AiPD: Autoinhibited Protein Database

Q9UNZ2

Gene name	NSFL1C (UBXN2C)
Protein name	NSFL1 cofactor p47
Names	UBX domain-containing protein 2C, p97 cofactor p47
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55968
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

16-319 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

16-319 (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

3 structures for Q9UNZ2

Entry ID	Method	Resolution	Chain	Position	Source
1SS6	NMR	-	A	171-270	PDB
8HRZ	X-ray	270 A	M/N/O/P/Q/R/S/T/U/V/W/X	287-370	PDB
AF-Q9UNZ2-F1	Predicted				AlphaFoldDB

259 variants for Q9UNZ2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1465661037 CA407991542	3	A>E		No	ClinGen TOPMed gnomAD
TCGA novel	4	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1325374581 CA407991533	4	E>Q		No	ClinGen TOPMed
rs1434858162 CA407991510	6	Q>R		No	ClinGen gnomAD
rs1425554993 CA407991505	7	E>K		No	ClinGen TOPMed gnomAD
rs1425554993 CA407991506	7	E>Q		No	ClinGen TOPMed gnomAD
rs1020028490 CA310779892	7	E>V		No	ClinGen TOPMed
CA9727975 rs768407230	8	A>S		No	ClinGen ExAC TOPMed gnomAD
rs768407230 CA9727976	8	A>T		No	ClinGen ExAC TOPMed gnomAD
CA407991496 rs1476602565	8	A>V		No	ClinGen gnomAD
CA407991492 rs1216699125	9	L>Q		No	ClinGen gnomAD
CA407991486 rs1482665691	10	R>M		No	ClinGen gnomAD
CA407991483 rs1186421460	11	E>K		No	ClinGen TOPMed
CA407991475 rs1212797015	12	F>I		No	ClinGen gnomAD
CA407991469 rs1233338392	12	F>L		No	ClinGen TOPMed gnomAD
rs1277892030 CA407991445	16	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1217202710 CA407991437	18	A>T		No	ClinGen TOPMed gnomAD
CA310779883 rs868586920 COSM1307160	19	E>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA407991417 rs1033104224	20	E>D		No	ClinGen TOPMed gnomAD
CA407991409 rs1400093399	21	D>E		No	ClinGen gnomAD
CA310779878 rs866574820	22	R>L		No	ClinGen gnomAD
CA407991407 rs866574820	22	R>Q		No	ClinGen gnomAD
rs755870380 CA9727972	22	R>W		No	ClinGen ExAC gnomAD
rs866499180 CA310779876	23	A>S		No	ClinGen Ensembl
rs780964316 CA9727970	24	R>C		No	ClinGen ExAC TOPMed gnomAD
rs867597362 CA310779872	24	R>H		No	ClinGen gnomAD
rs1193514014 CA407991388	26	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1183103202 CA407991364	29	S>A		No	ClinGen gnomAD
CA407991353 rs1223832818	31	G>S		No	ClinGen TOPMed
CA407991343 rs1483833351	32	W>L		No	ClinGen gnomAD
rs748909811	36	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9727953 rs368386530 COSM1410447	39	A>V	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA407990818 rs1450282688	42	Y>*		No	ClinGen TOPMed gnomAD
CA9727951 rs376064600	42	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9727949 rs746953993	45	G>R		No	ClinGen ExAC gnomAD
rs754051561 CA407990722	50	I>M		No	ClinGen ExAC TOPMed gnomAD
rs997638181 CA310779438	50	I>V		No	ClinGen TOPMed gnomAD
CA9727945 rs137956765	51	V>M		No	ClinGen 1000Genomes ExAC
rs1568632100 CA407990712	52	T>A		No	ClinGen Ensembl
COSM178169 rs756406410 CA9727944	54	S>L	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1193568502 CA407990696	54	S>T		No	ClinGen TOPMed
CA407990671 rs1159681598	56	A>T		No	ClinGen TOPMed
CA407990660 rs1303168497	57	T>I		No	ClinGen gnomAD
CA9727942 rs200170563	58	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9727943 rs200170563	58	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs902002603 CA310779435	58	P>S		No	ClinGen gnomAD
CA310779432 rs775087608	60	S>*		No	ClinGen Ensembl
CA407990646 rs1451200333	60	S>A		No	ClinGen TOPMed
rs752122888 CA9727940	61	V>L		No	ClinGen ExAC gnomAD
rs763644707 CA9727939	62	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1599977228 CA407990633	63	R>G		No	ClinGen Ensembl
rs762342942 CA9727938	63	R>K		No	ClinGen ExAC gnomAD
CA9727937 rs775118258	66	A>T		No	ClinGen ExAC gnomAD
rs1222872165 CA407990605	67	P>L		No	ClinGen gnomAD
rs376293006 CA9727915	69	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445250880 CA407990568	69	D>N		No	ClinGen gnomAD
rs1338008087 CA407990557	70	N>D		No	ClinGen gnomAD
rs1446484196 CA407990553	70	N>T		No	ClinGen gnomAD
rs1173320354 CA407990540	71	R>K		No	ClinGen gnomAD
CA407990447 rs1161507074	79	I>S		No	ClinGen gnomAD
TCGA novel	80	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310778310 rs771979297	80	H>R		No	ClinGen Ensembl
CA9727911 rs760430987	80	H>Y		No	ClinGen ExAC gnomAD
CA407990399 rs1568625866	83	D>V		No	ClinGen Ensembl
rs1307694147 CA407990310	90	E>K		No	ClinGen gnomAD
CA310778306 rs999338985	91	G>S		No	ClinGen TOPMed
rs748182050 CA9727908	93	R>K		No	ClinGen ExAC gnomAD
rs1421872228 CA407989509	94	F>V		No	ClinGen TOPMed
TCGA novel rs1209398496 CA407989479	98	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs780862580 CA9727846	103	G>A		No	ClinGen ExAC gnomAD
CA9727847 rs750000557	103	G>R		No	ClinGen ExAC gnomAD
rs1223386611 CA407989419	107	V>F		No	ClinGen gnomAD
CA407989408 rs1308531101	109	P>S		No	ClinGen gnomAD
CA310777738 rs1054024514	111	R>K		No	ClinGen TOPMed
CA310777737 rs199992787	113	K>R		No	ClinGen 1000Genomes
CA310777735 rs926542868	115	P>L		No	ClinGen Ensembl
CA407989357 rs762930021 CA9727842	116	N>K		No	ClinGen ExAC gnomAD
CA407989359 rs1337249336	116	N>S		No	ClinGen gnomAD
CA407989356 rs1417201146	117	E>K		No	ClinGen TOPMed
TCGA novel	122	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760806155 CA9727839	125	G>C		No	ClinGen ExAC TOPMed gnomAD
CA407989297 rs1157286495	125	G>D		No	ClinGen gnomAD
CA407989289 rs1455813936	126	A>D		No	ClinGen TOPMed gnomAD
CA407989290 rs1455813936	126	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	127	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773214321 CA9727838	127	K>E		No	ClinGen ExAC gnomAD
rs369158786 CA9727837	127	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs774709132 CA9727835	129	H>R		No	ClinGen ExAC
rs762007821 CA9727836	129	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs200562921 CA310777723	134	V>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA310777725 rs200562921	134	V>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs150567782 CA407989166	134	V>L		No	ClinGen ESP gnomAD
rs150567782 CA310777726	134	V>M		No	ClinGen ESP gnomAD
CA9727833 rs572522929	136	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9727832 rs780568674	140	S>R		No	ClinGen ExAC TOPMed gnomAD
rs745357966 CA9727830	141	P>L		No	ClinGen ExAC gnomAD
CA9727831 rs770321045	141	P>T		No	ClinGen ExAC gnomAD
rs756871266 CA9727828	145	S>C		No	ClinGen ExAC TOPMed gnomAD
rs756871266 CA9727829	145	S>R		No	ClinGen ExAC TOPMed gnomAD
CA9727827 rs751186593	146	K>N		No	ClinGen ExAC gnomAD
CA9727825 rs558917051	147	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558917051 CA9727826	147	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9727823 rs765245352	148	R>S		No	ClinGen ExAC gnomAD
CA9727805 rs754877014	151	A>V		No	ClinGen ExAC gnomAD
rs1334152404 CA407988492	156	R>C		No	ClinGen gnomAD
CA407988483 rs1451111789	156	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9727804 rs753729851	160	A>V		No	ClinGen ExAC TOPMed gnomAD
CA310777594 rs1049299184	161	P>S		No	ClinGen TOPMed gnomAD
CA407988376 rs1432591507	163	E>A		No	ClinGen TOPMed
rs767583384 CA9727803	163	E>K		No	ClinGen ExAC gnomAD
CA9727802 rs757310372	166	A>P		No	ClinGen ExAC TOPMed gnomAD
CA407988310 rs1169690480	167	Y>C		No	ClinGen gnomAD
CA310777588 rs929960619	175	H>Y		No	ClinGen gnomAD
rs1204119023 CA407988184	176	S>P		No	ClinGen gnomAD
rs1454081828 CA407988148	179	D>N		No	ClinGen TOPMed
CA310777405 rs930669980	180	V>L		No	ClinGen TOPMed
rs1599950052 CA407987353	181	H>Y		No	ClinGen Ensembl
CA9727785 rs779821818	183	V>L		No	ClinGen ExAC gnomAD
CA310777400 rs112570105	186	L>P		No	ClinGen Ensembl
CA9727783 rs751621318	194	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA407986993 rs1367355096	195	N>S		No	ClinGen TOPMed gnomAD
rs1568620278 CA407986936	198	L>F		No	ClinGen Ensembl
CA407986916 rs1405469583	199	R>G		No	ClinGen TOPMed gnomAD
rs765600681 CA9727779	202	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA310777394 rs199534799	203	D>G		No	ClinGen 1000Genomes
rs759792105 CA9727778	204	P>L		No	ClinGen ExAC gnomAD
CA9727776 rs777102479	206	N>D		No	ClinGen ExAC TOPMed gnomAD
CA310777388 rs904653156	206	N>S		No	ClinGen TOPMed
CA9727774 rs146299891	211	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA407986582 rs1568620151	211	E>K		No	ClinGen Ensembl
rs772779945 CA9727773	213	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9727772 COSM1681488 rs771720260	214	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9727771 rs202113163	214	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA407986384 rs1334477997	217	E>D		No	ClinGen TOPMed gnomAD
rs1404993130 CA407986385	217	E>V		No	ClinGen gnomAD
rs761374802 CA9727752	220	A>T		No	ClinGen ExAC gnomAD
RCV000882629 CA9727750 rs145945037	222	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA407986334 rs145945037	222	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775077738 CA9727748	223	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762730625 CA9727749	223	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1241630883 CA407986300	225	L>Q		No	ClinGen gnomAD
rs1157662014 CA407986293	226	A>G		No	ClinGen TOPMed gnomAD
CA9727747 rs745767385	227	H>D		No	ClinGen ExAC TOPMed gnomAD
rs745767385 CA9727746	227	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA407986276 rs770907558	228	G>C		No	ClinGen ExAC TOPMed gnomAD
rs770907558 CA9727744	228	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9727743 rs748213543	229	G>E		No	ClinGen ExAC gnomAD
rs779117739 CA9727742	231	V>L		No	ClinGen ExAC gnomAD
CA407986241 rs779117739	231	V>M		No	ClinGen ExAC gnomAD
rs754102662 CA9727740	238	H>N		No	ClinGen ExAC gnomAD
CA310777296 rs899155337	238	H>R		No	ClinGen TOPMed gnomAD
CA9727738 COSM178167 rs371393612	239	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9727739 rs201890755	239	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA407986136 rs1568619359	240	D>N		No	ClinGen Ensembl
CA9727736 rs768112634	241	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1268801284 CA407986098	243	F>L		No	ClinGen gnomAD
rs1343394762 CA407986091	243	F>S		No	ClinGen TOPMed
rs1168701546 CA407986063	245	K>N		No	ClinGen TOPMed gnomAD
CA310777289 rs979190966	246	P>A		No	ClinGen Ensembl
TCGA novel	246	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9727733 rs751025952	247	K>R		No	ClinGen ExAC TOPMed gnomAD
CA407986032 rs1282209592	248	G>V		No	ClinGen TOPMed
TCGA novel	250	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9727732 rs763661840	251	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	252	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250270565 CA407985974	254	T>A		No	ClinGen gnomAD
rs769480271 CA9727729	256	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1221897369 CA407985936	257	G>C		No	ClinGen gnomAD
CA407985890 rs1204816726	261	G>D		No	ClinGen gnomAD
CA407985885 rs1456359125	262	S>G		No	ClinGen TOPMed
rs1568612787 CA407984985	265	P>L		No	ClinGen Ensembl
TCGA novel	266	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407984953 rs1468412078	268	L>F		No	ClinGen TOPMed gnomAD
rs1431772452 CA407984947	269	S>C		No	ClinGen TOPMed gnomAD
CA407984922 rs145181348	271	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9727701 rs145181348	271	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	273	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407984902 rs1414833373	273	P>S		No	ClinGen TOPMed
CA310776091 rs754044061	275	Q>R		No	ClinGen TOPMed gnomAD
CA9727698 rs149644870	277	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9727699 rs149644870	277	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270489689 CA407984809	281	A>T		No	ClinGen TOPMed
TCGA novel	281	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9727696 rs778324759	282	K>R		No	ClinGen ExAC gnomAD
CA9727695 rs138246411	284	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9727694 rs752248671	285	S>P		No	ClinGen ExAC TOPMed gnomAD
rs752248671 CA407984767	285	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1338104454 CA407984754	286	S>C		No	ClinGen gnomAD
TCGA novel	287	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9727693 rs150458307	287	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753512928 CA9727691	288	L>F		No	ClinGen ExAC gnomAD
rs766121678 CA9727690	289	I>V		No	ClinGen ExAC gnomAD
CA9727687 rs767475268	290	D>G		No	ClinGen ExAC TOPMed gnomAD
rs9575 CA9727688 VAR_017481	290	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs9575 CA9727689	290	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775640869 CA9727685	291	E>K		No	ClinGen ExAC gnomAD
rs1568612518 CA407984668	294	P>A		No	ClinGen Ensembl
rs924609537 CA310776073	295	T>I		No	ClinGen Ensembl
rs147775030 CA9727684	297	N>S		No	ClinGen ESP ExAC gnomAD
rs6105156 CA310776068	301	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA407984576 rs1599934587	303	A>T		No	ClinGen Ensembl
TCGA novel	304	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310776066 rs780054010	304	D>N		No	ClinGen Ensembl
TCGA novel	305	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776964774 CA9727682	305	G>S		No	ClinGen ExAC gnomAD
CA407984543 rs557943992 CA9727680	306	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs916060907 CA310776061	307	R>K		No	ClinGen TOPMed gnomAD
CA310776058 rs374066502	308	L>V		No	ClinGen ESP TOPMed
rs1599934478 CA407984508	309	V>G		No	ClinGen Ensembl
rs1291760609 CA407984497	310	Q>H		No	ClinGen TOPMed gnomAD
rs1599934448 CA407984485	311	K>N		No	ClinGen Ensembl
CA9727677 rs748668998	313	N>T		No	ClinGen ExAC gnomAD
rs199849436 CA9727676	314	H>P		No	ClinGen ExAC gnomAD
CA310776056 rs6110025	317	R>K		No	ClinGen Ensembl
CA407983976 rs772346969	319	S>I		No	ClinGen ExAC gnomAD
CA9727661 rs772346969	319	S>N		No	ClinGen ExAC gnomAD
CA407983973 rs1399957336	320	D>N		No	ClinGen gnomAD
TCGA novel	322	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377054262 CA9727659	322	R>Q		No	ClinGen ESP ExAC gnomAD
CA310775748 rs1004901422	323	L>F		No	ClinGen Ensembl
CA9727658 rs373357248	323	L>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA310775746 rs113756722	324	F>L		No	ClinGen Ensembl
CA9727657 rs148691910	326	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407983861 rs1489735278	328	A>P		No	ClinGen gnomAD
rs1489735278 CA407983860	328	A>S		No	ClinGen gnomAD
rs1223910065 CA407983853	328	A>V		No	ClinGen TOPMed
rs376866281 CA9727655	329	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369082156 CA9727656 COSM1196803	329	R>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1270455997 CA407983802	333	A>V		No	ClinGen gnomAD
rs1323157715 CA407983782	335	T>A		No	ClinGen gnomAD
rs1281424166 CA9727653	335	T>I		No	ClinGen gnomAD
CA407983746 rs1369629889	336	S>N		No	ClinGen gnomAD
CA9727650 rs143700031	339	L>F		No	ClinGen ExAC gnomAD
CA407983655 rs1386127159	342	T>A		No	ClinGen gnomAD
rs144980234 CA9727647	345	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404950206 CA407983593	346	K>E		No	ClinGen TOPMed gnomAD
CA407983588 rs1173336310	346	K>R		No	ClinGen TOPMed gnomAD
rs570851145 CA9727646	347	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA9727645 rs570851145	347	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA9727644 rs760904370	347	E>V		No	ClinGen ExAC gnomAD
CA9727642 rs767822683	350	D>V		No	ClinGen ExAC gnomAD
rs1164997542 CA407983488	353	Q>E		No	ClinGen TOPMed
CA9727641 rs200551764	353	Q>H		No	ClinGen ExAC gnomAD
CA407983482 rs1250264858	353	Q>R		No	ClinGen gnomAD
TCGA novel	356	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310775733 rs35828562	357	E>G		No	ClinGen Ensembl
CA407983423 rs1232204789	357	E>K		No	ClinGen gnomAD
CA9727640 rs6079152	360	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	362	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9727639 rs769147009	362	N>Y		No	ClinGen ExAC gnomAD
CA310775727 rs3210928	363	A>G		No	ClinGen gnomAD
CA9727638 rs749796057	363	A>S		No	ClinGen ExAC gnomAD
rs3210928 CA407983286	363	A>V		No	ClinGen gnomAD
CA9727637 rs775003609	365	I>V		No	ClinGen ExAC
CA407983249 rs1213865674	366	V>M		No	ClinGen TOPMed gnomAD
rs769207132 CA9727636	367	Q>L		No	ClinGen ExAC gnomAD
CA9727635 rs369242636	368	R>Q		No	ClinGen ExAC gnomAD
CA407983179 rs1300653627	370	T>I		No	ClinGen TOPMed gnomAD
CA407983156 rs1599930988	371	T>Y		No	ClinGen Ensembl

No associated diseases with Q9UNZ2

2 regional properties for Q9UNZ2

Type	Name	Position	InterPro Accession
domain	UBX domain	290 - 369	IPR001012
domain	SEP domain	176 - 270	IPR012989

Functions

		Description
EC Number
Subcellular Localization	Nucleus Golgi apparatus, Golgi stack Chromosome Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Predominantly nuclear in interphase cells Bound to the axial elements of sex chromosomes in pachytene spermatocytes A small proportion of the protein is cytoplasmic, associated with Golgi stacks Localizes to centrosome during mitotic prophase and metaphase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi stack	The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
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.
VCP-NSFL1C complex	A protein complex between the ATPase VCP (p97) and its cofactor p47 (NSFL1C). In human, the protein complex consists of one homotrimer of NSFL1C/p47 per homohexamer of VCP/p97.

2 GO annotations of molecular function

Name	Definition
lipid binding	Binding to a lipid.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

8 GO annotations of biological process

Name	Definition
autophagosome assembly	The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
establishment of mitotic spindle orientation	A cell cycle process that sets the alignment of mitotic spindle relative to other cellular structures.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
membrane fusion	The membrane organization process that joins two lipid bilayers to form a single membrane.
negative regulation of protein localization to centrosome	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to centrosome.
nuclear membrane reassembly	The reformation of the nuclear membranes following their breakdown in the context of a normal process.
positive regulation of mitotic centrosome separation	Any process that activates or increases the frequency, rate or extent of centrosome separation.
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.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZC4	NSFL1C	NSFL1 cofactor p47	Bos taurus (Bovine)	PR
Q5ZK10	NSFL1C	NSFL1 cofactor p47	Gallus gallus (Chicken)	PR
Q14CS0	UBXN2B	UBX domain-containing protein 2B	Homo sapiens (Human)	PR
Q5T124	UBXN11	UBX domain-containing protein 11	Homo sapiens (Human)	PR
Q9D572	Ubxn11	UBX domain-containing protein 11	Mus musculus (Mouse)	PR
Q0KL01	Ubxn2b	UBX domain-containing protein 2B	Mus musculus (Mouse)	PR
Q99KJ0	Ubxn2a	UBX domain-containing protein 2A	Mus musculus (Mouse)	PR
Q9CZ44	Nsfl1c	NSFL1 cofactor p47	Mus musculus (Mouse)	PR
Q8R512	Ubxn11	UBX domain-containing protein 11	Rattus norvegicus (Rat)	PR
P0C627	Ubxn2b	UBX domain-containing protein 2B	Rattus norvegicus (Rat)	PR
O35987	Nsfl1c	NSFL1 cofactor p47	Rattus norvegicus (Rat)	PR
F4IXN6	PUX6	Plant UBX domain-containing protein 6	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAAERQEALR	EFVAVTGAEE	DRARFFLESA	GWDLQIALAS	FYEDGGDEDI	VTISQATPSS
70	80	90	100	110	120
VSRGTAPSDN	RVTSFRDLIH	DQDEDEEEEE	GQRFYAGGSE	RSGQQIVGPP	RKKSPNELVD
130	140	150	160	170	180
DLFKGAKEHG	AVAVERVTKS	PGETSKPRPF	AGGGYRLGAA	PEEESAYVAG	EKRQHSSQDV
190	200	210	220	230	240
HVVLKLWKSG	FSLDNGELRS	YQDPSNAQFL	ESIRRGEVPA	ELRRLAHGGQ	VNLDMEDHRD
250	260	270	280	290	300
EDFVKPKGAF	KAFTGEGQKL	GSTAPQVLST	SSPAQQAENE	AKASSSILID	ESEPTTNIQI
310	320	330	340	350	360
RLADGGRLVQ	KFNHSHRISD	IRLFIVDARP	AMAATSFILM	TTFPNKELAD	ESQTLKEANL

LNAVIVQRLT