AiPD: Autoinhibited Protein Database

Q92575

Gene name	UBXN4 (KIAA0242, UBXD2, UBXDC1)
Protein name	UBX domain-containing protein 4
Names	Erasin, UBX domain-containing protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23190
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

81-344 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

81-344 (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 Q92575

Entry ID	Method	Resolution	Chain	Position	Source
2KXJ	NMR	-	A	317-397	PDB
AF-Q92575-F1	Predicted				AlphaFoldDB

342 variants for Q92575

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs999443207 CA56609360	2	L>P		No	ClinGen gnomAD
CA56609372 rs11554001	3	W>S		No	ClinGen Ensembl
CA1887068 rs755372224	5	Q>R		No	ClinGen ExAC gnomAD
rs376050878 CA1887069	7	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218761747 CA348585102	8	I>S		No	ClinGen TOPMed gnomAD
CA56609382 rs1032874036	8	I>V		No	ClinGen gnomAD
CA348585189 rs1485235372	10	A>V		No	ClinGen gnomAD
rs756635954 CA1887072	11	A>G		No	ClinGen ExAC gnomAD
rs749297662 CA1887074	15	A>T		No	ClinGen ExAC gnomAD
rs771027886 CA1887075	16	K>Q		No	ClinGen ExAC gnomAD
CA1887076 rs774504420	16	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	16	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1887078 rs768404609	20	A>V		No	ClinGen ExAC TOPMed gnomAD
rs761686220 CA1887081	23	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1887080 rs761686220	23	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	24	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358553969 CA348585570	26	V>L		No	ClinGen gnomAD
CA1887118 rs769446544	29	D>G		No	ClinGen ExAC
rs777778176 CA1887119	32	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs371499434 CA56614147	32	Q>L		No	ClinGen ESP
CA348588005 rs1357762354	33	S>C		No	ClinGen TOPMed
CA1887120 rs181244197	34	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348588020 rs1453962467	36	M>L		No	ClinGen gnomAD
rs1369597936 CA348588032	37	A>D		No	ClinGen gnomAD
CA348588080 rs1343485974	43	D>E		No	ClinGen TOPMed
rs1453701529 CA348588078	43	D>G		No	ClinGen TOPMed
CA348588101 rs1314919970	46	T>R		No	ClinGen gnomAD
rs774434345 CA1887122	48	A>T		No	ClinGen ExAC gnomAD
CA1887124 rs771632258	51	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1887125 rs774979794	51	N>K		No	ClinGen ExAC gnomAD
CA56614199 rs879076641	54	V>I		No	ClinGen Ensembl
rs185396013 CA1887127	59	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1232653844 CA348589481	64	A>T		No	ClinGen TOPMed
rs778944312 CA1887144	65	C>G		No	ClinGen ExAC gnomAD
CA348589499 rs1431651065	65	C>S		No	ClinGen gnomAD
rs1168696628 CA348589517	67	Q>R		No	ClinGen gnomAD
TCGA novel	73	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348589595 rs1416323373	77	V>I		No	ClinGen TOPMed
CA1887168 rs758415800	81	F>L		No	ClinGen ExAC gnomAD
rs1055091031 CA56618588	81	F>S		No	ClinGen Ensembl
rs1242105211 CA348589623	81	F>V		No	ClinGen TOPMed gnomAD
rs779866581 CA1887169	83	I>F		No	ClinGen ExAC TOPMed gnomAD
CA1887170 rs746491845	85	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1161112380 CA348589757	94	A>V		No	ClinGen gnomAD
CA348589802 rs1386598743	98	S>A		No	ClinGen gnomAD
CA1887173 rs747839047	99	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770141033 CA1887174	100	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1243423088 CA348589837	103	V>G		No	ClinGen gnomAD
rs763240559 CA1887176	104	T>I		No	ClinGen ExAC TOPMed gnomAD
rs763240559 CA348589842	104	T>R		No	ClinGen ExAC TOPMed gnomAD
CA56618706 rs373817095	107	H>Q		No	ClinGen ESP TOPMed gnomAD
CA348589868 rs1205846786	108	K>R		No	ClinGen gnomAD
rs138699603 CA1887178	110	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs36021299 CA56619523	112	M>I		No	ClinGen TOPMed
CA348589928 rs1464456832	115	L>P		No	ClinGen gnomAD
CA348589931 rs1299776440	116	K>E		No	ClinGen gnomAD
TCGA novel	117	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1887200 rs772270264	118	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348589946 rs772270264	118	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1887202 rs775765675	120	S>L		No	ClinGen ExAC gnomAD
rs753692595 CA56619535	121	V>I		No	ClinGen gnomAD
rs760848707 CA1887203	122	A>E		No	ClinGen ExAC gnomAD
rs760848707 CA1887204	122	A>V		No	ClinGen ExAC gnomAD
rs754031883 CA1887205	123	N>D		No	ClinGen ExAC gnomAD
rs754031883 CA348589973	123	N>H		No	ClinGen ExAC gnomAD
CA56619549 rs565568715	123	N>S		No	ClinGen 1000Genomes gnomAD
CA348590005 rs370333742	127	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1887206 rs370333742	127	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA348590015 rs1253545818	129	S>G		No	ClinGen gnomAD
rs1044740125 CA56619556	131	V>M		No	ClinGen TOPMed gnomAD
CA1887207 rs766131249	133	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	135	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs532802799 CA1887208	135	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348590058 rs372855836	136	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1887209 rs754966477	136	A>P		No	ClinGen ExAC gnomAD
CA1887210 COSM3116372 rs372855836	136	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	138	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348590067 rs1575316339	138	F>L		No	ClinGen Ensembl
rs1575316341 CA348590069	138	F>S		No	ClinGen Ensembl
rs267598890 CA56619587	139	E>K		No	ClinGen Ensembl
CA1887214 rs748941682	140	P>A		No	ClinGen ExAC gnomAD
CA348590090 rs1327555120	141	N>I		No	ClinGen TOPMed
rs1014100210 CA56619610	143	T>A		No	ClinGen TOPMed gnomAD
CA1887216 rs779209411	144	C>Y		No	ClinGen ExAC gnomAD
rs1024037631 CA56619615	146	N>D		No	ClinGen TOPMed
rs746360462 CA1887217	146	N>T		No	ClinGen ExAC gnomAD
CA1887219 rs776141822	147	S>C		No	ClinGen ExAC gnomAD
CA1887218 rs772646968	147	S>P		No	ClinGen ExAC gnomAD
COSM1752032 rs886965691 CA56619627	148	Q>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs886965691 CA348590152	148	Q>K		No	ClinGen TOPMed gnomAD
rs768669790 CA1887221	150	R>G		No	ClinGen ExAC gnomAD
CA56619634 rs754037788	151	N>K		No	ClinGen Ensembl
COSM1269677 CA56619648 rs964000481	154	L>F	oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1361989353 CA348590222	154	L>P		No	ClinGen gnomAD
rs1175945174 CA348590244	156	E>D		No	ClinGen TOPMed
rs1478622657 CA348590253	157	I>T		No	ClinGen TOPMed
rs539168259 CA56619652	158	P>S		No	ClinGen gnomAD
CA348590267 rs1293091983	159	P>A		No	ClinGen TOPMed
CA348590290 rs1187762108	161	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA56619670 rs1029014982	163	T>I		No	ClinGen Ensembl
rs200237914 CA1887224	164	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA348590339 rs1186482789	166	D>A		No	ClinGen gnomAD
rs576517034 CA56622487	171	G>R		No	ClinGen 1000Genomes
rs947836306 CA56622489	174	A>V		No	ClinGen gnomAD
CA1887242 rs773454967	176	H>P		No	ClinGen ExAC TOPMed gnomAD
CA1887244 rs767347257	179	S>P		No	ClinGen ExAC
CA1887247 rs200158629	180	S>F		No	ClinGen ExAC TOPMed gnomAD
rs367715818 CA56622534	181	Q>R		No	ClinGen ESP TOPMed gnomAD
rs1265001149 CA348590697	184	S>N		No	ClinGen gnomAD
rs1238001474 CA348590700	184	S>R		No	ClinGen gnomAD
TCGA novel	185	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574331506 CA1887248	185	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA56622546 rs906408028	186	C>F		No	ClinGen TOPMed
CA348590718 rs1221070827	187	S>L		No	ClinGen TOPMed
CA348590715 rs1235555971	187	S>P		No	ClinGen gnomAD
rs1288787752 CA348590721	188	D>H		No	ClinGen TOPMed gnomAD
rs1288787752 CA348590720	188	D>N		No	ClinGen TOPMed gnomAD
CA1887249 rs756793508	189	Q>P		No	ClinGen ExAC gnomAD
rs764939189 CA1887250	190	R>T		No	ClinGen ExAC gnomAD
rs1330978466 CA348590744	191	P>L		No	ClinGen TOPMed
CA348590743 rs1412892731	191	P>S		No	ClinGen gnomAD
rs750152164 CA1887251	192	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1887252 rs201063365	193	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747540600 CA1887254	194	D>H		No	ClinGen ExAC gnomAD
rs1357805660 CA348590768	195	L>F		No	ClinGen gnomAD
rs755383608 CA1887255	195	L>P		No	ClinGen ExAC gnomAD
CA348590770 rs755383608	195	L>R		No	ClinGen ExAC gnomAD
CA1887257 rs748140077	196	N>H		No	ClinGen ExAC gnomAD
CA56622609 rs1017091208	196	N>S		No	ClinGen TOPMed gnomAD
rs561544161 CA1887259	198	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561544161 CA1887258	198	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348591085 rs1559542323	203	T>K		No	ClinGen Ensembl
CA56627683 rs999089927	204	K>E		No	ClinGen TOPMed
TCGA novel	206	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348591127 rs1382115120	209	R>K		No	ClinGen gnomAD
rs1245538851 CA348591132	210	R>G		No	ClinGen TOPMed gnomAD
rs1476661301 CA348591156	213	K>E		No	ClinGen gnomAD
CA1887289 rs771080908	213	K>N		No	ClinGen ExAC gnomAD
CA1887291 rs746738297	214	R>K		No	ClinGen ExAC gnomAD
CA1887293 rs776404287	219	Q>E		No	ClinGen ExAC gnomAD
rs1377733547 CA348591265	226	I>V		No	ClinGen TOPMed gnomAD
CA348591277 COSM716758 rs1469010370	227	E>D	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1244373752 CA348591274	227	E>G		No	ClinGen gnomAD
rs979494782 CA56628261	231	T>P		No	ClinGen TOPMed
rs1194335284 CA348591311	232	G>A		No	ClinGen TOPMed
CA1887312 rs754726853	232	G>R		No	ClinGen ExAC gnomAD
rs374650338 CA1887313	233	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1887314 rs747973307	235	M>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348591367 rs1227837738	237	D>E		No	ClinGen TOPMed
CA348591356 rs1254745047	237	D>N		No	ClinGen gnomAD
rs1033887880 CA56628286	239	K>R		No	ClinGen Ensembl
rs369013309 CA1887316	244	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA348591449 rs1206016534	245	E>*		No	ClinGen gnomAD
rs1575321783 CA348591484	248	K>E		No	ClinGen Ensembl
CA348591506 rs1371175056	249	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348591525 rs1442159499	250	M>T		No	ClinGen gnomAD
rs1184985439 CA348591538	251	L>P		No	ClinGen gnomAD
rs992294387 CA56628323	257	E>D		No	ClinGen Ensembl
rs748759954 CA1887318	260	E>D		No	ClinGen ExAC gnomAD
CA348591693 rs1157759220	261	D>E		No	ClinGen gnomAD
rs770614851 CA1887319	262	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1887320 rs376059463	263	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA348591721 rs1173049692	263	A>V		No	ClinGen gnomAD
rs371075349 CA1887321	265	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1006845 CA1887322 rs200340252	267	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA348591766 rs1332520457	267	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA348591770 rs1332520457	267	R>L		No	ClinGen TOPMed gnomAD
CA1887323 rs775866584	268	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1352547776 CA348591778	268	I>V		No	ClinGen TOPMed gnomAD
rs963892062 CA56629774	275	D>N		No	ClinGen TOPMed
rs745382025 CA1887338	276	R>C		No	ClinGen ExAC gnomAD
rs771687405 CA1887339	276	R>H	Variant assessed as Somatic; 0.0002783 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348592330 rs1271968781	277	A>V		No	ClinGen gnomAD
rs1490698747 CA348592345	279	R>G		No	ClinGen gnomAD
TCGA novel	280	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191255731 CA348592368	280	A>S		No	ClinGen TOPMed gnomAD
CA348592374 rs1575322352	280	A>V		No	ClinGen Ensembl
rs760976228 CA1887341	282	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1887342 rs764488642	282	R>H	Variant assessed as Somatic; 9.276e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777088582 CA1887343	283	F>C		No	ClinGen ExAC gnomAD
CA348592421 rs1411365934	284	A>V		No	ClinGen TOPMed
CA348592429 rs376124383	285	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1887344 rs376124383	285	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA348592464 rs1445687666	287	K>E		No	ClinGen TOPMed
rs942875727 CA56629871	288	E>K		No	ClinGen Ensembl
TCGA novel	290	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559542858 CA348592517	290	V>I		No	ClinGen Ensembl
rs1168198409 CA348592539	291	E>G		No	ClinGen gnomAD
CA1887347 rs750454949	293	A>G		No	ClinGen ExAC gnomAD
CA1887348 rs758443920	294	K>R		No	ClinGen ExAC gnomAD
rs1575322381 CA348592597	295	A>T		No	ClinGen Ensembl
CA348592613 rs1360437850	296	A>S		No	ClinGen TOPMed
CA348592618 rs1464319878	297	A>T		No	ClinGen gnomAD
rs751879915 CA1887350	301	K>E		No	ClinGen ExAC gnomAD
CA1887351 rs377345607	303	A>G		No	ClinGen ESP ExAC TOPMed
rs1176094127 CA348592718	303	A>T		No	ClinGen TOPMed
CA348592744 rs1333578568	305	M>V		No	ClinGen gnomAD
rs934983407 CA56629942	307	V>I		No	ClinGen TOPMed
rs777780161 CA1887352	308	K>R		No	ClinGen ExAC gnomAD
CA348592800 rs1366395273	309	R>G		No	ClinGen gnomAD
CA348592861 rs757159961	312	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA1887353 rs753812396	312	Y>F		No	ClinGen ExAC gnomAD
CA1887356 rs745339373	315	E>K		No	ClinGen ExAC gnomAD
rs771500823 CA1887357	316	R>T		No	ClinGen ExAC gnomAD
CA348593970 rs1180726256	318	T>A		No	ClinGen TOPMed
CA1887380 rs779603271	318	T>N		No	ClinGen ExAC gnomAD
rs1180726256 CA348593972	318	T>P		No	ClinGen TOPMed
CA1887381 rs559209921	320	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348593984 rs1208658104	320	A>T		No	ClinGen TOPMed gnomAD
CA1887382 rs559209921	320	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	321	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA56633862 rs998567083	325	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348594038 rs1413395607 COSM1733206	325	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs748501018 CA1887384	326	L>H		No	ClinGen ExAC gnomAD
rs773738586 CA1887386	334	N>S		No	ClinGen ExAC gnomAD
rs763439442 CA1887387	335	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1887388 rs771123596	337	P>L		No	ClinGen ExAC gnomAD
rs1301960643 CA348594147	337	P>S		No	ClinGen gnomAD
rs1032608962 CA56633920	339	D>V		No	ClinGen TOPMed
CA1887389 rs774513849	340	A>V		No	ClinGen ExAC gnomAD
CA1887390 rs759691673	341	P>L		No	ClinGen ExAC
rs1288399503 CA348594189	342	L>V		No	ClinGen gnomAD
CA1887391 rs767807642	351	Q>E		No	ClinGen ExAC gnomAD
CA56636668 rs942948808	353	V>I		No	ClinGen TOPMed gnomAD
rs78061305 CA56636679	354	G>C		No	ClinGen Ensembl
TCGA novel	355	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs555489242 CA348594406	357	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373377908 CA348594409	358	G>D		No	ClinGen ESP TOPMed
rs772327359 CA1887412	358	G>S		No	ClinGen ExAC TOPMed gnomAD
rs373377908 CA56636700	358	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs1451697788 CA348594415	359	N>S		No	ClinGen TOPMed
TCGA novel	359	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1887413 rs775749941	360	F>L		No	ClinGen ExAC gnomAD
rs1249264657 CA348594431	361	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348594436 rs1489155240	362	L>*		No	ClinGen TOPMed gnomAD
TCGA novel	363	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274890409 CA348594446	364	T>A		No	ClinGen TOPMed
rs765065325 CA1887415	364	T>N		No	ClinGen ExAC gnomAD
CA1887416 rs573673269	365	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1887418 rs201678614	370	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754457755 CA1887420	373	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA1887421 rs767005553	373	K>R		No	ClinGen ExAC TOPMed gnomAD
CA348594515 rs1575324738	374	E>A		No	ClinGen Ensembl
rs755667672 CA1887423	374	E>D		No	ClinGen ExAC gnomAD
rs752383892 CA1887422	374	E>K		No	ClinGen ExAC gnomAD
rs1228859070 CA348594539	377	K>R		No	ClinGen gnomAD
TCGA novel	378	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	379	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348594566 rs1341693245	381	L>M		No	ClinGen gnomAD
CA1887425 rs749572241	384	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	386	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757715263 CA1887426	388	S>G		No	ClinGen ExAC TOPMed gnomAD
CA348594619 rs746417500	389	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1887428 rs746417500	389	A>T		No	ClinGen ExAC TOPMed gnomAD
CA56636818 rs772272444	390	S>*		No	ClinGen ExAC TOPMed gnomAD
CA1887429 rs772272444	390	S>L		No	ClinGen ExAC TOPMed gnomAD
rs747119614 CA1887431	391	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1404172530 CA348594653	395	P>R		No	ClinGen gnomAD
rs776934857 CA1887433	395	P>T		No	ClinGen ExAC TOPMed gnomAD
rs748440304 CA1887455	400	T>I		No	ClinGen ExAC gnomAD
CA348595270 rs1397494548	400	T>P		No	ClinGen gnomAD
CA348595296 rs1341282191	401	A>P		No	ClinGen gnomAD
CA1887456 rs770703087	402	S>P		No	ClinGen ExAC gnomAD
rs1291481402 CA348595321	403	I>V		No	ClinGen gnomAD
CA348595341 rs1226867680	404	V>E		No	ClinGen TOPMed
CA348595353 rs1267976139	405	H>Q		No	ClinGen gnomAD
CA1887457 rs774077724	405	H>R		No	ClinGen ExAC gnomAD
CA348595348 rs1352359829	405	H>Y		No	ClinGen gnomAD
TCGA novel	407	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA56638205 rs760744049	407	S>Y		No	ClinGen Ensembl
CA348595378 rs1349064852	408	S>I		No	ClinGen gnomAD
rs370373832 CA1887459	409	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370373832 CA1887460	409	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348595395 rs1448462745	410	D>H		No	ClinGen TOPMed
rs763700558 CA1887462	413	T>A		No	ClinGen ExAC gnomAD
CA348595447 rs1364389892	414	L>F		No	ClinGen TOPMed
CA1887465 rs764993875	416	G>A		No	ClinGen ExAC gnomAD
TCGA novel	416	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348595481 rs1559544656	419	L>F		No	ClinGen Ensembl
rs147972423 CA56638299 COSM108570	421	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA56638316 rs1031936413	423	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1887469 rs752148550	424	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1434371577 CA348595574	428	L>*		No	ClinGen gnomAD
COSM1231643 rs377689794 CA56638331	428	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1434371577 CA348595572	428	L>S		No	ClinGen gnomAD
CA1887471 rs781310444	431	N>S		No	ClinGen ExAC gnomAD
CA348595618 rs1306984490	432	F>L		No	ClinGen TOPMed gnomAD
CA56638358 rs989856847	432	F>S		No	ClinGen Ensembl
CA1887472 rs748243889	433	L>S		No	ClinGen ExAC gnomAD
CA1887473 rs769939888	437	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348595672 rs769939888	437	P>Q		No	ClinGen ExAC gnomAD
CA1887475 rs368272666	438	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368272666 CA1887476	438	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA348595685 rs1276256090	439	P>S		No	ClinGen gnomAD
CA56638443 rs913705741	440	T>A		No	ClinGen TOPMed gnomAD
rs768037984 CA348595702	441	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA1887479 rs768037984	441	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs200474378 CA56638461	442	T>S		No	ClinGen gnomAD
rs1376869583 CA348595744	445	R>T		No	ClinGen TOPMed gnomAD
rs781193476 CA56638465	446	V>I		No	ClinGen Ensembl
CA56638487 rs374483821	448	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1887481 rs374483821	448	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs567590628 CA56638532	451	P>L		No	ClinGen Ensembl
CA1887483 rs184951908	451	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	452	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1887484 rs371290991	452	P>R		No	ClinGen ESP ExAC TOPMed
rs1273794906 CA348595814	453	N>Y		No	ClinGen TOPMed
rs772024456 CA1887485	454	P>R		No	ClinGen ExAC gnomAD
CA56638555 rs374797574	456	S>P		No	ClinGen ESP TOPMed
rs1324722346 CA348595857	458	S>G		No	ClinGen gnomAD
CA348595861 rs140973089	458	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348595863 CA1887489 rs2304602 VAR_052686	458	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
CA1887488 rs140973089	458	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342407346 CA348595883	460	S>*		No	ClinGen gnomAD
CA348595878 rs1299442952	460	S>T		No	ClinGen gnomAD
CA348595889 rs1249147655	461	E>K		No	ClinGen gnomAD
rs1489148485 CA348595904	462	K>*		No	ClinGen gnomAD
rs1417826976 CA348596220	463	R>S		No	ClinGen TOPMed gnomAD
CA56640525 rs1015388137	464	E>K		No	ClinGen gnomAD
rs1015388137 CA348596223	464	E>Q		No	ClinGen gnomAD
rs753250604 CA1887509	465	P>L		No	ClinGen ExAC TOPMed gnomAD
rs529829036 CA56640541	466	V>M		No	ClinGen 1000Genomes gnomAD
rs1286814540 CA348596282	470	V>L		No	ClinGen gnomAD
CA348596320 rs1292165848	474	R>C		No	ClinGen gnomAD
CA1887511 rs764221227	474	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1887512 rs764221227	474	R>P		No	ClinGen ExAC TOPMed gnomAD
rs547954260 CA56640583	477	D>H		No	ClinGen 1000Genomes ExAC TOPMed
CA1887515 rs547954260 COSM397164	477	D>N	lung endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed
rs746777878 CA1887516	478	F>I		No	ClinGen ExAC
TCGA novel	480	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781246431 CA1887518	484	I>F		No	ClinGen ExAC gnomAD
rs748163394 CA1887519	484	I>M		No	ClinGen ExAC gnomAD
CA1887521 rs777283999	485	Y>*		No	ClinGen ExAC
CA1887520 rs769416298	485	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1559545285 CA348596428	485	Y>H		No	ClinGen Ensembl
CA56640641 rs953595534	487	L>*		No	ClinGen gnomAD
rs569678124 CA56640648	488	R>K		No	ClinGen 1000Genomes
CA348596464 rs1188872896	489	T>S		No	ClinGen gnomAD
rs1256930053 CA348596486	491	D>N		No	ClinGen TOPMed gnomAD
CA348596574 rs1242279295	498	N>H		No	ClinGen gnomAD
rs1176561698 CA348596664	505	T>I		No	ClinGen TOPMed

No associated diseases with Q92575

1 regional properties for Q92575

Type	Name	Position	InterPro Accession
domain	UBX domain	311 - 395	IPR001012

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Peripheral membrane protein Nucleus envelope	Both the N- and the C-terminus face the cytosol Also found in the nucleus envelope contiguous to the ER
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
response to unfolded protein	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus.
ubiquitin-dependent ERAD pathway	The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38349	UBX7	UBX domain-containing protein 7	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q3ZBU9	UBXN4	UBX domain-containing protein 4	Bos taurus (Bovine)	PR
Q8VCH8	Ubxn4	UBX domain-containing protein 4	Mus musculus (Mouse)	PR
Q5HZY0	Ubxn4	UBX domain-containing protein 4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MLWFQGAIPA	AIATAKRSGA	VFVVFVAGDD	EQSTQMAASW	EDDKVTEASS	NSFVAIKIDT
70	80	90	100	110	120
KSEACLQFSQ	IYPVVCVPSS	FFIGDSGIPL	EVIAGSVSAD	ELVTRIHKVR	QMHLLKSETS
130	140	150	160	170	180
VANGSQSESS	VSTPSASFEP	NNTCENSQSR	NAELCEIPPT	SDTKSDTATG	GESAGHATSS
190	200	210	220	230	240
QEPSGCSDQR	PAEDLNIRVE	RLTKKLEERR	EEKRKEEEQR	EIKKEIERRK	TGKEMLDYKR
250	260	270	280	290	300
KQEEELTKRM	LEERNREKAE	DRAARERIKQ	QIALDRAERA	ARFAKTKEEV	EAAKAAALLA
310	320	330	340	350	360
KQAEMEVKRE	SYARERSTVA	RIQFRLPDGS	SFTNQFPSDA	PLEEARQFAA	QTVGNTYGNF
370	380	390	400	410	420
SLATMFPRRE	FTKEDYKKKL	LDLELAPSAS	VVLLPAGRPT	ASIVHSSSGD	IWTLLGTVLY
430	440	450	460	470	480
PFLAIWRLIS	NFLFSNPPPT	QTSVRVTSSE	PPNPASSSKS	EKREPVRKRV	LEKRGDDFKK
490	500
EGKIYRLRTQ	DDGEDENNTW	NGNSTQQM