AiPD: Autoinhibited Protein Database

O00303

Gene name	EIF3F
Protein name	Eukaryotic translation initiation factor 3 subunit F
Names	eIF3f, Deubiquitinating enzyme eIF3f, Eukaryotic translation initiation factor 3 subunit 5, eIF-3-epsilon, eIF3 p47
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8665
EC number	3.4.19.12: Omega peptidases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

11-80 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

11-80 (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

13 structures for O00303

Entry ID	Method	Resolution	Chain	Position	Source
3J8B	EM	-	F	1-257	PDB
3J8C	EM	-	F	1-257	PDB
6YBD	EM	330 A	4	1-357	PDB
6ZMW	EM	370 A	4	1-357	PDB
6ZON	EM	300 A	F	1-357	PDB
6ZP4	EM	290 A	F	1-357	PDB
6ZVJ	EM	380 A	F	89-357	PDB
7A09	EM	350 A	F	1-357	PDB
7QP6	EM	470 A	4	1-357	PDB
7QP7	EM	370 A	4	1-357	PDB
8OZ0	EM	350 A	6	1-357	PDB
8PPL	EM	265 A	I4	1-357	PDB
AF-O00303-F1	Predicted				AlphaFoldDB

315 variants for O00303

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001256069 rs1423611756 CA379576314	88	G>D	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA379577268 RCV001270450 rs1185010700	224	P>L	Intellectual developmental disorder, autosomal recessive 67 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA5870630 rs141976414 RCV001266159 RCV001092696 RCV002464306 VAR_081783 RCV000754608 RCV002279509 RCV001255370	232	F>V	Intellectual disability Intellectual developmental disorder, autosomal recessive 67 Neurodevelopmental disorder Inborn genetic diseases Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MRT67; decreased protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001329752 CA5870714 rs772380740	303	T>I	Intellectual developmental disorder, autosomal recessive 67 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770212034 CA379575876	2	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1435743058 CA379575872	2	A>T		No	ClinGen gnomAD
rs770212034 CA5870355	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1274545707 CA379575881	3	T>I		No	ClinGen TOPMed gnomAD
rs763177140 CA5870357	3	T>S		No	ClinGen ExAC gnomAD
CA5870360 rs367735033	4	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5870361 rs767716913	4	P>L		No	ClinGen ExAC TOPMed gnomAD
CA379575883 rs767716913	4	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5870359 rs367735033	4	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756899150 CA5870363	5	A>P		No	ClinGen ExAC TOPMed gnomAD
CA379575889 rs1249307465	5	A>V		No	ClinGen TOPMed gnomAD
rs749911888 CA5870365	6	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5870366 rs749911888	6	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1035815286 CA217448164	7	P>L		No	ClinGen TOPMed gnomAD
rs200048982 CA5870367	7	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200048982 CA5870368	7	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA379575903 rs1418463010	8	V>G		No	ClinGen gnomAD
rs1457675211 CA379575899	8	V>L		No	ClinGen TOPMed gnomAD
rs200315934 CA217448182	10	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA379575912 rs748001646	10	A>P		No	ClinGen ExAC TOPMed gnomAD
rs748001646 CA5870372	10	A>S		No	ClinGen ExAC TOPMed gnomAD
rs748001646 CA5870371	10	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5870373 rs200315934	10	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299127052 CA379575917	11	P>L		No	ClinGen TOPMed
rs770848871 CA5870375	11	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770848871 CA217448207	11	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5870377 rs61734576	12	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774504825 CA5870376	12	P>S		No	ClinGen ExAC gnomAD
CA5870378 rs546711035	13	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353638614 CA379575928	14	T>A		No	ClinGen gnomAD
rs144895933 CA5870380	14	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379575933 rs1452923914	15	P>A		No	ClinGen gnomAD
CA379575934 rs1452923914	15	P>S		No	ClinGen gnomAD
rs1589902576 CA379575938	16	T>P		No	ClinGen Ensembl
CA379575944 rs750034387	17	P>A		No	ClinGen ExAC TOPMed gnomAD
rs758048186 CA379575947	17	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758048186 CA5870383	17	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs758048186 CA379575946	17	P>R		No	ClinGen ExAC TOPMed gnomAD
CA379575945 rs750034387	17	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5870382 rs750034387	17	P>T		No	ClinGen ExAC TOPMed gnomAD
rs765746768 CA5870384	18	V>A		No	ClinGen ExAC gnomAD
CA5870387 rs781243485	19	P>L		No	ClinGen ExAC gnomAD
CA5870386 rs139608264	19	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1246570403 CA379575962	20	A>V		No	ClinGen TOPMed
rs748122436 CA5870388	21	A>V		No	ClinGen ExAC gnomAD
rs1222929296 CA379575970	22	A>D		No	ClinGen TOPMed
CA5870389 rs755934469	22	A>P		No	ClinGen ExAC gnomAD
CA379575977 rs1350236568	23	P>L		No	ClinGen TOPMed gnomAD
rs777715143 CA5870393	23	P>S		No	ClinGen ExAC gnomAD
CA5870395 rs771243784	24	A>T		No	ClinGen ExAC TOPMed gnomAD
CA379575981 rs1339164749	24	A>V		No	ClinGen gnomAD
CA5870397 rs745998594	26	V>A		No	ClinGen ExAC gnomAD
CA5870396 rs778853342	26	V>L		No	ClinGen ExAC gnomAD
CA379575997 rs1202573687	27	P>L		No	ClinGen TOPMed gnomAD
CA5870398 rs772436208	27	P>S		No	ClinGen ExAC gnomAD
rs1038981151 CA217448299	28	A>P		No	ClinGen TOPMed
CA217448305 rs1038981151	28	A>S		No	ClinGen TOPMed
rs1273557037 CA379576001	28	A>V		No	ClinGen gnomAD
rs1184013737 CA379576002	29	P>T		No	ClinGen gnomAD
CA5870400 rs376569697	30	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376569697 CA5870401	30	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379576019 rs1188207153	32	A>T		No	ClinGen TOPMed gnomAD
rs1589902652 CA379576023	32	A>V		No	ClinGen Ensembl
rs946429530 CA217448359	33	P>L		No	ClinGen TOPMed gnomAD
CA379576028 rs946429530	33	P>R		No	ClinGen TOPMed gnomAD
CA217448378 rs11538182	34	A>S		No	ClinGen Ensembl
rs1426685962 CA379576032	34	A>V		No	ClinGen gnomAD
rs113790013 CA217448386	35	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1472616218 CA379576034	35	A>T		No	ClinGen gnomAD
rs113790013 CA5870405	35	A>V		No	ClinGen ExAC TOPMed gnomAD
rs766098895 CA5870407	36	A>V		No	ClinGen ExAC gnomAD
CA5870408 rs569582445	37	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379576047 rs1413048865	37	P>R		No	ClinGen TOPMed
VAR_029267 CA5870409 rs1043738	39	P>L		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA379576056 rs1400554883	39	P>S		No	ClinGen gnomAD
CA5870411 rs752615692	40	A>V		No	ClinGen ExAC TOPMed gnomAD
rs757388352 CA5870415	44	A>G		No	ClinGen ExAC TOPMed gnomAD
CA379576084 rs1206224048	44	A>T		No	ClinGen gnomAD
CA5870416 rs757388352	44	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201444896 CA5870418	45	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5870417 rs746100232	45	S>P		No	ClinGen ExAC TOPMed gnomAD
CA379576094 rs534364559	46	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5870419 rs534364559	46	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379576091 rs1311304161	46	S>P		No	ClinGen TOPMed
rs776953347 CA5870422	48	D>E		No	ClinGen ExAC gnomAD
CA5870424 rs770082012	49	P>L		No	ClinGen ExAC gnomAD
rs762290700 CA5870423	49	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1465913875 CA379576117	50	A>V		No	ClinGen TOPMed gnomAD
rs1408869615 CA379576121	51	A>G		No	ClinGen gnomAD
rs774019277 CA5870426	51	A>T		No	ClinGen ExAC gnomAD
rs767078108 CA5870428	53	A>S		No	ClinGen ExAC
rs1589902762 CA379576133	53	A>V		No	ClinGen Ensembl
rs1410134784 CA379576139	54	A>V		No	ClinGen TOPMed
CA5870430 rs760687210	55	A>G		No	ClinGen ExAC gnomAD
CA379576144 rs760687210	55	A>V		No	ClinGen ExAC gnomAD
CA5870431 rs764166155	56	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5870432 rs553134625	56	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA379576146 rs764166155	56	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1311381889 CA379576149	57	A>T		No	ClinGen gnomAD
CA5870433 rs757028511	58	A>T		No	ClinGen ExAC TOPMed gnomAD
CA217448565 rs1013010131	58	A>V		No	ClinGen Ensembl
CA5870436 rs750588982	59	P>A		No	ClinGen ExAC TOPMed gnomAD
rs780091744 CA5870437	59	P>L		No	ClinGen ExAC gnomAD
rs750588982 CA5870435	59	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1486268430 CA379576164	60	G>S		No	ClinGen gnomAD
CA217448618 rs1023195454	62	T>I		No	ClinGen TOPMed gnomAD
rs1023195454 CA379576179	62	T>N		No	ClinGen TOPMed gnomAD
CA379576187 rs1432836829	64	A>T		No	ClinGen gnomAD
CA5870439 rs755458882	64	A>V		No	ClinGen ExAC TOPMed gnomAD
CA379576197 rs1456086846	65	S>L		No	ClinGen gnomAD
CA217448659 rs780199714	66	A>T		No	ClinGen Ensembl
CA5870442 rs748638890	66	A>V		No	ClinGen ExAC gnomAD
CA5870445 rs773463834	68	A>T		No	ClinGen ExAC gnomAD
CA379576212 rs1291290419	68	A>V		No	ClinGen gnomAD
rs1254391906 CA379576216	69	P>A		No	ClinGen TOPMed
rs1387013807 CA379576220	69	P>L		No	ClinGen gnomAD
CA379576221 rs1326863894	70	A>T		No	ClinGen gnomAD
CA217448740 rs1026730373	71	Q>K		No	ClinGen Ensembl
rs1318663885 CA379576235	72	T>A		No	ClinGen gnomAD
CA217448749 rs995172032	72	T>I		No	ClinGen TOPMed
CA5870451 rs776590320	73	P>L		No	ClinGen ExAC gnomAD
rs763718390 CA5870450	73	P>S		No	ClinGen ExAC gnomAD
CA217448756 rs753948836	74	A>P		No	ClinGen Ensembl
rs765020257 CA5870453	75	P>T		No	ClinGen ExAC gnomAD
CA5870456 rs200904167	76	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5870455 rs758611755	76	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1162033416 CA379576259	77	L>Q		No	ClinGen gnomAD
rs1402964982 CA379576258	77	L>V		No	ClinGen TOPMed gnomAD
CA5870457 rs200229110	78	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1304633457 CA379576267	79	G>S		No	ClinGen gnomAD
rs755015234 CA379576273	80	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5870458 rs755015234	80	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5870459 rs781140148	81	A>G		No	ClinGen ExAC TOPMed gnomAD
rs917646916 CA217448795	81	A>S		No	ClinGen TOPMed
CA5870460 rs748631927	82	L>F		No	ClinGen ExAC gnomAD
rs749656019 CA5870463	83	P>L		No	ClinGen ExAC gnomAD
rs756637809 CA5870461	83	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5870462 rs756637809	83	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5870468 rs369481212	86	F>L		No	ClinGen ExAC gnomAD
rs776014443 CA5870469	87	P>A		No	ClinGen ExAC gnomAD
rs761792741 CA5870470	87	P>L		No	ClinGen ExAC TOPMed gnomAD
rs143020927 CA5870471	88	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs143020927 CA5870472	88	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs762690954 CA5870473	89	G>D		No	ClinGen ExAC TOPMed gnomAD
CA379576333 rs1444777685	91	V>G		No	ClinGen gnomAD
rs1171169335 CA379576334	92	V>I		No	ClinGen gnomAD
rs1042095845 CA217448917	100	A>V		No	ClinGen TOPMed gnomAD
rs1445698015 CA379576396	101	S>F		No	ClinGen gnomAD
CA379576393 rs1466159715	101	S>T		No	ClinGen TOPMed
CA217448922 rs923605739	102	I>T		No	ClinGen Ensembl
rs1397438289 CA379576420	105	S>N		No	ClinGen gnomAD
CA379576429 rs1220465839	106	Y>C		No	ClinGen TOPMed
CA379576433 rs1317274155	107	E>K		No	ClinGen gnomAD
rs1340246916 CA379576450	109	R>C		No	ClinGen gnomAD
rs754416494 CA5870481	110	N>I		No	ClinGen ExAC TOPMed gnomAD
CA379576458 rs754416494	110	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5870482 rs757654224	111	E>D		No	ClinGen ExAC gnomAD
CA379576485 rs1363341387	114	A>V		No	ClinGen TOPMed
CA379576493 rs1435939777	116	V>F		No	ClinGen TOPMed
rs1161260633 CA379576559	125	D>N		No	ClinGen TOPMed
CA5870510 rs777282455	126	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1188965458 CA379576588	129	V>M		No	ClinGen TOPMed
rs749214047 CA5870511	132	T>A		No	ClinGen ExAC gnomAD
CA5870513 rs375570333	133	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1179923883 CA379576653	138	P>L		No	ClinGen gnomAD
rs1454267670 CA379576663	140	N>D		No	ClinGen gnomAD
rs1286710812 CA379576666	140	N>S		No	ClinGen TOPMed
rs775532203 CA5870516	142	S>*		No	ClinGen ExAC gnomAD
rs1028523774 CA217452477	144	D>G		No	ClinGen TOPMed
CA5870537 rs769062706	149	D>A		No	ClinGen ExAC gnomAD
rs776817370 CA5870538	149	D>E		No	ClinGen ExAC gnomAD
CA217452827 rs781580386	155	N>S		No	ClinGen Ensembl
CA5870539 rs762030714	157	Y>C		No	ClinGen ExAC gnomAD
CA379576812 rs1480868799	159	L>M		No	ClinGen gnomAD
CA379576826 rs1197476051	161	K>E		No	ClinGen TOPMed gnomAD
rs773790677 CA5870541	163	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5870542 rs61734577	165	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61734577 CA5870543	165	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370850293 CA5870544	166	N>D		No	ClinGen ESP ExAC gnomAD
rs1167004834 CA379576879	169	I>L		No	ClinGen TOPMed gnomAD
CA379576878 rs1167004834	169	I>V		No	ClinGen TOPMed gnomAD
rs77396747 CA5870546	170	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379576889 rs1564886449	171	G>R		No	ClinGen Ensembl
CA217452869 rs1044058 VAR_014452	172	W>L		No	ClinGen UniProt Ensembl dbSNP
rs950500853 CA217453568	174	A>T		No	ClinGen Ensembl
CA217453573 rs987401450	175	T>A		No	ClinGen Ensembl
rs376154162 CA5870579	175	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5870581 rs760042710	177	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1439848095 CA379576985	183	S>C		No	ClinGen TOPMed
CA217453601 rs896832401	184	V>M		No	ClinGen TOPMed
CA217453602 rs943057377	186	I>M		No	ClinGen Ensembl
rs1284974926 CA379577031	190	Y>C		No	ClinGen gnomAD
rs1564886676 CA379577045	192	R>Q		No	ClinGen Ensembl
rs1223180471 CA379577056	194	A>T		No	ClinGen gnomAD
rs761446402 CA5870584	195	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5870586 rs749877936	198	I>L		No	ClinGen ExAC TOPMed gnomAD
CA379577082 rs749877936	198	I>V		No	ClinGen ExAC TOPMed gnomAD
CA379577092 rs1289776622	199	H>R		No	ClinGen gnomAD
rs201463294 CA217453680	202	V>G		No	ClinGen TOPMed
CA5870588 rs765836648	202	V>M		No	ClinGen ExAC gnomAD
rs1271531029 CA379577116	203	D>G		No	ClinGen gnomAD
CA379577120 rs1469029793	204	T>A		No	ClinGen gnomAD
CA379577126 rs1177189285	205	S>G		No	ClinGen gnomAD
CA217453685 rs1042086841	209	G>S		No	ClinGen gnomAD
CA217453686 rs906340250	210	R>C		No	ClinGen TOPMed gnomAD
rs906340250 CA379577161	210	R>G		No	ClinGen TOPMed gnomAD
CA5870590 rs371389618	210	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA217453696 rs371389618	210	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781131467 CA5870591	211	M>I		No	ClinGen ExAC gnomAD
CA379577179 rs756387297	213	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5870593 rs756387297	213	I>V		No	ClinGen ExAC TOPMed gnomAD
CA379577203 rs1057510981	216	Y>C		No	ClinGen gnomAD
CA217453705 rs1057510981	216	Y>S		No	ClinGen gnomAD
rs189875301 CA5870595	217	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1589906517 CA379577236	219	T>I		No	ClinGen Ensembl
rs773976539 CA5870623	221	M>V		No	ClinGen ExAC TOPMed gnomAD
rs759072919 CA5870624	223	V>G		No	ClinGen ExAC gnomAD
CA379577295 CA379577294 rs1271107495	228	M>I		No	ClinGen TOPMed gnomAD
rs775504098 CA5870626	229	G>R		No	ClinGen ExAC gnomAD
CA217454923 rs868644022	229	G>V		No	ClinGen Ensembl
CA5870629 rs753640542	231	M>I		No	ClinGen ExAC gnomAD
CA5870628 rs763932999	231	M>K		No	ClinGen ExAC gnomAD
rs760545005 CA5870627	231	M>L		No	ClinGen ExAC gnomAD
CA379577309 rs763932999	231	M>T		No	ClinGen ExAC gnomAD
CA5870631 rs765487803	232	F>L		No	ClinGen ExAC gnomAD
CA5870632 rs750665696	233	T>S		No	ClinGen ExAC gnomAD
rs780110207 CA5870634	234	P>L		No	ClinGen ExAC TOPMed gnomAD
rs372549173 CA5870636	240	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5870637 rs145163086	240	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5870638 rs748512155	242	Y>C		No	ClinGen ExAC gnomAD
rs778672688 CA5870640	243	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1362694685 CA379577389	244	T>A		No	ClinGen gnomAD
rs1283067634 CA379577404	246	R>C		No	ClinGen TOPMed gnomAD
rs201665082 CA5870643	246	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5870642 rs201665082	246	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA217454984 rs201665082	246	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs570574577 CA5870646	247	I>M		No	ClinGen ExAC TOPMed gnomAD
rs760654379 CA5870644	247	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5870647 rs761462188	248	G>R		No	ClinGen ExAC gnomAD
rs1205353165 CA379577415	249	V>I		No	ClinGen TOPMed gnomAD
rs1396349058 CA379577486	252	I>M		No	ClinGen gnomAD
rs200650004 CA5870671	253	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA217455312 rs1056921704	257	F>L		No	ClinGen TOPMed gnomAD
rs1056921704 CA379577536	257	F>V		No	ClinGen TOPMed gnomAD
CA379577565 rs1380003530	260	N>H		No	ClinGen gnomAD
rs567330284 CA5870672	260	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432467824 CA379577587	262	V>L		No	ClinGen TOPMed
CA379577597 rs1387529492	263	I>V		No	ClinGen TOPMed
rs1320639672 CA379577611	264	G>A		No	ClinGen TOPMed
rs1032496529 CA217455318	265	L>P		No	ClinGen Ensembl
CA5870673 rs199991205	267	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5870674 rs759496049	270	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA379577699 rs1240084298	273	G>R		No	ClinGen gnomAD
CA5870676 rs753092228	275	A>T		No	ClinGen ExAC gnomAD
rs1243917036 CA379577734	277	A>T		No	ClinGen gnomAD
CA217455330 rs868162509	277	A>V		No	ClinGen Ensembl
rs756745169 CA5870678	278	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756745169 CA5870677	278	R>G		No	ClinGen ExAC TOPMed gnomAD
CA217455340 rs904105385	278	R>H		No	ClinGen TOPMed
CA379577757 rs1191438704	279	I>M		No	ClinGen gnomAD
rs754291747 CA5870679	280	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA217455357 rs1009667887	281	D>G		No	ClinGen Ensembl
CA217455350 rs1007208285	281	D>N		No	ClinGen TOPMed gnomAD
rs1462925761 CA379577779	282	A>T		No	ClinGen gnomAD
CA5870681 rs376830068	284	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369290417 CA5870682	285	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5870683 rs754378933	287	L>S		No	ClinGen ExAC gnomAD
CA379577827 rs754378933	287	L>W		No	ClinGen ExAC gnomAD
CA5870684 rs780766725	288	Q>E		No	ClinGen ExAC gnomAD
CA5870686 rs374099131	289	Y>H		No	ClinGen ESP ExAC gnomAD
CA379577855 rs1326862887	290	A>T		No	ClinGen gnomAD
rs772971739 CA5870687	291	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5870688 rs776597083	292	D>E		No	ClinGen ExAC TOPMed gnomAD
rs759426288 CA5870689	294	L>M		No	ClinGen ExAC gnomAD
CA217455421 rs759426288	294	L>V		No	ClinGen ExAC gnomAD
rs1370942500 CA379577963	298	V>A		No	ClinGen TOPMed
rs746075840 CA5870713	300	A>P		No	ClinGen ExAC TOPMed gnomAD
CA379577997 rs1301034913	302	N>D		No	ClinGen gnomAD
rs772380740 CA379578011	303	T>S		No	ClinGen ExAC TOPMed gnomAD
rs370553531 CA5870715	306	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs777208072 CA5870718	309	M>I		No	ClinGen ExAC gnomAD
CA5870719 rs770288762	310	S>I		No	ClinGen ExAC gnomAD
CA379578086 rs1290026882	312	V>L		No	ClinGen gnomAD
CA5870720 rs765505343	314	Q>R		No	ClinGen ExAC gnomAD
CA5870722 rs146329203	316	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146329203 CA5870721	316	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs752378099 CA5870724	320	P>A		No	ClinGen ExAC TOPMed gnomAD
CA379578138 rs1256930745	320	P>L		No	ClinGen TOPMed gnomAD
rs752378099 CA217455621	320	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5870726 rs777282500	321	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1441134420 CA379578147	322	D>N		No	ClinGen gnomAD
rs753765986 CA5870727	327	L>P		No	ClinGen ExAC gnomAD
rs778544707 CA5870729	328	N>D		No	ClinGen ExAC gnomAD
rs745721345 CA5870730	329	S>G		No	ClinGen ExAC gnomAD
rs1441436259 CA379578213	331	I>L		No	ClinGen gnomAD
rs1441436259 CA379578214	331	I>V		No	ClinGen gnomAD
CA5870731 rs771782911	332	N>S		No	ClinGen ExAC gnomAD
CA5870762 rs149594374	334	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs149594374 CA379578415	334	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377136418 CA379578432	336	M>I		No	ClinGen gnomAD
rs1198678739 CA379578430	336	M>T		No	ClinGen gnomAD
rs1419366134 CA379578470	342	N>K		No	ClinGen gnomAD
CA5870764 rs767455275	342	N>S		No	ClinGen ExAC TOPMed gnomAD
CA217456124 rs767455275	342	N>T		No	ClinGen ExAC TOPMed gnomAD
CA217456135 rs1010583199	346	S>A		No	ClinGen TOPMed
rs373859618 CA5870765	349	A>V		No	ClinGen ESP ExAC gnomAD
CA5870767 rs751440334	350	L>V		No	ClinGen ExAC gnomAD
rs755228761 CA5870768	351	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379578538 rs1206481880	353	K>E		No	ClinGen gnomAD
CA379578543 rs1277296938	353	K>N		No	ClinGen gnomAD
CA217456168 rs1041602174	356	N>S		No	ClinGen TOPMed

1 associated diseases with O00303

[MIM: 618295]: Intellectual developmental disorder, autosomal recessive 67 (MRT67)

A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRT67 patients manifest seizures and sensorineural hearing loss. {ECO:0000269|PubMed:30409806}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRT67 patients manifest seizures and sensorineural hearing loss. {ECO:0000269|PubMed:30409806}. Note=The disease may be caused by variants affecting the gene represented in this entry.

3 regional properties for O00303

Type	Name	Position	InterPro Accession
domain	JAB1/MPN/MOV34 metalloenzyme domain	89 - 221	IPR000555
domain	Rpn11/EIF3F, C-terminal	244 - 354	IPR024969
domain	MPN domain	92 - 222	IPR037518

Functions

		Description
EC Number	3.4.19.12	Omega peptidases
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
eukaryotic 43S preinitiation complex	A protein complex composed of the 40S ribosomal subunit plus eIF1A, eIF3, and eIF2-GTP-bound methionyl-initiator methionine tRNA.
eukaryotic 48S preinitiation complex	A protein complex composed of the small ribosomal subunit, eIF3, eIF1A, methionyl-initiatior methionine and a capped mRNA. The complex is initially positioned at the 5'-end of the capped mRNA.
eukaryotic translation initiation factor 3 complex	A complex of several polypeptides that plays at least two important roles in protein synthesis: First, eIF3 binds to the 40S ribosome and facilitates loading of the Met-tRNA/eIF2.GTP ternary complex to form the 43S preinitiation complex. Subsequently, eIF3 apparently assists eIF4 in recruiting mRNAs to the 43S complex. The eIF3 complex contains five conserved core subunits, and may contain several additional proteins; the non-core subunits are thought to mediate association of the complex with specific sets of mRNAs.
eukaryotic translation initiation factor 3 complex, eIF3m	An eukaryotic translation initiation factor 3 complex that contains the PCI-domain protein eIF3m.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

5 GO annotations of molecular function

Name	Definition
cysteine-type deubiquitinase activity	An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
identical protein binding	Binding to an identical protein or proteins.
metal-dependent deubiquitinase activity	An metal-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
translation initiation factor activity	Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide.
translation initiation factor binding	Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation.

4 GO annotations of biological process

Name	Definition
formation of cytoplasmic translation initiation complex	Joining of the large subunit, with release of IF2/eIF2 and IF3/eIF3. This leaves the functional ribosome at the AUG, with the methionyl/formyl-methionyl-tRNA positioned at the P site.
IRES-dependent viral translational initiation	Process by which viral mRNA translation is initiated, where a domain in the 5' untranslated region (UTR) of the viral mRNA called an internal ribosome entry site (IRES) binds the host 43S preinitiation complex, circumventing regular cap-dependent translation initiation.
protein deubiquitination	The removal of one or more ubiquitin groups from a protein.
translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7L5N1	COPS6	COP9 signalosome complex subunit 6	Homo sapiens (Human)	PR

10	20	30	40	50	60
MATPAVPVSA	PPATPTPVPA	AAPASVPAPT	PAPAAAPVPA	AAPASSSDPA	AAAAATAAPG
70	80	90	100	110	120
QTPASAQAPA	QTPAPALPGP	ALPGPFPGGR	VVRLHPVILA	SIVDSYERRN	EGAARVIGTL
130	140	150	160	170	180
LGTVDKHSVE	VTNCFSVPHN	ESEDEVAVDM	EFAKNMYELH	KKVSPNELIL	GWYATGHDIT
190	200	210	220	230	240
EHSVLIHEYY	SREAPNPIHL	TVDTSLQNGR	MSIKAYVSTL	MGVPGRTMGV	MFTPLTVKYA
250	260	270	280	290	300
YYDTERIGVD	LIMKTCFSPN	RVIGLSSDLQ	QVGGASARIQ	DALSTVLQYA	EDVLSGKVSA
310	320	330	340	350
DNTVGRFLMS	LVNQVPKIVP	DDFETMLNSN	INDLLMVTYL	ANLTQSQIAL	NEKLVNL