AiPD: Autoinhibited Protein Database

O43242

Gene name	PSMD3
Protein name	26S proteasome non-ATPase regulatory subunit 3
Names	26S proteasome regulatory subunit RPN3, 26S proteasome regulatory subunit S3, Proteasome subunit p58
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5709
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-82 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-82 (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

53 structures for O43242

Entry ID	Method	Resolution	Chain	Position	Source
5GJQ	EM	450 A	S	1-534	PDB
5GJR	EM	350 A	6/S	1-525	PDB
5L4K	EM	450 A	S	1-534	PDB
5LN3	EM	680 A	S	1-534	PDB
5M32	EM	380 A	j	1-534	PDB
5T0C	EM	380 A	AV/BV	2-534	PDB
5T0G	EM	440 A	V	2-534	PDB
5T0H	EM	680 A	V	2-534	PDB
5T0I	EM	800 A	V	2-534	PDB
5T0J	EM	800 A	V	2-534	PDB
5VFP	EM	420 A	V	18-497	PDB
5VFQ	EM	420 A	V	18-497	PDB
5VFR	EM	490 A	V	18-497	PDB
5VFS	EM	360 A	V	18-497	PDB
5VFT	EM	700 A	V	18-497	PDB
5VFU	EM	580 A	V	18-497	PDB
5VGZ	EM	370 A	V	18-505	PDB
5VHF	EM	570 A	V	323-505	PDB
5VHH	EM	610 A	V	18-505	PDB
5VHI	EM	680 A	V	18-505	PDB
5VHS	EM	880 A	V	18-505	PDB
6MSB	EM	300 A	V	1-534	PDB
6MSD	EM	320 A	V	1-534	PDB
6MSE	EM	330 A	D	314-523	PDB
6MSG	EM	350 A	V	2-534	PDB
6MSH	EM	360 A	V	2-534	PDB
6MSJ	EM	330 A	V	2-534	PDB
6MSK	EM	320 A	V	2-534	PDB
6WJD	EM	480 A	V	1-534	PDB
6WJN	EM	570 A	V	18-497	PDB
7QXN	EM	370 A	V	2-534	PDB
7QXP	EM	360 A	V	2-534	PDB
7QXU	EM	430 A	V	2-534	PDB
7QXW	EM	410 A	V	2-534	PDB
7QXX	EM	440 A	V	2-534	PDB
7QY7	EM	470 A	V	2-534	PDB
7QYA	EM	480 A	V	2-534	PDB
7QYB	EM	410 A	V	2-534	PDB
7W37	EM	300 A	V	1-534	PDB
7W38	EM	310 A	V	1-534	PDB
7W39	EM	320 A	V	1-534	PDB
7W3A	EM	350 A	V	1-534	PDB
7W3B	EM	360 A	V	1-534	PDB
7W3C	EM	340 A	V	1-534	PDB
7W3F	EM	330 A	V	1-534	PDB
7W3G	EM	320 A	V	1-534	PDB
7W3H	EM	320 A	V	1-534	PDB
7W3I	EM	350 A	V	1-534	PDB
7W3J	EM	350 A	V	1-534	PDB
7W3K	EM	360 A	V	1-534	PDB
7W3M	EM	350 A	V	1-534	PDB
8CVT	EM	300 A	V	1-534	PDB
AF-O43242-F1	Predicted				AlphaFoldDB

342 variants for O43242

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1265648201 CA399290282	3	Q>R		No	ClinGen gnomAD
CA8537210 rs777524330	5	G>S		No	ClinGen ExAC TOPMed gnomAD
rs778475635 CA8537212	7	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1251720271 CA399290440	9	R>C		No	ClinGen gnomAD
rs1418966190 CA399290457	9	R>L		No	ClinGen TOPMed gnomAD
rs1598310332 CA399290500	11	G>S		No	ClinGen Ensembl
CA8537213 rs747664284	12	A>P		No	ClinGen ExAC
TCGA novel	12	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462085206 CA399290558	13	D>E		No	ClinGen gnomAD
CA8537214 rs771728091	14	K>R		No	ClinGen ExAC gnomAD
CA8537215 rs772878941	15	A>G		No	ClinGen ExAC gnomAD
rs772878941 CA399290639	15	A>V		No	ClinGen ExAC gnomAD
CA8537216 rs746753908	17	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1212621140 CA399290715	18	P>L		No	ClinGen gnomAD
CA290476619 rs1017366967	19	P>S		No	ClinGen Ensembl
rs770723577 CA8537217	20	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1390715567 CA399290763	21	G>E		No	ClinGen gnomAD
rs1433081437 CA399290746	21	G>R		No	ClinGen TOPMed
CA399290792 rs1423764245	23	E>K		No	ClinGen TOPMed
rs994688297 CA290476625	24	Q>E		No	ClinGen TOPMed gnomAD
rs1356813799 CA399290828	24	Q>R		No	ClinGen TOPMed gnomAD
CA399290870 rs1319502409	26	P>H		No	ClinGen gnomAD
CA399290869 rs1292151716	26	P>T		No	ClinGen gnomAD
rs1252220596 CA399290877	27	P>Q		No	ClinGen gnomAD
rs1026627350 CA290476630	28	P>L		No	ClinGen Ensembl
rs1568135017 CA399290932	29	P>L		No	ClinGen Ensembl
rs1458885301 CA399290941	30	P>A		No	ClinGen TOPMed
CA8537220 rs555631976	30	P>L		No	ClinGen ExAC gnomAD
CA290476640 rs555631976	30	P>R		No	ClinGen ExAC gnomAD
CA399290968 rs1490874554	31	A>T		No	ClinGen gnomAD
CA399291198 rs1232317214	38	K>R		No	ClinGen TOPMed
rs1187236821 CA399291232	40	E>K		No	ClinGen gnomAD
CA399291254 rs1411743738	41	A>V		No	ClinGen gnomAD
CA399291288 rs1430477926	44	G>R		No	ClinGen TOPMed gnomAD
rs1474509201 CA399291330	45	G>S		No	ClinGen TOPMed gnomAD
rs11539651 CA290476663	46	G>E		No	ClinGen gnomAD
CA399291373 rs1373404057	46	G>W		No	ClinGen gnomAD
CA399291402 rs1305963736	47	S>A		No	ClinGen gnomAD
CA399291401 rs1305963736	47	S>P		No	ClinGen gnomAD
rs543732649 CA290476670	48	T>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs543732649 CA399291420	48	T>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA290476685 rs970741642	49	G>E		No	ClinGen Ensembl
rs1465903710 CA399291439	49	G>R		No	ClinGen TOPMed
CA399291459 rs1215940571	50	E>D		No	ClinGen gnomAD
rs1598310410 CA399291453	50	E>G		No	ClinGen Ensembl
rs1295922478 CA399291460	51	A>T		No	ClinGen gnomAD
rs1307277983 CA399291465	51	A>V		No	ClinGen gnomAD
CA290476689 rs909405575	54	K>E		No	ClinGen TOPMed
rs1282925329 CA399291559	54	K>N		No	ClinGen TOPMed gnomAD
rs980784817 CA290476694	55	T>M		No	ClinGen TOPMed gnomAD
CA399291605 rs1420474898	56	A>S		No	ClinGen TOPMed
CA399291646 rs1187329844	57	A>E		No	ClinGen gnomAD
rs1447906225 CA399291658	58	A>S		No	ClinGen gnomAD
CA8537229 rs532325371	60	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA399291721 rs1199652718	61	E>D		No	ClinGen TOPMed
CA399291736 rs1482161904	62	H>R		No	ClinGen TOPMed
rs1175336103 CA399291788	64	Q>K		No	ClinGen gnomAD
CA8537231 rs747658814	68	D>N		No	ClinGen ExAC gnomAD
CA399291945 rs1282297802	69	T>P		No	ClinGen TOPMed
TCGA novel	69	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs938324805 CA290476717	71	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	73	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399292053 rs1432475361	74	D>N		No	ClinGen gnomAD
rs1471355001 CA399293395	79	V>M		No	ClinGen gnomAD
CA399293573 rs139823763	84	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8537255 rs756879117	85	A>E		No	ClinGen ExAC gnomAD
rs1356688688 CA399293618	86	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	86	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399293627 rs1261053388	87	S>A		No	ClinGen TOPMed gnomAD
CA399293634 rs1568135983	88	G>C		No	ClinGen Ensembl
CA290478070 rs1036825092	88	G>V		No	ClinGen TOPMed
rs745635464 CA8537257	89	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8537258 rs769489544	90	E>D		No	ClinGen ExAC gnomAD
rs779976440 CA8537259	91	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8537262 rs201112076	93	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208316516 CA399293782	95	L>P		No	ClinGen gnomAD
rs760881387 CA8537263	96	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3937372 CA399293789 rs1287428219	96	R>W	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8537264 rs771147709	97	A>T		No	ClinGen ExAC gnomAD
CA399293835 rs1598311562	98	L>V		No	ClinGen Ensembl
CA399293847 rs1195681762	99	R>Q		No	ClinGen TOPMed gnomAD
rs776745025 CA8537265	99	R>W		No	ClinGen ExAC gnomAD
CA290478075 rs1056285438	100	M>L		No	ClinGen Ensembl
rs1189392508 CA399293864	100	M>T		No	ClinGen gnomAD
rs759883436 CA8537266	101	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	105	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399293966 rs1187643488	105	S>T		No	ClinGen TOPMed
CA8537267 rs765521507	106	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753170559 CA8537268	106	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763435974 CA8537269	107	R>C		No	ClinGen ExAC TOPMed gnomAD
rs143231745 CA8537270	107	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA399294036 rs1307816038	108	L>F		No	ClinGen TOPMed gnomAD
rs373296396 CA8537272	109	N>S		No	ClinGen ESP ExAC gnomAD
rs780840230 CA8537273	110	H>R		No	ClinGen ExAC TOPMed
CA8537274 rs750049404	111	Y>C		No	ClinGen ExAC gnomAD
CA8537275 rs78909252	114	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8537276 rs779703168	116	A>G		No	ClinGen ExAC gnomAD
rs1228000420 CA399294197	116	A>T		No	ClinGen TOPMed
CA8537277 rs749147429	119	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1228779279 CA399294256	119	G>V		No	ClinGen TOPMed gnomAD
rs1339932337 CA399294287	121	F>L		No	ClinGen gnomAD
rs1212990303 CA399294301	121	F>L		No	ClinGen gnomAD
rs1257581159 CA399294320	123	S>L		No	ClinGen gnomAD
rs567691169 CA8537279	126	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747041143 CA8537280	127	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8537281 rs142613700	128	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770109341 CA8537284	133	P>L		No	ClinGen ExAC gnomAD
rs775807136 CA8537285	134	F>L		No	ClinGen ExAC gnomAD
rs1174868332 CA399294474	135	L>R		No	ClinGen gnomAD
CA399294476 rs1383692537	136	E>K		No	ClinGen gnomAD
TCGA novel CA8537286 rs763346628	137	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
TCGA novel	137	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758424249 CA8537299	138	P>A		No	ClinGen ExAC TOPMed gnomAD
rs758424249 CA399294863	138	P>S		No	ClinGen ExAC TOPMed gnomAD
CA399294874 rs1425712896	139	M>T		No	ClinGen TOPMed
CA8537300 rs781115901	139	M>V		No	ClinGen ExAC TOPMed gnomAD
CA399294901 rs1172857117	141	T>R		No	ClinGen TOPMed
CA290479072 rs3969147	142	E>D		No	ClinGen Ensembl
CA8537304 rs775720813	146	Q>H		No	ClinGen ExAC gnomAD
rs1280752700 CA399294981	148	R>C		No	ClinGen TOPMed gnomAD
CA8537305 COSM246843 rs769013958	148	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC
rs1329302070 CA399294991	149	P>A		No	ClinGen gnomAD
rs774765739 CA399294993	149	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8537306 rs774765739	149	P>L		No	ClinGen ExAC TOPMed gnomAD
CA399294995 rs774765739	149	P>R		No	ClinGen ExAC TOPMed gnomAD
CA290479128 rs150993491	150	R>C		No	ClinGen ESP TOPMed
CA8537308 COSM2838491 rs762214384	150	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM3958313 CA8537307 rs762214384	150	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1469536341 CA399295006	151	T>A		No	ClinGen gnomAD
rs772568597 CA8537309	151	T>M		No	ClinGen ExAC gnomAD
rs766083657 CA8537311	152	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA8537312 rs753561731	154	A>G		No	ClinGen ExAC gnomAD
COSM978741 rs777827638 CA8537313	155	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8537315 rs201862777	156	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1396893509 CA399295056	157	T>A		No	ClinGen gnomAD
rs377229346 CA8537317	159	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA290479164 rs201795543	159	L>R		No	ClinGen Ensembl
rs750429026 CA8537318	161	P>S		No	ClinGen ExAC gnomAD
CA8537320 rs780191901	162	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	165	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1035110947 CA290479180	166	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1004189305 CA290479177	166	Y>H		No	ClinGen TOPMed gnomAD
rs749507799 CA8537321	167	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA290479195 rs370395631	168	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138262103 CA290479201	171	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138262103 COSM246844 CA8537324	171	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs772421852 CA8537325	172	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	173	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8537327 rs760050130	173	I>V		No	ClinGen ExAC
CA8537329 rs776343842	179	K>R		No	ClinGen ExAC gnomAD
CA8537330 rs199927905	180	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8537331 rs199927905	180	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142347522 CA8537332	180	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs199529386 CA290479229	181	Y>C		No	ClinGen 1000Genomes
rs1240481909 CA399295323	181	Y>H		No	ClinGen TOPMed
CA399295348 rs1199820195	182	K>T		No	ClinGen TOPMed
CA8537349 rs775232402	187	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8537348 rs769532971	187	I>V		No	ClinGen ExAC TOPMed gnomAD
rs762598187 CA8537350	192	M>T		No	ClinGen ExAC gnomAD
CA8537352 rs200089350	193	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA399296362 rs1448043923	196	S>N		No	ClinGen gnomAD
CA399296382 rs1598313018	197	T>P		No	ClinGen Ensembl
rs1598313021 CA399296430	199	N>T		No	ClinGen Ensembl
CA8537353 rs751368354	200	R>C		No	ClinGen ExAC TOPMed gnomAD
rs921989197 CA290480194	200	R>H		No	ClinGen TOPMed
CA399296462 rs921989197	200	R>L		No	ClinGen TOPMed
CA8537354 rs761714778	201	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753872383 CA8537356	203	L>V		No	ClinGen ExAC gnomAD
CA399296535 rs1598313040	204	D>A		No	ClinGen Ensembl
CA399296563 rs1274658853	205	L>P		No	ClinGen TOPMed
CA399296573 CA399296576 rs1214862116	206	V>L		No	ClinGen TOPMed
rs752964262 CA8537359	208	A>S		No	ClinGen ExAC TOPMed gnomAD
CA399296623 rs752964262	208	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1598313059 CA399296751	213	Y>C		No	ClinGen Ensembl
CA290480218 rs891676913	214	H>Y		No	ClinGen TOPMed
rs998129385 CA290480219	215	A>T		No	ClinGen TOPMed gnomAD
CA399296803 rs1486947609	215	A>V		No	ClinGen gnomAD
rs747385961 CA399296806	216	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8537363 rs139137910	216	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8537362 rs747385961	216	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	217	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs181805133 CA8537366	218	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748956900 CA8537368	226	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1458466769 CA399297085	228	R>C		No	ClinGen gnomAD
rs767947232 CA8537372	228	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399297917 rs1323862689	231	L>S		No	ClinGen TOPMed
rs144777423 CA8537389	233	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8537388 rs144777423	233	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760588390 CA8537391	234	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8537390 rs773053780	234	R>W		No	ClinGen ExAC gnomAD
rs1235414716 CA399297974	236	R>Q		No	ClinGen gnomAD
rs775613009 CA8537393	236	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs916187148 CA290480946	237	T>K		No	ClinGen Ensembl
CA399298012 rs1409626717	239	T>A		No	ClinGen TOPMed
CA8537395 rs148147676	239	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8537397 rs762202542	241	R>Q		No	ClinGen ExAC gnomAD
CA290480977 rs978391848	241	R>W		No	ClinGen TOPMed gnomAD
CA399298064 rs1410620727	243	D>G		No	ClinGen gnomAD
rs767990057 CA8537398	243	D>N		No	ClinGen ExAC gnomAD
rs199919324 CA8537400	244	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253089757 COSM978743 CA399298110	246	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs753338181 CA8537402	248	A>G		No	ClinGen ExAC gnomAD
TCGA novel	251	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778468446 CA8537404	256	R>Q		No	ClinGen ExAC gnomAD
CA8537403 rs141986603	256	R>W		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA8537407 rs777525514	260	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs370998801 CA8537406	260	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8537408 rs746850055	264	Y>H		No	ClinGen ExAC gnomAD
CA8537409 rs770865343	265	D>N		No	ClinGen ExAC TOPMed gnomAD
CA399298418 rs1344171041	266	Q>E		No	ClinGen gnomAD
rs1568137767 CA399298424	266	Q>R		No	ClinGen Ensembl
CA399298435 rs1205829553	267	A>T		No	ClinGen gnomAD
rs1481819203 CA399298500	271	V>M		No	ClinGen gnomAD
CA399298524 rs1189027694	273	K>E		No	ClinGen gnomAD
rs768624588 CA8537412	275	V>M		No	ClinGen ExAC gnomAD
CA8537413 rs774640764	277	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	278	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399298659 rs762114474	280	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8537414 rs762114474	280	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767891991 CA8537415	280	A>V		No	ClinGen ExAC gnomAD
CA399298679 rs187473049	281	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8537419 rs766849600	285	W>L		No	ClinGen ExAC gnomAD
rs754303432 CA8537420	290	Y>C		No	ClinGen ExAC gnomAD
CA399298935 rs1268758650	294	R>*		No	ClinGen gnomAD
CA8537442 rs757929319	294	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772573135 CA290481276	295	I>V		No	ClinGen TOPMed
CA290481286 rs17855429	304	E>V		No	ClinGen Ensembl
rs139790687 CA8537444	305	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs979049933 CA290481315	305	A>V		No	ClinGen Ensembl
CA399299134 rs1453802133	306	R>G		No	ClinGen gnomAD
rs757003929 CA8537445	306	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	306	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8537446 rs143390511	308	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA399299178 rs1255092379	310	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA399299186 rs1189765855	310	T>I		No	ClinGen TOPMed
CA8537448 rs756075461	311	N>S		No	ClinGen ExAC gnomAD
CA399299203 rs1456944827	312	A>T		No	ClinGen TOPMed gnomAD
COSM978745 rs1319609259 CA399299237	314	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8537451 rs372020193	320	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372020193 CA8537450	320	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399299428 rs1286448538	322	V>F		No	ClinGen TOPMed
CA399299457 rs1330456050	323	G>D		No	ClinGen gnomAD
CA8537453 rs747183511	323	G>S		No	ClinGen ExAC TOPMed gnomAD
CA399299505 rs1221090149	325	K>R		No	ClinGen gnomAD
rs771229403 CA8537454	327	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1175564811 CA399300533	328	V>M		No	ClinGen gnomAD
CA290484914 rs146195859	331	L>F		No	ClinGen ESP gnomAD
rs1000113588 CA290484936	333	I>V		No	ClinGen TOPMed
rs1422639307 CA399300638	334	V>L		No	ClinGen gnomAD
CA399300636 rs1422639307	334	V>M		No	ClinGen gnomAD
rs1170474708 CA399300653	335	V>L		No	ClinGen gnomAD
CA8537489 rs763439998	341	E>G		No	ClinGen ExAC gnomAD
rs769255809 CA8537490	343	P>A		No	ClinGen ExAC TOPMed gnomAD
rs769255809 CA8537491	343	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8537493 rs370358057	344	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8537492 rs761408189	344	D>N		No	ClinGen ExAC gnomAD
rs760468901 CA8537495	345	R>Q		No	ClinGen ExAC gnomAD
CA8537494 rs750093218	345	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766260375 CA8537496	346	L>P		No	ClinGen ExAC gnomAD
CA290484990 rs998056717	346	L>V		No	ClinGen TOPMed
rs1202462943 CA399300877	349	R>C		No	ClinGen gnomAD
CA8537497 rs753732406	349	R>H		No	ClinGen ExAC gnomAD
CA8537499 rs778937668	351	P>L		No	ClinGen ExAC gnomAD
rs201424671 CA8537500	355	R>H		No	ClinGen ExAC TOPMed gnomAD
CA399301075 rs1598315148	358	M>I		No	ClinGen Ensembl
rs1390649332 CA399301060	358	M>L		No	ClinGen gnomAD
rs1381613832 CA399301098	360	Y>C		No	ClinGen TOPMed
CA8537502 rs781207973	365	Q>E		No	ClinGen ExAC gnomAD
CA399301180 rs1449956385	366	A>T		No	ClinGen TOPMed
rs1266196188 CA399301248	366	A>V		No	ClinGen gnomAD
rs748674701 CA8537528	370	G>R		No	ClinGen ExAC
rs374192363 CA8537529	376	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1422605502 CA399301485	381	Q>R		No	ClinGen TOPMed gnomAD
rs772814654 CA8537530	383	G>A		No	ClinGen ExAC gnomAD
rs376686096 CA290485180	384	E>G		No	ClinGen ESP TOPMed
CA8537531 rs746544593	387	Q>E		No	ClinGen ExAC gnomAD
CA8537532 rs62621374	388	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352471614 CA399301590	390	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	392	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	393	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762927208 CA8537537	397	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750462524 CA8537539	399	R>Q		No	ClinGen ExAC gnomAD
CA399301688 rs1221718812	400	H>N		No	ClinGen gnomAD
COSM978747 CA8537541 rs766521376	402	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761804346 CA8537557	406	G>D		No	ClinGen ExAC gnomAD
CA8537558 rs766433096	407	V>I		No	ClinGen ExAC gnomAD
rs1598315311 CA399301886	408	R>P		No	ClinGen Ensembl
CA8537559 rs753913903	409	M>L		No	ClinGen ExAC gnomAD
CA8537560 rs755192717 COSM219215	416	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1334470492 CA399302038	417	I>T		No	ClinGen gnomAD
rs1367218093 CA399302076	419	L>F		No	ClinGen gnomAD
CA399302086 rs1568139435	420	A>G		No	ClinGen Ensembl
rs765405766 CA8537561	420	A>T		No	ClinGen ExAC gnomAD
CA290485359 rs925617617	422	I>V		No	ClinGen TOPMed gnomAD
CA399302123 rs1433149279	423	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1220457713 CA399302164	425	K>R		No	ClinGen TOPMed gnomAD
CA8537563 rs758843411	428	L>V		No	ClinGen ExAC gnomAD
rs1250341122 CA399302314	434	A>T		No	ClinGen gnomAD
TCGA novel rs764572779 CA290485371	436	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA399302399 rs1465729625	438	V>D		No	ClinGen gnomAD
CA8537593 rs779680391	442	I>V		No	ClinGen ExAC gnomAD
rs1402710370 CA399302960	443	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399303073 rs1238716719	450	S>T		No	ClinGen TOPMed gnomAD
CA8537596 rs778646666	451	I>V		No	ClinGen ExAC gnomAD
rs1291114772 CA399303149	454	E>D		No	ClinGen TOPMed gnomAD
CA399303135 rs1223949049	454	E>K		No	ClinGen gnomAD
rs769762281 CA8537601	459	Q>P		No	ClinGen ExAC gnomAD
rs763249659 CA8537603	460	S>T		No	ClinGen ExAC gnomAD
CA8537604 rs372409387	461	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs111511592 CA8537606	464	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751933135 CA8537605	464	I>V		No	ClinGen ExAC gnomAD
CA8537608 rs750899940	466	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8537609 rs756701105	467	Y>C		No	ClinGen ExAC gnomAD
rs1390501527 CA399303347	468	S>C		No	ClinGen gnomAD
CA8537610 rs765783389	469	T>I		No	ClinGen ExAC gnomAD
CA399303427 rs1247181133	474	L>P		No	ClinGen gnomAD
rs754581065 CA8537612	475	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778554601 CA8537613	477	H>Y		No	ClinGen ExAC gnomAD
CA399303488 rs1186000806	478	Q>E		No	ClinGen TOPMed
rs745341061 CA290485933	480	I>T		No	ClinGen Ensembl
rs1288367345 CA399303550	481	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8537616 rs777693949	485	D>G		No	ClinGen ExAC gnomAD
rs1480418933 CA399303611	485	D>N		No	ClinGen gnomAD
CA399303769 rs1446157626	492	K>E		No	ClinGen gnomAD
rs1160311075 CA399303977	493	A>T		No	ClinGen gnomAD
CA399304136 rs1174643819	499	K>E		No	ClinGen TOPMed
CA8537645 rs772377036	499	K>I		No	ClinGen ExAC TOPMed gnomAD
CA8537646 rs772377036	499	K>R		No	ClinGen ExAC TOPMed gnomAD
rs766734676 CA8537648	500	S>L		No	ClinGen ExAC gnomAD
rs1184538016 CA399304202	502	N>S		No	ClinGen TOPMed
rs1438912008 CA399304343	509	E>K		No	ClinGen TOPMed
rs1267078812 CA399304459	510	E>Q		No	ClinGen TOPMed gnomAD
CA399304478 rs1479823789	511	R>L		No	ClinGen gnomAD
COSM978752 rs1479095083 CA399304475	511	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399304491 rs1215381552	512	R>H		No	ClinGen TOPMed
CA8537677 COSM472710 rs761441485	520	E>Q	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA290486702 rs866629806	522	A>V		No	ClinGen Ensembl
CA399304848 rs1421814702	527	E>D		No	ClinGen gnomAD
rs750281059 CA8537679	531	D>G		No	ClinGen ExAC gnomAD
rs1355542716 CA399304938	531	D>H		No	ClinGen TOPMed
rs867037338 CA399305025	534	P>H		No	ClinGen gnomAD
CA290486727 rs867037338	534	P>L		No	ClinGen gnomAD

No associated diseases with O43242

2 regional properties for O43242

Type	Name	Position	InterPro Accession
domain	Proteasome component (PCI) domain	286 - 483	IPR000717
domain	26S proteasome regulatory subunit, C-terminal	465 - 531	IPR013586

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
proteasome accessory complex	A protein complex, that caps one or both ends of the proteasome core complex and regulates entry into, or exit from, the proteasome core complex.
proteasome complex	A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core.
proteasome regulatory particle, lid subcomplex	The subcomplex of the proteasome regulatory particle that forms the peripheral lid, which is added on top of the base subcomplex.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.

1 GO annotations of molecular function

Name	Definition
enzyme regulator activity	Binds to and modulates the activity of an enzyme.

3 GO annotations of biological process

Name	Definition
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in 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.
regulation of protein catabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P40016	RPN3	26S proteasome regulatory subunit RPN3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q2KJ46	PSMD3	26S proteasome non-ATPase regulatory subunit 3	Bos taurus (Bovine)	PR
P14685	Psmd3	26S proteasome non-ATPase regulatory subunit 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKQEGSARRR	GADKAKPPPG	GGEQEPPPPP	APQDVEMKEE	AATGGGSTGE	ADGKTAAAAA
70	80	90	100	110	120
EHSQRELDTV	TLEDIKEHVK	QLEKAVSGKE	PRFVLRALRM	LPSTSRRLNH	YVLYKAVQGF
130	140	150	160	170	180
FTSNNATRDF	LLPFLEEPMD	TEADLQFRPR	TGKAASTPLL	PEVEAYLQLL	VVIFMMNSKR
190	200	210	220	230	240
YKEAQKISDD	LMQKISTQNR	RALDLVAAKC	YYYHARVYEF	LDKLDVVRSF	LHARLRTATL
250	260	270	280	290	300
RHDADGQATL	LNLLLRNYLH	YSLYDQAEKL	VSKSVFPEQA	NNNEWARYLY	YTGRIKAIQL
310	320	330	340	350	360
EYSEARRTMT	NALRKAPQHT	AVGFKQTVHK	LLIVVELLLG	EIPDRLQFRQ	PSLKRSLMPY
370	380	390	400	410	420
FLLTQAVRTG	NLAKFNQVLD	QFGEKFQADG	TYTLIIRLRH	NVIKTGVRMI	SLSYSRISLA
430	440	450	460	470	480
DIAQKLQLDS	PEDAEFIVAK	AIRDGVIEAS	INHEKGYVQS	KEMIDIYSTR	EPQLAFHQRI
490	500	510	520	530
SFCLDIHNMS	VKAMRFPPKS	YNKDLESAEE	RREREQQDLE	FAKEMAEDDD	DSFP