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

1 structures for O15120

Entry ID Method Resolution Chain Position Source
AF-O15120-F1 Predicted AlphaFoldDB

328 variants for O15120

Variant ID(s) Position Change Description Diseaes Association Provenance
rs886063723
RCV000399921
1 M>missing Congenital generalized lipodystrophy [ClinVar] Yes ClinVar
dbSNP
CA375588437
RCV001174398
rs1284278396
10 A>G Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000249797
RCV000346337
RCV001651194
rs745429291
17 L>missing Congenital generalized lipodystrophy [ClinVar] Yes ClinVar
dbSNP
CA16042197
rs1057517651
RCV000412547
65 W>* Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000445545
CA5343113
rs563539429
RCV001169548
RCV001865409
67 V>M Monogenic diabetes Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs104894093
RCV001701561
CA277942
RCV000007003
68 R>* Variant assessed as Somatic; 0.0 impact. Congenital generalized lipodystrophy type 1 [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs140995132
RCV002530621
RCV002485514
RCV000664131
CA5343109
70 F>V Monogenic diabetes Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000116251
rs151053652
CA230857
RCV002483193
77 R>C Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002558770
rs375796317
RCV002497607
CA5343102
RCV001174397
77 R>H Monogenic diabetes Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs193920848
RCV000149182
83 P>missing Malignant tumor of prostate [ClinVar] Yes ClinVar
dbSNP
RCV001169547
rs142176861
RCV000277912
CA5343091
90 R>H Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000664130
CA375583730
rs1554754454
92 C>R Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
COSM1461207
CA5343086
rs764260414
RCV000412496
100 S>N Variant assessed as Somatic; 0.0 impact. large_intestine Congenital generalized lipodystrophy type 1 [NCI-TCGA, Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
CA5343082
RCV000418715
rs746809573
RCV000389300
105 M>I Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1588263957
RCV001819690
RCV000985088
112 P>missing Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinVar
dbSNP
RCV000412550
rs886063722
CA10633299
112 P>L Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000969569
RCV000445461
CA5343042
rs142145391
114 R>C Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002467800
CA5343037
rs114782902
RCV000445386
120 K>R Monogenic diabetes Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001167655
CA5343036
rs369878933
121 R>G Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs387906355
RCV000007005
128 P>missing Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinVar
dbSNP
rs537737741
RCV001167654
CA5343024
133 M>V Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA278000
RCV000193026
VAR_017328
rs797045222
136 G>R Congenital generalized lipodystrophy type 1 CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
rs372935354
CA5343014
RCV001167653
139 F>V Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs387906356
RCV000007007
140 F>missing Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinVar
dbSNP
VAR_017326 140 F>del CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity [UniProt] Yes UniProt
rs1230993149
RCV001174393
RCV002558769
CA375581980
152 V>A Monogenic diabetes Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA5342999
RCV003163384
rs150530734
RCV003106137
RCV001174396
154 A>D Monogenic diabetes Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000445508
RCV000883942
rs142993240
RCV001167076
RCV000193694
CA207355
COSM4163570
159 R>C thyroid Monogenic diabetes Congenital generalized lipodystrophy type 1 [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000354825
rs374919945
CA5342995
159 R>L Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA16043672
RCV000414972
rs1057518714
168 W>* Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1564290914
RCV000754914
172 E>missing Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinVar
dbSNP
CA5342949
rs748157664
RCV000412645
RCV000494007
172 E>K Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1057517653
RCV000412491
180 D>missing Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinVar
dbSNP
CA277952
RCV000007010
rs121908926
190 Y>* Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA5342909
rs372408400
RCV000358360
202 V>M Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000754915
rs1564290079
208 S>missing Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinVar
dbSNP
CA5342897
rs142248792
RCV000445463
RCV000909273
RCV002467799
214 K>E Monogenic diabetes Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA277949
rs121908925
RCV000007008
215 K>* Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000412630
rs138994150
CA5342894
RCV000880987
216 K>* Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5342893
RCV001167074
RCV001397951
rs143244920
RCV002557435
216 K>M Congenital generalized lipodystrophy type 1 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA16042193
RCV000412578
rs1057517655
226 Q>* Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs104894100
RCV000007006
CA277946
VAR_017327
228 L>P Congenital generalized lipodystrophy type 1 CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA375577599
RCV000788112
rs536777709
233 T>N Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
RCV000412633
CA5342848
rs200656731
238 A>G Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000594308
RCV001165478
rs145975461
VAR_017325
RCV002062081
CA5342845
239 A>V Congenital generalized lipodystrophy type 1 CGL1; 90% of wild-type 1-acyl-sn-glycerol-3-phosphate acyltransferase activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5342829
rs368090654
RCV001165476
RCV002558606
250 R>Q Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5342830
RCV000390096
rs767338891
250 R>W Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000412504
rs1057517656
252 M>missing Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinVar
dbSNP
CA5342816
RCV001169501
rs17848858
RCV002557465
263 P>L Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs142417583
CA5342808
RCV000445394
RCV000965123
RCV001169500
270 A>V Monogenic diabetes Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5342803
rs368902934
RCV000292158
274 V>M Congenital generalized lipodystrophy type 1 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA375588548
rs1364637147
2 E>G No ClinGen
TOPMed
gnomAD
rs1364637147
CA375588550
2 E>V No ClinGen
TOPMed
gnomAD
rs1588270266
CA375588512
4 W>* No ClinGen
Ensembl
CA201641542
rs567515545
5 P>L No ClinGen
1000Genomes
CA5343190
rs772720511
5 P>S No ClinGen
ExAC
gnomAD
CA375588495
rs1278572636
6 C>R No ClinGen
gnomAD
rs774927104
CA5343188
7 L>P No ClinGen
ExAC
gnomAD
rs769132436
CA5343187
8 A>P No ClinGen
ExAC
gnomAD
CA201641519
rs550860290
11 L>P No ClinGen
1000Genomes
gnomAD
rs550860290
CA375588425
11 L>R No ClinGen
1000Genomes
gnomAD
rs1403374054
CA375588388
13 L>F No ClinGen
TOPMed
RCV000722635
rs745429291
16 L>missing No ClinVar
dbSNP
CA375588353
rs1156772737
17 L>V No ClinGen
gnomAD
rs745978420
CA5343183
17 L>R No ClinGen
ExAC
gnomAD
rs1188776097
CA375588337
18 V>A No ClinGen
TOPMed
gnomAD
rs1188776097
CA375588335
18 V>G No ClinGen
TOPMed
gnomAD
rs758336307
CA5343181
18 V>L No ClinGen
ExAC
rs1564296483
CA375588332
19 Q>E No ClinGen
Ensembl
CA201641461
rs974068780
21 S>N No ClinGen
Ensembl
rs765072538
CA5343175
22 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA375588297
rs765072538
22 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1486389980
CA375588294
22 R>H No ClinGen
gnomAD
rs1260518080
CA375588281
23 A>V No ClinGen
TOPMed
gnomAD
CA5343174
rs530668813
24 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1024066065
CA201641456
24 A>V No ClinGen
gnomAD
rs1273212998
CA375588267
25 E>K No ClinGen
gnomAD
CA5343172
rs766080263
29 K>E No ClinGen
ExAC
gnomAD
rs1382453793
CA375588187
29 K>M No ClinGen
TOPMed
gnomAD
rs1382453793
CA375588189
29 K>R No ClinGen
TOPMed
gnomAD
CA375588191
rs1382453793
29 K>T No ClinGen
TOPMed
gnomAD
rs1360933401
CA375588177
30 V>I No ClinGen
gnomAD
rs1012305332
CA201641451
31 A>S No ClinGen
gnomAD
CA375588157
rs1438463501
31 A>V No ClinGen
gnomAD
CA375588129
rs1460980367
34 C>G No ClinGen
gnomAD
CA5343170
rs138811198
35 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375588109
rs1205915727
35 A>V No ClinGen
TOPMed
gnomAD
CA375588104
COSM1132546
rs1173020252
36 L>Q Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs767135270
CA5343169
37 C>* No ClinGen
ExAC
gnomAD
CA375588076
rs1588270124
38 F>S No ClinGen
Ensembl
rs762472184
CA5343168
39 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs972288593
CA201641437
40 V>A No ClinGen
TOPMed
gnomAD
rs1254174891
CA375588032
42 A>T No ClinGen
TOPMed
gnomAD
rs1213688450
CA375588027
42 A>V No ClinGen
gnomAD
rs375485327
CA5343166
45 S>L No ClinGen
ExAC
gnomAD
CA375587994
rs1227650315
46 L>F No ClinGen
gnomAD
CA5343165
rs749691219
46 L>P No ClinGen
ExAC
gnomAD
CA375587985
rs1220709454
47 V>I No ClinGen
gnomAD
CA5343161
rs559044334
51 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5343159
rs748131425
52 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5343160
rs757315738
52 H>R No ClinGen
ExAC
gnomAD
CA5343158
rs778789592
53 G>S No ClinGen
ExAC
gnomAD
rs754824584
CA5343157
54 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs754824584
CA375587899
54 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA375587891
rs1193488029
55 R>Q No ClinGen
gnomAD
rs1239418038
CA375587868
57 V>E No ClinGen
gnomAD
CA201641408
rs999677156
57 V>M No ClinGen
Ensembl
CA5343154
rs755862737
58 E>G No ClinGen
ExAC
gnomAD
rs761378691
CA5343152
60 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA5343151
rs761378691
60 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs761378691
CA375587831
60 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA5343153
rs750090730
60 M>V No ClinGen
ExAC
gnomAD
CA375584171
rs772032254
62 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs772032254
CA5343121
62 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs773409087
CA5343122
62 I>V No ClinGen
ExAC
gnomAD
rs150180733
CA5343119
63 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs545434931
CA5343120
63 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs781074178
CA5343116
64 G>D No ClinGen
ExAC
gnomAD
rs552941425
CA5343117
64 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781074178
CA375584162
64 G>V No ClinGen
ExAC
gnomAD
CA375584131
rs1416598711
66 F>S No ClinGen
gnomAD
CA5343115
rs756970061
66 F>V No ClinGen
ExAC
gnomAD
CA375584121
CA5343114
rs563539429
67 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5343112
rs753285203
68 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765693486
CA5343111
69 S>I No ClinGen
ExAC
gnomAD
CA5343110
rs140995132
70 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375584063
rs1214311068
71 K>R No ClinGen
TOPMed
gnomAD
CA5343107
rs760946018
72 Y>C No ClinGen
ExAC
gnomAD
CA5343108
rs766725928
72 Y>H No ClinGen
ExAC
gnomAD
rs773288073
CA5343106
73 F>L No ClinGen
ExAC
gnomAD
rs761832220
CA375584012
74 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs767679550
CA5343105
74 Y>D No ClinGen
ExAC
gnomAD
CA375584010
CA5343103
rs556809277
75 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA591184745
rs1328499448
76 L>R No ClinGen
gnomAD
CA5343101
rs543374987
78 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5343099
rs746723029
79 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 81 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375583926
rs1167031646
81 R>Q No ClinGen
gnomAD
CA5343098
rs534706099
81 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758027160
CA5343097
82 D>E No ClinGen
ExAC
gnomAD
CA375583919
rs1474296766
82 D>N No ClinGen
gnomAD
rs1194107841
CA375583897
83 P>L No ClinGen
TOPMed
gnomAD
rs369342642
CA5343095
84 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5343094
rs755548321
84 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375583785
rs1421120588
89 A>S No ClinGen
gnomAD
COSM1182228
rs754330975
CA5343093
90 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs754330975
CA375583777
90 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5343092
rs142176861
90 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1176662324
CA375583744
91 P>R No ClinGen
TOPMed
gnomAD
rs997858799
CA201630564
92 C>S No ClinGen
TOPMed
gnomAD
CA5343089
rs767657638
93 V>A No ClinGen
ExAC
gnomAD
rs886043265
RCV000281033
94 I>missing No ClinVar
dbSNP
rs1415497065
CA375583578
95 V>I No ClinGen
TOPMed
rs1301941606
CA375583518
96 S>C No ClinGen
gnomAD
CA201630554
rs994062536
99 Q>H No ClinGen
Ensembl
rs1354671151
CA375583402
100 S>G No ClinGen
TOPMed
gnomAD
CA5343084
rs776686392
103 D>G No ClinGen
ExAC
gnomAD
rs770888755
CA5343083
104 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA375583218
rs1349711728
106 G>C No ClinGen
TOPMed
CA375582959
rs1455703917
108 M>T No ClinGen
TOPMed
gnomAD
CA5343045
rs765404852
110 V>F No ClinGen
ExAC
gnomAD
rs1268021829
CA375582891
111 L>I No ClinGen
TOPMed
CA375582883
rs1463201340
111 L>P No ClinGen
TOPMed
CA5343043
rs750354844
113 E>V No ClinGen
ExAC
gnomAD
CA5343041
rs746314526
COSM1461206
114 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375582817
rs1242036472
115 C>R No ClinGen
gnomAD
rs73668354
CA201630147
115 C>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371597242
CA5343039
116 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA201630131
rs1021163877
117 Q>E No ClinGen
TOPMed
gnomAD
CA201630127
rs933473488
117 Q>P No ClinGen
TOPMed
CA375582728
rs1297327095
119 A>G No ClinGen
gnomAD
rs1319531981
CA375582740
119 A>T No ClinGen
gnomAD
CA375582700
rs1295243261
121 R>Q No ClinGen
gnomAD
CA5343035
COSM1182227
rs369878933
121 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
RCV000428956
rs1057522706
CA16605653
122 E>A No ClinGen
ClinVar
dbSNP
gnomAD
rs1443022263
CA375582686
122 E>Q No ClinGen
TOPMed
gnomAD
CA5343032
rs747398697
126 L>P No ClinGen
ExAC
gnomAD
CA375582555
rs1419266272
127 G>E No ClinGen
gnomAD
rs758697932
CA5343031
127 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs758697932
CA5343030
127 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs755055909
CA5343027
129 V>A No ClinGen
ExAC
gnomAD
rs778908749
CA5343028
129 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA375582480
rs1564291266
130 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5343026
rs753822306
132 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA5343025
rs551034811
132 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1487258258
CA375582435
132 I>T No ClinGen
gnomAD
CA5343023
rs751365084
133 M>T No ClinGen
ExAC
gnomAD
CA375582397
rs1588263792
134 Y>S No ClinGen
Ensembl
CA375582383
rs1343663871
135 L>F No ClinGen
TOPMed
rs775097208
CA5343020
136 G>E No ClinGen
ExAC
gnomAD
CA5343018
rs759115310
137 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA201629968
rs759115310
137 G>V No ClinGen
ExAC
gnomAD
CA5343016
rs771482666
138 V>I No ClinGen
ExAC
TOPMed
rs1181209658 138 V>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs773771905
CA5343013
140 F>I No ClinGen
ExAC
gnomAD
rs200664359
CA201629941
141 I>M No ClinGen
1000Genomes
rs748422913
CA5343012
142 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs748422913
CA5343011
142 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA5343009
rs749401965
143 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5343008
rs749401965
143 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5343010
rs779228870
143 R>W No ClinGen
ExAC
gnomAD
rs1564291192
CA375582176
144 Q>P No ClinGen
Ensembl
rs55755415
CA5343006
145 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5343005
rs200070319
145 R>H No ClinGen
ESP
ExAC
gnomAD
rs55755415
CA201629915
145 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1252060863
CA375582126
146 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1371561893
CA375582135
146 S>P No ClinGen
TOPMed
CA5343003
rs758156274
147 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA5343004
rs758156274
147 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs752391395
CA5343002
147 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs764964329
CA5343001
148 T>I No ClinGen
ExAC
gnomAD
rs759050377
CA5343000
149 A>T No ClinGen
ExAC
gnomAD
CA375582008
rs1348403217
151 T>A No ClinGen
gnomAD
rs150530734
CA201629877
154 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5342997
rs747413162
155 D>N No ClinGen
ExAC
gnomAD
rs1249417092
CA375581886
156 L>V No ClinGen
TOPMed
CA201629850
rs367594835
157 G>C No ClinGen
ESP
TOPMed
gnomAD
CA375581831
rs1588263624
158 E>G No ClinGen
Ensembl
CA375581839
rs1266548148
158 E>K No ClinGen
TOPMed
rs374919945
CA5342994
159 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749471921
CA5342992
160 M>I No ClinGen
ExAC
gnomAD
CA5342993
rs577846814
160 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA5342990
rs564197398
162 R>T No ClinGen
1000Genomes
ExAC
gnomAD
CA201629800
rs200183102
163 E>K No ClinGen
1000Genomes
CA201629794
rs1048261547
164 N>K No ClinGen
TOPMed
gnomAD
CA375581485
rs1289409198
166 K>E No ClinGen
gnomAD
rs541978825
CA5342954
167 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA5342952
rs759686675
170 Y>C No ClinGen
ExAC
gnomAD
CA375581316
rs1252287949
171 P>S No ClinGen
gnomAD
CA375581294
rs748157664
172 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs1440988878
CA375581278
173 G>S No ClinGen
TOPMed
gnomAD
CA5342948
rs774187550
175 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA375581223
rs1350421406
176 N>D No ClinGen
TOPMed
CA5342946
rs749052076
177 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs779132574
CA201629338
178 N>S No ClinGen
TOPMed
gnomAD
CA375581086
rs1298569587
180 D>E No ClinGen
TOPMed
CA5342945
rs373343259
180 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 184 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 185 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375580941
rs1198278973
186 K>E No ClinGen
gnomAD
CA375580933
rs1564290861
RCV000722740
186 K>T No ClinGen
ClinVar
Ensembl
dbSNP
CA201629300
rs917659244
188 A>D No ClinGen
TOPMed
gnomAD
CA5342940
rs751036761
188 A>T No ClinGen
ExAC
gnomAD
rs917659244
CA201629299
188 A>V No ClinGen
TOPMed
gnomAD
CA375580797
rs1340565783
192 A>V No ClinGen
gnomAD
CA375580789
rs1036718579
193 V>F No ClinGen
TOPMed
rs1036718579
CA201629262
193 V>I No ClinGen
TOPMed
rs1283019657
CA375580767
194 Q>* No ClinGen
TOPMed
gnomAD
CA201629258
rs373943261
195 A>G No ClinGen
Ensembl
TCGA novel 195 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs17855341
CA201627695
200 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs17855341
CA375578889
200 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5342912
rs17855341
200 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs372408400
CA375578753
202 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5342908
rs776425895
204 Y>C No ClinGen
ExAC
gnomAD
CA5342906
rs746667575
206 S>F No ClinGen
ExAC
gnomAD
CA201627675
rs897305145
208 S>F No ClinGen
TOPMed
gnomAD
CA5342904
rs771547310
208 S>P No ClinGen
ExAC
TOPMed
rs748693822
CA5342903
209 S>Y No ClinGen
ExAC
gnomAD
rs377267603
CA5342902
210 F>S No ClinGen
ESP
ExAC
TOPMed
TCGA novel 212 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754208307
CA5342899
212 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA5342898
rs780464197
213 T>I No ClinGen
ExAC
gnomAD
CA5342895
rs767537103
215 K>N No ClinGen
ExAC
gnomAD
rs1237838088
CA375578166
219 T>A No ClinGen
TOPMed
rs1412078301
CA375578150
219 T>I No ClinGen
gnomAD
CA375577816
rs1381301615
221 G>A No ClinGen
gnomAD
CA375577775
rs1588261109
223 V>A No ClinGen
Ensembl
CA375577791
rs200073215
223 V>I No ClinGen
1000Genomes
gnomAD
CA201626941
rs200073215
223 V>L No ClinGen
1000Genomes
gnomAD
CA201626932
rs765479536
224 T>R No ClinGen
Ensembl
rs557103117
CA5342857
225 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA5342854
rs757623351
227 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA375577680
rs1255380257
229 E>K No ClinGen
gnomAD
CA5342853
rs747223219
231 I>T No ClinGen
ExAC
gnomAD
rs536777709
CA5342852
233 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs138232867
CA5342851
235 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766362929
CA5342850
236 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 237 T>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5342847
COSM238729
rs200656731
238 A>V Variant assessed as Somatic; 5.107e-05 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375577479
rs145975461
239 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762542535
CA5342843
240 D>A No ClinGen
ExAC
rs11545228
CA201626880
241 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs11545228
CA5342841
241 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5342840
rs11545228
241 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 241 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777195971
CA5342839
242 P>A No ClinGen
ExAC
gnomAD
rs553740204
CA5342837
243 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs553740204
CA5342838
243 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778853584
CA375577369
245 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5342833
rs778853584
245 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs958545912
CA201626858
247 T>I No ClinGen
TOPMed
gnomAD
rs1588260954
CA375577346
247 T>P No ClinGen
Ensembl
CA375577332
rs1588260943
248 C>G No ClinGen
Ensembl
CA375577314
rs1588260926
249 H>P No ClinGen
Ensembl
CA201626841
rs1003229436
249 H>Y No ClinGen
Ensembl
rs1328715652
CA375577294
251 A>T No ClinGen
gnomAD
CA375577279
rs1359921826
252 M>I No ClinGen
TOPMed
RCV000722649
CA375577283
rs1247427045
252 M>T No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA5342828
rs751303704
252 M>V No ClinGen
ExAC
gnomAD
rs763816384
CA5342827
253 R>K No ClinGen
ExAC
gnomAD
CA5342826
rs147616533
254 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA201626821
rs147616533
254 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA201626811
rs141456385
255 T>I No ClinGen
ESP
gnomAD
rs764643486
CA5342824
256 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1320609779
CA375577243
256 F>L No ClinGen
gnomAD
rs1164691436
CA375577217
258 H>R No ClinGen
gnomAD
CA201626809
rs1011578726
259 I>T No ClinGen
TOPMed
gnomAD
rs760141111
CA5342823
260 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5342822
rs777248850
261 K>E No ClinGen
ExAC
gnomAD
rs530977763
CA5342821
261 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs773653710
CA5342819
262 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA5342814
rs373878123
264 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375577108
rs370809970
266 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751365063
CA5342811
267 G>R No ClinGen
ExAC
gnomAD
rs1362416121
CA375577090
268 A>S No ClinGen
gnomAD
rs528513856
CA5342809
268 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1387024488
CA375577074
269 T>I No ClinGen
gnomAD
rs1387024488
CA375577077
269 T>N No ClinGen
gnomAD
CA375577060
rs1390698959
271 G>E No ClinGen
gnomAD
CA201623549
rs1051343001
272 S>C No ClinGen
Ensembl
rs753350881
CA5342805
273 G>A No ClinGen
ExAC
gnomAD
CA375576125
rs1588260774
273 G>S No ClinGen
Ensembl
CA375576114
rs368902934
274 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375576098
rs1452388592
275 Q>P No ClinGen
TOPMed
gnomAD
CA375576097
rs1452388592
275 Q>R No ClinGen
TOPMed
gnomAD
CA5342802
rs773769888
276 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA375576069
rs1344825112
277 A>V No ClinGen
TOPMed
gnomAD

1 associated diseases with O15120

[MIM: 608594]: Congenital generalized lipodystrophy 1 (CGL1)

An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:11967537, ECO:0000269|PubMed:15629135}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:11967537, ECO:0000269|PubMed:15629135}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O15120

Type Name Position InterPro Accession
domain Phospholipid/glycerol acyltransferase 78 - 207 IPR002123
domain 1-acyl-sn-glycerol-3-phosphate acyltransferase 75 - 204 IPR004552

Functions

Description
EC Number 2.3.1.51 Transferring groups other than amino-acyl groups
Subcellular Localization
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
specific granule membrane The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

1 GO annotations of molecular function

Name Definition
1-acylglycerol-3-phosphate O-acyltransferase activity Catalysis of the reaction: acyl-CoA + 1-acyl-sn-glycerol-3-phosphate = CoA + 1,2-diacyl-sn-glycerol-3-phosphate.

7 GO annotations of biological process

Name Definition
CDP-diacylglycerol biosynthetic process The chemical reactions and pathways resulting in the formation of CDP-diacylglycerol, CDP-1,2-diacylglycerol, a substance composed of diacylglycerol in glycosidic linkage with cytidine diphosphate.
epidermis development The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.
phosphatidic acid biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids.
phospholipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester.
positive regulation of cytokine production Any process that activates or increases the frequency, rate or extent of production of a cytokine.
positive regulation of cytokine-mediated signaling pathway Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway.
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.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P33333 SLC1 1-acyl-sn-glycerol-3-phosphate acyltransferase Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q95JH2 AGPAT1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha Bos taurus (Bovine) PR
Q99943 AGPAT1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha Homo sapiens (Human) PR
Q8K3K7 Agpat2 1-acyl-sn-glycerol-3-phosphate acyltransferase beta Mus musculus (Mouse) PR
Q9LLY4 BAT2 1-acyl-sn-glycerol-3-phosphate acyltransferase BAT2, chloroplastic Brassica napus (Rape) PR
Q8GXU8 LPAT1 1-acyl-sn-glycerol-3-phosphate acyltransferase LPAT1, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MELWPCLAAA LLLLLLLVQL SRAAEFYAKV ALYCALCFTV SAVASLVCLL RHGGRTVENM
70 80 90 100 110 120
SIIGWFVRSF KYFYGLRFEV RDPRRLQEAR PCVIVSNHQS ILDMMGLMEV LPERCVQIAK
130 140 150 160 170 180
RELLFLGPVG LIMYLGGVFF INRQRSSTAM TVMADLGERM VRENLKVWIY PEGTRNDNGD
190 200 210 220 230 240
LLPFKKGAFY LAVQAQVPIV PVVYSSFSSF YNTKKKFFTS GTVTVQVLEA IPTSGLTAAD
250 260 270
VPALVDTCHR AMRTTFLHIS KTPQENGATA GSGVQPAQ