AiPD: Autoinhibited Protein Database

Q14CS0

Gene name	UBXN2B
Protein name	UBX domain-containing protein 2B
Names	NSFL1 cofactor p37, p97 cofactor p37
Species	Homo sapiens (Human)
KEGG Pathway	hsa:137886
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-166 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-166 (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 Q14CS0

Entry ID	Method	Resolution	Chain	Position	Source
8B5R	EM	610 A			PDB
AF-Q14CS0-F1	Predicted				AlphaFoldDB

253 variants for Q14CS0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA177288011 rs1028449667	2	A>T		No	ClinGen TOPMed
rs61732907 CA4756212	4	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1225166637 CA371286769	5	G>E		No	ClinGen TOPMed
CA371286779 rs772095076	6	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4756213 rs772095076	6	G>D		No	ClinGen ExAC TOPMed gnomAD
rs772095076 CA177288017	6	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4756215 rs531832732	7	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs990030910 CA177288024 COSM4151533	7	P>S	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
rs948427869 CA177288043	8	E>D		No	ClinGen TOPMed gnomAD
rs975307253 CA177288033	8	E>K		No	ClinGen TOPMed gnomAD
rs928432922 CA371286797	10	G>C		No	ClinGen TOPMed gnomAD
rs1475031050 CA371286798	10	G>D		No	ClinGen TOPMed
CA177288080 rs928432922	10	G>R		No	ClinGen TOPMed gnomAD
rs928432922 CA371286796	10	G>S		No	ClinGen TOPMed gnomAD
rs1465072941 CA371286804	11	E>G		No	ClinGen TOPMed
rs1262068583 CA371286811	12	Q>*		No	ClinGen TOPMed
rs1262068583 CA371286810	12	Q>E		No	ClinGen TOPMed
rs1326148603 CA371286812	12	Q>P		No	ClinGen TOPMed
CA371286813 rs1326148603	12	Q>R		No	ClinGen TOPMed
rs1369116267 CA371286822	13	E>A		No	ClinGen TOPMed gnomAD
rs1328698110 CA371286817	13	E>K		No	ClinGen gnomAD
CA371286855 rs1453570865	18	G>E		No	ClinGen gnomAD
rs61732916 CA4756217	18	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA177288098 rs887287078	19	P>S		No	ClinGen Ensembl
rs1199768742 CA371286873	21	P>L		No	ClinGen TOPMed gnomAD
CA371286877 rs1232388343	22	P>Q		No	ClinGen TOPMed gnomAD
CA371286897 rs750281670	25	R>L		No	ClinGen TOPMed gnomAD
rs750281670 CA177288101	25	R>Q		No	ClinGen TOPMed gnomAD
rs1185758891 CA371286895	25	R>W		No	ClinGen Ensembl
CA4756218 rs762277737	28	Q>H		No	ClinGen ExAC TOPMed
rs1044615875 CA177288104	28	Q>L		No	ClinGen TOPMed
rs772152167 CA4756231	30	A>P		No	ClinGen ExAC gnomAD
CA4756234 rs768850765	32	A>E		No	ClinGen ExAC gnomAD
CA4756233 rs747296933	32	A>T		No	ClinGen ExAC TOPMed gnomAD
rs373020917 CA177290879	34	L>S		No	ClinGen ESP TOPMed gnomAD
rs776901069 CA4756236	35	Y>C		No	ClinGen ExAC gnomAD
rs1167104911 CA371287388	36	E>Q		No	ClinGen gnomAD
CA371287408 rs891218697	37	D>E		No	ClinGen TOPMed gnomAD
rs1454131687 CA371287399	37	D>H		No	ClinGen TOPMed
rs1393933997 CA371287406	37	D>V		No	ClinGen gnomAD
CA4756237 rs762270373	38	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200027201 CA4756239	41	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs200027201 CA177290921	41	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4756240 rs763491800	41	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA371287454 rs1342777835	42	K>E		No	ClinGen gnomAD
rs1246033510 CA371287462	42	K>N		No	ClinGen gnomAD
rs199894539 CA4756243	45	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA371287500 rs1200712843	46	S>C		No	ClinGen gnomAD
rs1200712843 CA371287502	46	S>F		No	ClinGen gnomAD
CA4756244 rs61733273	47	N>S		No	ClinGen ExAC gnomAD
CA4756247 rs755956050	49	P>H		No	ClinGen ExAC gnomAD
rs1585593519 CA371287530	49	P>T		No	ClinGen Ensembl
CA177290958 rs1050782850	50	K>N		No	ClinGen Ensembl
CA4756248 rs777372989	52	T>A		No	ClinGen ExAC TOPMed gnomAD
CA371287575 rs1421144897	53	V>A		No	ClinGen gnomAD
rs1474763748 CA371287609	56	S>I		No	ClinGen gnomAD
rs780165059 CA4756251	58	R>Q		No	ClinGen ExAC gnomAD
rs373559127 CA4756250	58	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1428148496 CA371287634	59	T>A		No	ClinGen gnomAD
CA4756252 rs747062028	59	T>I		No	ClinGen ExAC gnomAD
CA4756253 rs768684921	60	P>A		No	ClinGen ExAC gnomAD
rs995794867 CA177291014	60	P>L		No	ClinGen TOPMed
CA4756255 rs781499846	61	P>S		No	ClinGen ExAC gnomAD
rs781499846 CA4756254	61	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1397069888 CA371287655	62	Q>E		No	ClinGen TOPMed gnomAD
CA4756256 rs770203167	62	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs763615732 COSM242161 CA4756258	63	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs200008585 CA4756257	63	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	68	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764016559 CA4756266	68	E>G		No	ClinGen ExAC gnomAD
CA4756268 rs757232687	72	S>G		No	ClinGen ExAC gnomAD
TCGA novel	74	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750313202 CA4756270	76	I>M		No	ClinGen ExAC gnomAD
rs778854921 CA4756269	76	I>T		No	ClinGen ExAC gnomAD
rs1385259166 CA371281936 COSM3432480	78	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs755100410 CA4756271	78	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs373192241 CA4756272	79	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs868008891 CA177254791	81	T>N		No	ClinGen gnomAD
CA371281983 rs1355727182	84	I>V		No	ClinGen gnomAD
rs769897142 CA4756274	86	N>I		No	ClinGen ExAC gnomAD
CA371282015 rs1290695745	86	N>K		No	ClinGen gnomAD
TCGA novel	88	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	91	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267451631 CA371282080	91	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1418065631 CA371282101	92	A>T		No	ClinGen TOPMed gnomAD
CA371282110 rs1176240821	92	A>V		No	ClinGen gnomAD
rs1585608116 CA371282112	93	R>G		No	ClinGen Ensembl
CA371282126 rs377152205	94	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4756277 rs377152205	94	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1585608136 CA371282149	95	H>Q		No	ClinGen Ensembl
CA371282145 rs1422040750	95	H>R		No	ClinGen gnomAD
CA4756279 rs760058063	98	V>L		No	ClinGen ExAC gnomAD
rs564197258 CA4756280	101	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs774857176 CA4756281	103	A>T		No	ClinGen ExAC TOPMed gnomAD
rs758409742 CA177254853	105	R>G		No	ClinGen Ensembl
rs544408955 CA177254862	108	G>S		No	ClinGen Ensembl
CA4756282 rs182035809	109	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA177254864 rs908607234 COSM343778	110	D>Y	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs766198632 CA4756309	114	S>L		No	ClinGen ExAC gnomAD
CA371283726 rs1563463376	117	G>R		No	ClinGen Ensembl
CA371283730 rs1337597019	117	G>V		No	ClinGen TOPMed
rs1414923019 CA371283754	119	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs952060905 CA177257113	119	G>R		No	ClinGen TOPMed
rs1466273152 CA371283817	123	G>D		No	ClinGen gnomAD
rs751470220 CA4756310	123	G>R		No	ClinGen ExAC gnomAD
rs1357411373 CA371283864	125	S>F		No	ClinGen gnomAD
rs1333561780 CA371283853	125	S>T		No	ClinGen gnomAD
TCGA novel	125	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756167679 CA4756311	126	F>S		No	ClinGen ExAC gnomAD
CA4756312 rs764207300	127	C>R		No	ClinGen ExAC gnomAD
CA4756313 rs754113852	127	C>Y		No	ClinGen ExAC gnomAD
CA4756316 rs376229785	129	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4756315 COSM1100706 rs765005760	129	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4756317 rs758982364	130	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4756318 rs780449299	131	E>D		No	ClinGen ExAC gnomAD
CA371284023 rs1385894169	134	Y>F		No	ClinGen TOPMed gnomAD
rs908142790 CA177257162	139	L>Q		No	ClinGen TOPMed gnomAD
CA4756320 rs768159329	140	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1318673819 CA371284170	141	D>E		No	ClinGen gnomAD
CA4756321 rs776115510	141	D>G		No	ClinGen ExAC gnomAD
COSM3413078 CA371284157 rs1271327769	141	D>Y	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA371284357 rs1381538331	142	V>F		No	ClinGen TOPMed
rs201181124 CA177258162	144	I>T		No	ClinGen gnomAD
rs748909762 CA4756374	145	L>F		No	ClinGen ExAC gnomAD
CA371284457 rs1404406897	148	L>P		No	ClinGen gnomAD
rs770634111 CA4756375	150	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4756376 rs201331612	151	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201936054 CA4756377	151	N>S		No	ClinGen ExAC TOPMed gnomAD
CA371284507 rs1307874776	152	G>S		No	ClinGen gnomAD
CA371284575 rs1351779324	156	D>E		No	ClinGen gnomAD
rs776891147 CA371284570	156	D>G		No	ClinGen ExAC gnomAD
rs772110974 CA4756378	156	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776891147 CA4756379	156	D>V		No	ClinGen ExAC gnomAD
rs964932279 CA177258205	158	G>A		No	ClinGen TOPMed
CA4756380 rs762014537	162	P>T		No	ClinGen ExAC gnomAD
CA4756381 rs367929276	163	Y>C		No	ClinGen ESP ExAC gnomAD
rs1214421061 CA371284663	164	N>D		No	ClinGen gnomAD
CA4756383 rs763233939	164	N>K		No	ClinGen ExAC gnomAD
rs750614756 CA4756382	164	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	166	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180364934 CA371284680	166	P>Q		No	ClinGen gnomAD
TCGA novel	174	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371285887 rs1292314399	179	E>K		No	ClinGen TOPMed
rs753364867 CA4756411	183	E>D		No	ClinGen ExAC gnomAD
rs868074319 CA177262572	184	L>R		No	ClinGen Ensembl
rs555882026 CA177262587	186	R>C		No	ClinGen TOPMed gnomAD
CA4756412 rs199883632	186	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1215691937 CA371285937	187	L>F		No	ClinGen gnomAD
TCGA novel	187	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371285947 rs375334381	189	H>N		No	ClinGen ESP TOPMed gnomAD
rs375334381 CA177262621	189	H>Y		No	ClinGen ESP TOPMed gnomAD
CA371286002 rs1406449782	196	D>E		No	ClinGen TOPMed
CA371286000 rs1272553500	196	D>V		No	ClinGen TOPMed
CA4756413 rs778657953	197	M>I		No	ClinGen ExAC gnomAD
rs1200329278 CA371286025	199	D>E		No	ClinGen gnomAD
CA4756414 rs745468618	200	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1455046277 CA371286059	204	E>*		No	ClinGen gnomAD
CA177262628 rs764872927	205	Y>N		No	ClinGen Ensembl
rs758273410 CA4756415	206	I>L		No	ClinGen ExAC TOPMed gnomAD
CA371286074 rs758273410	206	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4756416 rs779990607	208	P>A		No	ClinGen ExAC gnomAD
CA177262690 rs887530377	208	P>H		No	ClinGen Ensembl
rs747002448 COSM1489353 CA4756417	209	R>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1463522066 CA371286106	211	R>K		No	ClinGen gnomAD
rs1347267640 CA371286135	215	F>V		No	ClinGen TOPMed
rs773207957 CA4756419	216	S>G		No	ClinGen ExAC gnomAD
CA371286143 rs749418561	216	S>N	Variant assessed as Somatic; 4.672e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4756420 rs749418561	216	S>T		No	ClinGen ExAC gnomAD
rs1371671280 CA371286162	219	G>R		No	ClinGen gnomAD
CA4756422 rs774573766	220	Q>E		No	ClinGen ExAC gnomAD
CA371286170 rs1355660911	220	Q>R		No	ClinGen TOPMed gnomAD
rs1264529404 CA371286181	221	K>N		No	ClinGen gnomAD
rs1216232226 CA371286177	221	K>T		No	ClinGen gnomAD
rs1157047032 CA371287297	232	T>I		No	ClinGen TOPMed
rs771043437 CA371287340	235	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771043437 CA4756441	235	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1380937657 CA371287376	238	E>Q		No	ClinGen TOPMed
CA4756443 rs746144657	240	D>G		No	ClinGen ExAC TOPMed gnomAD
rs774406501 CA4756442	240	D>N		No	ClinGen ExAC gnomAD
rs566016760 CA4756444	242	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4756446 rs370716179	243	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs775872066 CA4756445	243	I>V		No	ClinGen ExAC TOPMed gnomAD
CA371287486 rs1418841413	244	L>H		No	ClinGen gnomAD
rs768853683 CA4756447	245	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA371287525 rs1168589467	247	V>I		No	ClinGen gnomAD
TCGA novel	249	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442780964 CA371287581	250	I>T		No	ClinGen gnomAD
COSM73190 rs915645240 CA177267970	252	D>N	ovary Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	253	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252341360 CA371287627	253	S>T		No	ClinGen gnomAD
rs372755332 CA177267989	254	V>M		No	ClinGen ESP gnomAD
CA371287666 rs1416381497	255	P>L		No	ClinGen gnomAD
CA177268022 rs774956560	258	K>E		No	ClinGen Ensembl
TCGA novel	258	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293604049 CA371287695	259	I>V		No	ClinGen gnomAD
rs762222616 CA371287707 CA4756450	260	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	260	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1585621993 CA371287709	261	I>V		No	ClinGen Ensembl
rs764898139 CA4756451	262	R>T		No	ClinGen ExAC gnomAD
CA4756452 rs749933224	263	L>*		No	ClinGen ExAC gnomAD
CA371287735 rs1205757986	265	D>Y		No	ClinGen gnomAD
CA371287741 rs1255906083	266	G>R		No	ClinGen gnomAD
CA371287750 rs1286023013	267	S>N		No	ClinGen TOPMed
CA4756454 rs377183764	267	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751127051 CA4756455	268	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4756456 rs562946494	268	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1477588334 CA371287760	269	L>S		No	ClinGen gnomAD
COSM606108 rs1230006997 CA371287765	270	I>L	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs952473958 CA177268075	270	I>M		No	ClinGen TOPMed gnomAD
CA371287772 rs1563469087	271	Q>E		No	ClinGen Ensembl
CA4756457 rs370208032	274	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370208032 CA4756458	274	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs374920300 CA177268090	275	S>C		No	ClinGen ESP TOPMed
rs374920300 CA371287800	275	S>G		No	ClinGen ESP TOPMed
CA371287802 rs1410479667	275	S>N		No	ClinGen gnomAD
rs1423676264 CA371287858	281	D>E		No	ClinGen gnomAD
CA4756484 rs780041221	283	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM193047 rs1345383179 CA371287867	283	R>W	large_intestine Variant assessed as Somatic; 4.654e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs747314168 CA4756485	284	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	284	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768739332 CA4756486	286	I>M		No	ClinGen ExAC gnomAD
rs1369465535 CA371287886	286	I>V		No	ClinGen TOPMed gnomAD
CA371287892 rs1274244127	287	V>E		No	ClinGen TOPMed
rs371346170 CA4756488	287	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3663813 CA4756487 rs371346170	287	V>L	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4756490 rs770238296	288	Q>H		No	ClinGen ExAC gnomAD
CA4756491 rs773872313	289	S>P		No	ClinGen ExAC gnomAD
rs749749536 CA4756492	290	R>C		No	ClinGen ExAC gnomAD
rs770636977 CA4756493	290	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770636977 CA4756494	290	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4756496 rs565655095	294	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA371287934 rs1283486272	294	A>T		No	ClinGen TOPMed
CA4756495 rs565655095	294	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4756500 rs753778325	299	I>S		No	ClinGen ExAC gnomAD
rs534755226 CA4756501	303	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA371288002 rs1404347603	304	F>L		No	ClinGen gnomAD
rs766530496 CA4756502 COSM1137886	305	P>L	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA371288036 rs1327244132	309	L>R		No	ClinGen gnomAD
CA371288033 rs1440984530	309	L>V		No	ClinGen TOPMed gnomAD
CA4756504 rs755047392	311	D>H		No	ClinGen ExAC TOPMed gnomAD
rs755047392 CA371288044	311	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1563469750 CA371288076	315	T>I		No	ClinGen Ensembl
rs756555031 CA4756507	316	L>V		No	ClinGen ExAC gnomAD
rs778282101 CA4756508 CA371288092	318	E>D		No	ClinGen ExAC gnomAD
CA371288090 rs1337121495	318	E>G		No	ClinGen gnomAD
rs749872201 CA4756509	320	D>N		No	ClinGen ExAC gnomAD
CA177269514 rs922032339	321	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	323	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4756510 rs1360534332	324	T>I		No	ClinGen gnomAD
CA4756512 rs200167918	327	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4756513 rs200167918	327	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371288157 rs1233173052	329	Q>E		No	ClinGen gnomAD
TCGA novel	332	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q14CS0

2 regional properties for Q14CS0

Type	Name	Position	InterPro Accession
domain	UBX domain	251 - 330	IPR001012
domain	SEP domain	138 - 232	IPR012989

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytosol Endoplasmic reticulum Golgi apparatus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Localizes to centrosome during mitotic prophase and metaphase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 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).
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
spindle pole centrosome	A centrosome from which one pole of a mitotic or meiotic spindle is organized.

1 GO annotations of molecular function

Name	Definition
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
Q9UNZ2	NSFL1C	NSFL1 cofactor p47	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
Q99KJ0	Ubxn2a	UBX domain-containing protein 2A	Mus musculus (Mouse)	PR
Q9CZ44	Nsfl1c	NSFL1 cofactor p47	Mus musculus (Mouse)	PR
Q0KL01	Ubxn2b	UBX domain-containing protein 2B	Mus musculus (Mouse)	PR
O35987	Nsfl1c	NSFL1 cofactor p47	Rattus norvegicus (Rat)	PR
Q8R512	Ubxn11	UBX domain-containing protein 11	Rattus norvegicus (Rat)	PR
P0C627	Ubxn2b	UBX domain-containing protein 2B	Rattus norvegicus (Rat)	PR
F4IXN6	PUX6	Plant UBX domain-containing protein 6	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAEGGGPEPG	EQERRSSGPR	PPSARDLQLA	LAELYEDEVK	CKSSKSNRPK	ATVFKSPRTP
70	80	90	100	110	120
PQRFYSSEHE	YSGLNIVRPS	TGKIVNELFK	EAREHGAVPL	NEATRASGDD	KSKSFTGGGY
130	140	150	160	170	180
RLGSSFCKRS	EYIYGENQLQ	DVQILLKLWS	NGFSLDDGEL	RPYNEPTNAQ	FLESVKRGEI
190	200	210	220	230	240
PLELQRLVHG	GQVNLDMEDH	QDQEYIKPRL	RFKAFSGEGQ	KLGSLTPEIV	STPSSPEEED
250	260	270	280	290	300
KSILNAVVLI	DDSVPTTKIQ	IRLADGSRLI	QRFNSTHRIL	DVRNFIVQSR	PEFAALDFIL
310	320	330
VTSFPNKELT	DESLTLLEAD	ILNTVLLQQL	K