756577
431 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151122002
CA4756578
RCV000338273
431 K>R No ClinGen
ClinVar
1000Genomes
TOPMed
dbSNP
gnomAD
rs1421122064
CA371291523
433 Y>C No ClinGen
gnomAD
TCGA novel 433 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA177297313
rs899918229
434 Y>* No ClinGen
TOPMed
rs777464708
CA4756574
434 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs777464708
CA4756575
434 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs770804582
CA4756576
434 Y>H No ClinGen
ExAC
gnomAD
rs201341987
CA4756573
435 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1255495349
COSM1100714
CA371291514
435 M>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA4756572
rs747810583
437 F>L No ClinGen
ExAC
gnomAD
rs780673203
CA4756571
439 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1585640654
CA371291488
439 S>T No ClinGen
Ensembl
rs367898327
CA371291479
440 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3735320
rs367898327
CA4756569
440 G>E skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs878898857
CA177297293
442 T>A No ClinGen
Ensembl
TCGA novel 442 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs552280210
CA4756568
443 I>L No ClinGen
1000Genomes
ExAC
gnomAD
rs552280210
CA4756567
443 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1216751891
CA371291461
444 C>R No ClinGen
TOPMed
gnomAD
rs750778526
CA4756566
445 P>L No ClinGen
ExAC
gnomAD
rs1327924474
CA371291449
446 G>R No ClinGen
gnomAD
CA4756564
rs762092457
447 R>S No ClinGen
ExAC
gnomAD
rs764215156
CA4756562
448 L>F No ClinGen
ExAC
gnomAD
CA4756563
rs754119848
448 L>W No ClinGen
ExAC
rs1319004357
CA371291432
449 F>I No ClinGen
TOPMed
gnomAD
rs770873945
CA4756561
450 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA4756559
rs770873945
450 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs770873945
CA4756560
450 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4756558
rs199557345
450 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs976831279
CA371291422
451 I>L No ClinGen
TOPMed
gnomAD
rs976831279
CA177297264
451 I>V No ClinGen
TOPMed
gnomAD
CA371291406
rs769540638
453 E>A No ClinGen
ExAC
gnomAD
CA4756556
rs769540638
453 E>G No ClinGen
ExAC
gnomAD
RCV000305369
rs755342899
CA4756557
453 E>K No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1468435777
CA371291397
454 I>S No ClinGen
gnomAD
rs1265969053
CA371291387
456 Q>E No ClinGen
gnomAD
rs747766938
CA4756555
458 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 459 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs891054570
CA177297250
459 I>N No ClinGen
TOPMed
gnomAD
rs768104199
CA4756553
CA371291348
461 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA371291350
rs1554558012
RCV000592678
461 M>T No ClinGen
ClinVar
Ensembl
dbSNP
rs779580378
CA4756552
462 L>F No ClinGen
ExAC
gnomAD
CA4756551
rs779580378
RCV000592851
462 L>V No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1293307020
CA371291335
464 Y>H No ClinGen
TOPMed
TCGA novel 468 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM751111
rs1306463275
CA371291291
470 I>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA4756548
RCV000728754
rs779269724
470 I>T No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA4756546
rs754062589
472 G>S No ClinGen
ExAC
gnomAD
CA371291263
rs1172165463
474 A>P No ClinGen
TOPMed
gnomAD
rs764439951
CA4756545
474 A>V No ClinGen
ExAC
gnomAD
rs1374163646
CA371291255
475 K>R No ClinGen
TOPMed
gnomAD
rs1018328362
CA177297199
477 P>S No ClinGen
Ensembl
CA4756544
rs761014779
480 D>E No ClinGen
ExAC
gnomAD
CA4756543
rs148119788
481 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148119788
CA371291218
481 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4756541
rs201171633
483 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4756540
rs201171633
483 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4756539
rs201171633
483 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1202903
rs143725488
RCV000731822
CA4756542
483 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs761620465
CA4756538
484 A>V No ClinGen
ExAC
gnomAD
CA371291182
rs1563482013
487 G>D No ClinGen
Ensembl
rs776227029
CA4756537
487 G>S No ClinGen
ExAC
gnomAD
CA371291175
rs1229694535
488 I>T No ClinGen
TOPMed
gnomAD
CA4756535
rs148977608
490 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148977608
CA4756536
490 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371291159
rs1415550085
491 P>S No ClinGen
gnomAD
rs746326323
CA4756532
493 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1311386037
CA371291136
494 D>V No ClinGen
gnomAD
CA371291128
rs757599711
495 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs779307775
CA4756531
495 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1170211276
CA371291118
497 F>L No ClinGen
gnomAD
rs749635200
CA4756529
498 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA371291110
rs1355414870
498 K>Q No ClinGen
TOPMed
rs1192340088
CA371291068
503 H>R No ClinGen
gnomAD

No associated diseases with P22680

1 regional properties for P22680

Type Name Position InterPro Accession
conserved_site Cytochrome P450, conserved site 437 - 446 IPR017972

Functions

Description
EC Number 1.14.14.23 With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
Subcellular Localization
  • Endoplasmic reticulum membrane ; Single-pass membrane protein
  • Microsome membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.

5 GO annotations of molecular function

Name Definition
24-hydroxycholesterol 7alpha-hydroxylase activity Catalysis of the reaction: (24S)-hydroxycholesterol + O2 + reduced = (24S)-7alpha-dihydroxycholesterol + H+ + H2O + oxidized
cholesterol 7-alpha-monooxygenase activity Catalysis of the reaction: cholesterol + NADPH + H+ + O2 = 7-alpha-hydroxycholesterol + NADP+ + H2O.
heme binding Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
iron ion binding Binding to an iron (Fe) ion.
steroid hydroxylase activity Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2.

14 GO annotations of biological process

Name Definition
bile acid and bile salt transport The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
bile acid biosynthetic process The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile.
bile acid signaling pathway The series of molecular signals initiated by bile acid binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
cellular response to cholesterol Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus.
cellular response to glucose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
cholesterol catabolic process The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
cholesterol homeostasis Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.
negative regulation of collagen biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals.
negative regulation of fatty acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids.
positive regulation of cholesterol biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.
regulation of bile acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
response to ethanol 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 an ethanol stimulus.
sterol metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P18125 Cyp7a1 Cytochrome P450 7A1 Rattus norvegicus (Rat) PR
Q9SAA9 CYP51G1 Sterol 14-demethylase Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MMTTSLIWGI AIAACCCLWL ILGIRRRQTG EPPLENGLIP YLGCALQFGA NPLEFLRANQ
70 80 90 100 110 120
RKHGHVFTCK LMGKYVHFIT NPLSYHKVLC HGKYFDWKKF HFATSAKAFG HRSIDPMDGN
130 140 150 160 170 180
TTENINDTFI KTLQGHALNS LTESMMENLQ RIMRPPVSSN SKTAAWVTEG MYSFCYRVMF
190 200 210 220 230 240
EAGYLTIFGR DLTRRDTQKA HILNNLDNFK QFDKVFPALV AGLPIHMFRT AHNAREKLAE
250 260 270 280 290 300
SLRHENLQKR ESISELISLR MFLNDTLSTF DDLEKAKTHL VVLWASQANT IPATFWSLFQ
310 320 330 340 350 360
MIRNPEAMKA ATEEVKRTLE NAGQKVSLEG NPICLSQAEL NDLPVLDSII KESLRLSSAS
370 380 390 400 410 420
LNIRTAKEDF TLHLEDGSYN IRKDDIIALY PQLMHLDPEI YPDPLTFKYD RYLDENGKTK
430 440 450 460 470 480
TTFYCNGLKL KYYYMPFGSG ATICPGRLFA IHEIKQFLIL MLSYFELELI EGQAKCPPLD
490 500
QSRAGLGILP PLNDIEFKYK FKHL