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

17 structures for Q9Y6F1

Entry ID Method Resolution Chain Position Source
2EOC NMR - A 41-157 PDB
3C49 X-ray 280 A A 178-532 PDB
3C4H X-ray 210 A A 178-532 PDB
3CE0 X-ray 280 A A 178-532 PDB
3FHB X-ray 230 A A 178-532 PDB
4GV0 X-ray 190 A A 178-532 PDB
4GV2 X-ray 180 A A 178-532 PDB
4GV4 X-ray 180 A A 178-532 PDB
4L6Z X-ray 200 A A 178-532 PDB
4L70 X-ray 200 A A 178-532 PDB
4L7L X-ray 210 A A 178-532 PDB
4L7N X-ray 180 A A 178-532 PDB
4L7O X-ray 200 A A 178-532 PDB
4L7P X-ray 230 A A 178-532 PDB
4L7R X-ray 220 A A 178-532 PDB
4L7U X-ray 280 A A 178-532 PDB
AF-Q9Y6F1-F1 Predicted AlphaFoldDB

490 variants for Q9Y6F1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA74681261
rs866112543
2 A>D No ClinGen
Ensembl
rs918761252
CA353042434
2 A>P No ClinGen
TOPMed
gnomAD
CA74681259
rs918761252
2 A>T No ClinGen
TOPMed
gnomAD
RCV000896799
rs61729070
CA2426629
5 P>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs61729070
CA2426630
5 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2426628
rs751167668
5 P>S No ClinGen
ExAC
gnomAD
rs745627499
CA2426631
7 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs756022423
CA2426632
8 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1363493692
CA353042524
10 Q>L No ClinGen
gnomAD
CA353042550
rs780025809
12 E>D No ClinGen
ExAC
gnomAD
CA353042557
rs1577655831
13 G>V No ClinGen
Ensembl
rs768712096
CA2426635
14 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs778869919
CA2426638
15 E>V No ClinGen
ExAC
gnomAD
CA2426640
rs189015907
16 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1246056358
CA353042627
19 G>D No ClinGen
gnomAD
CA2426641
rs773475379
19 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA2426643
rs559905723
20 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2426644
rs777130796
20 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs559905723
CA2426642
20 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1424103029
CA353042644
22 A>T No ClinGen
TOPMed
gnomAD
rs1368283028
CA353042653
23 G>E No ClinGen
TOPMed
rs1043360310
CA353042658
24 R>K No ClinGen
TOPMed
gnomAD
CA74681376
rs1043360310
24 R>T No ClinGen
TOPMed
gnomAD
CA2426649
rs767255898
26 E>G No ClinGen
ExAC
gnomAD
rs1387637076
CA353042670
26 E>K No ClinGen
TOPMed
CA353042679
rs1275794552
27 D>A No ClinGen
gnomAD
CA2426650
rs750156231
27 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1298521980
CA353042687
28 P>H No ClinGen
TOPMed
gnomAD
CA2426651
rs755967363
29 F>I No ClinGen
ExAC
gnomAD
CA353042695
rs1404408798
29 F>L No ClinGen
TOPMed
CA2426652
rs779715407
30 R>C No ClinGen
ExAC
gnomAD
CA2426653
rs377163298
30 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377163298
CA353042700
30 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2426655
rs754890031
32 T>I No ClinGen
ExAC
gnomAD
rs370350966
CA2426658
33 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2426657
rs748207351
33 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA74681458
rs748207351
33 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2426662
rs1553715940
CA353042720
34 E>D No ClinGen
Ensembl
rs777971460
CA353042715
34 E>K No ClinGen
ExAC
gnomAD
rs777971460
CA2426660
34 E>Q No ClinGen
ExAC
gnomAD
CA74681524
rs368760022
37 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2426665
rs368760022
37 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353042735
rs1156310266
37 K>R No ClinGen
TOPMed
gnomAD
CA74681536
rs896284708
38 A>T No ClinGen
TOPMed
gnomAD
rs1577656040
CA353042743
38 A>V No ClinGen
Ensembl
CA2426666
rs371068434
40 P>L No ClinGen
ESP
ExAC
gnomAD
CA353042751
rs1407550102
40 P>S No ClinGen
gnomAD
CA2426668
rs77898224
RCV000972704
41 A>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2426669
rs77898224
41 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353042760
rs998111620
42 E>K No ClinGen
TOPMed
gnomAD
CA74681556
rs998111620
42 E>Q No ClinGen
TOPMed
gnomAD
rs1030523241
CA74681574
42 E>V No ClinGen
TOPMed
gnomAD
rs1227928596
CA353042773
43 K>N No ClinGen
gnomAD
rs368341120
CA2426670
44 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74681590
rs1007682490
44 R>H No ClinGen
TOPMed
gnomAD
CA353042775
rs1007682490
44 R>P No ClinGen
TOPMed
gnomAD
rs368341120
CA74681582
44 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1340942562
CA353042785
46 I>V No ClinGen
TOPMed
CA2426672
rs750029311
47 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2426673
rs781073336
47 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs781073336
CA74681617
47 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs375373643
CA2426675
48 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1179448538
CA353042838
51 T>I No ClinGen
gnomAD
CA353042831
rs1482514759
51 T>P No ClinGen
gnomAD
CA353042842
rs1472816252
52 C>R No ClinGen
TOPMed
gnomAD
CA2426677
rs778812042
52 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA74681628
rs919190481
56 S>N No ClinGen
gnomAD
CA353042919
rs1187863259
58 P>R No ClinGen
TOPMed
CA74681651
rs994226115
59 G>E No ClinGen
TOPMed
gnomAD
CA2426682
rs757453925
59 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2426684
rs746194544
61 Q>* No ClinGen
ExAC
gnomAD
CA2426685
rs367991633
61 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74682011
rs933680407
63 Y>F No ClinGen
Ensembl
rs1345270594
CA353043322
64 E>* No ClinGen
gnomAD
rs1345270594
CA353043308
64 E>K No ClinGen
gnomAD
rs751564378
CA2426698
68 C>R No ClinGen
ExAC
gnomAD
CA353043407
rs1275859385
68 C>Y No ClinGen
gnomAD
CA353043443
rs1211152599
71 N>H No ClinGen
gnomAD
rs746166733
CA2426701
72 Q>H No ClinGen
ExAC
gnomAD
rs781255408
CA2426700
72 Q>R No ClinGen
ExAC
gnomAD
CA353043524
rs1025059167
75 I>F No ClinGen
TOPMed
gnomAD
CA353043529
rs1471197112
75 I>T No ClinGen
TOPMed
CA74682074
rs1025059167
75 I>V No ClinGen
TOPMed
gnomAD
CA2426703
rs756366078
76 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780577794
CA2426705
78 N>S No ClinGen
ExAC
gnomAD
CA353043625
rs1559746986
79 N>S No ClinGen
Ensembl
rs1255157273
CA353043650
80 N>S No ClinGen
TOPMed
rs552254917
CA2426706
81 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs769313993
CA2426707
83 Y>C No ClinGen
ExAC
gnomAD
rs1468324474
CA353043711
83 Y>H No ClinGen
TOPMed
rs910827312
CA353043756
85 I>M No ClinGen
TOPMed
gnomAD
CA2426708
rs775035411
87 L>P No ClinGen
ExAC
gnomAD
CA2426709
VAR_056643
rs34224216
91 S>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1303112420
CA353043870
92 N>K No ClinGen
gnomAD
CA2426710
rs770544626
93 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2426712
rs745485603
93 R>H No ClinGen
ExAC
TOPMed
rs745485603
CA2426713
93 R>L No ClinGen
ExAC
TOPMed
CA2426714
rs759244368
94 F>L No ClinGen
ExAC
CA2426716
rs764966907
96 T>A No ClinGen
ExAC
gnomAD
rs1272668841
CA353043920
96 T>I No ClinGen
gnomAD
CA2426715
rs764966907
96 T>S No ClinGen
ExAC
gnomAD
CA2426718
rs763997868
97 C>F No ClinGen
ExAC
gnomAD
CA353043952
rs1269394296
99 N>H No ClinGen
gnomAD
CA2426719
rs751570746
100 R>C No ClinGen
ExAC
TOPMed
gnomAD
VAR_054622
rs28547534
CA74682171
100 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA353043976
rs28547534
100 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353043984
rs1452507037
101 W>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353043977
rs1269869991
101 W>R No ClinGen
gnomAD
rs1466029720
CA353043999
102 G>D No ClinGen
TOPMed
gnomAD
rs1322449143
CA353043994
102 G>S No ClinGen
TOPMed
CA2426721
rs372767757
103 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2426722
rs372767757
103 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74682189
rs1047814977
103 R>H No ClinGen
TOPMed
gnomAD
CA74682212
rs556624982
104 V>A No ClinGen
gnomAD
rs756424008
CA2426723
104 V>M No ClinGen
ExAC
gnomAD
CA2426741
rs190579855
107 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353044107
rs190579855
107 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770324920
CA2426744
108 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs541784687
CA353044177
112 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1577657312
CA353044168
112 I>V No ClinGen
Ensembl
CA353044237
rs1315438963
116 T>I No ClinGen
gnomAD
CA353044265
rs1245767035
118 L>P No ClinGen
gnomAD
rs1234254456
CA353044275
119 E>G No ClinGen
TOPMed
rs1559747197 123 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353044331
rs1436997381
123 K>E No ClinGen
TOPMed
CA74682339
rs943565070
125 F>L No ClinGen
TOPMed
gnomAD
CA2426748
rs754168916
125 F>S No ClinGen
ExAC
gnomAD
rs553698927
CA2426751
127 K>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1423151040
CA353044408
127 K>N No ClinGen
gnomAD
CA2426752
rs753100599
129 F>L No ClinGen
ExAC
gnomAD
CA353044460
rs778185003
130 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA2426754
rs778185003
130 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1046776
rs146036726
CA2426753
130 R>W endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2426756
rs139794805
134 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353044552
rs1380583136
135 N>K No ClinGen
gnomAD
rs1281474780
CA353044568
136 N>I No ClinGen
TOPMed
rs768381965
CA2426759
137 W>C No ClinGen
ExAC
gnomAD
CA2426758
rs200132301
137 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA353044577
rs1346236394
137 W>R No ClinGen
Ensembl
CA353044629
rs761611493
140 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs761611493
CA2426761
140 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2426760
rs201155006
140 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2426762
rs772010324
141 D>H No ClinGen
ExAC
gnomAD
CA2426764
rs760822264
142 H>R No ClinGen
ExAC
gnomAD
CA2426763
rs773069122
142 H>Y No ClinGen
ExAC
gnomAD
CA2426765
rs368155703
144 V>M No ClinGen
ESP
ExAC
gnomAD
CA353044762
rs1201709393
145 S>C No ClinGen
TOPMed
gnomAD
TCGA novel 145 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2426769
rs765482748
146 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2426767
rs200304190
146 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758739863
CA2426770
147 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1434515174
CA353044800
148 G>D No ClinGen
gnomAD
rs1177399444
CA353044836
149 K>N No ClinGen
TOPMed
CA2426775
rs142065339
153 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755552511
CA2426773
153 I>N No ClinGen
ExAC
TOPMed
gnomAD
COSM1538120
CA353044905
rs755552511
153 I>T lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1230843513
CA353044896
153 I>V No ClinGen
TOPMed
rs556975187
CA2426776
154 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA2426777
rs778466941
155 V>I No ClinGen
ExAC
gnomAD
rs1391466373
CA353045005
159 D>N No ClinGen
gnomAD
rs1436357016
CA353045033
160 E>G No ClinGen
gnomAD
CA2426778
rs747949223
166 V>M No ClinGen
ExAC
gnomAD
rs767985528
CA2426811
168 V>L No ClinGen
ExAC
gnomAD
TCGA novel 169 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750983836
CA2426812
170 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1351198757
CA353045476
171 G>D No ClinGen
gnomAD
rs764655833
CA2426814
172 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs752348794
CA2426816
173 V>L No ClinGen
ExAC
gnomAD
rs752348794
CA2426815
173 V>M No ClinGen
ExAC
gnomAD
rs1228725541
CA353045533
174 R>G No ClinGen
gnomAD
CA2426817
rs777612680
175 T>A No ClinGen
ExAC
gnomAD
CA353045600
rs1559747444
177 T>I No ClinGen
Ensembl
CA2426818
rs751381329
178 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA2426820
rs557304982
179 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371449435
CA2426819
COSM3696176
179 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353045693
rs1231731736
182 P>L No ClinGen
gnomAD
rs1467826738
CA353045688
182 P>S No ClinGen
TOPMed
gnomAD
rs769855939
CA2426822
184 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA353045748
rs1385031033
185 L>R No ClinGen
gnomAD
rs749485749
CA2426824
186 D>V No ClinGen
ExAC
gnomAD
CA74682826
rs868070734
188 A>D No ClinGen
Ensembl
CA353045803
rs868070734
188 A>V No ClinGen
Ensembl
rs774600519
CA2426826
190 Q>E No ClinGen
ExAC
gnomAD
rs1326913758
CA353045833
190 Q>R No ClinGen
gnomAD
rs1255736845
CA353045843
191 K>E No ClinGen
TOPMed
CA2426827
rs762148437
192 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1252295316
CA353045913
196 I>T No ClinGen
TOPMed
CA353045908
rs1448706323
196 I>V No ClinGen
gnomAD
rs936686024
CA74682859
198 S>G No ClinGen
TOPMed
CA2426828
rs772488674
198 S>N No ClinGen
ExAC
gnomAD
CA353045996
rs1316539453
201 M>I No ClinGen
TOPMed
CA2426833
rs762577128
206 M>I No ClinGen
ExAC
gnomAD
CA2426832
rs752121357
206 M>T No ClinGen
ExAC
gnomAD
CA2426831
rs200955531
206 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353046069
rs1280086813
207 A>T No ClinGen
gnomAD
CA353046099
rs1243002033
209 M>K No ClinGen
TOPMed
gnomAD
CA353046101
rs1243002033
209 M>T No ClinGen
TOPMed
gnomAD
CA2426835
rs751324062
209 M>V No ClinGen
ExAC
gnomAD
CA2426836
rs757047542
210 D>G No ClinGen
ExAC
gnomAD
CA74682876
rs867995336
211 L>M No ClinGen
gnomAD
CA353046125
rs867995336
211 L>V No ClinGen
gnomAD
rs773482557
CA2426848
213 V>M No ClinGen
ExAC
gnomAD
rs1421062246
CA353046214
215 K>E No ClinGen
TOPMed
CA2426850
rs761144798
216 M>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 217 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2426851
rs771324673
217 P>T No ClinGen
ExAC
gnomAD
CA353046276
rs1559747597
219 G>E No ClinGen
Ensembl
CA2426855
rs763703635
220 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA74683007
rs1051490353
222 S>N No ClinGen
Ensembl
rs761582982
CA353046311
CA2426857
222 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1345737446
CA353046312
223 K>Q No ClinGen
gnomAD
CA353046333
rs1280777501
224 Q>* No ClinGen
gnomAD
rs1335922542
CA353046343
224 Q>H No ClinGen
TOPMed
rs750153146
CA2426859
225 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750153146
CA353046347
225 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA2426862
rs766208894
225 Q>H No ClinGen
ExAC
gnomAD
rs755984921
CA2426860
225 Q>L No ClinGen
ExAC
TOPMed
rs753879087
CA2426863
226 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs149821166
CA2426866
228 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs564192189
CA2426864
228 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2426868
rs200544465
231 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200544465
CA2426869
231 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353046447
rs1490568612
232 A>V No ClinGen
gnomAD
rs199681575
CA2426872
235 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774027071
CA2426875
236 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs761446569
CA2426876
240 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs995264319
CA74683148
241 K>N No ClinGen
Ensembl
CA353046553
rs1423643511
242 G>D No ClinGen
TOPMed
gnomAD
rs1025275811
CA74683150
242 G>S No ClinGen
Ensembl
rs1423643511
CA353046556
242 G>V No ClinGen
TOPMed
gnomAD
rs375713100
CA2426878
244 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760383165
CA2426879
244 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs760383165
CA2426880
244 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs758563354
CA2426885
251 E>K No ClinGen
ExAC
gnomAD
rs1329214709
CA353046713
254 S>P No ClinGen
TOPMed
rs747264733
CA2426888
255 S>A No ClinGen
ExAC
gnomAD
CA2426889
rs371960861
256 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353046747
rs1292800378
256 H>Y No ClinGen
gnomAD
rs781639763
CA2426890
257 F>L No ClinGen
ExAC
gnomAD
CA353046824
rs1385834154
259 T>I No ClinGen
TOPMed
CA353046812
rs1577658459
259 T>P No ClinGen
Ensembl
CA2426892
rs369155045
260 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778334099
CA2426894
261 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA353046851
rs1189488920
261 I>T No ClinGen
TOPMed
gnomAD
CA2426895
rs79176238
262 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA74683307
rs762278473
262 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1376425597
CA353046912
264 N>K No ClinGen
TOPMed
CA2426898
rs770580933
266 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA353046954
rs1559747758
267 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
VAR_056644
rs323870
CA2426899
269 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2426900
rs759376439
270 P>T No ClinGen
ExAC
gnomAD
COSM1424317
rs752698881
CA2426902
271 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765147770
CA2426901
271 P>S No ClinGen
ExAC
gnomAD
CA2426904
rs764250768
274 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs751685874
CA2426905
276 P>S No ClinGen
ExAC
gnomAD
CA353047072
rs1479672420
277 E>K No ClinGen
gnomAD
CA2426906
rs373954134
280 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74683353
rs912447475
280 Q>R No ClinGen
TOPMed
gnomAD
CA353047097
rs1460756249
281 A>T No ClinGen
gnomAD
CA353047112
rs1577658602
283 K>E No ClinGen
Ensembl
rs1428714096
CA353047118
283 K>N No ClinGen
gnomAD
rs780698146
CA2426910
284 D>Y No ClinGen
ExAC
gnomAD
rs1039524045
CA74683373
285 M>T No ClinGen
TOPMed
CA353047141
rs1398246598
287 L>Q No ClinGen
TOPMed
rs1246069994
CA353047155
288 V>L No ClinGen
TOPMed
CA2426932
rs147106158
290 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370705194
CA353047176
291 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353047174
rs1559747998
291 D>V No ClinGen
Ensembl
rs780756887
CA353047182
292 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA74683629
rs912573993
292 I>S No ClinGen
Ensembl
CA2426936
rs185963971
293 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2426937
rs185963971
293 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1236983775
CA353047198
295 A>D No ClinGen
TOPMed
rs1292383963
CA353047208
297 A>T No ClinGen
Ensembl
rs1410800673
CA353047221
299 Q>* No ClinGen
gnomAD
rs367711623
CA74683657
302 S>C No ClinGen
ESP
CA353047252
rs1368847177
304 Q>K No ClinGen
TOPMed
rs1401706763
CA353047256
304 Q>R No ClinGen
gnomAD
CA2426940
rs768613911
306 K>R No ClinGen
ExAC
gnomAD
CA2426941
rs774210062
COSM3696177
307 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2426943
rs573971821
308 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773510395
CA2426944
309 E>G No ClinGen
ExAC
gnomAD
CA353047287
rs1298401829
309 E>Q No ClinGen
TOPMed
CA2426945
rs760998871
310 E>K No ClinGen
ExAC
gnomAD
CA353047296
rs1418679590
310 E>V No ClinGen
TOPMed
CA353047302
rs1577659038
311 V>G No ClinGen
Ensembl
CA353047307
rs1267960887
312 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA74683682
rs74982310
313 H>D No ClinGen
Ensembl
CA353047313
rs1577659057
313 H>P No ClinGen
Ensembl
CA2426946
rs201530765
313 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA74683702
rs938457848
314 P>S No ClinGen
Ensembl
CA353047331
rs1175221429
316 D>G No ClinGen
TOPMed
CA2426947
rs754198499
317 R>* Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353047335
rs754198499
317 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2426948
rs368640893
317 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353047341
rs1189457117
318 D>V No ClinGen
TOPMed
CA2426949
rs765770991
319 Y>C No ClinGen
ExAC
gnomAD
CA353047355
rs1487531619
320 Q>* No ClinGen
TOPMed
CA2426950
rs753149799
320 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs780707738
CA2426952
321 L>F No ClinGen
ExAC
gnomAD
rs1217477619
CA353047372
323 K>E No ClinGen
TOPMed
rs1470779320
CA353047401
327 Q>* No ClinGen
gnomAD
CA353047409
rs1177092600
328 L>V No ClinGen
gnomAD
CA2426954
rs562757156
329 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353047420
rs1213463635
330 D>G No ClinGen
TOPMed
CA353047428
rs1164456330
331 S>C No ClinGen
TOPMed
gnomAD
rs1164456330
CA353047429
331 S>F No ClinGen
TOPMed
gnomAD
rs1045321907
CA74683724
331 S>P No ClinGen
gnomAD
TCGA novel 332 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1559748129
CA353047430
332 G>R No ClinGen
Ensembl
rs201870307
CA2426955
335 E>A No ClinGen
1000Genomes
ExAC
gnomAD
CA353047460
rs1330940981
336 Y>* No ClinGen
gnomAD
rs749094633
CA2426956
336 Y>C No ClinGen
ExAC
gnomAD
CA353047482
rs760877290
338 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs760877290
CA2426962
338 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs199581414
CA2426963
340 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1408197306
CA353048092
340 Q>H No ClinGen
gnomAD
rs1577659359
CA353048139
344 E>* No ClinGen
Ensembl
CA353048186
rs1421632188
347 G>D No ClinGen
TOPMed
rs1189745860
CA353048192
348 S>G No ClinGen
TOPMed
CA353048203
rs1577659370
348 S>R No ClinGen
Ensembl
rs761707566
CA2426964
349 N>D No ClinGen
ExAC
gnomAD
rs1335798903
CA353048216
349 N>K No ClinGen
gnomAD
CA353048239
rs1258342395
351 R>K No ClinGen
gnomAD
CA74683835
rs759386901
351 R>W No ClinGen
Ensembl
rs1577659392
CA353048252
352 C>G No ClinGen
Ensembl
CA353048248
rs1577659392
352 C>S No ClinGen
Ensembl
CA2426965
rs759879310
352 C>Y No ClinGen
ExAC
gnomAD
CA2426967
rs753203252
353 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs765533970
CA2426966
353 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1442718289
CA353048306
357 H>D No ClinGen
Ensembl
rs764627892
CA2426969
COSM1663321
357 H>Q kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA353048325
rs1459426393
358 I>T No ClinGen
TOPMed
rs755676813
CA2426972
359 W>* No ClinGen
ExAC
gnomAD
CA2426971
rs755676813
359 W>C No ClinGen
ExAC
gnomAD
CA2426973
rs753433682
360 K>E No ClinGen
ExAC
gnomAD
CA2426974
rs754741701
361 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA2426975
rs778594031
362 N>K No ClinGen
ExAC
gnomAD
TCGA novel 363 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2426976
rs748058853
363 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1242913307
CA353048420
364 E>D No ClinGen
gnomAD
CA353048416
rs1179854368
364 E>G No ClinGen
TOPMed
gnomAD
rs1168599112
CA353048440
366 E>* No ClinGen
TOPMed
gnomAD
rs772102477
CA2426977
366 E>V No ClinGen
ExAC
gnomAD
CA353048499
rs1577659754
367 E>K No ClinGen
Ensembl
rs544556176
CA2426996
371 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs746957285
CA2426997
374 S>A No ClinGen
ExAC
rs770994413
CA2426998
375 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 376 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781165090
CA2427000
378 N>S No ClinGen
ExAC
gnomAD
rs746004739
CA2427001
379 R>G No ClinGen
ExAC
gnomAD
rs111921408
COSM1260940
CA2427003
379 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2427002
rs746004739
379 R>W No ClinGen
ExAC
gnomAD
CA74684163
rs1027753378
381 L>V No ClinGen
TOPMed
gnomAD
CA2427004
rs576950398
383 W>C No ClinGen
1000Genomes
ExAC
gnomAD
rs952223369
CA74684169
384 H>R No ClinGen
TOPMed
gnomAD
rs774778258
CA2427006
385 G>D No ClinGen
ExAC
gnomAD
CA2427005
RCV000949691
rs76343500
385 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1577659844
CA353048738
386 T>P No ClinGen
Ensembl
rs370827208
CA2427007
388 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373811748
CA2427008
389 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353048811
rs1577659869
390 V>G No ClinGen
Ensembl
CA2427010
rs376472160
390 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs569487633
CA2427011
392 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2427012
rs569487633
392 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2427014
rs764003034
393 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs751503675
CA2427015
394 I>V No ClinGen
ExAC
gnomAD
CA2427016
rs199520803
395 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 395 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 396 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781243530
CA2427017
396 T>S No ClinGen
ExAC
gnomAD
rs1259916749
CA353048888
398 G>W No ClinGen
TOPMed
CA2427018
rs201317730
400 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1303676002
CA2427019
400 R>H No ClinGen
TOPMed
CA353048935
rs1481625477
401 I>N No ClinGen
gnomAD
CA2427021
rs199671052
401 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353048940
rs374472117
402 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374472117
CA2427022
402 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1249729572
CA353048967
403 P>S No ClinGen
gnomAD
CA353048975
rs1456321786
404 H>N No ClinGen
gnomAD
TCGA novel 405 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA74684230
rs868804586
406 G>S No ClinGen
Ensembl
rs749523867
CA2427023
407 G>W No ClinGen
ExAC
gnomAD
rs368862832
CA2427024
COSM1424319
408 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774725267
CA2427025
408 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2427027
rs774725267
408 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs774725267
CA2427026
408 R>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 409 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353049066
rs1422338506
409 V>I No ClinGen
TOPMed
rs371906755
CA2427029
412 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371906755
CA353049148
412 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1461989223
CA353049147
412 G>S No ClinGen
gnomAD
rs775235337
CA2427031
414 Y>H No ClinGen
ExAC
gnomAD
CA2427033
rs531222167
418 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs751381242
CA2427034
419 N>D No ClinGen
ExAC
gnomAD
rs1310765927
CA353049350
420 S>N No ClinGen
gnomAD
CA2427035
rs757135609
421 K>R No ClinGen
ExAC
gnomAD
CA2427036
rs767354956
422 S>L No ClinGen
ExAC
gnomAD
CA353049392
rs1228232535
422 S>T No ClinGen
gnomAD
rs187375113
CA74684289
424 G>R No ClinGen
1000Genomes
rs1343349194
CA353049762
427 I>T No ClinGen
TOPMed
CA353049750
rs1429845114
427 I>V No ClinGen
TOPMed
rs750960039
CA353049773
428 G>D No ClinGen
Ensembl
CA74685079
rs750960039
428 G>V No ClinGen
Ensembl
CA2427055
CA353049802
rs368727238
429 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767354688
CA2427053
429 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA2427054
rs767354688
429 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA353049810
rs1430033459
430 K>T No ClinGen
TOPMed
CA353049826
rs1202311231
431 C>F No ClinGen
TOPMed
gnomAD
CA353049820
rs1175830831
431 C>R No ClinGen
TOPMed
rs1202311231
CA353049825
431 C>S No ClinGen
TOPMed
gnomAD
CA353049822
rs1202311231
431 C>Y No ClinGen
TOPMed
gnomAD
rs766341004
CA2427056
432 G>V No ClinGen
ExAC
gnomAD
CA353049858
rs1187468953
433 A>D No ClinGen
TOPMed
rs1559749010
CA353049855
433 A>T No ClinGen
Ensembl
CA353049872
rs1485779348
434 H>R No ClinGen
TOPMed
rs374483120
CA2427058
435 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1221157761
CA353049929
437 G>A No ClinGen
TOPMed
CA2427061
rs752978578
437 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA74685086
rs1057400584
439 M>V No ClinGen
TOPMed
gnomAD
rs1295919099
CA353050031
443 E>V No ClinGen
TOPMed
TCGA novel 449 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353050133
rs1406837294
450 H>D No ClinGen
gnomAD
CA353050140
rs1303628737
450 H>Q No ClinGen
TOPMed
gnomAD
rs778232806
CA2427063
451 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs199676447
CA2427064
454 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199676447
CA2427065
454 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1336091151
CA353050197
456 N>H No ClinGen
TOPMed
TCGA novel 458 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2427067
rs748807218
458 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1215450198
CA353050226
458 S>T No ClinGen
gnomAD
rs768290433
CA2427068
459 L>* No ClinGen
ExAC
gnomAD
rs1171456408
CA353050259
461 S>N No ClinGen
TOPMed
rs773813635
CA2427069
461 S>R No ClinGen
ExAC
gnomAD
rs1428258902
CA353050267
462 P>A No ClinGen
TOPMed
rs369716461
CA2427070
462 P>L No ClinGen
ESP
ExAC
gnomAD
TCGA novel 462 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2427071
rs771721568
465 G>S No ClinGen
ExAC
gnomAD
CA74685131
rs370384763
465 G>V No ClinGen
Ensembl
CA2427073
rs760510733
467 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA2427074
rs760510733
467 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs532572190
CA2427075
468 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA74685156
rs1015387529
468 S>N No ClinGen
TOPMed
CA353050342
rs1426682896
469 V>F No ClinGen
gnomAD
rs373129708
CA2427076
470 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2427078
rs377219878
471 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2427079
rs201544821
472 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2427080
rs201544821
472 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2427081
rs200954849
472 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353050364
rs1381945841
473 G>V No ClinGen
TOPMed
CA2427082
rs376234079
476 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1246202610
CA353050388
477 P>S No ClinGen
gnomAD
CA2427099
rs751839575
479 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs751839575
CA2427098
479 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA2427101
rs750916489
480 T>N No ClinGen
ExAC
gnomAD
CA2427102
rs78218556
481 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2427103
rs780471800
485 L>V No ClinGen
ExAC
gnomAD
CA353050935
rs1577661823
486 E>Q No ClinGen
Ensembl
rs1424371805
CA353050975
488 D>G No ClinGen
gnomAD
rs757910277
CA2427105
492 V>A No ClinGen
ExAC
gnomAD
rs747679406
CA2427104
492 V>M No ClinGen
ExAC
gnomAD
rs374239491
CA2427107
COSM1650160
493 V>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1424327
rs1333166723
CA353051067
495 P>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA353051065
rs1333166723
495 P>R No ClinGen
TOPMed
gnomAD
CA2427108
rs770674176
497 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA353051091
rs770674176
497 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1432337372
CA353051104
498 Q>R No ClinGen
gnomAD
CA353051117
rs1270303859
499 P>L No ClinGen
gnomAD
CA2427109
rs201864296
501 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA353051152
rs1216265477
502 C>Y No ClinGen
gnomAD
rs1256644326
CA353051172
503 P>L No ClinGen
TOPMed
gnomAD
rs1221792345
CA353051164
503 P>S No ClinGen
Ensembl
CA2427111
rs368229941
504 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353051204
rs1278234582
506 S>G No ClinGen
gnomAD
CA74685566
rs992986134
509 T>I No ClinGen
TOPMed
CA2427114
rs371768759
510 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2427113
rs371768759
510 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 514 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762153689
CA2427116
514 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs767887974
CA2427117
515 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA353051337
rs1577661941
515 Y>H No ClinGen
Ensembl
rs767887974
CA353051340
515 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA2427119
rs756490602
516 L>F No ClinGen
ExAC
gnomAD
CA353051408
rs1451238748
520 E>K No ClinGen
TOPMed
CA2427121
rs766904544
524 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2427122
rs199619306
524 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs201923901
CA2427124
526 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746563726
CA2427125
526 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs201923901
CA353051488
526 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1577661984
CA353051561
531 V>G No ClinGen
Ensembl

No associated diseases with Q9Y6F1

3 regional properties for Q9Y6F1

Type Name Position InterPro Accession
domain Poly(ADP-ribose) polymerase, regulatory domain 182 - 319 IPR004102
domain WGR domain 59 - 150 IPR008893
domain Poly(ADP-ribose) polymerase, catalytic domain 313 - 533 IPR012317

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Chromosome
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole
  • Almost exclusively localized in the nucleus and appears in numerous small foci and a small number of larger foci whereas a centrosomal location has not been detected (PubMed:16924674)
  • In response to DNA damage, localizes to sites of double-strand break (PubMed:21270334, PubMed:28447610)
  • Also localizes to single-strand breaks (PubMed:27530147)
  • Preferentially localized to the daughter centriole (PubMed:10329013)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
centriole A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
intercellular bridge A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
nuclear body Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
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.
site of double-strand break A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

7 GO annotations of molecular function

Name Definition
catalytic activity Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic.
NAD DNA ADP-ribosyltransferase activity Catalysis of the transfer of the ADP-ribose group of NAD+ to a residue in double-stranded DNA.
NAD+ ADP-ribosyltransferase activity Catalysis of the reaction: NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor.
NAD+- protein-aspartate ADP-ribosyltransferase activity Catalysis of the reaction: L-aspartyl- + NAD(+) = 4-O-(ADP-D-ribosyl)-L-aspartyl-
NAD+- protein-lysine ADP-ribosyltransferase activity Catalysis of the reaction: L-lysyl- + NAD(+) = H(+) + N(6)-(ADP-D-ribosyl)-L-lysyl-
NAD+-protein ADP-ribosyltransferase activity Catalysis of the reaction: amino acyl- + NAD+ = H+ + (ADP-D-ribosyl)-amino acyl-
NAD+-protein-glutamate ADP-ribosyltransferase activity Catalysis of the reaction: L-glutamyl- + NAD(+) = 5-O-(ADP-D-ribosyl)-L-glutamyl-

14 GO annotations of biological process

Name Definition
DNA ADP-ribosylation The covalent attachment of an ADP-ribosyl group to a residue in double-stranded DNA.
DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
double-strand break repair The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
negative regulation of isotype switching Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching.
negative regulation of telomerase RNA reverse transcriptase activity Any process that stops, prevents or reduces the frequency, rate or extent of telomerase RNA reverse transcriptase activity.
positive regulation of DNA ligation Any process that activates or increases the frequency, rate or extent of DNA ligation, the re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase.
positive regulation of double-strand break repair via nonhomologous end joining Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining.
protein ADP-ribosylation The transfer, from NAD, of ADP-ribose to protein amino acids.
protein auto-ADP-ribosylation The ADP-ribosylation by a protein of one or more of its own amino acid residues, or residues on an identical protein.
protein localization to site of double-strand break Any process in which a protein is transported to, or maintained at, a region of a chromosome at which a DNA double-strand break has occurred.
protein mono-ADP-ribosylation The transfer, from NAD, of a single (mono) ADP-ribose molecule to protein amino acids.
protein poly-ADP-ribosylation The transfer of multiple ADP-ribose residues from NAD to a protein amino acid, forming a poly(ADP-ribose) chain.
regulation of mitotic spindle organization Any process that modulates the rate, frequency or extent of the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
telomere maintenance Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences.

14 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P18493 PARP1 Poly [ADP-ribose] polymerase 1 Bos taurus (Bovine) SS
P26446 PARP1 Poly [ADP-ribose] polymerase 1 Gallus gallus (Chicken) SS
P35875 Parp Poly [ADP-ribose] polymerase Drosophila melanogaster (Fruit fly) SS
P09874 PARP1 Poly [ADP-ribose] polymerase 1 Homo sapiens (Human) SS
Q9UGN5 PARP2 Poly [ADP-ribose] polymerase 2 Homo sapiens (Human) EV
O50017 PARP2 Poly [ADP-ribose] polymerase 2 Zea mays (Maize) SS
P11103 Parp1 Poly [ADP-ribose] polymerase 1 Mus musculus (Mouse) SS
O88554 Parp2 Poly [ADP-ribose] polymerase 2 Mus musculus (Mouse) SS
P27008 Parp1 Poly [ADP-ribose] polymerase 1 Rattus norvegicus (Rat) SS
Q0JMY1 PARP2-B Poly [ADP-ribose] polymerase 2-B Oryza sativa subsp. japonica (Rice) SS
Q5Z8Q9 PARP2-A Poly [ADP-ribose] polymerase 2-A Oryza sativa subsp. japonica (Rice) SS
Q11207 PARP2 Poly [ADP-ribose] polymerase 2 Arabidopsis thaliana (Mouse-ear cress) SS
Q9ZP54 PARP1 Poly [ADP-ribose] polymerase 1 Arabidopsis thaliana (Mouse-ear cress) SS
Q5RHR0 parp1 Poly [ADP-ribose] polymerase 1 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MAPKPKPWVQ TEGPEKKKGR QAGREEDPFR STAEALKAIP AEKRIIRVDP TCPLSSNPGT
70 80 90 100 110 120
QVYEDYNCTL NQTNIENNNN KFYIIQLLQD SNRFFTCWNR WGRVGEVGQS KINHFTRLED
130 140 150 160 170 180
AKKDFEKKFR EKTKNNWAER DHFVSHPGKY TLIEVQAEDE AQEAVVKVDR GPVRTVTKRV
190 200 210 220 230 240
QPCSLDPATQ KLITNIFSKE MFKNTMALMD LDVKKMPLGK LSKQQIARGF EALEALEEAL
250 260 270 280 290 300
KGPTDGGQSL EELSSHFYTV IPHNFGHSQP PPINSPELLQ AKKDMLLVLA DIELAQALQA
310 320 330 340 350 360
VSEQEKTVEE VPHPLDRDYQ LLKCQLQLLD SGAPEYKVIQ TYLEQTGSNH RCPTLQHIWK
370 380 390 400 410 420
VNQEGEEDRF QAHSKLGNRK LLWHGTNMAV VAAILTSGLR IMPHSGGRVG KGIYFASENS
430 440 450 460 470 480
KSAGYVIGMK CGAHHVGYMF LGEVALGREH HINTDNPSLK SPPPGFDSVI ARGHTEPDPT
490 500 510 520 530
QDTELELDGQ QVVVPQGQPV PCPEFSSSTF SQSEYLIYQE SQCRLRYLLE VHL