AiPD: Autoinhibited Protein Database

Q8NFQ8

Gene name	TOR1AIP2 (IFRG15, LULL1)
Protein name	Torsin-1A-interacting protein 2
Names	Lumenal domain-like LAP1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:163590
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

116-202 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

116-202 (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 Q8NFQ8

Entry ID	Method	Resolution	Chain	Position	Source
5J1S	X-ray	140 A	B	233-470	PDB
5J1T	X-ray	140 A	B	233-470	PDB
AF-Q8NFQ8-F1	Predicted				AlphaFoldDB

344 variants for Q8NFQ8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1268543 rs141367403	3	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1268544 rs141367403	3	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1268541 rs769422469	5	G>R		No	ClinGen ExAC gnomAD
rs745572608 CA1268540	6	L>F		No	ClinGen ExAC gnomAD
CA33690138 rs1049633033	6	L>P		No	ClinGen TOPMed
CA33690132 rs991581607	7	R>G		No	ClinGen TOPMed
rs780838380 CA1268539	7	R>K		No	ClinGen ExAC TOPMed gnomAD
CA343572592 rs1157125368	9	P>L		No	ClinGen TOPMed gnomAD
rs758690735 CA1268538	9	P>T		No	ClinGen ExAC gnomAD
TCGA novel	10	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753062169 CA1268537	11	E>*		No	ClinGen ExAC gnomAD
CA343572568 rs1265328190	11	E>V		No	ClinGen gnomAD
CA1268519 rs770567211	12	D>E		No	ClinGen ExAC gnomAD
TCGA novel	15	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs907975121 CA33689307	16	D>N		No	ClinGen Ensembl
rs746619363 CA1268517	17	L>*		No	ClinGen ExAC
rs779373936 CA1268516	18	E>G		No	ClinGen ExAC TOPMed gnomAD
CA343572391 rs1304027851	21	P>S		No	ClinGen gnomAD
CA343572393 rs1304027851	21	P>T		No	ClinGen gnomAD
CA343572382 COSM316081 rs1571662248	22	S>L	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA343572372 rs1220517560	24	N>S		No	ClinGen gnomAD
CA1268515 rs145359130	27	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1282010404 CA343572329	29	E>Q		No	ClinGen TOPMed gnomAD
CA343572302 rs1221340691	31	T>A		No	ClinGen TOPMed
rs1331836786 CA343572297	31	T>I		No	ClinGen gnomAD
CA343572293 rs1352761079	32	I>V		No	ClinGen gnomAD
CA33689270 rs993307715	33	I>T		No	ClinGen TOPMed
rs1433645209 CA343572251	35	S>I		No	ClinGen gnomAD
CA343572249 rs1433645209	35	S>N		No	ClinGen gnomAD
CA343572242 rs1394583180	36	N>D		No	ClinGen gnomAD
rs373975336 CA1268511	36	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA343572238 rs373975336	36	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767659348 CA1268510	38	E>G		No	ClinGen ExAC TOPMed gnomAD
CA33689222 rs764412546	39	E>*		No	ClinGen Ensembl
CA343572157 rs1225937807	42	I>N		No	ClinGen gnomAD
rs1377654886 CA343572139	44	H>Y		No	ClinGen TOPMed gnomAD
CA1268508 rs751702177	45	S>F		No	ClinGen ExAC gnomAD
CA1268506 rs762776217	46	A>S		No	ClinGen ExAC gnomAD
CA1268505 rs151336469	47	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151336469 CA343571964	47	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758990706 CA1268502	49	L>P		No	ClinGen ExAC TOPMed gnomAD
CA343571921 rs1370927645	51	K>E		No	ClinGen gnomAD
CA1268501 rs776252918	52	D>G		No	ClinGen ExAC gnomAD
TCGA novel	52	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343571879 rs1466519766	53	H>Y		No	ClinGen gnomAD
CA343571853 rs1374743618	54	Q>*		No	ClinGen gnomAD
CA1268500 rs770315009	55	E>Q		No	ClinGen ExAC gnomAD
rs904025419 CA33689166	56	V>G		No	ClinGen Ensembl
CA1268499 rs139945443	57	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	59	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343571744 rs1401306997	61	P>A		No	ClinGen TOPMed
rs114937221 CA1268498	64	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114937221 CA33689162	64	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343571706 rs1417493209	64	A>V		No	ClinGen gnomAD
CA1268497 rs769022500	65	D>G		No	ClinGen ExAC gnomAD
rs1438868701 CA343571695	66	T>K		No	ClinGen TOPMed
rs61826282 CA33689154	67	G>D		No	ClinGen TOPMed gnomAD
CA1268495 rs780574843	67	G>S		No	ClinGen ExAC gnomAD
TCGA novel	68	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208189359 CA343571667	70	S>L		No	ClinGen gnomAD
TCGA novel	71	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343571637 rs1355234194	73	P>A		No	ClinGen TOPMed gnomAD
rs1312041719 CA343571632	73	P>R		No	ClinGen TOPMed
rs1237908062 CA343571604	75	E>D		No	ClinGen gnomAD
rs1314662095 CA343571570	78	V>A		No	ClinGen gnomAD
CA343571517 rs1354810709	82	P>S		No	ClinGen gnomAD
rs757268800 CA1268491	84	D>N		No	ClinGen ExAC gnomAD
rs1222751691 CA343571415	88	D>G		No	ClinGen TOPMed
CA1268490 rs751817866	88	D>N		No	ClinGen ExAC gnomAD
rs758295893 CA1268488	89	E>G		No	ClinGen ExAC gnomAD
CA1268489 rs778071605	89	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1451933604 CA343571381	90	N>K		No	ClinGen gnomAD
rs752491114 CA1268487	91	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1268486 rs765100630	92	Q>H		No	ClinGen ExAC gnomAD
CA343571345 rs1453032200	92	Q>R		No	ClinGen TOPMed
rs1255769046 CA343571318	93	S>R		No	ClinGen gnomAD
CA1268485 rs759557017	94	F>C		No	ClinGen ExAC gnomAD
CA343571314 rs1221774183	94	F>L		No	ClinGen TOPMed
CA343571293 rs1261854156	96	D>G		No	ClinGen gnomAD
CA343571301 rs1252153906	96	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752007143 CA1268483	96	D>P		No	ClinGen ExAC
rs138587725 CA1268482	97	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1268479 rs771673669	98	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1268480 rs772856426	98	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA343571251 rs1291151987	100	G>R		No	ClinGen gnomAD
rs770026524 CA1268476	101	H>R		No	ClinGen ExAC gnomAD
CA1268477 rs775886374	101	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1268475 rs377600126	102	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA343571201 rs1393220544	103	L>F		No	ClinGen TOPMed gnomAD
CA343571174 rs1416171021	104	P>L		No	ClinGen gnomAD
CA343571177 rs1416171021	104	P>R		No	ClinGen gnomAD
CA343571186 rs1461065734	104	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	106	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs929769544 CA33689002	109	G>C		No	ClinGen TOPMed gnomAD
rs1202935111 CA343571113	109	G>D		No	ClinGen gnomAD
rs1202935111 CA343571109	109	G>V		No	ClinGen gnomAD
CA343571090 rs1478456281	111	E>*		No	ClinGen gnomAD
CA343571080 rs1571661303	111	E>D		No	ClinGen Ensembl
rs919778741 CA343571071	112	P>H		No	ClinGen gnomAD
CA33688998 rs919778741	112	P>L		No	ClinGen gnomAD
rs1372983351 CA343571074	112	P>S		No	ClinGen gnomAD
CA343571062 rs1038341854	113	L>*		No	ClinGen TOPMed gnomAD
CA33688993 rs1038341854	113	L>W		No	ClinGen TOPMed gnomAD
rs1268760188 CA343571025	115	P>L		No	ClinGen gnomAD
CA1268473 rs112711003	116	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343571006 rs1261633992	117	P>S		No	ClinGen gnomAD
CA343571001 rs1261633992	117	P>T		No	ClinGen gnomAD
rs548916342 CA1268472	121	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1271073841 CA343570921	122	S>I		No	ClinGen gnomAD
CA1268471 rs747016311	123	D>G		No	ClinGen ExAC TOPMed gnomAD
rs199500621 CA33688979	124	K>E		No	ClinGen Ensembl
rs369872700 CA1268470	124	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs375587727 CA1268469	127	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs752934673 CA1268468	128	A>T		No	ClinGen ExAC gnomAD
rs1332190430 CA343570816	130	A>T		No	ClinGen TOPMed
rs373555927 CA1268466	131	H>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	132	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238555703 CA343570769	134	S>G		No	ClinGen TOPMed
CA1268465 rs138617443	134	S>R		No	ClinGen ESP ExAC gnomAD
CA343570729 rs1179494579	137	V>E		No	ClinGen TOPMed
rs1231250352 CA343570724	138	A>S		No	ClinGen TOPMed
rs1410863658 CA343570720	139	L>F		No	ClinGen gnomAD
rs1396494825 CA343570712	140	P>S		No	ClinGen gnomAD
rs760263804 CA1268463	141	K>E		No	ClinGen ExAC TOPMed gnomAD
rs749891313 CA1268462	143	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1268460 rs566526582	144	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA1268457 rs149853908	146	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1268458 rs770205390	146	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1268456 rs777222778	148	G>V		No	ClinGen ExAC gnomAD
rs747496738 CA1268454	153	P>R		No	ClinGen ExAC gnomAD
CA33688929 rs914441089	153	P>S		No	ClinGen TOPMed
CA343570619 rs1346985070	155	T>A		No	ClinGen gnomAD
rs778038876 CA1268453	156	T>A		No	ClinGen ExAC TOPMed gnomAD
CA343570610 rs1414919462	156	T>I		No	ClinGen TOPMed
rs772272447 CA1268452	157	D>H		No	ClinGen ExAC gnomAD
CA343570602 rs1369122832	158	S>T		No	ClinGen gnomAD
CA1268450 rs779222171	159	Q>K		No	ClinGen ExAC gnomAD
rs754807579 CA1268449	159	Q>R		No	ClinGen ExAC
CA1268448 rs748996935	161	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1416686463 CA343570576	162	Q>*		No	ClinGen TOPMed gnomAD
rs1376563121 CA343570556	164	P>L		No	ClinGen gnomAD
CA1268446 rs115350827	168	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375297372 CA1268445	168	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375297372 CA343570532	168	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767083823 CA1268444	169	A>S		No	ClinGen ExAC gnomAD
TCGA novel	171	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164064935 CA343570514	171	Q>R		No	ClinGen gnomAD
rs367898216 CA1268442	173	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343570463 rs953726788	179	R>G		No	ClinGen TOPMed gnomAD
rs763610484 CA1268441	179	R>K		No	ClinGen ExAC gnomAD
CA33688895 rs953726788	179	R>W		No	ClinGen TOPMed gnomAD
CA343570458 COSM900321 rs1188835981	180	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA1268440 rs759963550	180	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1268437 rs761331608	182	L>P		No	ClinGen ExAC gnomAD
rs748173529 CA1268434	184	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748173529 CA1268435	184	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs773839681 CA1268436	184	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1009276802 CA343570436	185	E>K		No	ClinGen Ensembl
rs1009276802 CA33688853	185	E>Q		No	ClinGen Ensembl
CA343570343 rs1164291784	187	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA343570315 rs1553234883	189	H>Y		No	ClinGen Ensembl
CA1268412 rs769593556	191	Q>R		No	ClinGen ExAC gnomAD
rs745619830 CA1268411	192	Q>H		No	ClinGen ExAC gnomAD
rs1421546963 CA527197757	192	Q>H		No	ClinGen gnomAD
CA343570221 rs1187246510	194	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	194	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343570183 rs1475124033	195	K>I		No	ClinGen gnomAD
TCGA novel	195	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385327701 CA343570166	196	L>F		No	ClinGen gnomAD
rs1215803690 CA343570115	200	K>E		No	ClinGen TOPMed gnomAD
CA1268410 rs370462599	205	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA343570020 rs370462599	205	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326644989 CA343569995	206	T>A		No	ClinGen TOPMed
CA1268409 rs770899401	206	T>I		No	ClinGen ExAC gnomAD
rs1309841956 CA343569947	207	M>I		No	ClinGen gnomAD
rs560798679 CA1268408	207	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1448459421 CA343569886	209	Q>R		No	ClinGen TOPMed
rs757912562 CA1268406	210	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1268405 rs752303472	214	G>S		No	ClinGen ExAC gnomAD
rs528670266 CA1268404	214	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1394731243 CA343569728	215	F>V		No	ClinGen gnomAD
CA343569653 rs1325034941	217	S>R		No	ClinGen gnomAD
CA343569627 rs1396570387	218	Y>C		No	ClinGen gnomAD
rs1298485087 CA343569053	220	P>S		No	ClinGen TOPMed gnomAD
CA343569004 rs747655128	225	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1268388 rs747655128	225	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA343569006 rs747655128	225	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768473709 CA1268385	227	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781734441 CA1268384	230	V>G		No	ClinGen ExAC gnomAD
CA343568957 rs1359430634	230	V>L		No	ClinGen TOPMed
CA343568935 rs1421050530	232	A>G		No	ClinGen gnomAD
CA1268383 rs146267795	233	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1268382 rs752023380	234	S>C		No	ClinGen ExAC TOPMed gnomAD
rs762962227 CA1268380	235	V>E		No	ClinGen ExAC gnomAD
rs199675664 CA1268381	235	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270014293 CA343568891	236	N>S		No	ClinGen TOPMed
CA33686742 rs556184602	238	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA343568873 rs1212486764	238	Y>N		No	ClinGen gnomAD
CA1268379 rs752868213	240	S>T		No	ClinGen ExAC gnomAD
rs765266318 CA1268378	240	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	241	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759817666 CA1268377	242	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1390591098 CA343568812	243	A>V		No	ClinGen gnomAD
CA343568800 COSM1241841 rs1571652284	244	Q>H	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
rs770725618 CA1268375	244	Q>R		No	ClinGen ExAC gnomAD
rs1241523427 CA343568793	245	Q>*		No	ClinGen TOPMed
rs1415255197 CA343568763	248	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA343568748 rs1193192051	248	K>R		No	ClinGen TOPMed
CA343568701 rs1269829794	251	A>T		No	ClinGen TOPMed
rs760449847 CA1268374	251	A>V		No	ClinGen ExAC TOPMed gnomAD
CA343568662 rs1558008472	254	A>D		No	ClinGen Ensembl
rs1455572894 CA343568665	254	A>S		No	ClinGen gnomAD
CA1268370 rs372975072	257	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1268369 rs771998135	258	Q>R		No	ClinGen ExAC gnomAD
rs748013591 CA1268368	266	F>L		No	ClinGen ExAC gnomAD
rs774045465 CA1268367	269	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	270	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768280447 CA1268366	272	F>L		No	ClinGen ExAC gnomAD
CA33686666 rs1005548354	273	L>M		No	ClinGen Ensembl
CA1268365 rs150114869	276	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs757570661 CA1268363	278	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1336730 rs200952880 CA1268364	278	R>W	Variant assessed as Somatic; 0.0003234 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA343568413 rs1571652013	280	F>V		No	ClinGen Ensembl
CA343568398 rs1233850571	281	L>F		No	ClinGen gnomAD
CA1268362 rs747346773	282	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343568336 rs1571651994	284	H>P		No	ClinGen Ensembl
rs777974264 CA1268361	286	N>S		No	ClinGen ExAC gnomAD
CA343568295 rs1383987893	287	A>S		No	ClinGen gnomAD
CA343568277 rs1441328014	288	S>C		No	ClinGen gnomAD
CA343568264 rs1571651954	289	N>T		No	ClinGen Ensembl
CA1268360 rs758980121	291	T>A		No	ClinGen ExAC gnomAD
rs1373001273 CA343568238	291	T>I		No	ClinGen TOPMed gnomAD
rs942995778 CA33686622	296	I>V		No	ClinGen TOPMed gnomAD
rs115060694 CA1268358	297	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200432465 CA33686613	300	A>V		No	ClinGen gnomAD
rs754061455 CA343568124	302	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754061455 CA1268356	302	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1639635 CA1268357 rs754992879	302	R>W	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1268353 rs773110414	306	E>D		No	ClinGen ExAC TOPMed
rs202169827 CA1268354	306	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1558008288 CA343568068	307	T>I		No	ClinGen Ensembl
CA1268352 rs767185491	308	L>V		No	ClinGen ExAC gnomAD
CA1268350 rs774421838	312	S>N		No	ClinGen ExAC gnomAD
CA33686570 rs1014169325	314	H>L		No	ClinGen TOPMed gnomAD
CA33686571 rs1014169325	314	H>R		No	ClinGen TOPMed gnomAD
CA33686565 rs891743799	315	V>A		No	ClinGen Ensembl
CA343567986 rs200362981	315	V>F		No	ClinGen 1000Genomes gnomAD
CA33686569 rs200362981	315	V>I		No	ClinGen 1000Genomes gnomAD
rs1282353964 CA343567970	316	A>V		No	ClinGen gnomAD
CA1268349 rs748743703	318	A>D		No	ClinGen ExAC gnomAD
rs748743703 CA1268348	318	A>G		No	ClinGen ExAC gnomAD
TCGA novel	318	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1268345 rs745476578	321	S>F		No	ClinGen ExAC TOPMed gnomAD
CA343567906 rs1373432810	322	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	325	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551590889 CA1268344	325	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1461243970 CA343567874	325	V>L		No	ClinGen gnomAD
rs202105260 CA1268343	326	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	334	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343567763 rs1447333377	335	R>K		No	ClinGen gnomAD
CA343567752 rs1441169584	336	T>I		No	ClinGen TOPMed
rs779325660 CA1268341	337	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1467876261 CA343567735	338	Q>*		No	ClinGen gnomAD
rs753864258 CA1268340	338	Q>H		No	ClinGen ExAC gnomAD
CA343567732 rs1287403738	338	Q>R		No	ClinGen TOPMed gnomAD
rs1339950239 CA343567713	340	S>G		No	ClinGen gnomAD
rs200862426 CA1268338	342	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA33686502 rs777385812	342	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs139296224 CA33686496	343	V>F		No	ClinGen ESP
rs139296224 CA33686494	343	V>I		No	ClinGen ESP
rs1331241500 CA343567591	350	E>D		No	ClinGen gnomAD
CA1268331 rs771553209	353	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1268330 rs775176340	354	G>A		No	ClinGen ExAC gnomAD
CA343567493 rs1173896917	358	G>D		No	ClinGen gnomAD
CA1268326 rs772488024	361	A>S		No	ClinGen ExAC gnomAD
CA1268323 rs769202039	365	H>R		No	ClinGen ExAC gnomAD
CA343567421 rs1183676207	365	H>Y		No	ClinGen TOPMed
CA1268322 rs749765069	366	H>R		No	ClinGen ExAC gnomAD
CA33686422 rs961589534	366	H>Y		No	ClinGen TOPMed gnomAD
CA343567381 rs374999774	368	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374999774 CA1268320	368	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs984052861 CA33686411	369	S>F		No	ClinGen Ensembl
rs1409214599 CA343567359	370	F>L		No	ClinGen TOPMed
rs751354491 CA1268316	373	G>S		No	ClinGen ExAC TOPMed gnomAD
rs763947376 CA1268315	373	G>V		No	ClinGen ExAC gnomAD
TCGA novel	376	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343567316 rs1412377382	376	L>S		No	ClinGen TOPMed gnomAD
rs1312914169 CA343567298	378	F>L		No	ClinGen gnomAD
CA1268311 rs758902433	379	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs764813441 CA1268312	379	Y>H		No	ClinGen ExAC gnomAD
rs901703052 CA33686383	384	H>R		No	ClinGen TOPMed
rs760297975 CA1268309	386	N>S		No	ClinGen ExAC gnomAD
rs760297975 CA1268308	386	N>T		No	ClinGen ExAC gnomAD
rs769004050 CA1268306	388	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1268305 rs749853642	390	K>R		No	ClinGen ExAC gnomAD
rs749853642 CA343567216	390	K>T		No	ClinGen ExAC gnomAD
rs769925109 CA1268303	398	V>I		No	ClinGen ExAC gnomAD
CA343567157 rs1558007837	400	L>P		No	ClinGen Ensembl
CA343567155 rs910195006	401	E>K		No	ClinGen TOPMed
CA33686331 rs910195006	401	E>Q		No	ClinGen TOPMed
CA343567148 rs1558007806	402	E>K		No	ClinGen Ensembl
CA1268298 rs564952440	403	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1268299 rs751823108	403	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1268295 rs765043995	405	L>*		No	ClinGen ExAC gnomAD
CA343567109 rs1158379736	407	A>V		No	ClinGen gnomAD
CA343567091 rs1387673816	410	G>D		No	ClinGen gnomAD
CA1268293 rs753337635	412	R>G		No	ClinGen ExAC gnomAD
CA343567079 rs1476172328	412	R>K		No	ClinGen gnomAD
rs1024129117 CA33686311	413	E>A		No	ClinGen TOPMed
CA1268292 COSM900316 rs151254233	414	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA1268289 rs529759317	419	R>G		No	ClinGen ExAC TOPMed gnomAD
CA33686284 rs369829929	422	L>F		No	ClinGen Ensembl
rs776099487 CA1268287	424	A>V		No	ClinGen ExAC gnomAD
TCGA novel	426	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1268284 rs545273591	428	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1268282 COSM136195 rs538957607	429	S>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA343566962 rs538957607	429	S>Y		No	ClinGen ExAC gnomAD
rs1558007642 CA343566960	430	D>N		No	ClinGen Ensembl
rs1271389223 CA343566948	431	T>I		No	ClinGen gnomAD
rs878892483 CA33686255	433	T>I		No	ClinGen Ensembl
CA1268279 rs778071698	436	N>S		No	ClinGen ExAC gnomAD
rs201353530 CA1268278	438	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747847369 CA33686237	439	D>E		No	ClinGen ExAC TOPMed gnomAD
rs904203923 CA33686243	439	D>G		No	ClinGen Ensembl
rs778747482 CA1268276	442	K>*		No	ClinGen ExAC TOPMed gnomAD
CA1268275 rs754910796	444	S>N		No	ClinGen ExAC gnomAD
rs754910796 CA343566861	444	S>T		No	ClinGen ExAC gnomAD
rs1421783873 CA343566825	449	R>L		No	ClinGen TOPMed gnomAD
rs1421783873 CA343566827	449	R>Q		No	ClinGen TOPMed gnomAD
rs765931861 CA1268273	452	H>P		No	ClinGen ExAC gnomAD
CA33686225 rs200043675	452	H>Y		No	ClinGen 1000Genomes TOPMed gnomAD
CA1268271 rs750084058	457	V>A		No	ClinGen ExAC gnomAD
rs1246439594 CA343566782	457	V>L		No	ClinGen gnomAD
rs1309747150 CA343566767	458	Q>H		No	ClinGen gnomAD
CA1268270 rs200595534	461	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA33686200 rs922379694	463	I>M		No	ClinGen Ensembl
rs376004069 CA1268269	463	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs368274587 CA1268268	465	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs760015380 CA1268266	465	E>G		No	ClinGen ExAC TOPMed gnomAD
rs368274587 CA343566696	465	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368274587 CA1268267	465	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442581603 CA343566675	466	Q>H		No	ClinGen gnomAD
CA343566646 rs1347606809	469	L>F		No	ClinGen TOPMed
CA343566649 rs1347606809	469	L>I		No	ClinGen TOPMed

No associated diseases with Q8NFQ8

2 regional properties for Q8NFQ8

Type	Name	Position	InterPro Accession
domain	Torsin-1A-interacting protein 1/2, AAA+ activator domain	237 - 469	IPR046753
domain	Torsin-1A-interacting protein 1/2, N-terminal	1 - 233	IPR046754

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane; Single-pass membrane protein Nucleus membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.

2 GO annotations of molecular function

Name	Definition
ATPase activator activity	Binds to and increases the activity of an ATP hydrolysis activity.
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.

4 GO annotations of biological process

Name	Definition
endoplasmic reticulum organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum.
membrane organization	A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
positive regulation of ATP-dependent activity	Any process that activates or increases the rate of an ATP-dependent activity.
protein localization to nuclear envelope	A process in which a protein is transported to, or maintained at, a location within a nuclear envelope.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5JTV8	TOR1AIP1	Torsin-1A-interacting protein 1	Homo sapiens (Human)	PR
Q921T2	Tor1aip1	Torsin-1A-interacting protein 1	Mus musculus (Mouse)	PR
Q8BYU6	Tor1aip2	Torsin-1A-interacting protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MADSGLREPQ	EDSQKDLEND	PSVNSQAQET	TIIASNAEEA	EILHSACGLS	KDHQEVETEG
70	80	90	100	110	120
PESADTGDKS	ESPDEANVGK	HPKDKTEDEN	KQSFLDGGKG	HHLPSENLGK	EPLDPDPSHS
130	140	150	160	170	180
PSDKVGRADA	HLGSSSVALP	KEASDGTGAS	QEPPTTDSQE	AQSPGHSSAG	QEGEDTLRRR
190	200	210	220	230	240
LLAPEAGSHP	QQTQKLEEIK	ENAQDTMRQI	NKKGFWSYGP	VILVVLVVAV	VASSVNSYYS
250	260	270	280	290	300
SPAQQVPKNP	ALEAFLAQFS	QLEDKFPGQS	SFLWQRGRKF	LQKHLNASNP	TEPATIIFTA
310	320	330	340	350	360
AREGRETLKC	LSHHVADAYT	SSQKVSPIQI	DGAGRTWQDS	DTVKLLVDLE	LSYGFENGQK
370	380	390	400	410	420
AAVVHHFESF	PAGSTLIFYK	YCDHENAAFK	DVALVLTVLL	EEETLEASVG	PRETEEKVRD
430	440	450	460
LLWAKFTNSD	TPTSFNHMDS	DKLSGLWSRI	SHLVLPVQPV	SSIEEQGCLF