AiPD: Autoinhibited Protein Database

Q9NRR5

Gene name	UBQLN4
Protein name	Ubiquilin-4
Names	Ataxin-1 interacting ubiquitin-like protein, A1Up, Ataxin-1 ubiquitin-like-interacting protein A1U, Connexin43-interacting protein of 75 kDa, CIP75
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56893
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

61-147 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

61-147 (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 Q9NRR5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NRR5-F1	Predicted				AlphaFoldDB

365 variants for Q9NRR5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1465567777 VAR_081427 CA342812473	90	D>A	ALS; impaired proteasome efficiency leading to accumulation of CTNNB1 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
CA30979636 rs890366745	6	G>E		No	ClinGen gnomAD
CA1154268 rs758476685	6	G>R		No	ClinGen ExAC gnomAD
rs890366745 CA342814460	6	G>V		No	ClinGen gnomAD
CA342814457 rs1465853832	7	A>S		No	ClinGen gnomAD
CA30979607 rs993356278	8	E>*		No	ClinGen Ensembl
CA342814445 rs1209914060	9	T>A		No	ClinGen gnomAD
rs764069060 CA1154266	9	T>R		No	ClinGen ExAC TOPMed gnomAD
CA342814437 rs1282619511	10	R>M		No	ClinGen TOPMed gnomAD
CA342814438 rs1282619511	10	R>T		No	ClinGen TOPMed gnomAD
CA342814424 rs1357366480	12	P>L		No	ClinGen gnomAD
CA1154264 rs755871973	16	T>I		No	ClinGen ExAC gnomAD
CA1154263 rs752453589	20	P>R		No	ClinGen ExAC TOPMed gnomAD
rs767326644 CA1154262	21	K>R		No	ClinGen ExAC gnomAD
rs1386314835 CA342814364	22	D>G		No	ClinGen gnomAD
CA1154260 rs773882741	23	K>N		No	ClinGen ExAC TOPMed gnomAD
rs200410841 CA1154261	23	K>R		No	ClinGen ExAC TOPMed gnomAD
CA30979555 rs1037456992	27	V>L		No	ClinGen TOPMed gnomAD
CA342814305 rs1037456992	27	V>M		No	ClinGen TOPMed gnomAD
rs1303403310 CA342814284	28	I>M		No	ClinGen TOPMed
rs765905860 CA342814286	28	I>S		No	ClinGen ExAC gnomAD
rs765905860 CA1154259	28	I>T		No	ClinGen ExAC gnomAD
CA342814252 rs149317680	31	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1154257 rs773829337	31	R>Q		No	ClinGen ExAC gnomAD
CA342814228 rs770459405	32	A>G		No	ClinGen ExAC TOPMed gnomAD
rs770459405 CA1154256	32	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1444305145 CA342814219	33	S>A		No	ClinGen TOPMed gnomAD
rs762441546 CA1154255	33	S>L		No	ClinGen ExAC gnomAD
rs1444305145 CA342814222	33	S>P		No	ClinGen TOPMed gnomAD
rs768914927 CA1154253	34	V>I		No	ClinGen ExAC gnomAD
TCGA novel	36	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342813474 rs1404508095	37	F>L		No	ClinGen TOPMed
rs369842697 CA1154234	43	R>L		No	ClinGen ESP ExAC gnomAD
CA1154233 rs369842697	43	R>Q		No	ClinGen ESP ExAC gnomAD
rs769053520 CA1154235	43	R>W		No	ClinGen ExAC gnomAD
CA342813393 rs1241876438	45	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1484183695 CA342813324	50	D>G		No	ClinGen gnomAD
rs772144716 CA1154232	53	V>L		No	ClinGen ExAC gnomAD
rs746116021 CA1154231	57	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746116021 CA342813260	57	A>T		No	ClinGen ExAC TOPMed gnomAD
CA342813133 rs1297270579	62	K>R		No	ClinGen TOPMed
CA1154227 rs150592320	69	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs757542069 COSM424107 CA1154225	71	G>R	endometrium Variant assessed as Somatic; 4.62e-05 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA342812922 rs1572282229	72	I>M		No	ClinGen Ensembl
CA1154223 COSM3385253 rs757938654	75	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764551389 CA1154218	85	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1154217 rs761275690	86	Q>R		No	ClinGen ExAC gnomAD
CA1154216 rs775669010	87	K>R		No	ClinGen ExAC gnomAD
rs1398667544 CA342812513	88	A>G		No	ClinGen TOPMed
rs768434487 CA342812496	89	Q>P		No	ClinGen ExAC gnomAD
CA1154209 rs768434487	89	Q>R		No	ClinGen ExAC gnomAD
CA342812432 rs1335314156	94	A>T		No	ClinGen gnomAD
rs1452002162 CA342812426	95	T>P		No	ClinGen gnomAD
CA30978027 rs868021254	96	A>T		No	ClinGen TOPMed gnomAD
CA1154206 rs758271259	97	S>A		No	ClinGen ExAC gnomAD
rs745509360 CA342812385	98	S>F		No	ClinGen ExAC gnomAD
CA1154205 rs745509360	98	S>Y		No	ClinGen ExAC gnomAD
CA342812373 rs1482958319	99	P>A		No	ClinGen TOPMed gnomAD
CA342812369 rs1385500005	99	P>H		No	ClinGen TOPMed
rs1241270575	100	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1154202 rs753359131	102	P>L		No	ClinGen ExAC gnomAD
CA1154203 rs756798351	102	P>S		No	ClinGen ExAC gnomAD
rs556901269 CA30977976	103	D>A		No	ClinGen 1000Genomes
rs763682613 CA1154201	103	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1276394707 CA342812241	105	A>V		No	ClinGen TOPMed
rs1323193145 CA342812229	106	S>L		No	ClinGen gnomAD
CA1154200 rs149037353	107	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	108	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342812184 rs1572281686	110	T>P		No	ClinGen Ensembl
rs370250053 CA1154197	111	T>M		No	ClinGen ESP ExAC gnomAD
rs370250053 CA1154198	111	T>R		No	ClinGen ESP ExAC gnomAD
rs1207876785 CA342812160	112	P>S		No	ClinGen TOPMed
CA342812152 rs1389973668	113	A>P		No	ClinGen gnomAD
CA342812143 rs1572281639	114	S>P		No	ClinGen Ensembl
CA30977874 COSM3934133 rs867106433	116	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1154193 rs773113893	117	T>I		No	ClinGen ExAC gnomAD
CA342812107 rs1572281617	117	T>P		No	ClinGen Ensembl
rs1558091151 CA342812073	118	P>L		No	ClinGen Ensembl
rs1477243791 CA342812046	120	Q>R		No	ClinGen TOPMed
rs1171986770 CA342812031	121	P>L		No	ClinGen TOPMed
rs1017544506 CA30977871	123	T>P		No	ClinGen Ensembl
rs769929542 CA1154192	126	S>G		No	ClinGen ExAC gnomAD
CA1154191 rs746854698	127	A>V		No	ClinGen ExAC
rs775562211 CA1154190	129	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1203223105 CA342811906	130	D>A		No	ClinGen gnomAD
CA342811916 rs1247308216	130	D>N		No	ClinGen gnomAD
CA1154189 rs771977978	131	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1265743411 CA342811885	132	G>S		No	ClinGen gnomAD
CA342811874 rs1220395428	132	G>V		No	ClinGen gnomAD
CA342811851 rs1356767697	134	G>R		No	ClinGen gnomAD
rs141021730 CA1154187 COSM897102	136	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs745699214 CA1154188	136	R>W		No	ClinGen ExAC TOPMed gnomAD
rs552911248 CA342811778	138	S>R		No	ClinGen ExAC TOPMed gnomAD
CA342811767 rs1295474711	139	S>N		No	ClinGen gnomAD
TCGA novel	141	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748983695 CA1154185	141	G>W		No	ClinGen ExAC gnomAD
rs1294424104 CA342811720	142	G>E		No	ClinGen gnomAD
TCGA novel	143	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1154184 rs777084755	143	P>S		No	ClinGen ExAC
rs1339915408 CA342811694	144	S>F		No	ClinGen TOPMed
CA30977809 rs1052018568	145	P>L		No	ClinGen TOPMed gnomAD
CA1154182 rs753133370	146	G>A		No	ClinGen ExAC gnomAD
CA342811668 rs753133370	146	G>V		No	ClinGen ExAC gnomAD
rs1434779711 CA342811658	147	A>D		No	ClinGen gnomAD
CA30977747 rs755301551	147	A>P		No	ClinGen ExAC TOPMed gnomAD
rs755301551 CA1154180	147	A>T		No	ClinGen ExAC TOPMed gnomAD
rs751878827 CA342811640	148	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1154179 rs751878827	148	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	149	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342811561 rs1202947812	153	S>R		No	ClinGen TOPMed gnomAD
CA342811567 rs1489746039	153	S>T		No	ClinGen gnomAD
CA30977723 rs142253322	154	A>T		No	ClinGen ESP TOPMed
rs1276312186 COSM897101 CA342811522	156	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1340834162 CA342811493	158	I>M		No	ClinGen gnomAD
TCGA novel	162	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1154159 rs139303285	163	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA342811364 rs1572280802	163	G>R		No	ClinGen Ensembl
rs867668055 CA30977102	164	G>D		No	ClinGen Ensembl
rs750595967 CA1154157	167	G>W		No	ClinGen ExAC
rs761974905 CA1154155	174	G>D		No	ClinGen ExAC gnomAD
CA1154151 rs561892970	181	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA30977046 rs968519640	186	Q>*		No	ClinGen TOPMed
CA1154149 rs141620310	187	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA342811049 rs1203600369	187	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA342810990 rs1206059403	191	S>C		No	ClinGen gnomAD
rs772711862 CA1154148	198	Q>H		No	ClinGen ExAC gnomAD
rs1572280666 CA342810880	200	M>V		No	ClinGen Ensembl
rs780619793 CA1154145	204	L>P		No	ClinGen ExAC gnomAD
CA30977017 rs777116059	205	V>I		No	ClinGen gnomAD
CA342810739 rs1390692235	209	M>R		No	ClinGen gnomAD
rs1321022137 CA342810688	213	D>Y		No	ClinGen gnomAD
COSM675681 CA342810645 rs1475703751	216	R>C	lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs747510135 CA1154143	216	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	220	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1154142 rs780595634	223	P>T		No	ClinGen ExAC gnomAD
CA342810556 rs1181173171	224	Q>H		No	ClinGen gnomAD
TCGA novel	226	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750760423 CA1154140	229	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1163796902 CA342810510	230	E>G		No	ClinGen TOPMed
rs779168949 CA342810505	231	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1154139 rs779168949	231	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1194418768 CA342810499	232	N>S		No	ClinGen TOPMed gnomAD
rs1282508708 CA342810470	236	S>N		No	ClinGen gnomAD
CA342810447 CA342810444 rs1211868957	238	M>L		No	ClinGen TOPMed gnomAD
TCGA novel	239	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342810428 rs1378870741	239	L>I		No	ClinGen TOPMed
CA342810414 rs1291169361	240	N>D		No	ClinGen gnomAD
CA30976959 rs900717516	242	P>S		No	ClinGen TOPMed
rs754118015 CA1154137	247	Q>H		No	ClinGen ExAC gnomAD
rs1480960031 CA342809847	252	A>S		No	ClinGen gnomAD
rs1197543238 CA342809841	253	R>Q		No	ClinGen TOPMed gnomAD
CA342809843 rs1428937342	253	R>W		No	ClinGen gnomAD
CA1154111 rs761653086	256	A>P		No	ClinGen ExAC gnomAD
rs952586278 CA30975678	257	M>V		No	ClinGen TOPMed gnomAD
CA30975670 rs897836586	261	M>I		No	ClinGen TOPMed
CA342809735 rs1371679587	263	R>Q		No	ClinGen TOPMed
rs1402092988 CA342809738	263	R>W		No	ClinGen gnomAD
TCGA novel	264	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343971634 CA342809717	265	Q>E		No	ClinGen gnomAD
rs572186243 CA30975648	265	Q>P		No	ClinGen 1000Genomes TOPMed
CA342809693 rs1436061244	267	R>G		No	ClinGen gnomAD
CA1154109 rs763776681	268	A>D		No	ClinGen ExAC TOPMed gnomAD
CA342809679 rs763776681	268	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1154108 rs760351039	269	L>P		No	ClinGen ExAC gnomAD
rs771488654 CA1154106	275	I>V		No	ClinGen ExAC gnomAD
CA1154105 rs746383533	279	Y>C		No	ClinGen ExAC gnomAD
CA1154103 rs771307070	280	N>S		No	ClinGen ExAC gnomAD
CA1154102 rs749714724	283	R>C		No	ClinGen ExAC gnomAD
CA1154101 rs374330338	283	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs150541894 CA1154100	284	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1429053650 CA342809511	284	R>H		No	ClinGen gnomAD
rs1174678247 CA342809495	286	Y>N		No	ClinGen gnomAD
rs748390449 CA1154099	287	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1154096 rs370666039	293	M>L		No	ClinGen ESP ExAC gnomAD
rs778763474 CA1154095	295	S>G		No	ClinGen ExAC TOPMed gnomAD
CA342809369 rs757015731	297	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1154094 rs757015731	297	A>T		No	ClinGen ExAC TOPMed gnomAD
RCV000970168 COSM1231602 rs143327773 CA1154092	298	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1559932 rs753589235 CA1154093	298	R>W	large_intestine Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA342808847 rs1164473936	301	F>Y		No	ClinGen TOPMed
CA342808829 rs1259862881	303	N>S		No	ClinGen gnomAD
CA1154083 rs770283478	305	P>T		No	ClinGen ExAC gnomAD
rs1323106252 CA342808799	306	F>L		No	ClinGen gnomAD
rs1572274691 CA342808790	306	F>L		No	ClinGen Ensembl
rs748373975 CA1154082	309	L>P		No	ClinGen ExAC gnomAD
CA1154081 rs781324941	310	A>S		No	ClinGen ExAC gnomAD
rs1384349054 CA342808735	312	N>K		No	ClinGen gnomAD
CA30972757 rs866895527	312	N>S		No	ClinGen Ensembl
CA342808739 rs866895527	312	N>T		No	ClinGen Ensembl
rs747097659 CA1154079	314	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1154078 rs149230633	315	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1572274639 CA342808686	317	S>P		No	ClinGen Ensembl
CA1154076 rs540413582	318	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1154077 rs757136565	318	S>P		No	ClinGen ExAC gnomAD
CA30972683 rs895802954	319	Q>H		No	ClinGen TOPMed
rs1293117256 CA342808643	321	L>P		No	ClinGen TOPMed
rs554671640 CA30972668	322	R>Q		No	ClinGen 1000Genomes
CA342808594 rs1247305996	326	R>G		No	ClinGen TOPMed
CA30972660 rs1001713114	326	R>Q		No	ClinGen TOPMed gnomAD
VAR_081428	326	R>del	probable disease-associated variant found in patients with UBQLN4 deficiency syndrome (UBDS) [UniProt]	No	UniProt
TCGA novel	328	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1154071 rs759268789	334	S>R		No	ClinGen ExAC gnomAD
rs750987845 CA1154070	335	P>L		No	ClinGen ExAC gnomAD
rs1269138994 CA342808491	335	P>S		No	ClinGen gnomAD
rs765996825 CA1154069	336	S>L		No	ClinGen ExAC gnomAD
rs773919483 CA1154067	337	P>S		No	ClinGen ExAC TOPMed gnomAD
CA342808457 rs1295367493	339	T>A		No	ClinGen gnomAD
TCGA novel	339	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295367493 CA342808459	339	T>P		No	ClinGen gnomAD
CA1154065 rs762132440	342	A>T		No	ClinGen ExAC gnomAD
rs776879454 CA1154064	343	P>T		No	ClinGen ExAC gnomAD
CA1154061 rs780042975	344	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA30972596 rs747277099 CA1154062	344	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749212002 CA342808389	346	G>C		No	ClinGen ExAC gnomAD
COSM1231601 CA1154059 rs749212002	346	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1154058 rs372315146	348	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1154057 rs368377276	350	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA342808345 rs1429645664	350	T>I		No	ClinGen gnomAD
CA1154056 rs569189476	351	G>R	Variant assessed as Somatic; 4.968e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs781067157 CA1154055	353	S>L		No	ClinGen ExAC TOPMed gnomAD
CA342808305 rs1572274421	355	T>P		No	ClinGen Ensembl
TCGA novel	356	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1154053 rs751224949	357	Q>L		No	ClinGen ExAC gnomAD
rs147895250 CA1154052 CA1154051	358	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147895250 CA30972542	358	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750940741 CA1154050	359	H>P		No	ClinGen ExAC gnomAD
CA1154049 rs765884220	360	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342808246 rs765884220	360	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA342808248 rs765884220	360	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1343830764 CA342808217	363	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1001108747 CA30972493	369	N>S		No	ClinGen Ensembl
rs1392023564 CA342808140	370	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1572274326 CA342808115	373	L>P		No	ClinGen Ensembl
rs1572274321 CA342808101	375	S>A		No	ClinGen Ensembl
rs188794605 CA1154029	377	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1154028 rs540406381	378	F>L		No	ClinGen ExAC TOPMed
rs910877741 CA30971686	379	N>T		No	ClinGen Ensembl
rs1184861931 CA342807722	388	Q>L		No	ClinGen gnomAD
rs1184861931 CA342807726	388	Q>R		No	ClinGen gnomAD
CA1154026 rs767688742	391	S>F		No	ClinGen ExAC gnomAD
CA342807600 rs1472847506	393	N>S		No	ClinGen TOPMed
rs771051617 CA1154023	397	M>I		No	ClinGen ExAC gnomAD
CA1154024 rs774359915	397	M>V		No	ClinGen ExAC gnomAD
TCGA novel	398	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	399	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342807282 rs1350172405	406	M>I		No	ClinGen gnomAD
rs776684845 CA1154021	407	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1154020 rs567234095	407	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342807264 rs1299158528	408	S>R		No	ClinGen TOPMed
CA1154019 CA1154018 rs549129522	410	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs537042853 CA1154017	412	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA342807109 rs1327995162	414	A>S		No	ClinGen gnomAD
rs745527783 CA1154016	416	N>S		No	ClinGen ExAC gnomAD
rs752890732 CA1154014	418	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	419	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	422	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342806719 rs1422238861	427	V>A		No	ClinGen gnomAD
TCGA novel	428	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342806678 rs1201881367	431	A>T		No	ClinGen TOPMed gnomAD
CA1153996 rs770317400	431	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342806654 rs1572272750	433	N>T		No	ClinGen Ensembl
rs748793541 CA1153995	434	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1359700413 CA342806631	435	Q>L		No	ClinGen TOPMed
CA1153994 rs777172741	436	L>M		No	ClinGen ExAC gnomAD
CA342806624 rs1572272730	436	L>R		No	ClinGen Ensembl
rs768752076 CA30971188	438	E>D		No	ClinGen Ensembl
rs1290281777 CA342806594	439	Q>*		No	ClinGen TOPMed
rs1195087701 CA342806590	439	Q>P		No	ClinGen gnomAD
CA342806579 rs1572272707	440	L>P		No	ClinGen Ensembl
rs753210115 CA1153992	441	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1284905343 CA342806572	441	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1153988 rs766661490	449	Q>H		No	ClinGen ExAC gnomAD
rs1028032490 CA30971046	451	M>L		No	ClinGen gnomAD
CA342806437 rs1028032490	451	M>V		No	ClinGen gnomAD
CA342806418 rs1572272489	453	N>T		No	ClinGen Ensembl
CA1153971 rs780302307	457	L>F		No	ClinGen ExAC gnomAD
CA30971024 rs200607865	459	I>T		No	ClinGen 1000Genomes
rs1572272463 CA342806369	461	T>P		No	ClinGen Ensembl
rs750614382 CA1153969	464	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1463591970 CA342806334	466	M>I		No	ClinGen TOPMed
CA342806336 rs1402617832	466	M>T		No	ClinGen gnomAD
TCGA novel	476	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330146501 CA342806261	477	Q>*		No	ClinGen TOPMed
CA342806259 rs1558086558	477	Q>R		No	ClinGen Ensembl
rs1176657612 CA342806250	478	T>I		No	ClinGen gnomAD
rs757461582 CA1153967	480	Q>*		No	ClinGen ExAC gnomAD
rs146278362 CA30970990	484	P>S		No	ClinGen ESP
CA342806210 rs1382094185	485	G>R		No	ClinGen gnomAD
CA1153965 rs200524315	487	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA1153964 rs759570817	488	P>A		No	ClinGen ExAC gnomAD
rs141984749 CA1153963	488	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1291805255 CA342806165	490	L>R		No	ClinGen gnomAD
rs1321609762 CA342806164	491	G>S		No	ClinGen gnomAD
CA342806154 rs1216673118	492	S>C		No	ClinGen gnomAD
rs1216673118 CA342806155	492	S>F		No	ClinGen gnomAD
rs2297792 VAR_052685 CA1153952 RCV000833624	495	I>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1153953 rs758756204	495	I>V		No	ClinGen ExAC TOPMed gnomAD
rs753922617 CA1153950	497	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753922617 CA1153949	497	R>Q	Variant assessed as Somatic; 0.0001076 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs373721715 COSM1722902 CA1153951	497	R>W	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA342806115 rs1366624498	499	P>L		No	ClinGen gnomAD
rs561552921 CA1153947	499	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs62001918 CA1153946	501	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1428894354 CA342806083	502	S>L		No	ClinGen gnomAD
CA342806091 rs1558086401	502	S>P		No	ClinGen Ensembl
CA342806076 rs1422572614	503	A>S		No	ClinGen TOPMed gnomAD
rs766179199 CA1153945	503	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342806056 rs1558086384	504	G>D		No	ClinGen Ensembl
CA342806066 rs1161020443	504	G>S		No	ClinGen TOPMed
rs750050793 CA1153943	507	A>T		No	ClinGen ExAC TOPMed gnomAD
CA30970754 rs530933582	508	G>E		No	ClinGen 1000Genomes
CA30970751 rs530933582	508	G>V		No	ClinGen 1000Genomes
CA1153942 rs764832350	509	S>F		No	ClinGen ExAC gnomAD
rs761478186 CA1153941	510	T>M		No	ClinGen ExAC TOPMed gnomAD
rs150725767 COSM1722901 CA1153938	512	E>K	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1277911096 CA342805912	513	A>T		No	ClinGen TOPMed gnomAD
rs772451548 CA1153935	515	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1153933 rs746178512	515	T>I		No	ClinGen ExAC gnomAD
CA342805862 rs772451548	515	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1153932 rs779441917	516	S>C		No	ClinGen ExAC gnomAD
CA342805826 rs1388577884	517	S>P		No	ClinGen gnomAD
CA342805803 rs1399308902	518	P>L		No	ClinGen gnomAD
rs1462388197 CA342805815	518	P>T		No	ClinGen gnomAD
CA1153929 rs371953742	520	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1153930 rs749523592	520	T>P		No	ClinGen ExAC gnomAD
rs1293592160 CA342805772	521	P>S		No	ClinGen TOPMed
CA342805763 rs1572271924	522	A>V		No	ClinGen Ensembl
rs758395621 CA1153925	526	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750172276 CA1153923	527	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA30970607 rs201431809	527	T>R		No	ClinGen 1000Genomes
rs1197120926 CA342805688	528	G>R		No	ClinGen gnomAD
TCGA novel	529	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1153922 rs765033224	531	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA342805625 rs1232726348	532	A>T		No	ClinGen gnomAD
TCGA novel	533	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342805571 rs1329432759	535	Q>*		No	ClinGen gnomAD
CA342805546 rs1445724758	537	M>V		No	ClinGen TOPMed
rs1558086231 CA342805527	538	Q>E		No	ClinGen Ensembl
CA342805501 rs1391932847	539	Q>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1385832746 CA342805478	542	Q>R		No	ClinGen TOPMed gnomAD
CA342805471 rs1470828831	543	L>P		No	ClinGen gnomAD
CA342805474 rs1329117487	543	L>V		No	ClinGen gnomAD
rs1419464270 CA342805452	545	A>T		No	ClinGen TOPMed
CA30970559 COSM106883 rs142507985	548	G>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1153918 rs760152448	551	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1153903 rs753467833	552	V>M		No	ClinGen ExAC
CA1153901 rs200073398	554	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342819932 rs1468301293	557	V>L		No	ClinGen TOPMed
CA1153898 rs199954432	560	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA30994724 rs374930061	561	Q>E		No	ClinGen ESP
rs1283908724 CA342819789	562	Q>K		No	ClinGen gnomAD
rs775053458 CA1153897	565	Q>R		No	ClinGen ExAC gnomAD
rs766824603 CA1153896	567	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1153895 rs763446941	567	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1288626174 CA342819584	572	I>V		No	ClinGen TOPMed gnomAD
CA1153894 rs773660903	573	N>H		No	ClinGen ExAC gnomAD
CA1153893 rs769863790	574	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1153891 rs776511401	574	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1153892 rs776511401	574	R>P		No	ClinGen ExAC TOPMed gnomAD
CA342819396 rs1411764602	584	T>A		No	ClinGen TOPMed
CA342819270 rs1392225555	592	I>V		No	ClinGen TOPMed
CA342819255 rs1460691589	593	E>K		No	ClinGen TOPMed
rs1194679535 CA342819236	594	R>G		No	ClinGen gnomAD
CA342819190 rs1477593952	597	G>D		No	ClinGen gnomAD
CA1153884 rs755653731	601	S>A		No	ClinGen ExAC gnomAD

2 associated diseases with Q9NRR5

[MIM: 105400]: Amyotrophic lateral sclerosis (ALS)

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:28463112}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:28463112}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

6 regional properties for Q9NRR5

Type	Name	Position	InterPro Accession
domain	Ubiquitin-like domain	13 - 87	IPR000626
domain	Heat shock chaperonin-binding	192 - 229	IPR006636-1
domain	Heat shock chaperonin-binding	230 - 261	IPR006636-2
domain	Heat shock chaperonin-binding	393 - 440	IPR006636-3
domain	Heat shock chaperonin-binding	444 - 476	IPR006636-4
domain	Ubiquitin-associated domain	553 - 598	IPR015940

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Chromosome Endoplasmic reticulum Cytoplasm, perinuclear region Cytoplasmic vesicle, autophagosome	Colocalizes with the proteasome, both in nucleus and cytoplasm (PubMed:15280365) Exported from the nucleus following interaction with DESI1/POST (PubMed:29666234) In response to DNA damage and phosphorylation at Ser-318 by ATM, localizes to the nucleus and is recruited to sites of DNA damage (PubMed:30612738)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
site of DNA damage	A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

3 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
K48-linked polyubiquitin modification-dependent protein binding	Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 48 in the target protein.
polyubiquitin modification-dependent protein binding	Binding to a protein upon poly-ubiquitination of the target protein.

7 GO annotations of biological process

Name	Definition
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
negative regulation of autophagosome maturation	Any process that stops, prevents or reduces the frequency, rate or extent of autophagosome maturation.
negative regulation of double-strand break repair via homologous recombination	Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination.
regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that modulates 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.
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.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14DL0	Ubqlnl	Ubiquilin-like protein	Mus musculus (Mouse)	PR
Q5XIP4	Ubqlnl	Ubiquilin-like protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAEPSGAETR	PPIRVTVKTP	KDKEEIVICD	RASVKEFKEE	ISRRFKAQQD	QLVLIFAGKI
70	80	90	100	110	120
LKDGDTLNQH	GIKDGLTVHL	VIKTPQKAQD	PAAATASSPS	TPDPASAPST	TPASPATPAQ
130	140	150	160	170	180
PSTSGSASSD	AGSGSRRSSG	GGPSPGAGEG	SPSATASILS	GFGGILGLGS	LGLGSANFME
190	200	210	220	230	240
LQQQMQRQLM	SNPEMLSQIM	ENPLVQDMMS	NPDLMRHMIM	ANPQMQQLME	RNPEISHMLN
250	260	270	280	290	300
NPELMRQTME	LARNPAMMQE	MMRNQDRALS	NLESIPGGYN	ALRRMYTDIQ	EPMFSAAREQ
310	320	330	340	350	360
FGNNPFSSLA	GNSDSSSSQP	LRTENREPLP	NPWSPSPPTS	QAPGSGGEGT	GGSGTSQVHP
370	380	390	400	410	420
TVSNPFGINA	ASLGSGMFNS	PEMQALLQQI	SENPQLMQNV	ISAPYMRSMM	QTLAQNPDFA
430	440	450	460	470	480
AQMMVNVPLF	AGNPQLQEQL	RLQLPVFLQQ	MQNPESLSIL	TNPRAMQALL	QIQQGLQTLQ
490	500	510	520	530	540
TEAPGLVPSL	GSFGISRTPA	PSAGSNAGST	PEAPTSSPAT	PATSSPTGAS	SAQQQLMQQM
550	560	570	580	590	600
IQLLAGSGNS	QVQTPEVRFQ	QQLEQLNSMG	FINREANLQA	LIATGGDINA	AIERLLGSQL

S