AiPD: Autoinhibited Protein Database

Q8N2W9

Gene name	PIAS4
Protein name	E3 SUMO-protein ligase PIAS4
Names	PIASy, Protein inhibitor of activated STAT protein 4, Protein inhibitor of activated STAT protein gamma, PIAS-gamma
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51588
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

61-144 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

61-144 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8N2W9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N2W9-F1	Predicted				AlphaFoldDB

350 variants for Q8N2W9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1282649151 CA403358280	3	A>T		No	ClinGen gnomAD
rs1329960249 CA403358365	8	A>T		No	ClinGen gnomAD
TCGA novel	12	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403360550 rs1245443721	14	S>N		No	ClinGen gnomAD
CA403360701 rs1250182612	22	M>I		No	ClinGen gnomAD
rs1211879153 CA403360692	22	M>K		No	ClinGen gnomAD
CA9089654 rs374253879	27	V>M		No	ClinGen ESP ExAC gnomAD
rs1295890139 CA403360780	29	R>G		No	ClinGen TOPMed
rs760589223 CA9089655	29	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	30	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403360916 rs141222368	36	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778494339 CA9089659	37	E>K		No	ClinGen ExAC gnomAD
CA9089661 rs758037993	39	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9089663 rs747350292	53	E>G		No	ClinGen ExAC gnomAD
CA403361278 rs1396385714	53	E>Q		No	ClinGen gnomAD
CA403361330 rs1435055319	55	F>L		No	ClinGen TOPMed
CA403361421 rs1329882781	59	K>R		No	ClinGen gnomAD
rs769704640 CA9089667	63	E>K		No	ClinGen ExAC gnomAD
CA403361494 rs1599215220	64	T>P		No	ClinGen Ensembl
CA9089670 rs553988056	67	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9089669 rs553988056	67	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9089671 rs774765388	68	K>R		No	ClinGen ExAC TOPMed gnomAD
CA403361590 rs1599215244	70	N>T		No	ClinGen Ensembl
CA9089672 rs758152481	71	S>L		No	ClinGen ExAC gnomAD
CA403361626 rs1599215263	72	E>D		No	ClinGen Ensembl
CA9089674 rs753654253	73	P>S		No	ClinGen ExAC gnomAD
CA403361648 rs1158975672	74	A>P		No	ClinGen gnomAD
TCGA novel	74	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304431208 rs914947553	75	P>S		No	ClinGen TOPMed
rs142623244 CA9089677	77	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403361740 rs1227290825	78	H>Q		No	ClinGen TOPMed
CA9089679 rs369731508	78	H>Y		No	ClinGen ESP ExAC gnomAD
rs755230248 CA9089681	79	R>Q		No	ClinGen ExAC gnomAD
CA9089680 rs751242393	79	R>W		No	ClinGen ExAC TOPMed gnomAD
rs977840261 CA304431220	80	P>L		No	ClinGen TOPMed gnomAD
CA403361756 rs1290203666	80	P>T		No	ClinGen TOPMed
CA403361781 rs1305206223	82	D>G		No	ClinGen gnomAD
rs778466049 CA9089685	83	P>R		No	ClinGen ExAC gnomAD
rs756641652 CA9089684	83	P>T		No	ClinGen ExAC gnomAD
TCGA novel	84	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304431229 rs955710543	84	L>M		No	ClinGen TOPMed
CA403361804 rs955710543	84	L>V		No	ClinGen TOPMed
rs771160224 CA9089687	85	T>A		No	ClinGen ExAC gnomAD
CA403361825 rs1021533044	85	T>N		No	ClinGen TOPMed gnomAD
CA304431234 rs1021533044	85	T>S		No	ClinGen TOPMed gnomAD
rs146034709 CA9089689	86	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA403361848 rs1415632114	86	M>T		No	ClinGen gnomAD
rs1324632961 CA403361836	86	M>V		No	ClinGen Ensembl
CA9089690 rs768281556	87	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA403361918 rs1174862710	89	T>P		No	ClinGen gnomAD
CA304431240 rs889712236	90	Y>F		No	ClinGen TOPMed gnomAD
rs1599215402 CA403361973	91	D>A		No	ClinGen Ensembl
TCGA novel	91	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370475096 CA9089694	91	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200574015 CA9089696	92	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9089695 rs754930081	92	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754645720 CA9089698	94	G>S		No	ClinGen ExAC gnomAD
CA403362053 rs577156557	95	A>P		No	ClinGen ExAC TOPMed gnomAD
rs577156557 CA9089700	95	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA403362068 rs1599215420	96	V>L		No	ClinGen Ensembl
CA9089701 rs756486400	97	P>L		No	ClinGen ExAC gnomAD
CA403362079 rs1346248232	97	P>T		No	ClinGen gnomAD
rs1276032004 CA403362088	98	R>G		No	ClinGen gnomAD
rs994819976 CA304431255	98	R>S		No	ClinGen TOPMed
CA9089702 rs778378130	98	R>T		No	ClinGen ExAC gnomAD
rs1194110100 CA403362110	99	T>S		No	ClinGen TOPMed gnomAD
CA9089704 rs2289867	100	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA304431260 rs2289867	100	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA304431269 rs943597496	102	A>T		No	ClinGen Ensembl
rs1190280045 CA403362138	102	A>V		No	ClinGen gnomAD
CA403362152 rs1250752212	103	G>S		No	ClinGen gnomAD
rs1451165789 CA403362178	104	P>T		No	ClinGen gnomAD
CA9089708 rs775620072	106	I>V		No	ClinGen ExAC gnomAD
TCGA novel	107	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403362275 rs1599215493	108	Y>S		No	ClinGen Ensembl
rs773065787 CA9089711	110	V>A		No	ClinGen ExAC gnomAD
CA403362310 rs769605924 CA9089710	110	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769605924 COSM996406 CA304431284	110	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9089712 rs762889908	111	L>P		No	ClinGen ExAC gnomAD
rs773727077 CA304431299	115	Y>C		No	ClinGen Ensembl
CA403362451 rs1213343758	116	L>F		No	ClinGen gnomAD
rs759009184 CA9089715 CA403362475	118	G>R		No	ClinGen ExAC gnomAD
CA9089717 rs752315957	121	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1270939479 CA403362521	121	R>W		No	ClinGen gnomAD
rs1188758491 CA403362539	122	L>F		No	ClinGen TOPMed gnomAD
rs1247209233 CA403362561	123	P>R		No	ClinGen TOPMed gnomAD
rs111928159 CA9089719	124	A>P		No	ClinGen ExAC TOPMed gnomAD
COSM439483 rs111928159 CA304431317	124	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9089720 rs754342767	125	K>E		No	ClinGen ExAC gnomAD
CA304431324 rs905505157	126	T>I		No	ClinGen Ensembl
CA9089722 rs148740518	128	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373529709 CA9089723	129	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9089724 rs376431812	132	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9089725 rs370857173	132	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs777529629 CA9089728	134	V>A		No	ClinGen ExAC gnomAD
CA403362776 rs1429059576	134	V>L		No	ClinGen gnomAD
rs749121993 CA9089729	135	K>N		No	ClinGen ExAC gnomAD
rs759027208 CA9089732	140	N>T		No	ClinGen ExAC TOPMed gnomAD
rs150447524 CA9089733	141	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA9089734 rs775165266	142	L>M		No	ClinGen ExAC gnomAD
rs1445123107 CA403362929	143	D>N		No	ClinGen gnomAD
CA403362960 rs1324101273	145	L>V		No	ClinGen TOPMed
CA403363024 rs1165580590	149	T>I		No	ClinGen TOPMed
CA403363018 rs1185642644	149	T>S		No	ClinGen gnomAD
CA9089739 rs765784737	150	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1341045782 CA403367265	153	P>S		No	ClinGen TOPMed
CA403367357 rs1208981777	156	N>K		No	ClinGen TOPMed gnomAD
rs746464624 CA9089769	157	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768290359 CA9089770	163	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773419050 CA9089774	164	C>F		No	ClinGen ExAC gnomAD
rs769537741 CA9089773	164	C>R		No	ClinGen ExAC gnomAD
rs774851982 CA9089777	167	A>E		No	ClinGen ExAC gnomAD
CA403367598 rs766783529	167	A>P		No	ClinGen ExAC TOPMed gnomAD
rs766783529 CA403367601	167	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9089776 rs766783529	167	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1393692484 COSM349585 CA403367760	174	E>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA304439044 rs1040803145	177	R>Q		No	ClinGen TOPMed
CA9089779 rs377305529	178	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452722630 CA403367880	180	R>G		No	ClinGen TOPMed
rs1260314525 CA403369978	182	L>V		No	ClinGen TOPMed gnomAD
rs1189208747 CA403370064	183	Q>H		No	ClinGen gnomAD
rs749000055 CA9089811	183	Q>L		No	ClinGen ExAC gnomAD
rs771151053 CA403370070	184	P>A		No	ClinGen ExAC gnomAD
CA9089812 rs771151053	184	P>S		No	ClinGen ExAC gnomAD
CA9089813 rs779225437	185	G>R		No	ClinGen ExAC gnomAD
CA9089815 rs571784826	189	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1476361839 CA403370354	191	V>A		No	ClinGen TOPMed
rs1396546893 CA403370365	192	V>I		No	ClinGen TOPMed gnomAD
rs1354973324 CA403370440	193	L>Q		No	ClinGen gnomAD
rs1313260537 CA403370736	195	I>V		No	ClinGen gnomAD
rs1461541275 CA403370767	196	C>Y		No	ClinGen gnomAD
CA403370779 rs1296727365	197	Y>N		No	ClinGen gnomAD
rs1019470589 CA304441213	202	C>F		No	ClinGen Ensembl
rs1231262052 CA403370909	202	C>S		No	ClinGen gnomAD
rs750110815 CA9089850	203	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1599227663 CA403371115	208	Y>S		No	ClinGen Ensembl
rs1247938019 CA403371140	210	P>S		No	ClinGen TOPMed
rs528479610 CA9089853	211	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9089855 rs200867700	212	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9089856 rs748181758	213	A>S		No	ClinGen ExAC gnomAD
rs748181758 CA403371211	213	A>T		No	ClinGen ExAC gnomAD
rs1451030811 CA403371261	215	K>R		No	ClinGen gnomAD
rs1418692040 CA403371318	218	H>R		No	ClinGen gnomAD
TCGA novel	219	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403371356 rs1428048271	220	Y>C		No	ClinGen gnomAD
rs141113403 CA9089859	223	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9089860 rs771106134	224	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9089861 rs775323057	224	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403371630 rs1599227882	227	Y>S		No	ClinGen Ensembl
rs770378756 CA9089905	230	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9089909 rs753106051	233	G>R		No	ClinGen ExAC gnomAD
rs761178452 CA403371835	235	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764634633 CA9089911	238	R>K		No	ClinGen ExAC gnomAD
CA9089913 rs757315532	241	R>C		No	ClinGen ExAC gnomAD
rs977215281 CA304441392	241	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	242	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs973316079 CA304441396	243	I>V		No	ClinGen Ensembl
rs778839305 CA9089914	244	N>S		No	ClinGen ExAC TOPMed gnomAD
rs778839305 CA403372025	244	N>T		No	ClinGen ExAC TOPMed gnomAD
CA403372089 rs1451079873	246	T>N		No	ClinGen TOPMed
CA403372125 rs145838130	247	H>Q		No	ClinGen ESP ExAC gnomAD
rs1195857562 CA403372145	248	L>F		No	ClinGen TOPMed gnomAD
rs747881688 CA9089918 COSM996420	248	L>P	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs931086465 CA304441406	249	M>I		No	ClinGen Ensembl
rs910948410 CA304441411	253	S>L		No	ClinGen TOPMed gnomAD
rs777650005 CA9089920	253	S>P		No	ClinGen ExAC TOPMed gnomAD
CA9089922 rs770949260	254	A>D		No	ClinGen ExAC gnomAD
rs200365509 CA9089921	254	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA403372292 rs1369901709	255	T>A		No	ClinGen gnomAD
CA403372302 rs1231999279	255	T>I		No	ClinGen gnomAD
CA403372327 rs1341636831	257	R>C		No	ClinGen TOPMed gnomAD
rs773701146 CA9089923	257	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1303082695 CA403372336	258	I>F		No	ClinGen TOPMed
CA304441417 rs1040676979	259	T>I		No	ClinGen Ensembl
CA9089924 rs745450084	260	V>L		No	ClinGen ExAC
CA403372530 rs1395753806	266	G>S		No	ClinGen TOPMed
rs1475476869 CA403372558	267	K>Q		No	ClinGen gnomAD
rs1364169867 CA403372752	268	S>N		No	ClinGen gnomAD
TCGA novel	270	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9089965 rs376010709	271	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9089966 rs137864303	276	V>M		No	ClinGen ESP ExAC gnomAD
rs531098682 CA9089968	277	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs748398070 COSM1680525 CA9089967	277	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA403372970 rs1238753773	280	T>S		No	ClinGen gnomAD
rs1336786207 CA403372964	280	T>S		No	ClinGen gnomAD
rs1350726446 CA403372978	281	S>P		No	ClinGen gnomAD
CA9089972 rs774408856	282	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1178634658 CA403373046	285	L>M		No	ClinGen gnomAD
CA9089974 rs767577652	286	Q>E		No	ClinGen ExAC gnomAD
CA403373104 rs1418321960	288	L>V		No	ClinGen gnomAD
rs142374202 CA403373150	291	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142374202 CA9089977	291	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761472167 CA9089976	291	I>V		No	ClinGen ExAC gnomAD
CA304441509 rs954803175	293	V>I		No	ClinGen TOPMed
rs758377090 CA403373213	295	H>P		No	ClinGen ExAC gnomAD
rs758377090 CA9089979	295	H>R		No	ClinGen ExAC gnomAD
rs751060174 CA9089981 COSM1239835	296	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	299	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	301	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	303	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9090019 rs755590949	304	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA9090020 rs763668743	304	K>R		No	ClinGen ExAC gnomAD
rs753520939 CA9090021	308	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1241436975 CA403374966	308	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779223440 CA403375054	313	S>R		No	ClinGen ExAC gnomAD
CA403375074 rs1375709575	315	I>V		No	ClinGen TOPMed
CA403375086 rs1383574890	316	A>T		No	ClinGen TOPMed
CA403375102 rs1599231734	317	T>P		No	ClinGen Ensembl
TCGA novel	318	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403375132 rs1455270610	319	G>R		No	ClinGen TOPMed
CA403375161 rs1366586665	321	R>P		No	ClinGen TOPMed
rs748359367 CA9090030	324	L>F		No	ClinGen ExAC TOPMed gnomAD
CA403375217 rs1314199880	325	I>M		No	ClinGen gnomAD
CA403375376 rs1219553427	335	V>L		No	ClinGen TOPMed gnomAD
rs1219553427 CA403375372	335	V>M		No	ClinGen TOPMed gnomAD
CA9090070 rs749494347	338	R>L		No	ClinGen ExAC
CA9090069 rs778015695	338	R>W		No	ClinGen ExAC TOPMed
rs913349262 CA304442494	339	A>V		No	ClinGen Ensembl
CA9090072 rs779678732	340	E>D		No	ClinGen ExAC
rs7255988 CA403375507	342	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs7255988 CA304442495	342	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279387361 CA403375515	343	A>S		No	ClinGen gnomAD
rs761275153 CA9090076	345	L>Q		No	ClinGen ExAC
TCGA novel	349	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304442497 rs905850256	350	A>G		No	ClinGen TOPMed
CA9090078 rs368054611	350	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs573290406 CA9090080	351	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141381662 CA304442499	353	Y>F		No	ClinGen ESP TOPMed gnomAD
TCGA novel	355	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	356	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328340293 CA403375861	361	P>A		No	ClinGen TOPMed gnomAD
rs1328340293 CA403375855	361	P>S		No	ClinGen TOPMed gnomAD
CA403375887 rs1400673059	362	T>S		No	ClinGen gnomAD
rs182911350 CA9090084	364	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9090086 rs764058396	367	V>M		No	ClinGen ExAC gnomAD
CA304442502 rs1017950383	369	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA403376075 rs1365130113	371	P>L		No	ClinGen gnomAD
rs865800775 CA304442503	371	P>S		No	ClinGen Ensembl
TCGA novel	372	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139150317 CA9090091	373	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169284272 CA403376130	375	D>E		No	ClinGen TOPMed
CA9090093 rs748059852	375	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375800297	380	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs757251659 CA9090151	382	L>F		No	ClinGen ExAC TOPMed gnomAD
CA403377177 rs1364935195	384	S>L		No	ClinGen TOPMed gnomAD
CA403377175 rs1364935195	384	S>W		No	ClinGen TOPMed gnomAD
rs930106526 CA304443905	386	I>T		No	ClinGen Ensembl
rs1274817667 CA403377258	389	E>G		No	ClinGen gnomAD
rs200749383 CA9090155	389	E>K		No	ClinGen ExAC TOPMed gnomAD
CA403377266 rs1322098706	390	C>G		No	ClinGen gnomAD
CA403377296 rs1347481240	391	E>V		No	ClinGen TOPMed gnomAD
CA9090157 rs768234393	393	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1568223334 CA403377337	394	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1190040933 CA403377384	396	I>T		No	ClinGen TOPMed
rs1477628381 CA403377391	397	E>K		No	ClinGen gnomAD
CA403377403 rs1191698563	397	E>V		No	ClinGen gnomAD
CA403377430 rs1416478316	399	L>M		No	ClinGen gnomAD
rs1035852737 CA304443906	400	V>M		No	ClinGen TOPMed
CA9090164 rs774340944	402	G>S		No	ClinGen ExAC gnomAD
CA403377572 rs1397822945	406	P>L		No	ClinGen gnomAD
CA9090167 rs776468867	408	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9090168 rs761714054	408	R>H		No	ClinGen ExAC gnomAD
rs776468867 CA304443907	408	R>S		No	ClinGen ExAC TOPMed gnomAD
CA403377598 rs201898018	409	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9090170 COSM1740575 rs201898018	409	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1190929754 CA403377604	409	A>V		No	ClinGen gnomAD
rs765883460 CA9090172	410	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA403377616 rs1487993769	410	E>V		No	ClinGen gnomAD
CA9090174 rs368259481	413	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9090175 rs145338811	413	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145338811 CA403377673	413	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756505500 CA9090177	416	S>I		No	ClinGen ExAC
rs1442089986 CA403377745 COSM3692757	417	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs771465294 CA403377790	420	A>S		No	ClinGen ExAC TOPMed gnomAD
rs771465294 CA9090180	420	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA304443911 rs968786696	423	V>L		No	ClinGen TOPMed gnomAD
CA304443909 rs968786696	423	V>M		No	ClinGen TOPMed gnomAD
CA9090185 rs761658845	425	G>C		No	ClinGen ExAC gnomAD
CA403377865 rs761658845	425	G>S		No	ClinGen ExAC gnomAD
CA304443942 rs1035336855	426	P>S		No	ClinGen TOPMed
CA9090219 rs148794749	427	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758992349 CA9090218	427	S>P		No	ClinGen ExAC gnomAD
rs565166694 CA403378018	429	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs749075247 CA9090223	429	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9090224 rs565166694	429	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA304443948 rs112334040	430	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112334040 CA9090225	430	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112334040 CA403378030	430	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403378035 rs1196675695	431	G>R		No	ClinGen gnomAD
CA9090227 rs772112206	431	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1568223543 CA403378053	432	L>R		No	ClinGen Ensembl
CA9090231 rs151289664	434	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763666380 CA9090230	434	P>S		No	ClinGen ExAC gnomAD
CA9090233 rs765494888	435	A>T		No	ClinGen ExAC TOPMed gnomAD
rs750838012 CA9090234	435	A>V		No	ClinGen ExAC gnomAD
rs1362468408 CA403378084	436	P>L		No	ClinGen gnomAD
TCGA novel	437	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400915626 CA403378093	437	S>N		No	ClinGen gnomAD
rs868752033 CA304443960	438	V>A		No	ClinGen Ensembl
rs199991663 CA9090236	438	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1247480057 CA403378110	439	N>Y		No	ClinGen TOPMed gnomAD
rs1185241431 CA403378125	440	G>E		No	ClinGen TOPMed
CA9090237 COSM1239836 rs189209303	440	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs904636078 CA403378143	441	S>R		No	ClinGen TOPMed gnomAD
CA9090238 rs371787426	442	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA403378169 rs1215495349	443	A>V		No	ClinGen gnomAD
rs1367606866 CA403378206	446	S>N		No	ClinGen gnomAD
rs745731303 CA9090243	447	T>M		No	ClinGen ExAC TOPMed gnomAD
CA403378230 rs1382317580	448	G>C		No	ClinGen TOPMed gnomAD
CA403378227 rs1382317580	448	G>S		No	ClinGen TOPMed gnomAD
CA9090247 rs768177514	450	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9090249 rs761339485	451	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9090250 rs764999661 COSM439496	452	P>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA403378296 rs1162136089	453	V>M		No	ClinGen TOPMed
CA9090252 rs763380086	456	M>T		No	ClinGen ExAC TOPMed gnomAD
rs538626178 CA9090254	461	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403378450 rs1258390981	461	P>S		No	ClinGen gnomAD
CA9090257 rs76518919	463	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1180472271 CA403378493	463	A>V		No	ClinGen gnomAD
rs756273866 CA9090258	464	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9090259 rs756273866	464	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1308007219 CA403378770	476	S>L		No	ClinGen gnomAD
rs768619438 CA9090265	477	E>D		No	ClinGen ExAC gnomAD
rs1450883689 CA403378809	478	D>Y		No	ClinGen gnomAD
rs775999858 CA9090269	481	E>V		No	ClinGen ExAC gnomAD
rs1446609561 CA403378887	482	E>K		No	ClinGen gnomAD
rs1390832102 CA403378903	483	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9090273 rs372546036	484	E>D		No	ClinGen ESP TOPMed gnomAD
CA403378938 rs1372193382	484	E>Q		No	ClinGen TOPMed
CA403379074 rs769266512	488	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1200346084 CA403379088	489	E>G		No	ClinGen gnomAD
CA9090277 rs772948956	489	E>K		No	ClinGen ExAC TOPMed gnomAD
CA403379144 rs763362345	490	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9090279 rs766832572	491	E>K		No	ClinGen ExAC gnomAD
CA403379197 rs1434952103	493	G>R		No	ClinGen gnomAD
rs1428886412 CA403379253	495	R>Q		No	ClinGen gnomAD
rs760119109 CA9090281	495	R>W		No	ClinGen ExAC
rs1022727903 CA304444004	497	K>M		No	ClinGen TOPMed
CA403379287 rs1344058915	498	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768200481 CA9090282	499	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9090283 rs375573896	499	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375573896 CA403379307	499	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178269482 CA403379330	500	C>*		No	ClinGen gnomAD
CA9090284 rs760810762	500	C>F		No	ClinGen ExAC
rs1302736773 CA403379342	501	P>S		No	ClinGen TOPMed
CA304444009 rs1000048417	503	Q>H		No	ClinGen TOPMed
CA9090285 rs764177800	505	G>S		No	ClinGen ExAC gnomAD
rs1369152617 CA403379444	507	V>M		No	ClinGen gnomAD
rs757524630 CA9090287	508	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757524630 CA403379488	508	P>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8N2W9

2 regional properties for Q8N2W9

Type	Name	Position	InterPro Accession
domain	Transglutaminase-like	243 - 298	IPR002931
domain	Rad4/PNGase transglutaminase-like fold	278 - 361	IPR018325

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Nucleus, PML body	Colocalizes with SUMO1 and TCF7L2/TCF4 and LEF1 in a subset of PML (promyelocytic leukemia) nuclear bodies
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
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.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
transferase complex	A protein complex capable of catalyzing the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor).

8 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
SUMO ligase activity	Catalysis of the transfer of SUMO to a substrate protein via the reaction X-SUMO + S --> X + S-SUMO, where X is either an E2 or E3 enzyme, the X-SUMO linkage is a thioester bond, and the S-SUMO linkage is an isopeptide bond between the C-terminal amino acid of SUMO and the epsilon-amino group of lysine residues in the substrate.
SUMO transferase activity	Catalysis of the transfer of SUMO from one protein to another via the reaction X-SUMO + Y --> Y-SUMO + X, where both X-SUMO and Y-SUMO are covalent linkages.
transcription coregulator activity	A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
zinc ion binding	Binding to a zinc ion (Zn).

16 GO annotations of biological process

Name	Definition
central nervous system development	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
hair follicle development	The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.
limb epidermis development	The process whose specific outcome is the progression of the epidermis of the limb over time, from its formation to the mature structure. The limb epidermis is the outer epithelial layer of the limb, it is a complex stratified squamous epithelium.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of tumor necrosis factor-mediated signaling pathway	Any process that decreases the rate or extent of the tumor necrosis factor-mediated signaling pathway. The tumor necrosis factor-mediated signaling pathway is the series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor.
positive regulation of double-strand break repair via homologous recombination	Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination.
positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage	Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage.
positive regulation of keratinocyte apoptotic process	Any process that activates or increases the frequency, rate or extent of keratinocyte apoptotic process.
positive regulation of protein sumoylation	Any process that activates or increases the frequency, rate or extent of the addition of SUMO groups to a protein.
protein sumoylation	The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxy-terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
vitamin D metabolic process	The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q12216	NFI1	E3 SUMO-protein ligase SIZ2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q04195	SIZ1	E3 SUMO-protein ligase SIZ1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
O75925	PIAS1	E3 SUMO-protein ligase PIAS1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAAELVEAKN	MVMSFRVSDL	QMLLGFVGRS	KSGLKHELVT	RALQLVQFDC	SPELFKKIKE
70	80	90	100	110	120
LYETRYAKKN	SEPAPQPHRP	LDPLTMHSTY	DRAGAVPRTP	LAGPNIDYPV	LYGKYLNGLG
130	140	150	160	170	180
RLPAKTLKPE	VRLVKLPFFN	MLDELLKPTE	LVPQNNEKLQ	ESPCIFALTP	RQVELIRNSR
190	200	210	220	230	240
ELQPGVKAVQ	VVLRICYSDT	SCPQEDQYPP	NIAVKVNHSY	CSVPGYYPSN	KPGVEPKRPC
250	260	270	280	290	300
RPINLTHLMY	LSSATNRITV	TWGNYGKSYS	VALYLVRQLT	SSELLQRLKT	IGVKHPELCK
310	320	330	340	350	360
ALVKEKLRLD	PDSEIATTGV	RVSLICPLVK	MRLSVPCRAE	TCAHLQCFDA	VFYLQMNEKK
370	380	390	400	410	420
PTWMCPVCDK	PAPYDQLIID	GLLSKILSEC	EDADEIEYLV	DGSWCPIRAE	KERSCSPQGA
430	440	450	460	470	480
ILVLGPSDAN	GLLPAPSVNG	SGALGSTGGG	GPVGSMENGK	PGADVVDLTL	DSSSSSEDEE
490	500
EEEEEEEDED	EEGPRPKRRC	PFQKGLVPAC