AiPD: Autoinhibited Protein Database

Q9NZ09

Gene name	UBAP1
Protein name	Ubiquitin-associated protein 1
Names	UBAP-1, Nasopharyngeal carcinoma-associated gene 20 protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51271
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

52-142 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

52-142 (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

4 structures for Q9NZ09

Entry ID	Method	Resolution	Chain	Position	Source
1WGN	NMR	-	A	381-430	PDB
4AE4	X-ray	165 A	A/B	389-502	PDB
5LM1	X-ray	255 A	B	261-280	PDB
AF-Q9NZ09-F1	Predicted				AlphaFoldDB

360 variants for Q9NZ09

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1587878722 RCV000850170	83	I>missing	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
RCV000770930 rs1563919973	97	E>missing	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
RCV000770931 rs1563920000	99	D>missing	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
rs1587878961 CA373245950 RCV001027715	106	K>*	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1563920132 RCV000770932	121	L>missing	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
rs1563920172 CA373246355 RCV000770929	125	Q>*	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_082199	125	Q>del	SPG80 [UniProt]	Yes	UniProt
rs1563920252 RCV001268741 RCV000770928	143	K>missing	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
RCV000770927 rs1563920268	146	S>missing	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
CA373247525 RCV000850171 rs1587879449	176	E>*	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_082200	176	E>del	SPG80; unknown pathological significance [UniProt]	Yes	UniProt
RCV001199970 rs1833955862	179	E>*	Spastic paraplegia 80, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
rs1281965190 CA373238369	2	A>S		No	ClinGen gnomAD
rs564543267 CA5031239	5	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1231912599 CA373238416	7	G>V		No	ClinGen gnomAD
CA373238446 rs1466695663	11	H>N		No	ClinGen TOPMed
TCGA novel	12	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5031252 rs767321486	12	G>A		No	ClinGen ExAC TOPMed gnomAD
rs767321486 CA192594841	12	G>E		No	ClinGen ExAC TOPMed gnomAD
rs868840482 CA192594852	20	V>F		No	ClinGen Ensembl
CA5031255 rs765878475	28	F>C		No	ClinGen ExAC gnomAD
rs1587867997 CA373241033	29	K>R		No	ClinGen Ensembl
rs753283643 CA5031256	30	T>P		No	ClinGen ExAC gnomAD
rs1255560282 CA373241117	33	K>E		No	ClinGen TOPMed gnomAD
CA373241160 rs1488031796	34	V>A		No	ClinGen gnomAD
CA373241180 rs1205697301	35	G>D		No	ClinGen TOPMed gnomAD
rs764542110 CA5031258	38	I>T		No	ClinGen ExAC gnomAD
rs540002022 CA5031257	38	I>V		No	ClinGen ExAC gnomAD
CA192594883 rs1043602218	39	G>D		No	ClinGen Ensembl
CA5031260 rs752071183	43	P>H		No	ClinGen ExAC gnomAD
rs752071183 CA5031259	43	P>L		No	ClinGen ExAC gnomAD
rs781610214 CA5031261	45	C>F		No	ClinGen ExAC gnomAD
CA192594894 rs905132769	45	C>G		No	ClinGen TOPMed gnomAD
CA373241420 rs1368297137	46	L>F		No	ClinGen gnomAD
rs746147869 CA5031262	47	Q>E		No	ClinGen ExAC gnomAD
CA192594919 rs746147869	47	Q>K		No	ClinGen ExAC gnomAD
rs756296140 CA5031263	48	V>A		No	ClinGen ExAC gnomAD
CA373241448 rs1473078986	48	V>I		No	ClinGen TOPMed
CA5031264 rs373522730	49	V>F		No	ClinGen ESP ExAC gnomAD
rs749332901 CA5031265 COSM3952669	51	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	52	V>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484823849 CA373241523	53	Q>*		No	ClinGen TOPMed
rs767782106 CA5031280	55	D>G		No	ClinGen ExAC gnomAD
TCGA novel	55	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1026949876 CA192601088	68	E>Q		No	ClinGen TOPMed gnomAD
CA373245200 rs1185033278	72	I>N		No	ClinGen TOPMed
rs150581165 CA192601099	73	E>K		No	ClinGen ESP gnomAD
CA5031286 rs370655695	76	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs535831020 CA5031287	77	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5031289 rs779129736	80	E>G		No	ClinGen ExAC TOPMed gnomAD
CA373245361 rs779129736	80	E>V		No	ClinGen ExAC TOPMed gnomAD
rs766374782 CA5031290	81	C>G		No	ClinGen ExAC gnomAD
CA192601115 rs766374782	81	C>R		No	ClinGen ExAC gnomAD
rs140613134 CA5031292	82	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140613134 CA5031291	82	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208056220 CA373245392	83	I>T		No	ClinGen TOPMed gnomAD
rs147255865 CA5031295	84	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147255865 CA5031294	84	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5031296 rs759178118	85	E>D		No	ClinGen ExAC gnomAD
CA373245432 rs1283781097	86	A>T		No	ClinGen TOPMed
rs977224797 CA192601144	89	K>E		No	ClinGen TOPMed gnomAD
CA373245540 rs1432032787	90	V>G		No	ClinGen gnomAD
CA5031298 rs775001722	90	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5031299 rs762243114	91	N>Y		No	ClinGen ExAC gnomAD
rs1563919953 CA373245606	92	S>C		No	ClinGen Ensembl
CA373245655 rs1292057622	94	S>G		No	ClinGen TOPMed
CA5031300 rs768019494	95	G>S		No	ClinGen ExAC gnomAD
CA5031301 rs140809861	96	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373245712 rs1587878845	96	P>T		No	ClinGen Ensembl
rs200899491 CA5031305	99	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766828858 CA5031303	99	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778872022 CA5031306	100	S>N		No	ClinGen ExAC TOPMed gnomAD
rs752772231 CA5031307	100	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5031308 rs758296334	102	M>V		No	ClinGen ExAC gnomAD
rs149805302 CA5031309	105	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA373245927 rs1308146573	105	S>P		No	ClinGen gnomAD
rs565437647 CA5031311	106	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1271702139 CA373245974	107	T>S		No	ClinGen gnomAD
rs1223600162 CA373245972	107	T>S		No	ClinGen gnomAD
CA5031313 rs745526257	109	S>G		No	ClinGen ExAC gnomAD
rs769383914 CA5031314	110	T>I		No	ClinGen ExAC
CA192601187 rs78053296	110	T>P		No	ClinGen Ensembl
CA5031315 rs774889449	111	A>V		No	ClinGen ExAC gnomAD
rs768020010 CA5031317 CA373246101	113	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748793231 CA5031316	113	M>V		No	ClinGen ExAC gnomAD
rs145771010 CA5031318	117	I>V		No	ClinGen ESP ExAC gnomAD
rs1291560729 CA373246227	119	P>R		No	ClinGen gnomAD
rs766853050 CA5031320	122	A>T		No	ClinGen ExAC gnomAD
CA192601235 rs542392560	123	S>N		No	ClinGen gnomAD
CA5031321 rs777077356	126	H>L		No	ClinGen ExAC gnomAD
CA5031323 rs765455236	128	S>C		No	ClinGen ExAC gnomAD
TCGA novel	130	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373246533 rs979659923	134	R>L		No	ClinGen gnomAD
rs979659923 CA192601252	134	R>Q		No	ClinGen gnomAD
CA5031326 rs764064548	135	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5031327 rs764064548	135	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5031329 rs377595940	137	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA192601263 rs146624679	139	A>T		No	ClinGen ESP TOPMed
rs199903252 CA5031330	140	T>A		No	ClinGen 1000Genomes ExAC
CA192601266 rs751433711	140	T>M		No	ClinGen Ensembl
CA5031331 rs755753825	141	K>Q		No	ClinGen ExAC gnomAD
rs1448558604 CA373246695	143	K>Q		No	ClinGen gnomAD
rs1563920252	143	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA192601275 rs141469627	148	P>L		No	ClinGen ESP TOPMed gnomAD
CA192601279 rs141469627	148	P>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	149	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773929697 CA5031335	150	I>M		No	ClinGen ExAC gnomAD
rs768272492 CA5031334	150	I>V		No	ClinGen ExAC TOPMed gnomAD
CA373246884 COSM1737202 rs1345672728	152	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1387986286 CA373246947	154	F>L		No	ClinGen TOPMed
TCGA novel	158	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5031337 rs138540966	161	C>F		No	ClinGen ESP ExAC
CA373247092 rs138540966	161	C>Y		No	ClinGen ESP ExAC
TCGA novel	164	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA192601304 rs1033917801	167	D>E		No	ClinGen TOPMed
CA5031340 rs765492874	168	N>Y		No	ClinGen ExAC gnomAD
CA192601312 rs562285027	169	L>M		No	ClinGen TOPMed gnomAD
CA192601320 rs1056535242	173	T>S		No	ClinGen TOPMed
rs1563920368 CA373247505	175	D>N		No	ClinGen Ensembl
TCGA novel	178	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777537431 CA5031344	185	V>A		No	ClinGen ExAC gnomAD
rs777537431 CA5031343	185	V>G		No	ClinGen ExAC gnomAD
CA373247777 rs1183871869	189	G>R		No	ClinGen gnomAD
CA192601349 rs888018595	190	P>T		No	ClinGen gnomAD
CA373247925 rs1238795785	194	Q>R		No	ClinGen gnomAD
CA5031345 rs140180675	198	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373248032 rs1302950152	199	N>D		No	ClinGen TOPMed gnomAD
rs1156822086 CA373248056	200	L>S		No	ClinGen gnomAD
rs150314272 CA5031346	200	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336439429 CA373248091	202	R>T		No	ClinGen gnomAD
CA5031348 rs755986740	206	G>R		No	ClinGen ExAC gnomAD
CA5031350 rs753594887	207	S>F		No	ClinGen ExAC gnomAD
CA373248151 rs1344039244	207	S>T		No	ClinGen TOPMed
rs1352705378 CA373248166	208	V>M		No	ClinGen gnomAD
CA373248189 rs1268027281	209	L>F		No	ClinGen gnomAD
rs1327888890 CA373248246	213	E>G		No	ClinGen gnomAD
rs1587879735 CA373248265	214	V>G		No	ClinGen Ensembl
rs1280303023 CA373248258	214	V>I		No	ClinGen gnomAD
COSM1497070 rs370224733 CA192601394	216	A>T	kidney [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA5031354 rs368507896	220	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs137993779 CA5031353	220	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1400711204 CA373248376	222	T>A		No	ClinGen TOPMed
TCGA novel	224	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574197954 CA5031356	226	K>R		No	ClinGen ExAC gnomAD
rs1411096636 CA373248459	228	L>F		No	ClinGen gnomAD
CA5031357 rs770258434	229	H>P		No	ClinGen ExAC
rs1302708877 CA373248470	229	H>Q		No	ClinGen TOPMed
rs1480809701 CA373248490	232	N>S		No	ClinGen gnomAD
TCGA novel	233	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5031358 rs201070690	236	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763253925 CA5031359	239	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5031360 rs768714895	243	C>Y		No	ClinGen ExAC gnomAD
rs1329751411 CA373248615	244	E>G		No	ClinGen gnomAD
CA373248645 rs1288304531	246	M>I		No	ClinGen gnomAD
CA5031361 rs12551345	246	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761921157 CA5031362	247	S>L		No	ClinGen ExAC gnomAD
CA5031363 rs781120268	251	K>R		No	ClinGen ExAC gnomAD
rs184935108 CA5031364	253	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421477758 CA373248731	254	L>R		No	ClinGen TOPMed
CA5031366 rs766207887	255	P>S		No	ClinGen ExAC gnomAD
CA5031367 rs753525957	256	P>A		No	ClinGen ExAC TOPMed gnomAD
rs147194833 CA5031369	256	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	256	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753525957 CA373248749	256	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5031368 rs753525957	256	P>T		No	ClinGen ExAC TOPMed gnomAD
CA192601471 rs991996408	257	I>L		No	ClinGen Ensembl
rs1251009906 CA373248759	257	I>T		No	ClinGen gnomAD
CA373248763 rs1433756168	258	P>A		No	ClinGen TOPMed gnomAD
rs1284944341 CA373248768	258	P>R		No	ClinGen TOPMed
rs777414852 CA5031372	260	V>G		No	ClinGen ExAC gnomAD
CA5031371 rs758036395	260	V>I		No	ClinGen ExAC gnomAD
CA5031373 rs189497756	262	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5031374 rs770143676	265	S>A		No	ClinGen ExAC gnomAD
CA373248833 rs1392212814	265	S>F		No	ClinGen gnomAD
TCGA novel	266	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5031375 rs780492709	267	S>C		No	ClinGen ExAC TOPMed gnomAD
CA373248842 rs780492709	267	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA192601494 rs745404379	270	K>T		No	ClinGen Ensembl
CA5031376 rs749580105	271	L>F		No	ClinGen ExAC gnomAD
CA5031377 rs768981531	272	D>N		No	ClinGen ExAC gnomAD
TCGA novel rs768981531 CA373248871	272	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA ExAC gnomAD
rs921176588 CA192601501	273	S>A		No	ClinGen TOPMed
rs147238897 CA5031380	273	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs147238897 CA5031379	273	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1164635267 CA373248884	274	D>G		No	ClinGen TOPMed
rs371124885 CA5031381	277	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA373248951 rs1587880227	279	K>E		No	ClinGen Ensembl
rs1343789335 CA373248969	280	T>I		No	ClinGen gnomAD
CA373248978 rs1225706196	281	A>D		No	ClinGen gnomAD
TCGA novel	282	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs902782249 CA192601521	282	K>N		No	ClinGen Ensembl
rs1367360557 CA373249000	283	L>M		No	ClinGen TOPMed
CA5031383 rs766186080	284	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA192601530 rs887760389	285	S>G		No	ClinGen Ensembl
rs749583838 CA192601532	285	S>N		No	ClinGen TOPMed gnomAD
rs1265117533 CA373249057	287	F>L		No	ClinGen gnomAD
rs1189221469 CA373249077	288	H>Q		No	ClinGen TOPMed gnomAD
COSM1108415 rs142114254 CA5031385	288	H>R	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1163139553 CA373249096	290	T>A		No	ClinGen gnomAD
CA373249103 rs1250149321	290	T>I		No	ClinGen gnomAD
COSM1108416 rs752462139 CA5031387	294	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs758054851 CA5031388	294	R>H		No	ClinGen ExAC gnomAD
rs763713826 CA5031389	295	N>D		No	ClinGen ExAC gnomAD
CA5031391 rs757413846	297	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780469842 CA5031392	300	N>K		No	ClinGen ExAC gnomAD
rs749780991 CA5031393	301	S>F		No	ClinGen ExAC TOPMed gnomAD
CA373249251 rs1432496591	302	L>V		No	ClinGen gnomAD
rs755393660 CA5031394	304	P>A		No	ClinGen ExAC gnomAD
CA5031395 rs779246016	306	T>I		No	ClinGen ExAC gnomAD
rs1263613276 CA373249338	309	S>G		No	ClinGen gnomAD
CA5031397 rs772231694	309	S>R		No	ClinGen ExAC gnomAD
CA5031396 rs748376703	309	S>T		No	ClinGen ExAC gnomAD
rs1250024252 CA373249363	311	S>G		No	ClinGen TOPMed gnomAD
rs562796508 CA5031398	312	E>D		No	ClinGen ExAC gnomAD
CA5031399 rs183608636	314	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs771020945 CA5031400	316	H>R		No	ClinGen ExAC TOPMed gnomAD
rs140745622 CA5031401	317	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765125121 CA5031403	318	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5031405 rs775364956	318	T>I		No	ClinGen ExAC gnomAD
rs765125121 CA373249469	318	T>S		No	ClinGen ExAC TOPMed gnomAD
rs775364956 CA5031404	318	T>S		No	ClinGen ExAC gnomAD
rs575942985 CA5031406	319	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373249484 rs1325178598	319	L>P		No	ClinGen TOPMed
rs756770238 CA5031408	321	L>F		No	ClinGen ExAC gnomAD
rs1403218566 CA373249508	321	L>P		No	ClinGen TOPMed
CA5031409 rs561387310	322	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1563921098 CA587567602	330	T>L		No	ClinGen Ensembl
TCGA novel	331	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5031413 CA5031414 rs551328141	332	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5031412 rs779264541	332	M>T		No	ClinGen ExAC gnomAD
rs777906336 CA5031415	333	P>A		No	ClinGen ExAC gnomAD
CA373249589 rs1327200566	333	P>L		No	ClinGen gnomAD
CA5031416 rs756365178	334	A>T		No	ClinGen ExAC gnomAD
CA373249597 rs1256822534	335	L>M		No	ClinGen gnomAD
rs776703270 CA5031418	337	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5031417 rs770979453	337	S>P		No	ClinGen ExAC gnomAD
rs1038566801 CA192601596	340	M>I		No	ClinGen TOPMed
rs1158327868 CA373249636	341	P>S		No	ClinGen TOPMed
CA192601597 rs1051913055	343	L>F		No	ClinGen Ensembl
rs769808151 CA5031420	343	L>P		No	ClinGen ExAC gnomAD
CA5031422 rs762885127	345	V>F		No	ClinGen ExAC gnomAD
CA5031423 rs762885127	345	V>L		No	ClinGen ExAC gnomAD
rs1359223198 CA373249666	346	L>S		No	ClinGen gnomAD
rs773933890 CA5031424	348	V>L		No	ClinGen ExAC gnomAD
TCGA novel	350	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290140743 CA373249831	355	P>L		No	ClinGen TOPMed gnomAD
rs1290140743 CA373249829	355	P>R		No	ClinGen TOPMed gnomAD
CA373249844 rs1252554742	356	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
VAR_034577 rs16935457 CA5031428	357	N>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1313999721 CA373249878	359	G>S		No	ClinGen gnomAD
CA373249922 rs1266846810	360	P>L		No	ClinGen TOPMed
CA5031429 rs189479928	361	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	362	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373253248 rs1188887328	362	V>I		No	ClinGen gnomAD
rs1363532320 CA373253260	363	T>A		No	ClinGen TOPMed gnomAD
rs765857824 CA5031450	364	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1170058153 CA373253272	364	P>S		No	ClinGen gnomAD
rs753265240 CA5031451	368	S>L		No	ClinGen ExAC gnomAD
rs955341922 CA373253424	372	V>L		No	ClinGen TOPMed gnomAD
rs955341922 CA192604459	372	V>M		No	ClinGen TOPMed gnomAD
rs764378084 CA5031453	373	P>L		No	ClinGen ExAC gnomAD
rs371983071 CA5031455	375	M>I		No	ClinGen ESP ExAC gnomAD
rs1390068015 CA373253466	375	M>R		No	ClinGen TOPMed
CA5031454 rs751901708	375	M>V		No	ClinGen ExAC gnomAD
CA373253505 rs1339171964	377	S>T		No	ClinGen gnomAD
CA373253519 rs1229178992	378	C>Y		No	ClinGen TOPMed gnomAD
CA5031457 rs750652890	380	Q>H		No	ClinGen ExAC
rs113656539 CA192604473	380	Q>L		No	ClinGen Ensembl
CA373253574 rs1320499560	381	A>P		No	ClinGen gnomAD
TCGA novel	381	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373253605 rs1272029618	382	Y>H		No	ClinGen gnomAD
rs1587892620 CA373253607	382	Y>S		No	ClinGen Ensembl
rs749245353 CA5031460	385	L>P		No	ClinGen ExAC TOPMed gnomAD
CA373253669 rs749245353	385	L>R		No	ClinGen ExAC TOPMed gnomAD
CA373253726 rs1190140711	387	M>V		No	ClinGen gnomAD
rs768583574 CA5031461	389	S>F		No	ClinGen ExAC TOPMed gnomAD
CA373253828 rs1182174486	390	P>H		No	ClinGen gnomAD
CA5031462 rs778597980	390	P>S		No	ClinGen ExAC TOPMed gnomAD
CA373253855 rs1403603284	391	S>N		No	ClinGen gnomAD
rs748012757 CA5031463	391	S>R		No	ClinGen ExAC TOPMed gnomAD
rs772904630 CA5031465	392	E>K		No	ClinGen ExAC TOPMed gnomAD
CA373253905 rs1458851856	392	E>V		No	ClinGen gnomAD
CA5031468 rs776060440 COSM608680	393	R>Q	lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767729778 CA5031467	393	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5031469 rs763390665	394	Q>*		No	ClinGen ExAC gnomAD
CA192604506 rs368109872	394	Q>R		No	ClinGen ESP TOPMed gnomAD
CA373253992 rs1233258500	395	C>F		No	ClinGen gnomAD
CA373254019 rs1289475088	396	V>M		No	ClinGen gnomAD
CA5031470 rs138812386	397	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139312253 CA5031471	398	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373254113 rs1446128632	399	V>L		No	ClinGen gnomAD
rs992154836 CA192604511	402	M>V		No	ClinGen Ensembl
rs1239030088 CA373254262	403	G>D		No	ClinGen gnomAD
rs756342337 CA5031475	405	S>L		No	ClinGen ExAC gnomAD
rs1587892855 CA373254299	405	S>T		No	ClinGen Ensembl
rs778956133 CA5031479	407	E>A		No	ClinGen ExAC gnomAD
CA5031478 rs777982871	407	E>K		No	ClinGen ExAC gnomAD
CA192604538 rs778956133	407	E>V		No	ClinGen ExAC gnomAD
CA373254601 rs1415293865	412	A>V		No	ClinGen gnomAD
CA5031480 rs748019630	413	M>T		No	ClinGen ExAC gnomAD
rs765356656 CA192604548	414	K>N		No	ClinGen Ensembl
CA373254686 rs1563924907	416	K>E		No	ClinGen Ensembl
rs146620671 CA5031481	418	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs746678151 CA5031483	420	I>S		No	ClinGen ExAC gnomAD
rs1352809406 CA373254796	421	E>K		No	ClinGen gnomAD
rs1272990916 CA373254835	422	Q>H		No	ClinGen TOPMed gnomAD
CA373254826 rs1227081826	422	Q>R		No	ClinGen TOPMed gnomAD
rs771407451 CA5031511	423	I>N		No	ClinGen ExAC gnomAD
rs761164267 CA5031510	423	I>V		No	ClinGen ExAC
CA373255026 rs1563925532	425	D>G		No	ClinGen Ensembl
CA5031513 rs753301456	425	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752671166 CA5031515	428	F>I		No	ClinGen ExAC
CA373255101 rs1386682691	429	A>V		No	ClinGen TOPMed
CA373255120 rs762908362	430	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA373255113 rs1158582642	430	H>R		No	ClinGen TOPMed
rs1167877469 CA373255109	430	H>Y		No	ClinGen gnomAD
rs1189998494 CA373255134	431	G>A		No	ClinGen TOPMed
rs1477983258 CA373255157	433	L>F		No	ClinGen TOPMed
CA5031518 rs751477831	436	K>R		No	ClinGen ExAC
TCGA novel	437	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1108418 CA5031522 rs755668109	439	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs568545765 CA5031524	441	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5031523 rs568545765	441	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373255299 rs1250708076	442	L>V		No	ClinGen gnomAD
rs368927286 CA192605041	444	E>G		No	ClinGen ESP TOPMed
rs1211564187 CA373255364	445	E>D		No	ClinGen gnomAD
TCGA novel	445	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5031526 rs778478644	449	M>I		No	ClinGen ExAC TOPMed gnomAD
rs747511224 CA5031527	450	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1250091228 CA373255434	451	Q>R		No	ClinGen gnomAD
CA5031529 rs776798377	452	C>R		No	ClinGen ExAC TOPMed gnomAD
CA5031530 rs759826275	452	C>Y		No	ClinGen ExAC gnomAD
CA5031531 rs769867086	455	E>K		No	ClinGen ExAC gnomAD
TCGA novel	456	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5031571 rs573783161	457	M>I		No	ClinGen ExAC TOPMed gnomAD
rs748220208 CA5031574	458	M>I		No	ClinGen ExAC gnomAD
CA5031572 rs143936535	458	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367993166 CA5031573	458	M>T		No	ClinGen ESP ExAC gnomAD
CA192605372 rs1052590463	464	M>I		No	ClinGen TOPMed gnomAD
CA5031575 rs772171759	464	M>T		No	ClinGen ExAC gnomAD
CA192605388 rs148277146	466	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5031577 rs148277146	466	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5031578 rs766287171	469	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5031579 rs776514900	477	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5031581 rs371642951	479	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405771873 CA373256964	480	V>A		No	ClinGen TOPMed
TCGA novel	481	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763653955 CA5031584	484	H>Y		No	ClinGen ExAC TOPMed
rs556099212 CA5031585	485	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5031586 rs756586247	486	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5031588 rs754165521	487	D>N		No	ClinGen ExAC gnomAD
CA373257285 rs1587897710	494	D>A		No	ClinGen Ensembl
rs965127560 CA192605432	496	M>V		No	ClinGen TOPMed gnomAD
CA5031594 rs746938366	498	R>P		No	ClinGen ExAC gnomAD
rs746938366 CA373257398	498	R>Q		No	ClinGen ExAC gnomAD
rs777849254 CA5031593	498	R>W		No	ClinGen ExAC TOPMed gnomAD
CA373257411 rs1251914265	499	A>E		No	ClinGen gnomAD
rs1251914265 CA373257417	499	A>V		No	ClinGen gnomAD
rs537789793 CA5031596	500	G>E	Variant assessed as Somatic; 4.655e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1417119466 CA373257489	501	A>V		No	ClinGen gnomAD

1 associated diseases with Q9NZ09

[MIM: 618418]: Spastic paraplegia 80, autosomal dominant (SPG80)

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:30929741, ECO:0000269|PubMed:31203368}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:30929741, ECO:0000269|PubMed:31203368}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9NZ09

Type	Name	Position	InterPro Accession
domain	Ubiquitin-associated domain	389 - 430	IPR015940-1
domain	Ubiquitin-associated domain	451 - 498	IPR015940-2
domain	UMA domain	17 - 63	IPR023340

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Endosome	Predominantly cytosolic (PubMed:21757351) Recruited to endosomes as part of the ESCRT-I complex (PubMed:21757351)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
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.
endosome membrane	The lipid bilayer surrounding an endosome.
ESCRT I complex	An endosomal sorting complex required for transport. It consists of the class E vacuolar protein sorting (Vps) proteins and interacts with ubiquitinated cargoes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

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.

4 GO annotations of biological process

Name	Definition
membrane fission	A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes.
multivesicular body assembly	The aggregation, arrangement and bonding together of a set of components to form a multivesicular body, a type of late endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm.
protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	The process of directing proteins towards the vacuole that contributes to protein catabolism via the multivesicular body (MVB) pathway.
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the multivesicular body (MVB) sorting pathway; ubiquitin-tagged proteins are sorted into MVBs, and delivered to a lysosome/vacuole for degradation.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
F5GYI3	UBAP1L	Ubiquitin-associated protein 1-like	Homo sapiens (Human)	PR
Q8BH48	Ubap1	Ubiquitin-associated protein 1	Mus musculus (Mouse)	PR
Q5XIS7	Ubap1	Ubiquitin-associated protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MASKKLGADF	HGTFSYLDDV	PFKTGDKFKT	PAKVGLPIGF	SLPDCLQVVR	EVQYDFSLEK
70	80	90	100	110	120
KTIEWAEEIK	KIEEAEREAE	CKIAEAEAKV	NSKSGPEGDS	KMSFSKTHST	ATMPPPINPI
130	140	150	160	170	180
LASLQHNSIL	TPTRVSSSAT	KQKVLSPPHI	KADFNLADFE	CEEDPFDNLE	LKTIDEKEEL
190	200	210	220	230	240
RNILVGTTGP	IMAQLLDNNL	PRGGSGSVLQ	DEEVLASLER	ATLDFKPLHK	PNGFITLPQL
250	260	270	280	290	300
GNCEKMSLSS	KVSLPPIPAV	SNIKSLSFPK	LDSDDSNQKT	AKLASTFHST	SCLRNGTFQN
310	320	330	340	350	360
SLKPSTQSSA	SELNGHHTLG	LSALNLDSGT	EMPALTSSQM	PSLSVLSVCT	EESSPPNTGP
370	380	390	400	410	420
TVTPPNFSVS	QVPNMPSCPQ	AYSELQMLSP	SERQCVETVV	NMGYSYECVL	RAMKKKGENI
430	440	450	460	470	480
EQILDYLFAH	GQLCEKGFDP	LLVEEALEMH	QCSEEKMMEF	LQLMSKFKEM	GFELKDIKEV
490	500
LLLHNNDQDN	ALEDLMARAG	AS