AiPD: Autoinhibited Protein Database

Q9NUU6

Gene name	OTULINL
Protein name	Inactive ubiquitin thioesterase OTULINL
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54491
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-54 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-54 (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 Q9NUU6

Entry ID	Method	Resolution	Chain	Position	Source
6DRM	X-ray	206 A	A	87-356	PDB
AF-Q9NUU6-F1	Predicted				AlphaFoldDB

283 variants for Q9NUU6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA359284185 rs1275609300	2	A>V		No	ClinGen gnomAD
CA359284197 rs1321214967	4	T>I		No	ClinGen gnomAD
CA359284202 rs1219380851	5	R>M		No	ClinGen TOPMed gnomAD
rs1007101690 CA114704829	6	S>G		No	ClinGen TOPMed gnomAD
CA3208132 rs375610503	6	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359284213 rs1246035837	7	P>H		No	ClinGen gnomAD
rs903611404 CA114704830	7	P>T		No	ClinGen TOPMed gnomAD
CA3208133 rs755108657	8	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1188817413 CA359284226	10	A>T		No	ClinGen gnomAD
rs1560956559 CA359284237	11	R>S		No	ClinGen Ensembl
CA359284262 rs1300796106	15	R>Q		No	ClinGen TOPMed
TCGA novel	16	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1031102891 CA114704831	17	G>C		No	ClinGen TOPMed
CA359284279 rs1383464976	18	A>D		No	ClinGen TOPMed
rs1383464976 CA359284280	18	A>G		No	ClinGen TOPMed
CA359284276 rs1388989837	18	A>T		No	ClinGen TOPMed
rs1383464976 CA359284281	18	A>V		No	ClinGen TOPMed
rs116803888 CA3208134	19	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359284287 rs1462462372	20	A>T		No	ClinGen gnomAD
rs750725885 CA3208163	23	S>R		No	ClinGen ExAC TOPMed gnomAD
CA359283541 rs1579923250	27	H>P		No	ClinGen Ensembl
rs1579923242 CA359283539	27	H>Y		No	ClinGen Ensembl
CA3208164 rs763425084	28	S>P		No	ClinGen ExAC gnomAD
CA359283558 rs1179343107	29	W>C		No	ClinGen gnomAD
CA359283565 rs1473887906	30	M>I		No	ClinGen gnomAD
CA3208165 rs766464461	30	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3208167 rs755042860	33	T>I		No	ClinGen ExAC gnomAD
rs1413063735 CA359283587	34	S>N		No	ClinGen gnomAD
TCGA novel	35	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283827129 CA359283605	36	A>V		No	ClinGen TOPMed
rs540004601 CA3208168	39	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1306068899 CA359283643	42	R>K		No	ClinGen TOPMed
rs1352378468 CA359283657	44	A>T		No	ClinGen gnomAD
CA359283673 rs1287721068	46	G>S		No	ClinGen gnomAD
rs1428998653 CA359283676	46	G>V		No	ClinGen TOPMed
CA359283678 rs1274169896	47	F>L		No	ClinGen gnomAD
rs1371136399 CA359283697	49	M>I		No	ClinGen TOPMed
CA3208172 rs370014041	50	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3208173 rs749011226	51	A>T		No	ClinGen ExAC gnomAD
CA359283718 rs770779731	53	S>P		No	ClinGen ExAC gnomAD
rs770779731 CA3208174	53	S>T		No	ClinGen ExAC gnomAD
rs909932840 CA114707119	55	L>R		No	ClinGen Ensembl
rs116219787 CA3208175	56	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	57	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3208176 rs745535313	57	A>V		No	ClinGen ExAC TOPMed gnomAD
rs141336994 CA3208177	58	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA114707120 rs922870124	59	I>T		No	ClinGen TOPMed gnomAD
rs76754467 CA3208179	60	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1049947806 CA114707121	61	Y>C		No	ClinGen TOPMed
CA359283763 rs1193232588	61	Y>H		No	ClinGen gnomAD
CA3208181 rs145378226	63	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs114798212 CA3208180	63	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs951380416 CA114707123	64	R>K		No	ClinGen TOPMed
rs1410548635 CA359283789	65	L>P		No	ClinGen gnomAD
CA359283796 rs1229137278	66	H>R		No	ClinGen TOPMed
CA359283819 rs1357650166	69	S>*		No	ClinGen TOPMed
TCGA novel	69	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	72	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767824262 CA3208205	75	W>*		No	ClinGen ExAC gnomAD
rs775873839 CA3208206	76	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1309000587 CA359283889	77	I>M		No	ClinGen TOPMed
rs377490621 CA3208207	78	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA3208208 rs764236257	80	L>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	80	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3208209 rs147673688	81	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs376769796 CA114707127	84	F>C		No	ClinGen Ensembl
CA3208210 rs372117896	84	F>L		No	ClinGen ExAC gnomAD
rs1410056599 CA359283989	91	E>K		No	ClinGen gnomAD
CA359284007 rs1362427581	93	E>G		No	ClinGen TOPMed
rs972737357 CA114707131	94	V>I		No	ClinGen Ensembl
TCGA novel	95	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3208231 rs776743984	96	L>V		No	ClinGen ExAC gnomAD
CA3208234 rs115257682	99	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1364225358 CA359284044	99	Y>N		No	ClinGen gnomAD
CA114707133 rs934283500	100	C>Y		No	ClinGen TOPMed gnomAD
rs1560965236 CA359284081	104	W>R		No	ClinGen Ensembl
COSM4141538 rs1306926249 CA359284100	106	G>A	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	106	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766175770 CA3208236	109	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	109	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780745750 CA3208239	110	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3208240 rs568811741	110	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA114707134 rs568811741	110	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388435872 CA359284132	112	K>Q		No	ClinGen TOPMed
rs1254504734 CA359284136	112	K>R		No	ClinGen gnomAD
CA3208241 rs755600981	113	L>M		No	ClinGen ExAC TOPMed gnomAD
rs779519601 CA359284145	114	M>L		No	ClinGen ExAC TOPMed gnomAD
rs779519601 CA3208242	114	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3208244 rs200140750	115	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA359284155 rs1178891946	115	R>S		No	ClinGen gnomAD
CA3208243 rs140768979	115	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1579924206 CA359284314	117	A>T		No	ClinGen Ensembl
CA114707207 rs113242974	119	E>G		No	ClinGen Ensembl
rs758946237 CA3208266	120	E>K		No	ClinGen ExAC gnomAD
rs768937348 CA359284366	124	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768937348 CA3208269	124	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747354708 CA3208268	124	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM3365902 rs144733724 CA3208270	126	H>N	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1050857858 CA114707208	126	H>R		No	ClinGen Ensembl
rs1011146465 CA114707209	127	I>T		No	ClinGen TOPMed gnomAD
rs748332389 CA3208271	127	I>V		No	ClinGen ExAC gnomAD
rs1296436484 CA359284389	128	K>T		No	ClinGen gnomAD
rs891235736 CA114707210 COSM1063859	131	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs773276642 CA3208273	131	R>Q		No	ClinGen ExAC gnomAD
rs749409435 CA3208274	133	V>A		No	ClinGen ExAC gnomAD
CA359284419 rs367770838	133	V>I		No	ClinGen ESP TOPMed gnomAD
CA114707211 rs367770838	133	V>L		No	ClinGen ESP TOPMed gnomAD
rs1245937607 CA359284432	135	R>K		No	ClinGen TOPMed gnomAD
rs770831747 CA3208275	136	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3208276 rs6875531	137	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3208277 rs114672257	139	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421483443 CA359284469	140	A>T		No	ClinGen TOPMed gnomAD
rs1420599016 CA359284474	141	L>V		No	ClinGen gnomAD
CA3208279 rs116207901 CA3208280	143	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3208278 rs767217886	143	S>P		No	ClinGen ExAC TOPMed gnomAD
CA359284503 rs199720349	146	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3208282 rs199720349	146	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA359284515 rs1450077364	147	Q>H		No	ClinGen TOPMed
CA359284518 rs1348290277	148	I>V		No	ClinGen gnomAD
rs756853225 CA3208283	149	F>L		No	ClinGen ExAC gnomAD
CA359284543 rs1378556337	151	Q>R		No	ClinGen gnomAD
CA114707213 rs959082569	152	G>D		No	ClinGen TOPMed gnomAD
rs1272785720 CA359284547	152	G>S		No	ClinGen TOPMed
rs116666867 CA3208284	154	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1266083995 CA359284574	156	P>Q		No	ClinGen gnomAD
CA3208287 COSM1695468 rs374030566	156	P>S	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs200853586 CA114707214	157	S>P		No	ClinGen 1000Genomes
rs199518529 CA114707215	158	W>*		No	ClinGen 1000Genomes
rs748615470 CA3208290	158	W>R		No	ClinGen ExAC gnomAD
CA359284592 rs1236463841	159	M>K		No	ClinGen TOPMed gnomAD
rs1482007378 CA359284609	161	E>A		No	ClinGen gnomAD
CA3208291 rs145808843	163	D>E		No	ClinGen ESP ExAC TOPMed
CA3208292 rs778016855	164	I>V		No	ClinGen ExAC gnomAD
CA114707844 rs771870719	168	P>H		No	ClinGen ExAC TOPMed gnomAD
rs771870719 CA3208315	168	P>L		No	ClinGen ExAC TOPMed gnomAD
rs371604811 CA3208316	169	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	171	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3208318 rs768580216	175	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1340854246 CA359284752	180	I>S		No	ClinGen TOPMed gnomAD
CA359284758 rs1202362721	181	Q>L		No	ClinGen gnomAD
CA359284759 rs1202362721	181	Q>R		No	ClinGen gnomAD
rs1440108528 CA359284770	183	Y>D		No	ClinGen gnomAD
rs114879278 CA3208321	184	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA114707845 rs990641617	189	K>N		No	ClinGen TOPMed
CA359284829 rs1237840845	191	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1063866 CA3208324 rs762575070	193	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3208325 rs1214219542	194	N>S		No	ClinGen TOPMed
CA359284857 rs1450345316	195	V>E		No	ClinGen TOPMed
rs1299640537 CA359284852	195	V>M		No	ClinGen TOPMed
CA3208329 rs760962442	200	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3208328 rs753277143	200	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA359284897 rs1560967779	202	Y>H		No	ClinGen Ensembl
CA359284905 rs1326213466	203	V>M		No	ClinGen gnomAD
CA3208334 rs779233216	204	E>G		No	ClinGen ExAC gnomAD
rs779793128 CA3208337	208	T>I		No	ClinGen ExAC gnomAD
rs1181704607 CA359284940	208	T>P		No	ClinGen gnomAD
rs866459657 CA114707848	209	Q>H		No	ClinGen Ensembl
CA3208361 rs747905234	210	W>*		No	ClinGen ExAC gnomAD
CA3208362 rs747905234	210	W>C		No	ClinGen ExAC gnomAD
rs975452624 CA114707975	212	E>G		No	ClinGen Ensembl
rs777223750 CA3208363	213	F>L		No	ClinGen ExAC gnomAD
CA359284990 rs1300326810	214	N>D		No	ClinGen TOPMed
rs375644202 CA3208365	216	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs778060841 CA114707976	217	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3208366 rs541384204	219	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359285044 rs892695664	221	K>N		No	ClinGen TOPMed gnomAD
CA3208368 rs559855564	224	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA359285070 rs569686210	225	M>R		No	ClinGen gnomAD
CA114707978 rs569686210	225	M>T		No	ClinGen gnomAD
CA359285098 rs1409858203	229	L>V		No	ClinGen TOPMed
CA3208374 rs150604883	230	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	231	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3208375 rs766748110	231	S>T		No	ClinGen ExAC
rs749475791 CA114707979	232	D>V		No	ClinGen Ensembl
TCGA novel	233	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767519708 CA3208378	234	I>T		No	ClinGen ExAC TOPMed gnomAD
CA359285128 rs1473077099	234	I>V		No	ClinGen TOPMed
rs552375238 CA114707981	238	K>N		No	ClinGen 1000Genomes
rs141442803 CA3208379	239	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1215499691 CA359285170	240	Y>C		No	ClinGen TOPMed
CA359285167 rs1295576352	240	Y>H		No	ClinGen TOPMed gnomAD
rs1417102812 CA359285175	241	E>K		No	ClinGen gnomAD
rs1417102812 CA359285176	241	E>Q		No	ClinGen gnomAD
rs755806851 CA3208380	242	A>V		No	ClinGen ExAC
rs1579928463 CA359285232	249	Y>H		No	ClinGen Ensembl
rs1560968369 CA359285240	250	Q>E		No	ClinGen Ensembl
rs960927010 CA114707982	250	Q>P		No	ClinGen TOPMed gnomAD
rs1287237497 CA359285250	251	V>A		No	ClinGen TOPMed
CA3208382 rs74815459	252	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359285269 rs1579928489	254	V>G		No	ClinGen Ensembl
CA3208383 rs756899756	258	M>I		No	ClinGen ExAC gnomAD
CA359285299 rs1171349245	258	M>T		No	ClinGen gnomAD
rs778583060 CA3208384	260	T>A		No	ClinGen ExAC gnomAD
rs745330501 CA3208386	261	K>*		No	ClinGen ExAC
rs1034020136 CA114707983	262	K>E		No	ClinGen Ensembl
rs1337203636 CA359285333	263	V>A		No	ClinGen TOPMed
CA3208387 rs771577828	263	V>F		No	ClinGen ExAC gnomAD
rs1336724667 CA359285341	264	I>M		No	ClinGen gnomAD
CA3208388 rs777068059	265	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1350180798 CA359285349	266	S>C		No	ClinGen TOPMed gnomAD
CA359285348 rs1350180798	266	S>G		No	ClinGen TOPMed gnomAD
CA3208390 rs770276159	267	L>P		No	ClinGen ExAC gnomAD
rs1250808046 CA359285361	268	F>L		No	ClinGen TOPMed gnomAD
CA359285362 rs1250808046	268	F>V		No	ClinGen TOPMed gnomAD
TCGA novel	269	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479639668 CA359285374	269	R>S		No	ClinGen gnomAD
rs1197477554 CA359285378	270	L>H		No	ClinGen gnomAD
CA3208392 rs763277192	274	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3208393 rs536653353	274	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA359285413 rs1396470329	276	T>S		No	ClinGen gnomAD
rs142414423 CA3208394	277	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3208396 rs767715657	278	S>F		No	ClinGen ExAC gnomAD
rs144712751 CA3208397	283	F>L		No	ClinGen ESP ExAC TOPMed
CA359285486 rs1460979652	286	N>S		No	ClinGen gnomAD
CA3208399 rs138585294	288	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753645156 CA3208400	290	S>F		No	ClinGen ExAC gnomAD
COSM74573 rs181133009 CA3208402	293	D>N	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3208404 rs750090519	294	T>K		No	ClinGen ExAC TOPMed
CA359285538 rs750090519	294	T>R		No	ClinGen ExAC TOPMed
CA359285541 rs1235256158	295	C>R		No	ClinGen gnomAD
CA359285544 rs1295029082	295	C>S		No	ClinGen gnomAD
CA359285546 rs1295029082	295	C>Y		No	ClinGen gnomAD
rs1305824540 CA359285556	297	L>V		No	ClinGen gnomAD
CA3208405 rs758105425	298	E>G		No	ClinGen ExAC gnomAD
rs372358168 CA3208406	299	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA359285568 rs372358168	299	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs775595526 CA3208434	300	I>V		No	ClinGen ExAC gnomAD
CA3208435 rs568330735	301	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359285600 rs1421834101	302	M>V		No	ClinGen TOPMed
CA359285628 rs1374095447	305	L>P		No	ClinGen TOPMed
CA3208436 rs768633119	306	G>A		No	ClinGen ExAC TOPMed
TCGA novel	306	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA114708144 rs144591815	307	Y>C		No	ClinGen ESP TOPMed gnomAD
CA359285643 rs1560969123	308	S>A		No	ClinGen Ensembl
CA359285644 rs1355864411	308	S>Y		No	ClinGen TOPMed gnomAD
rs776831885 CA3208440	309	L>F		No	ClinGen ExAC TOPMed gnomAD
CA359285653 rs1219085563	310	E>Q		No	ClinGen TOPMed
rs1304564673 CA359285660	311	V>I		No	ClinGen gnomAD
CA359285667 rs1318407410	312	K>E		No	ClinGen gnomAD
CA3208441 rs761735174	312	K>N		No	ClinGen ExAC gnomAD
CA3208443 rs765199200	315	V>A		No	ClinGen ExAC gnomAD
CA359285688 rs1209371356	315	V>M		No	ClinGen gnomAD
CA114708146 rs145577314	316	F>L		No	ClinGen 1000Genomes gnomAD
rs1484567340 CA359285704	317	R>T		No	ClinGen TOPMed
CA3208444 rs772973838	318	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1406209469 CA359285708	318	L>V		No	ClinGen gnomAD
CA359285717 rs16903574 VAR_030281 CA3208445	319	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
CA359285735 rs1432875537	322	N>D		No	ClinGen gnomAD
CA3208447 rs751178272	324	R>G		No	ClinGen ExAC gnomAD
rs1362043129 CA359285750	324	R>T		No	ClinGen TOPMed
TCGA novel	325	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359285756 rs1234191456	325	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA359285759 rs1359717246	325	D>V		No	ClinGen gnomAD
CA114708148 rs1038084565	326	F>V		No	ClinGen TOPMed
CA3208449 rs371932832	328	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114249604 CA3208450	329	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752319072 CA3208451	329	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA359285789 rs1345146980	330	Y>H		No	ClinGen gnomAD
CA114708149 rs886733662	331	P>S		No	ClinGen Ensembl
rs1280377025 CA359285821	334	P>R		No	ClinGen gnomAD
CA3208453 rs779611960	335	L>F		No	ClinGen ExAC gnomAD
rs1168971911 CA359285828	336	R>G		No	ClinGen TOPMed
rs746186562 CA3208454	337	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1196101239 CA359285852	339	P>A		No	ClinGen TOPMed
COSM1434968 CA3208455 rs200513203	339	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed
CA359285862 rs1484119524	340	E>D		No	ClinGen TOPMed
rs1051937046 CA114708150	340	E>Q		No	ClinGen TOPMed
CA359285864 rs1249478192	341	I>V		No	ClinGen TOPMed
rs747187228 CA3208458	342	S>F		No	ClinGen ExAC gnomAD
TCGA novel	342	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147235462 CA3208459	345	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1063879 CA3208462 rs769673611	346	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200087013 CA114708152	347	N>D		No	ClinGen Ensembl
CA359285901 rs996320968	347	N>S		No	ClinGen TOPMed
CA114708153 rs996320968	347	N>T		No	ClinGen TOPMed
CA3208464 rs762672624	348	D>A		No	ClinGen ExAC gnomAD
rs1028096409 CA114708154	348	D>Y		No	ClinGen Ensembl
rs199613650 CA3208465	349	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3208466 rs199613650	349	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1259006989 CA359285914	350	H>N		No	ClinGen gnomAD
CA3208468 rs767235893	352	H>Y		No	ClinGen ExAC gnomAD
CA359285950 rs1445884810	355	V>I		No	ClinGen TOPMed gnomAD
CA359285965 rs1274986023	357	F>Q		No	ClinGen gnomAD

No associated diseases with Q9NUU6

No regional properties for Q9NUU6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NUU6

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Endoplasmic reticulum membrane ; Peripheral membrane protein Nucleus envelope
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extrinsic component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
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

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96BN8	OTULIN	Ubiquitin thioesterase otulin	Homo sapiens (Human)	PR
Q3TVP5	Otulinl	Inactive ubiquitin thioesterase OTULINL	Mus musculus (Mouse)	PR
Q3B7D8	Otulinl	Inactive ubiquitin thioesterase OTULINL	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAATRSPTRA	RERERSGAPA	AGSDQVHSWM	LATSQALDTV	WRMAKGFVML	AVSFLVAAIC
70	80	90	100	110	120
YFRRLHLYSG	HKLKWWIGYL	QRKFKRNLSV	EAEVDLLSYC	AREWKGETPR	NKLMRKAYEE
130	140	150	160	170	180
LFWRHHIKCV	RQVRRDNYDA	LRSVLFQIFS	QGISFPSWMK	EKDIVKLPEK	LLFSQGCNWI
190	200	210	220	230	240
QQYSFGPEKY	TGSNVFGKLR	KYVELLKTQW	TEFNGIRDYH	KRGSMCNTLF	SDAILEYKLY
250	260	270	280	290	300
EALKFIMLYQ	VTEVYEQMKT	KKVIPSLFRL	LFSRETSSDP	LSFMMNHLNS	VGDTCGLEQI
310	320	330	340	350
DMFILGYSLE	VKIKVFRLFK	FNSRDFEVCY	PEEPLRDWPE	ISLLTENDRH	YHIPVF