AiPD: Autoinhibited Protein Database

O75925

Gene name	PIAS1 (DDXBP1)
Protein name	E3 SUMO-protein ligase PIAS1
Names	DEAD/H box-binding protein 1, E3 SUMO-protein transferase PIAS1, Gu-binding protein, GBP, Protein inhibitor of activated STAT protein 1, RNA helicase II-binding protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8554
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

434-515 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

434-515 (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

2 structures for O75925

Entry ID	Method	Resolution	Chain	Position	Source
1V66	NMR	-	A	1-65	PDB
AF-O75925-F1	Predicted				AlphaFoldDB

367 variants for O75925

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7629744 RCV000662276 rs774456004	106	S>L	Nephronophthisis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs928724922 CA272788223	3	D>E		No	ClinGen TOPMed gnomAD
CA272788225 rs374155274	4	S>G		No	ClinGen ESP TOPMed gnomAD
rs1345641642 CA393213004	4	S>I		No	ClinGen gnomAD
rs1008352422 CA272788233	5	A>P		No	ClinGen Ensembl
rs865886441 CA272788247	5	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs759817649 CA7629671	6	E>D		No	ClinGen ExAC TOPMed gnomAD
CA393213033 rs1441396519	6	E>G		No	ClinGen gnomAD
CA393213045 rs1249549451	7	L>V		No	ClinGen TOPMed gnomAD
rs1597102144 CA393213057	8	K>Q		No	ClinGen Ensembl
CA393213066 rs1358060023	8	K>R		No	ClinGen TOPMed
CA272835437 rs770198322	11	V>I		No	ClinGen TOPMed gnomAD
CA393211364 rs1482346199	12	M>T		No	ClinGen gnomAD
CA393211424 rs1182839443	21	V>I		No	ClinGen TOPMed
CA272835471 rs896136275	25	Y>C		No	ClinGen gnomAD
rs201183628 COSM555905 CA272835485	26	A>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA393211455 rs201183628	26	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
COSM194428 CA393211460 rs1427841580	27	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1595712581 CA393211505 COSM3744723	33	R>C	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1335623770 CA393211519	35	H>Y		No	ClinGen gnomAD
CA393211542 rs1196219260	38	L>F		No	ClinGen gnomAD
CA393211548 rs1295862159	39	T>A		No	ClinGen gnomAD
CA7629714 rs762857336	40	K>E		No	ClinGen ExAC gnomAD
rs752273357 CA7629719	55	M>I		No	ClinGen ExAC TOPMed gnomAD
rs901771925 CA272835574	59	E>D		No	ClinGen TOPMed
CA7629721 rs779395221	63	R>Q		No	ClinGen ExAC gnomAD
CA7629722 rs750870287	65	F>V		No	ClinGen ExAC gnomAD
rs1412162051 CA393211757	70	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780507259 CA7629724	71	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7629726 rs768946990	72	P>S		No	ClinGen ExAC gnomAD
CA272835628 rs976409235	75	L>S		No	ClinGen Ensembl
CA393211800 rs1437669800	76	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748245105 CA7629729	78	P>A		No	ClinGen ExAC gnomAD
rs748245105 CA7629728	78	P>S		No	ClinGen ExAC gnomAD
CA393211813 rs1595712716	79	N>D		No	ClinGen Ensembl
rs1222914658 CA393211816	79	N>S		No	ClinGen gnomAD
rs200228138 CA7629731	80	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200228138 CA7629732	80	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774247965 CA7629733	81	H>D		No	ClinGen ExAC gnomAD
CA393211827 rs1283872273	81	H>L		No	ClinGen gnomAD
rs1283872273 CA393211826	81	H>R		No	ClinGen gnomAD
TCGA novel	83	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248326712 CA393211856	85	M>I		No	ClinGen gnomAD
CA7629735 rs767229507	85	M>V		No	ClinGen ExAC gnomAD
CA272835708 rs752225524	88	T>I		No	ClinGen ExAC TOPMed gnomAD
rs752225524 CA7629736	88	T>S		No	ClinGen ExAC TOPMed gnomAD
CA393211878 rs1198687549	89	L>S		No	ClinGen gnomAD
rs1251880639 CA393211890	91	P>S		No	ClinGen gnomAD
rs202215274 CA7629737	93	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs763662294 CA7629738	93	T>I		No	ClinGen ExAC gnomAD
rs1033536940 CA272835729	94	I>F		No	ClinGen TOPMed
CA393211905 rs1033536940	94	I>V		No	ClinGen TOPMed
rs753314959 CA7629739	95	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753314959 CA393211913	95	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1299033715 CA393211926	97	L>H		No	ClinGen gnomAD
CA393211931 rs1487787824	98	T>S		No	ClinGen TOPMed
rs372799008 CA7629742	100	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334123753 CA393212011	103	P>T		No	ClinGen gnomAD
CA393212103 rs1365947717	109	L>V		No	ClinGen TOPMed
CA393212122 rs1228608315	110	P>R		No	ClinGen gnomAD
CA7629747 rs778035039	111	V>I		No	ClinGen ExAC gnomAD
rs778035039 CA7629748	111	V>L		No	ClinGen ExAC gnomAD
rs770920617 CA7629749	112	S>P		No	ClinGen ExAC gnomAD
rs1275304023 CA393212196	116	P>A		No	ClinGen gnomAD
TCGA novel	117	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745678302 CA7629751	118	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7629752 rs771705290	120	L>P		No	ClinGen ExAC gnomAD
rs763713711 CA7629755	121	E>D		No	ClinGen ExAC gnomAD
rs760361318 CA7629754	121	E>G		No	ClinGen ExAC gnomAD
rs1424465902 CA393212266	123	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA393212280 rs1169737726	125	L>P		No	ClinGen gnomAD
CA272835863 rs927558930	126	T>I		No	ClinGen TOPMed gnomAD
CA393212285 rs927558930	126	T>R		No	ClinGen TOPMed gnomAD
rs1328274055 CA393212291	127	S>L		No	ClinGen TOPMed gnomAD
CA272835872 rs551507367	128	A>V		No	ClinGen gnomAD
CA7629756 rs776143896	129	L>P		No	ClinGen ExAC gnomAD
CA7629758 rs766917014	130	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs751955819 CA7629759	132	V>L		No	ClinGen ExAC gnomAD
rs759607395 CA7629762	134	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759607395 CA7629761	134	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	Q>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393212398 rs1474710567	144	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	146	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393212447 rs1334912893	151	I>L		No	ClinGen gnomAD
rs772016203 CA7629769	151	I>M		No	ClinGen ExAC gnomAD
CA7629771 rs746759971	153	P>S		No	ClinGen ExAC gnomAD
rs1367173949 CA393212474	155	S>G		No	ClinGen gnomAD
rs768330739 CA7629772	156	L>V		No	ClinGen ExAC TOPMed gnomAD
CA393210244 rs1426459573	157	A>V		No	ClinGen gnomAD
TCGA novel	159	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769460360 CA7629793	159	D>V		No	ClinGen ExAC gnomAD
CA393210259 rs1238244680	160	N>H		No	ClinGen TOPMed
rs1333849976 COSM964331 CA393210262	160	N>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1333627977 CA393210267	161	S>G		No	ClinGen gnomAD
rs772644093 CA7629794	163	R>C		No	ClinGen ExAC gnomAD
TCGA novel	163	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393210286 rs1309039283	163	R>L		No	ClinGen TOPMed
rs762472706 CA7629795	164	F>L		No	ClinGen ExAC gnomAD
CA393210296 rs772734842	165	R>P		No	ClinGen ExAC TOPMed gnomAD
rs772734842 CA7629796	165	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776072015 CA7629797	166	E>D		No	ClinGen ExAC gnomAD
CA393210324 rs1374587750	169	F>S		No	ClinGen TOPMed
rs764610111 CA7629799	170	A>T		No	ClinGen ExAC gnomAD
rs1184449768 CA393210354	174	T>A		No	ClinGen gnomAD
CA393210364 rs1418712646	175	P>L		No	ClinGen gnomAD
CA393210391 rs1264894159	179	Q>R		No	ClinGen gnomAD
CA272877499 rs900829933	180	Q>P		No	ClinGen Ensembl
CA7629820 rs371963919	186	D>H		No	ClinGen ESP ExAC gnomAD
CA393210465 rs1216807597	187	I>M		No	ClinGen gnomAD
rs763150181 CA7629821	189	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7629823 rs375019692	198	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198191824 CA393210585	203	C>S		No	ClinGen gnomAD
CA7629842 rs774433195	207	T>A		No	ClinGen ExAC
rs1201803874 CA393210663	214	H>Y		No	ClinGen TOPMed
rs1157367921 CA393210671	215	F>V		No	ClinGen gnomAD
rs759568509 CA7629844	215	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA393210688 rs1274281940	218	N>H		No	ClinGen TOPMed
CA7629845 rs767357220	218	N>S		No	ClinGen ExAC gnomAD
CA7629846 rs752620644	219	L>V		No	ClinGen ExAC gnomAD
rs759623272 CA7629862	234	L>F		No	ClinGen ExAC gnomAD
rs767691694 CA7629863	235	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM964332 rs763915443 CA7629867	241	V>L	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7629866 rs763915443	241	V>M		No	ClinGen ExAC TOPMed gnomAD
rs764996234 CA393210884 COSM964333	245	R>L	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs764996234 CA7629869	245	R>Q		No	ClinGen ExAC gnomAD
rs750160251 CA7629870	248	R>Q		No	ClinGen ExAC gnomAD
rs866999588 CA272879134	249	P>Q		No	ClinGen Ensembl
CA7629871 rs757985548	250	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1159907524 CA393210928	252	I>M		No	ClinGen TOPMed
rs779657844 CA7629872	253	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	254	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7629873 rs751014308	254	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	256	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595764834 CA393210955	257	R>Q		No	ClinGen Ensembl
CA272879150 rs928489712	263	P>Q		No	ClinGen Ensembl
CA7629874 rs756670514	265	T>M		No	ClinGen ExAC gnomAD
rs1567063159 CA393211000	265	T>S		No	ClinGen Ensembl
rs749653117 CA7629876	267	V>I		No	ClinGen ExAC TOPMed
CA393211039 rs1338439773	271	T>N		No	ClinGen gnomAD
CA393211045 rs771224302	272	A>E		No	ClinGen ExAC gnomAD
rs771224302 CA7629877	272	A>V		No	ClinGen ExAC gnomAD
rs1245115013 CA393211067	275	G>A		No	ClinGen gnomAD
CA393211094 rs1428626213	277	N>D		No	ClinGen gnomAD
rs1161965831 CA393211098	277	N>K		No	ClinGen TOPMed
CA7629900 rs746194576	277	N>S		No	ClinGen ExAC gnomAD
rs1323691102 CA393211111	279	S>C		No	ClinGen gnomAD
rs772361559 CA7629901	280	M>L		No	ClinGen ExAC TOPMed gnomAD
rs772361559 CA7629902	280	M>V		No	ClinGen ExAC TOPMed gnomAD
CA393211127 rs776848307 CA7629905	282	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761883922 CA7629906	285	V>I		No	ClinGen ExAC
CA393211180 rs1225398231	290	S>P		No	ClinGen gnomAD
rs374400828 CA7629908	291	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188164647 CA393211212	295	Q>L		No	ClinGen TOPMed
CA393211211 rs1188164647	295	Q>R		No	ClinGen TOPMed
rs1445771976 CA393211216	296	R>G		No	ClinGen gnomAD
rs1290746634 CA393211222	296	R>S		No	ClinGen TOPMed
rs562485835 CA7629909	299	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA393211263 rs1361074662	303	R>K		No	ClinGen TOPMed
rs377749145 CA7629911	305	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA393211280 rs1197475971	305	P>L		No	ClinGen gnomAD
rs1246210256 CA393211282	306	D>H		No	ClinGen gnomAD
CA393211314 rs1298426827	310	A>G		No	ClinGen TOPMed
TCGA novel	311	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393211951 rs1274528513	313	K>E		No	ClinGen TOPMed
TCGA novel	317	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393212020 rs1385708212	318	A>V		No	ClinGen gnomAD
CA7629931 rs774195055	322	S>N		No	ClinGen ExAC gnomAD
CA393212067 rs1595781528	322	S>R		No	ClinGen Ensembl
rs1301048221 CA393212086	324	I>V		No	ClinGen gnomAD
CA393212109 rs1567071841	326	T>A		No	ClinGen Ensembl
TCGA novel	327	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1299466497 CA393212154	330	R>K		No	ClinGen gnomAD
CA393212159 rs1326662986	331	V>I		No	ClinGen TOPMed
TCGA novel	336	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1050423603 CA272886582	340	M>T		No	ClinGen Ensembl
CA7629948 rs777899437	340	M>V		No	ClinGen ExAC gnomAD
CA7629950 rs770873570	341	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	341	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347129793 CA393212538	343	T>K		No	ClinGen TOPMed
rs1041641976 CA272886590	344	I>V		No	ClinGen TOPMed gnomAD
CA272886594 rs867931091	345	P>L		No	ClinGen Ensembl
CA7629953 rs771743634 COSM269884	347	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1476119019 CA393212581	350	T>I		No	ClinGen TOPMed
rs1484695834 CA393212612	355	Q>P		No	ClinGen TOPMed
rs1262108690 CA393212617	356	C>S		No	ClinGen TOPMed
CA393212643 rs1188255634	359	A>S		No	ClinGen gnomAD
CA393212641 rs1188255634	359	A>T		No	ClinGen gnomAD
rs1245053384 CA393212654	361	L>V		No	ClinGen gnomAD
CA393212684 rs1271879021	365	M>L		No	ClinGen TOPMed
CA7629956 rs763578011	367	E>A		No	ClinGen ExAC gnomAD
CA7629957 rs776173530	368	K>N		No	ClinGen ExAC gnomAD
CA393212721 rs1235698246	370	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	370	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447826215 CA393212729	371	T>A		No	ClinGen gnomAD
CA393212732 rs1341527600	371	T>I		No	ClinGen TOPMed
TCGA novel	372	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7629961 rs759908870	379	K>T		No	ClinGen ExAC
CA272886626 rs370575414	382	P>T		No	ClinGen ESP TOPMed
TCGA novel	384	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7629963 rs565432107	384	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs756403841 CA7629964	386	L>I		No	ClinGen ExAC
rs1321430597 CA393212851	388	I>M		No	ClinGen TOPMed
CA272887120 rs944228935	391	L>F		No	ClinGen TOPMed
rs768330087 CA7629975	392	F>L		No	ClinGen ExAC gnomAD
CA393212894 rs1156230982	393	M>L		No	ClinGen TOPMed
CA393212918 rs1380229513	396	L>I		No	ClinGen TOPMed gnomAD
rs956249284 CA272887125	405	I>M		No	ClinGen Ensembl
CA393213074 rs1405345741	409	E>D		No	ClinGen TOPMed gnomAD
rs372084682 CA7629978	410	D>G		No	ClinGen ESP ExAC gnomAD
rs761343164 CA7629977	410	D>N		No	ClinGen ExAC gnomAD
rs1373732184 CA393213110	414	A>S		No	ClinGen gnomAD
CA393213119 rs1225272588	415	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	416	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352897808 CA393213131	417	R>K		No	ClinGen gnomAD
TCGA novel	420	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7629981 rs768065521	422	V>I		No	ClinGen ExAC gnomAD
CA393213167 rs768065521	422	V>L		No	ClinGen ExAC gnomAD
CA7629982 rs753083637	423	Q>R		No	ClinGen ExAC gnomAD
CA7629984 rs764330268	425	V>F		No	ClinGen ExAC gnomAD
TCGA novel	426	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393213199 rs1233112636	427	A>S		No	ClinGen gnomAD
CA393213201 rs1481783974	427	A>V		No	ClinGen gnomAD
rs778836361 CA7629987	429	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	429	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7629988 COSM94965 rs372264491	430	N>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs746755989 CA7629991	433	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746755989 CA393213236	433	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA272887388 rs949744041	434	G>A		No	ClinGen TOPMed gnomAD
CA7630007 rs750478248	435	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1344520632 CA393213296	440	L>S		No	ClinGen TOPMed
rs1257054765 CA393213314	442	H>Q		No	ClinGen gnomAD
rs765799572 CA7630011	442	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA7630012 rs780831680	444	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7630013 rs747905676	445	A>T		No	ClinGen ExAC TOPMed gnomAD
rs139426789 CA7630014	445	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748762098 CA7630016	446	S>T		No	ClinGen ExAC TOPMed gnomAD
CA393213339 rs1476900952	447	H>Y		No	ClinGen gnomAD
CA7630017 rs772738857	450	S>C		No	ClinGen ExAC gnomAD
rs1193159304 CA393213363	450	S>P		No	ClinGen gnomAD
CA7630019 rs369781526	454	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA393213407 rs1399860722	456	K>R		No	ClinGen gnomAD
CA7630021 rs776828993	458	E>Q		No	ClinGen ExAC gnomAD
rs762143863 CA7630022	462	L>I		No	ClinGen ExAC gnomAD
TCGA novel	462	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345748728 CA393213459	464	I>T		No	ClinGen gnomAD
CA272887449 rs773552016	469	D>G		No	ClinGen Ensembl
rs762951056 CA7630025	470	E>Q		No	ClinGen ExAC gnomAD
CA7630026 rs766314638	471	E>G		No	ClinGen ExAC gnomAD
CA393213515 rs1192707816	472	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	472	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487317553 CA393213544	476	S>Y		No	ClinGen gnomAD
CA7630029 rs767389213	477	A>G		No	ClinGen ExAC gnomAD
CA7630028 rs754863546	477	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1481012284 CA393213556	478	K>R		No	ClinGen TOPMed
rs1251562978 CA393213561	479	R>W		No	ClinGen TOPMed
CA393213577 rs1490895450	480	T>I		No	ClinGen gnomAD
rs1567077683 CA393213609	483	S>C		No	ClinGen Ensembl
rs1375677750 CA393213617	484	L>P		No	ClinGen gnomAD
rs752416090 CA7630030	484	L>V		No	ClinGen ExAC gnomAD
CA393213628 rs901211323	485	S>C		No	ClinGen TOPMed
rs901211323 CA272887464	485	S>F		No	ClinGen TOPMed
CA393213647 rs1382097566	487	T>S		No	ClinGen gnomAD
CA7630033 rs748813231	488	S>L		No	ClinGen ExAC TOPMed gnomAD
CA272887470 rs763135049	489	P>L		No	ClinGen gnomAD
rs537922403 CA7630034	491	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393213730 rs1225271200	494	G>V		No	ClinGen TOPMed
rs760481112 CA272888759	500	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7630052 rs760481112	500	H>R		No	ClinGen ExAC TOPMed gnomAD
CA393213798 rs1323514888	502	A>E		No	ClinGen gnomAD
rs763855414 CA7630053	506	S>P		No	ClinGen ExAC
rs756966062 CA7630055	507	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7630056 rs778533264	507	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1595796021 CA393213828	508	T>P		No	ClinGen Ensembl
rs1259721578 CA393213837	509	P>L		No	ClinGen gnomAD
rs755539001 CA7630058	510	S>G		No	ClinGen ExAC gnomAD
TCGA novel	510	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393213845 rs1237124601	511	L>I		No	ClinGen TOPMed
CA7630059 rs781484386	511	L>P		No	ClinGen ExAC gnomAD
rs1243691175 CA393213872	514	V>I		No	ClinGen TOPMed gnomAD
rs770199974 CA7630061	516	T>A		No	ClinGen ExAC gnomAD
CA393213911 rs1367432283	516	T>I		No	ClinGen gnomAD
rs1462149442 CA393213958	521	T>I		No	ClinGen gnomAD
rs1595796065 CA393213954	521	T>P		No	ClinGen Ensembl
CA393213987 rs1398495979	526	D>H		No	ClinGen gnomAD
CA393213998 rs1000747383	527	Y>C		No	ClinGen gnomAD
CA272888784 rs1000747383	527	Y>F		No	ClinGen gnomAD
rs1337884864 CA393214011	529	H>P		No	ClinGen gnomAD
CA393214016 rs749548641	530	P>A		No	ClinGen ExAC gnomAD
CA7630063 rs749548641	530	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1327144999 COSM964336 CA393214081	539	D>N	endometrium Variant assessed as Somatic; 4.648e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA393214098 rs1171756552	541	Q>E		No	ClinGen TOPMed
rs1203901667 CA393214154	547	P>A		No	ClinGen TOPMed
CA393214156 rs1224417734	547	P>L		No	ClinGen gnomAD
CA272889637 rs867766517	554	Q>K		No	ClinGen Ensembl
CA272890861 rs776598900	557	N>S		No	ClinGen ExAC gnomAD
CA7630092 rs776598900	557	N>T		No	ClinGen ExAC gnomAD
CA393214250 rs1354310776	559	S>T		No	ClinGen TOPMed gnomAD
rs765285434	559	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1283228253 CA393214265	561	L>F		No	ClinGen gnomAD
rs1283228253 CA393214263	561	L>I		No	ClinGen gnomAD
rs772795429 CA7630096	561	L>R		No	ClinGen ExAC gnomAD
CA393214268 rs1248107686	562	A>T		No	ClinGen gnomAD
CA7630098 rs765842964	563	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1442066865 CA393214289	565	A>G		No	ClinGen gnomAD
CA393214290 rs1442066865	565	A>V		No	ClinGen gnomAD
rs1295413922 CA393214321	570	D>E		No	ClinGen TOPMed
CA7630101 rs764549842	571	D>G		No	ClinGen ExAC gnomAD
CA393214323 rs1462002785	571	D>N		No	ClinGen TOPMed
TCGA novel	573	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757911092 CA393214347	574	L>F		No	ClinGen gnomAD
CA272890871 rs757911092	574	L>V		No	ClinGen gnomAD
rs868762124 CA272890874	576	H>N		No	ClinGen gnomAD
rs779324980 CA7630104	576	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs757509151 CA7630103	576	H>R		No	ClinGen ExAC gnomAD
rs868762124 CA393214357	576	H>Y		No	ClinGen gnomAD
CA393214366 rs1375442542	577	S>L		No	ClinGen TOPMed gnomAD
rs1307023570 CA393214363	577	S>P		No	ClinGen gnomAD
rs780330514 CA7630107	579	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA393214374 rs986381593	579	R>W		No	ClinGen TOPMed
TCGA novel	581	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	581	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768719323 CA7630109	582	P>L		No	ClinGen ExAC gnomAD
rs1195025432 CA393214395	582	P>S		No	ClinGen TOPMed
TCGA novel	583	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393214439 rs1238104551	588	M>I		No	ClinGen gnomAD
CA7630111 rs748102470	588	M>V		No	ClinGen ExAC gnomAD
TCGA novel	597	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393214499 rs1411780725	597	G>S		No	ClinGen gnomAD
rs762557878 CA7630114	598	S>T		No	ClinGen ExAC gnomAD
CA393214517 rs1197305436	600	S>A		No	ClinGen TOPMed
rs1197305436 CA393214518	600	S>P		No	ClinGen TOPMed
CA393214531 rs1252276805	602	P>L		No	ClinGen TOPMed
rs765970681 CA7630115	603	T>A		No	ClinGen ExAC gnomAD
rs765970681 CA393214533	603	T>P		No	ClinGen ExAC gnomAD
rs909498968 CA272890886	604	T>A		No	ClinGen gnomAD
CA7630117 rs758983899	604	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7630119 rs754402427	605	N>S		No	ClinGen ExAC gnomAD
CA7630118 rs764601417	605	N>Y		No	ClinGen ExAC gnomAD
CA7630120 rs757777994	609	S>N		No	ClinGen ExAC gnomAD
rs1376395208 CA393214590	611	S>R		No	ClinGen gnomAD
CA393214602 rs1278452140	613	S>N		No	ClinGen gnomAD
CA393214624 rs1197136578	616	V>A		No	ClinGen TOPMed gnomAD
rs1197136578 CA393214625	616	V>G		No	ClinGen TOPMed gnomAD
rs750778840 CA7630122	617	S>F		No	ClinGen ExAC TOPMed gnomAD
CA393214631 rs1595802229	618	S>P		No	ClinGen Ensembl
CA7630123 rs758578512	619	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1443474714 CA393214639	619	N>Y		No	ClinGen gnomAD
rs973758073 CA272890902	621	L>Q		No	ClinGen gnomAD
CA272890905 rs80349946	623	E>K		No	ClinGen Ensembl
rs755165692 CA7630126	624	S>N		No	ClinGen ExAC
rs1426056417 CA393214681	625	H>R		No	ClinGen gnomAD
rs75583804 CA272890910	628	T>S		No	ClinGen Ensembl
CA7630128 rs549689177	629	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393214714 rs1395571828	630	T>I		No	ClinGen gnomAD
CA393214718 rs1336113046	631	N>D		No	ClinGen gnomAD
rs1291377193 CA393214725	632	R>G		No	ClinGen TOPMed gnomAD
CA7630130 rs777448223	633	S>G		No	ClinGen ExAC gnomAD
CA7630131 rs749073506	635	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7630133 rs773939264	637	T>M		No	ClinGen ExAC TOPMed gnomAD
CA272890926 rs1802433	639	S>F		No	ClinGen Ensembl
CA272890932 rs1056619168	645	P>S		No	ClinGen Ensembl
rs1441846427 CA393214820	646	D>G		No	ClinGen gnomAD
TCGA novel	646	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765727838 CA393214824	647	I>L		No	ClinGen ExAC gnomAD
TCGA novel	647	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765727838 CA7630138	647	I>V		No	ClinGen ExAC gnomAD

No associated diseases with O75925

3 regional properties for O75925

Type	Name	Position	InterPro Accession
domain	SAP domain	11 - 45	IPR003034
domain	Zinc finger, MIZ-type	320 - 405	IPR004181
domain	PINIT domain	124 - 288	IPR023321

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus speckle Nucleus, PML body Cytoplasm, cytoskeleton	Interaction with CSRP2 may induce a partial redistribution along the cytoskeleton (PubMed:11672422) Interaction with MSX1 is required for localization to the nuclear periphery (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.

9 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).
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
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).

8 GO annotations of biological process

Name	Definition
fat cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat.
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.
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
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.
receptor signaling pathway via JAK-STAT	Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

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
Q8N2W9	PIAS4	E3 SUMO-protein ligase PIAS4	Homo sapiens (Human)	PR

10	20	30	40	50	60
MADSAELKQM	VMSLRVSELQ	VLLGYAGRNK	HGRKHELLTK	ALHLLKAGCS	PAVQMKIKEL
70	80	90	100	110	120
YRRRFPQKIM	TPADLSIPNV	HSSPMPATLS	PSTIPQLTYD	GHPASSPLLP	VSLLGPKHEL
130	140	150	160	170	180
ELPHLTSALH	PVHPDIKLQK	LPFYDLLDEL	IKPTSLASDN	SQRFRETCFA	FALTPQQVQQ
190	200	210	220	230	240
ISSSMDISGT	KCDFTVQVQL	RFCLSETSCP	QEDHFPPNLC	VKVNTKPCSL	PGYLPPTKNG
250	260	270	280	290	300
VEPKRPSRPI	NITSLVRLST	TVPNTIVVSW	TAEIGRNYSM	AVYLVKQLSS	TVLLQRLRAK
310	320	330	340	350	360
GIRNPDHSRA	LIKEKLTADP	DSEIATTSLR	VSLLCPLGKM	RLTIPCRALT	CSHLQCFDAT
370	380	390	400	410	420
LYIQMNEKKP	TWVCPVCDKK	APYEHLIIDG	LFMEILKYCT	DCDEIQFKED	GTWAPMRSKK
430	440	450	460	470	480
EVQEVSASYN	GVDGCLSSTL	EHQVASHHQS	SNKNKKVEVI	DLTIDSSSDE	EEEEPSAKRT
490	500	510	520	530	540
CPSLSPTSPL	NNKGILSLPH	QASPVSRTPS	LPAVDTSYIN	TSLIQDYRHP	FHMTPMPYDL
550	560	570	580	590	600
QGLDFFPFLS	GDNQHYNTSL	LAAAAAAVSD	DQDLLHSSRF	FPYTSSQMFL	DQLSAGGSTS
610	620	630	640	650
LPTTNGSSSG	SNSSLVSSNS	LRESHSHTVT	NRSSTDTASI	FGIIPDIISL	D