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

27 structures for P09601

Entry ID Method Resolution Chain Position Source
1N3U X-ray 258 A A/B 1-233 PDB
1N45 X-ray 150 A A/B 1-233 PDB
1NI6 X-ray 210 A A/B/C/D 1-224 PDB
1OYK X-ray 259 A A/B 1-233 PDB
1OYL X-ray 159 A A/B 1-233 PDB
1OZE X-ray 219 A A/B 1-233 PDB
1OZL X-ray 158 A A/B 1-233 PDB
1OZR X-ray 174 A A/B 1-233 PDB
1OZW X-ray 155 A A/B 1-233 PDB
1S13 X-ray 229 A A/B 1-233 PDB
1S8C X-ray 219 A A/B/C/D 1-233 PDB
1T5P X-ray 211 A A/B 1-233 PDB
1TWN X-ray 220 A A/B 1-233 PDB
1TWR X-ray 210 A A/B 1-233 PDB
1XJZ X-ray 188 A A/B 1-233 PDB
1XK0 X-ray 218 A A/B 1-233 PDB
1XK1 X-ray 208 A A/B 1-233 PDB
1XK2 X-ray 220 A A/B 1-233 PDB
1XK3 X-ray 208 A A/B 1-233 PDB
3CZY X-ray 154 A A/B 1-233 PDB
3HOK X-ray 219 A A/B 1-233 PDB
3K4F X-ray 217 A A/B 1-233 PDB
3TGM X-ray 285 A A/B 1-233 PDB
4WD4 X-ray 295 A A/B/C/D 1-288 PDB
5BTQ X-ray 208 A A/B 1-233 PDB
6EHA X-ray 200 A A/B 1-288 PDB
AF-P09601-F1 Predicted AlphaFoldDB

287 variants for P09601

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1391750606
CA411351042
2 E>A No ClinGen
gnomAD
CA323517558
rs932354596
3 R>G No ClinGen
gnomAD
rs1334211225
CA411351057
3 R>H No ClinGen
gnomAD
rs1238534765
CA411351068
4 P>L No ClinGen
gnomAD
rs1238534765
CA411351067
4 P>R No ClinGen
gnomAD
rs1350094270
CA411351097
6 P>L No ClinGen
gnomAD
CA411351092
rs1256686888
6 P>S No ClinGen
gnomAD
rs1483623337
CA411351111
CA411351113
7 D>E No ClinGen
gnomAD
CA10204586
VAR_019165
rs2071747
7 D>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1438904518
CA411351309
8 S>R No ClinGen
gnomAD
CA10204605
CA411351311
rs768435104
9 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA10204606
rs551161442
10 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs551161442
CA411351318
10 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1428247265
CA411351343
13 L>F No ClinGen
TOPMed
rs369762159
CA10204608
13 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411351362
rs1298040151
16 A>S No ClinGen
TOPMed
rs199554283
CA10204609
17 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA323518928
rs150399064
18 K>M No ClinGen
ESP
TOPMed
rs1601739478
RCV000997913
19 E>missing No ClinVar
dbSNP
CA411351394
rs1413931872
19 E>D No ClinGen
TOPMed
CA10204613
rs759034514
20 A>D No ClinGen
ExAC
gnomAD
rs765713465
CA10204612
20 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs765713465
CA10204611
20 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA411351425
rs1474577861
22 K>T No ClinGen
TOPMed
CA411351446
rs1262185822
23 E>D No ClinGen
TOPMed
rs1601739499
CA411351480
26 T>I No ClinGen
Ensembl
CA10204614
rs764534101
28 A>V No ClinGen
ExAC
gnomAD
CA10204615
rs77672261
29 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10204616
rs757462491
32 E>K No ClinGen
ExAC
gnomAD
rs1188261720
CA411351577
33 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1427779590
CA411351588
34 M>I No ClinGen
gnomAD
CA323518953
rs903490384
34 M>T No ClinGen
TOPMed
gnomAD
CA10204618
rs745903133
41 Q>H No ClinGen
ExAC
gnomAD
CA411351691
rs1460096543
41 Q>R No ClinGen
gnomAD
CA411351717
rs1274546571
43 T>I No ClinGen
TOPMed
CA10204619
rs756151512
44 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA10204620
rs149118304
44 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10204623
rs768627741
45 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA10204621
rs749208024
45 D>G No ClinGen
ExAC
gnomAD
CA10204624
rs747965867
46 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA10204625
rs367932474
47 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA10204626
rs772748655
48 K>R No ClinGen
ExAC
TOPMed
CA411352114
rs1601741349
50 V>G No ClinGen
Ensembl
CA411352109
rs1176147476
50 V>L No ClinGen
gnomAD
CA10204647
rs759140880
51 M>I No ClinGen
ExAC
gnomAD
rs1374172290
CA411352117
51 M>L No ClinGen
gnomAD
CA323521453
rs1055459409
51 M>T No ClinGen
Ensembl
rs963351011
CA323521458
52 A>V No ClinGen
TOPMed
CA411352143
rs1356598938
55 Y>C No ClinGen
gnomAD
rs565887386
CA10204648
56 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA323521466
rs762448489
58 Y>* No ClinGen
ExAC
gnomAD
rs775004553
CA10204649
58 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1184993008
CA411352162
58 Y>D No ClinGen
TOPMed
CA10204651
rs767759739
59 V>A No ClinGen
ExAC
gnomAD
rs1304906003
CA411352176
60 A>D No ClinGen
TOPMed
gnomAD
rs1304906003
CA411352178
60 A>V No ClinGen
TOPMed
gnomAD
rs1199760869
CA411352189
COSM281733
62 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA10204652
rs750846312
62 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA411352193
rs1262409403
63 E>* No ClinGen
TOPMed
rs1601741392
CA411352199
64 E>K No ClinGen
Ensembl
CA10204653
rs377208959
65 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10204654
rs766615761
67 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753863879
CA10204655
67 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10204656
rs200856037
68 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411352236
rs1292741154
69 K>R No ClinGen
TOPMed
rs778752673
CA10204657
70 E>G No ClinGen
ExAC
gnomAD
rs113683735
CA323521496
71 S>G No ClinGen
Ensembl
CA10204659
rs758414026
74 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA411352274
rs138680581
75 A>S No ClinGen
ESP
ExAC
TOPMed
CA10204661
rs138680581
75 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs574454960
CA10204662
75 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1032960920
CA323521513
COSM1033739
76 P>H Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA411352279
rs1447344275
76 P>S No ClinGen
gnomAD
rs369019087
CA10204664
78 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369019087
CA411352292
78 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411352289
rs1463003938
78 Y>H No ClinGen
TOPMed
rs536618397
CA411352302
79 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 81 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775196835
CA10204666
82 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 82 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10204668
rs772672081
83 L>V No ClinGen
ExAC
gnomAD
COSM1209826
CA10204669
rs141730669
85 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10204670
rs141730669
85 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766527808
CA10204671
85 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV001321298
rs766527808
85 R>L No ClinVar
dbSNP
TCGA novel
rs759817600
CA10204673
86 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
CA10204672
rs754059391
86 K>T No ClinGen
ExAC
gnomAD
rs1601741492
CA411352347
87 A>P No ClinGen
Ensembl
rs765282681
CA10204674
87 A>V No ClinGen
ExAC
gnomAD
CA10204676
rs146227657
88 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411352351
rs1242375329
88 A>P No ClinGen
TOPMed
rs942857305
CA323521606
90 E>G No ClinGen
TOPMed
CA411352362
rs1257822129
90 E>Q No ClinGen
TOPMed
gnomAD
rs921986454
CA323521608
COSM1415991
92 D>G large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
TCGA novel 92 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751257756
CA10204678
93 L>P No ClinGen
ExAC
gnomAD
CA10204679
rs757122732
94 A>P No ClinGen
ExAC
gnomAD
CA323521615
rs757122732
94 A>T No ClinGen
ExAC
gnomAD
CA411352393
rs1244331514
95 F>Y No ClinGen
gnomAD
CA10204681
rs137932222
96 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755879599
CA10204682
96 W>C No ClinGen
ExAC
gnomAD
rs748860646
CA10204684
98 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 99 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772407562
CA10204685
99 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs773781083
CA10204686
100 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10204687
rs747303322
100 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1297001551
CA411352444
103 E>K No ClinGen
TOPMed
CA10204689
rs141643776
105 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA323521681
VAR_022156
rs9282702
106 P>L No ClinGen
UniProt
Ensembl
dbSNP
rs765477403
CA10204691
107 Y>C No ClinGen
ExAC
gnomAD
CA323521694
rs902896454
107 Y>H No ClinGen
TOPMed
rs376132596
CA323521699
108 T>A No ClinGen
ESP
TOPMed
CA10204692
rs775386710
109 P>S No ClinGen
ExAC
gnomAD
CA10204693
rs763108705
110 A>P No ClinGen
ExAC
gnomAD
CA10204694
rs763872699
110 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs757322587
CA10204696
111 M>I No ClinGen
ExAC
gnomAD
CA411352493
rs1193526478
111 M>T No ClinGen
gnomAD
rs572321710
CA10204697
113 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs11555830
CA10204699
113 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs572321710
CA10204698
113 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779778162
CA10204700
115 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA10204702
rs373670270
117 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10204701
rs748685977
117 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA411352544
rs541298817
119 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10204705
rs113166818
120 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10204704
rs747498006
120 E>K No ClinGen
ExAC
gnomAD
CA411352556
rs1601741654
121 V>G No ClinGen
Ensembl
CA411352566
rs1239968647
COSM1033742
123 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs903006597
CA323521791
123 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA411352573
rs1304968056
124 T>I No ClinGen
TOPMed
rs200456582
CA10204708
124 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10204710
rs763151157
125 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10204709
rs775787073
125 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs774342824
COSM392953
CA10204712
127 E>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs774342824
CA411352586
127 E>Q No ClinGen
ExAC
gnomAD
CA411352604
rs1182041236
130 V>L No ClinGen
gnomAD
CA411352613
rs373577583
131 A>G No ClinGen
ESP
ExAC
gnomAD
rs373577583
CA10204713
131 A>V No ClinGen
ESP
ExAC
gnomAD
CA10204715
rs750192990
133 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411352636
rs760556663
135 T>A No ClinGen
ExAC
gnomAD
CA10204716
rs760556663
135 T>S No ClinGen
ExAC
gnomAD
rs765877829
CA10204717
135 T>S No ClinGen
ExAC
gnomAD
CA411352641
rs1300886472
136 R>C No ClinGen
TOPMed
gnomAD
rs201596112
CA10204718
136 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs778459375
CA10204720
138 L>V No ClinGen
ExAC
gnomAD
rs374687228
CA10204721
139 G>S No ClinGen
ESP
ExAC
gnomAD
CA411352667
rs746165512
140 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs781675840
CA411352665
140 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs781675840
CA10204723
140 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1350704581
CA411352680
143 G>R No ClinGen
gnomAD
rs368454530
CA10204726
144 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1481150465
CA411352693
145 Q>P No ClinGen
gnomAD
CA411352701
rs1601741743
146 V>G No ClinGen
Ensembl
CA411352710
rs1275901787
COSM3708231
148 K>E liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1456122355
CA411352720
149 K>E No ClinGen
gnomAD
CA411352724
rs1228175888
149 K>N No ClinGen
TOPMed
rs1456122355
CA411352718
149 K>Q No ClinGen
gnomAD
COSM272780
CA10204728
rs768800478
RCV001325924
151 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
rs5755713
CA323521926
152 Q>H No ClinGen
Ensembl
rs200966095
CA10204730
153 K>I No ClinGen
1000Genomes
ExAC
rs200255845
CA10204731
153 K>N No ClinGen
1000Genomes
ExAC
rs202031269
CA10204729
153 K>Q No ClinGen
1000Genomes
ExAC
CA411352767
rs1395110739
156 D>E No ClinGen
gnomAD
CA323521944
rs867240308
160 S>P No ClinGen
Ensembl
rs760594009
CA10204733
162 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs760594009
CA411352799
162 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10204734
rs200053095
163 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA323521960
rs996149451
164 L>V No ClinGen
Ensembl
CA10204735
rs753622181
166 F>L No ClinGen
ExAC
gnomAD
rs759192105
CA10204736
166 F>S No ClinGen
ExAC
gnomAD
rs764824843
CA10204737
167 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1446252924
CA411352833
167 F>S No ClinGen
TOPMed
gnomAD
rs752149044
CA10204738
171 N>D No ClinGen
ExAC
gnomAD
CA411352889
rs1308512619
171 N>K No ClinGen
gnomAD
CA10204739
rs757909193
171 N>S No ClinGen
ExAC
gnomAD
rs552652411
CA10204740
172 I>F No ClinGen
1000Genomes
ExAC
gnomAD
CA411352902
rs1256495165
172 I>T No ClinGen
gnomAD
rs552652411
CA411352896
172 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA323522023
rs1029004837
174 S>R No ClinGen
TOPMed
gnomAD
rs1319579083
CA411352952
177 K>E No ClinGen
TOPMed
rs750919042
CA411352964
177 K>N No ClinGen
ExAC
gnomAD
CA411352970
rs1569056302
178 F>L No ClinGen
Ensembl
rs778761905
CA323522026
180 Q>E No ClinGen
Ensembl
CA10204742
rs756629722
180 Q>H No ClinGen
ExAC
gnomAD
CA10204743
rs780433638
181 L>V No ClinGen
ExAC
gnomAD
rs749644285
CA10204745
183 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10204744
rs749644285
183 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs748169225
CA10204747
185 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10204748
rs748169225
185 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA323522058
rs867650379
185 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA411353057
rs867650379
185 R>L No ClinGen
gnomAD
rs947623654
CA323522071
186 M>V No ClinGen
TOPMed
CA411353090
rs1465332069
188 S>P No ClinGen
gnomAD
CA10204750
rs760635812
191 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA10204751
rs367760328
192 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148949789
CA10204752
193 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775119762
COSM2149494
CA10204755
194 A>T Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10204756
rs762652176
194 A>V No ClinGen
ExAC
gnomAD
CA411353306
rs1298165167
199 V>A No ClinGen
TOPMed
gnomAD
CA10204759
rs548430137
200 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10204758
rs751072024
200 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10204764
rs138349040
206 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10204762
rs199535572
206 A>S No ClinGen
1000Genomes
ExAC
gnomAD
COSM1033743
rs138349040
CA10204763
206 A>V endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 209 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411353473
rs1403756497
211 I>T No ClinGen
gnomAD
COSM1662161
rs202094347
CA323522187
212 Q>H kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA411353583
rs1373507590
213 L>V No ClinGen
gnomAD
rs1601744030
CA411353617
215 E>D No ClinGen
Ensembl
rs1241685742
CA411353624
216 E>* No ClinGen
gnomAD
CA411353653
rs1352922801
218 Q>E No ClinGen
gnomAD
rs745771727
CA10204789
218 Q>H No ClinGen
ExAC
gnomAD
rs199705355
CA411353707
223 H>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10204792
rs749101755
223 H>P No ClinGen
ExAC
gnomAD
rs199705355
CA10204791
223 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411353747
rs1233662522
225 T>I No ClinGen
TOPMed
gnomAD
CA411353745
rs1233662522
225 T>S No ClinGen
TOPMed
gnomAD
rs566190009
CA10204793
226 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411353768
rs1455111177
227 D>A No ClinGen
gnomAD
CA10204794
rs140364055
227 D>N No ClinGen
ESP
ExAC
gnomAD
rs1601744053
CA411353809
230 P>H No ClinGen
Ensembl
TCGA novel 232 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411353822
rs527424080
232 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411353825
rs1414251328
232 R>L No ClinGen
gnomAD
CA411353828
rs1414251328
232 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10204795
RCV001306486
rs527424080
232 R>W No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA411353831
rs771466012
233 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA10204796
rs771466012
233 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA411353836
rs1448467554
233 A>V No ClinGen
gnomAD
CA323525641
rs937789743
234 P>L No ClinGen
TOPMed
rs1375477038
CA411353855
235 G>A No ClinGen
TOPMed
gnomAD
rs1005700341
CA323525650
235 G>R No ClinGen
Ensembl
CA411353864
rs1375477038
235 G>V No ClinGen
TOPMed
gnomAD
rs145427664
CA10204799
237 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145427664
RCV001350633
CA10204798
237 R>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10204800
rs183007438
237 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411353891
rs1273376177
238 Q>* No ClinGen
TOPMed
gnomAD
rs1273376177
CA411353889
238 Q>E No ClinGen
TOPMed
gnomAD
CA10204804
RCV001320950
rs201083816
239 R>Q Variant assessed as Somatic; 4.786e-05 impact. [NCI-TCGA] No ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA10204803
rs374813554
239 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1468950550
CA411353908
240 A>T No ClinGen
gnomAD
CA411353916
rs1245484293
241 S>G No ClinGen
TOPMed
gnomAD
rs1477953350
CA411353919
241 S>T No ClinGen
TOPMed
gnomAD
CA10204806
rs750535199
242 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA411353927
rs1261195153
242 N>K No ClinGen
TOPMed
gnomAD
rs1426176726
CA411353937
244 V>M No ClinGen
gnomAD
rs757750519
CA323525723
245 Q>H No ClinGen
TOPMed
gnomAD
rs529551358
CA10204807
246 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs780175193
CA10204828
247 S>A No ClinGen
ExAC
gnomAD
CA10204829
rs200939820
247 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs778536840
CA10204831
248 A>T No ClinGen
ExAC
gnomAD
CA10204832
rs748004359
248 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs777575961
CA10204834
250 V>L No ClinGen
ExAC
gnomAD
CA411354092
rs777575961
250 V>M No ClinGen
ExAC
gnomAD
TCGA novel 250 V>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465655693
CA411354120
252 T>I No ClinGen
TOPMed
rs1601745725
CA411354112
252 T>P No ClinGen
Ensembl
rs772562670
CA323528575
253 P>L No ClinGen
Ensembl
CA411354128
rs1424064519
253 P>S No ClinGen
TOPMed
gnomAD
COSM1751847
CA411354144
rs1214295740
254 R>T urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
rs770555326
CA10204836
255 G>W No ClinGen
ExAC
gnomAD
CA411354220
rs769237502
260 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs749782022
CA10204838
260 N>T No ClinGen
ExAC
gnomAD
rs774532106
CA10204840
261 T>N No ClinGen
ExAC
gnomAD
rs149487862
RCV001348789
CA10204841
262 R>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA411354242
rs1297383655
262 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA411354268
rs1569059349
265 A>S No ClinGen
Ensembl
CA10204843
rs35980144
COSM132705
266 P>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA411354291
rs1340015433
267 L>H No ClinGen
gnomAD
rs935874465
CA323528666
268 L>P No ClinGen
Ensembl
CA10204845
rs766420732
269 R>* No ClinGen
ExAC
gnomAD
CA10204846
COSM1033744
rs143057716
269 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1240007740
CA411354337
271 V>I No ClinGen
gnomAD
rs754828801
CA10204847
273 T>K No ClinGen
ExAC
gnomAD
rs1601745778
CA411354418
274 L>F No ClinGen
Ensembl
CA10204848
rs767420233
277 L>F No ClinGen
ExAC
CA10204849
rs148193694
279 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10204851
rs374133554
280 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10204855
rs746642457
283 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA10204853
rs944783473
283 V>I No ClinGen
TOPMed
gnomAD
CA411354675
rs1177836220
285 L>F No ClinGen
gnomAD
CA411354696
rs1467383876
286 Y>* No ClinGen
gnomAD
CA10204857
rs780810520
286 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs202209408
CA10204858
287 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1601745813
CA411354700
287 A>S No ClinGen
Ensembl
rs1333482347
CA411354706
288 M>T No ClinGen
gnomAD
CA323528788
rs954025025
288 M>V No ClinGen
TOPMed
gnomAD

1 associated diseases with P09601

[MIM: 614034]: Heme oxygenase 1 deficiency (HMOX1D)

A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly. {ECO:0000269|PubMed:9884342}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly. {ECO:0000269|PubMed:9884342}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P09601

Type Name Position InterPro Accession
conserved_site Haem oxygenase conserved site 129 - 139 IPR018207

Functions

Description
EC Number 1.14.14.18 With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
Subcellular Localization
  • Endoplasmic reticulum membrane ; Single-pass type IV membrane protein ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
caveola A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
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.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.

8 GO annotations of molecular function

Name Definition
enzyme binding Binding to an enzyme, a protein with catalytic activity.
heme binding Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
heme oxygenase (decyclizing) activity Catalysis of the reaction: heme b + 3 O2 + 3 reduced
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.
phospholipase D activity Catalysis of the reaction: a phosphatidylcholine + H2O = choline + a phosphatidate.
protein homodimerization activity Binding to an identical protein to form a homodimer.
structural molecule activity The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.

52 GO annotations of biological process

Name Definition
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell.
cellular response to arsenic-containing substance 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 an arsenic stimulus from compounds containing arsenic, including arsenates, arsenites, and arsenides.
cellular response to cadmium ion 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 cadmium (Cd) ion stimulus.
cellular response to cisplatin 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 cisplatin stimulus.
cellular response to heat 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 heat stimulus, a temperature stimulus above the optimal temperature for that organism.
cellular response to hypoxia 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
cellular response to nutrient 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 nutrient stimulus.
endothelial cell proliferation The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
epithelial cell apoptotic process Any apoptotic process in an epithelial cell.
erythrocyte homeostasis Any process of regulating the production and elimination of erythrocytes within an organism.
heme catabolic process The chemical reactions and pathways resulting in the breakdown of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring.
heme oxidation The chemical reactions and pathways resulting in the loss of electrons from one or more atoms in heme.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
intrinsic apoptotic signaling pathway in response to DNA damage The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell.
liver regeneration The regrowth of lost or destroyed liver.
low-density lipoprotein particle clearance The process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.
macroautophagy The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded.
negative regulation of DNA binding Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
negative regulation of DNA-binding transcription factor activity Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
negative regulation of epithelial cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of epithelial cell apoptotic process.
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors.
negative regulation of leukocyte migration Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration.
negative regulation of macroautophagy Any process that stops, prevents, or reduces the frequency, rate or extent of macroautophagy.
negative regulation of mast cell cytokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell cytokine production.
negative regulation of mast cell degranulation Any process that stops, prevents, or reduces the rate of mast cell degranulation.
negative regulation of muscle cell apoptotic process Any process that decreases the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death.
negative regulation of neuron apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of smooth muscle cell proliferation Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation.
negative regulation of vascular associated smooth muscle cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation.
positive regulation of angiogenesis Any process that activates or increases angiogenesis.
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis Any process that activates or increases the frequency, rate or extent of blood vessel endothelial cell proliferation involved in sprouting angiogenesis.
positive regulation of cell migration involved in sprouting angiogenesis Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.
positive regulation of chemokine production Any process that activates or increases the frequency, rate, or extent of chemokine production.
positive regulation of epithelial cell apoptotic process Any process that activates or increases the frequency, rate or extent of epithelial cell apoptotic process.
positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of macroautophagy Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation.
positive regulation of smooth muscle cell proliferation Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
regulation of angiogenesis Any process that modulates the frequency, rate or extent of angiogenesis.
regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of DNA-binding transcription factor activity Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
regulation of transcription from RNA polymerase II promoter in response to iron Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter in response to an iron stimulus.
regulation of transcription from RNA polymerase II promoter in response to oxidative stress Modulation of the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
response to estrogen 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 stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics.
response to hydrogen peroxide 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 hydrogen peroxide (H2O2) stimulus.
response to nicotine 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 nicotine stimulus.
response to oxidative stress 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
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.
small GTPase mediated signal transduction The series of molecular signals in which a small monomeric GTPase relays a signal.
smooth muscle hyperplasia A process, occurring in smooth muscle, in which there is an increase in cell number by cell division, often leading to an increase in the size of an organ.
wound healing involved in inflammatory response The series of events that restore integrity to damaged tissue that contribute to an inflammatory response.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MERPQPDSMP QDLSEALKEA TKEVHTQAEN AEFMRNFQKG QVTRDGFKLV MASLYHIYVA
70 80 90 100 110 120
LEEEIERNKE SPVFAPVYFP EELHRKAALE QDLAFWYGPR WQEVIPYTPA MQRYVKRLHE
130 140 150 160 170 180
VGRTEPELLV AHAYTRYLGD LSGGQVLKKI AQKALDLPSS GEGLAFFTFP NIASATKFKQ
190 200 210 220 230 240
LYRSRMNSLE MTPAVRQRVI EEAKTAFLLN IQLFEELQEL LTHDTKDQSP SRAPGLRQRA
250 260 270 280
SNKVQDSAPV ETPRGKPPLN TRSQAPLLRW VLTLSFLVAT VAVGLYAM