AiPD: Autoinhibited Protein Database

O75449

Gene name	KATNA1
Protein name	Katanin p60 ATPase-containing subunit A1
Names	Katanin p60 subunit A1, p60 katanin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11104
EC number	5.6.1.1: Enzymes altering polypeptide conformation or assembly
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

139-208 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

139-208 (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 O75449

Entry ID	Method	Resolution	Chain	Position	Source
5ZQL	X-ray	301 A	A/B	183-491	PDB
5ZQM	X-ray	290 A	A	183-489	PDB
AF-O75449-F1	Predicted				AlphaFoldDB

332 variants for O75449

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM594664 rs1326322121 CA366010378	2	S>G	lung Variant assessed as Somatic; 4.65e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746380317 CA4043257	2	S>R		No	ClinGen ExAC TOPMed gnomAD
CA366010372 rs1206873372	3	L>V		No	ClinGen TOPMed
CA149899281 rs1037022230	5	M>L		No	ClinGen TOPMed
CA4043255 rs368939794	5	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA366010330 rs1280998762	9	N>H		No	ClinGen gnomAD
rs771314781 CA4043254	9	N>K		No	ClinGen ExAC gnomAD
CA4043253 rs747458691	10	V>A		No	ClinGen ExAC gnomAD
CA149899280 rs888347343	14	R>C		No	ClinGen TOPMed gnomAD
rs374517735 CA4043252	14	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA366010296 rs374517735	14	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1476785981 CA366010290	15	E>G		No	ClinGen TOPMed
rs1423711156 CA366010282	16	Y>C		No	ClinGen TOPMed
CA4043251 rs761698694	16	Y>LRPILVCRL*		No	ClinGen ExAC
rs748303578 CA4043249	22	Y>C		No	ClinGen ExAC gnomAD
CA4043248 rs778977868	24	S>C		No	ClinGen ExAC TOPMed gnomAD
rs778977868 CA149899279	24	S>F		No	ClinGen ExAC TOPMed gnomAD
rs755002877 CA4043247	25	A>V		No	ClinGen ExAC gnomAD
TCGA novel	26	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143698350 CA4043245	26	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366010209 rs1582809039	27	V>G		No	ClinGen Ensembl
rs750297626 CA4043243	28	Y>C		No	ClinGen ExAC gnomAD
rs767351798 CA4043242	29	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1215702317 CA366010181	31	G>V		No	ClinGen gnomAD
CA366010178 rs1278194101	32	V>F		No	ClinGen TOPMed
CA366010145 rs1287851861	36	M>I		No	ClinGen TOPMed
CA366010148 rs1285725039	36	M>T		No	ClinGen TOPMed gnomAD
rs1223810550 CA366010139	37	N>S		No	ClinGen gnomAD
TCGA novel	37	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774094453 CA4043240	38	K>E		No	ClinGen ExAC gnomAD
CA149899278 rs774094453	38	K>Q		No	ClinGen ExAC gnomAD
rs763724237 CA4043239	40	L>P		No	ClinGen ExAC gnomAD
rs774844501 CA4043237	42	S>L		No	ClinGen ExAC gnomAD
CA366010108 rs1321294722	42	S>P		No	ClinGen TOPMed
rs1222644939 CA366010104	43	V>I		No	ClinGen TOPMed
CA4043236 rs771529719	44	K>E		No	ClinGen ExAC gnomAD
CA366010091 rs1293628022	45	D>N		No	ClinGen TOPMed
rs1562301917 CA366010081	46	T>S		No	ClinGen Ensembl
rs1420341556 CA366010020	54	Q>E		No	ClinGen gnomAD
CA366012596 rs1442146865	60	N>S		No	ClinGen TOPMed gnomAD
CA4043215 rs146991684	60	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA366012585 rs1194996823	61	V>M		No	ClinGen gnomAD
CA4043213 rs772456492	62	E>K		No	ClinGen ExAC gnomAD
CA366012526 rs1324406204	65	H>P		No	ClinGen gnomAD
rs1224001128 CA366012527	65	H>Y		No	ClinGen gnomAD
CA4043211 rs201370995	66	V>F		No	ClinGen ExAC TOPMed gnomAD
CA149951233 rs946183329	68	D>V		No	ClinGen TOPMed gnomAD
rs749402420 CA149951223	69	I>S		No	ClinGen ExAC gnomAD
rs749402420 CA4043209	69	I>T		No	ClinGen ExAC gnomAD
rs1345026758 CA366012478	70	M>L		No	ClinGen gnomAD
CA149951205 rs141332099	72	T>I		No	ClinGen ESP
CA366012437 rs1388520962	73	L>P		No	ClinGen gnomAD
CA149951194 rs183436239	75	S>N		No	ClinGen 1000Genomes
rs745828092 CA4043206	79	D>G		No	ClinGen ExAC TOPMed gnomAD
CA366012360 rs1297804127	79	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA366012362 rs1297804127	79	D>N		No	ClinGen TOPMed gnomAD
CA4043203 rs150419039	85	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	86	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs949931101 CA149951171	88	H>N		No	ClinGen TOPMed
rs1186722695 CA366012219	90	L>F		No	ClinGen TOPMed
rs150555137 CA366012208	91	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150555137 CA4043201	91	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366012200 rs1193684132	92	A>T		No	ClinGen gnomAD
rs975080160 CA149951160	93	S>Y		No	ClinGen TOPMed gnomAD
CA149951157 rs918303162	94	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4043199 rs140455659	95	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs758929490 CA4043198	96	E>K		No	ClinGen ExAC TOPMed gnomAD
CA366012138 rs1191524990	97	V>D		No	ClinGen gnomAD
CA4043197 rs753323056	97	V>I		No	ClinGen ExAC gnomAD
rs768069404 CA4043196	98	W>*		No	ClinGen ExAC gnomAD
CA4043195 rs762301775	99	S>F		No	ClinGen ExAC gnomAD
rs768841688 CA4043193	100	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4043194 rs774700637	100	M>L		No	ClinGen ExAC TOPMed gnomAD
CA149951123 rs774700637	100	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1469576234 CA366012096	101	P>S		No	ClinGen gnomAD
rs375960214 CA4043191	102	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375960214 CA4043192	102	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4043190 rs770023141	104	V>I		No	ClinGen ExAC TOPMed gnomAD
CA149951103 rs533659192	106	R>*		No	ClinGen 1000Genomes gnomAD
rs745997781 CA4043189	106	R>P		No	ClinGen ExAC TOPMed gnomAD
CA366012022 rs745997781	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA366012017 rs1179291154	107	R>G		No	ClinGen gnomAD
CA366010868 rs775897411	108	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4043172 rs775897411	108	P>T		No	ClinGen ExAC TOPMed gnomAD
rs202184229 CA4043170	115	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759837219 CA4043169	115	R>H		No	ClinGen ExAC gnomAD
rs1245514300 CA366010817	116	Q>R		No	ClinGen gnomAD
CA4043167 rs771078818	119	Q>R		No	ClinGen ExAC gnomAD
rs746967618 CA4043166	121	S>G		No	ClinGen ExAC gnomAD
CA149946038 rs899866821	122	D>E		No	ClinGen TOPMed
rs142263647 CA4043165	122	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4043164 rs772014499	123	P>L		No	ClinGen ExAC gnomAD
rs1345793129 CA366010755	125	S>L		No	ClinGen TOPMed
rs201942843 CA366010743	127	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201942843 CA4043163	127	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778764236 CA4043162	128	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769899413 CA4043161	129	R>H		No	ClinGen ExAC TOPMed gnomAD
rs748881542 CA4043160	130	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1023782706 CA149946008	130	P>S		No	ClinGen gnomAD
rs1434375435 CA366010722	131	S>N		No	ClinGen gnomAD
CA4043157 rs749913542	134	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	134	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4043156 rs141453341	135	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366010682 rs1263981056	137	H>Q		No	ClinGen TOPMed gnomAD
CA4043155 rs758935014	138	R>C		No	ClinGen ExAC gnomAD
CA149945936 rs751349445	140	S>P		No	ClinGen Ensembl
CA366010667 rs1210829271	140	S>Y		No	ClinGen gnomAD
rs998923102 CA149945933	143	N>S		No	ClinGen Ensembl
rs1220994999 CA366010616	147	D>E		No	ClinGen TOPMed gnomAD
rs760877623 CA4043149	147	D>G		No	ClinGen ExAC
CA4043150 rs766600468	147	D>Y		No	ClinGen ExAC
TCGA novel	148	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773321162 CA4043148	149	G>R		No	ClinGen ExAC gnomAD
rs771968861 CA4043147	149	G>V		No	ClinGen ExAC gnomAD
CA4043146 rs557222260	150	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	151	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351280844 CA366010595	151	A>T		No	ClinGen gnomAD
rs774028107 CA4043145	151	A>V		No	ClinGen ExAC gnomAD
rs373230292 CA4043144	153	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369384760 CA4043142	153	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4043143 rs369384760	153	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366010586 rs373230292	153	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745424629 CA4043140	155	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1198824418 CA366010572	155	R>H		No	ClinGen TOPMed gnomAD
CA4043139 rs780752509	156	E>V		No	ClinGen ExAC gnomAD
CA366010551 rs1278949459	158	K>R		No	ClinGen Ensembl
CA366010541 rs1248718852	159	E>D		No	ClinGen gnomAD
CA366010535 rs1209623111	160	Q>R		No	ClinGen TOPMed gnomAD
CA149945826 rs979473018	163	G>*		No	ClinGen TOPMed
TCGA novel	167	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs962738380 CA149933069	168	N>K		No	ClinGen Ensembl
rs1285718620 CA366009984	170	S>*		No	ClinGen TOPMed
CA4043123 rs372543973	172	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366009923 rs1309583799	180	N>D		No	ClinGen gnomAD
rs1348137299 CA366009913	181	K>T		No	ClinGen gnomAD
rs1310930730 CA366009899	183	D>H		No	ClinGen gnomAD
rs780584106 CA4043121	184	S>G		No	ClinGen ExAC TOPMed gnomAD
CA149932990 rs959797169	186	G>E		No	ClinGen TOPMed
rs748635170 CA4043119 COSM1441115	186	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1359608037 CA366009858	189	K>E		No	ClinGen gnomAD
rs779605721 CA4043118	190	D>Y		No	ClinGen ExAC gnomAD
rs1160649817 CA366009834	192	V>A		No	ClinGen gnomAD
rs755520199 CA4043116	192	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755520199 CA366009837	192	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754312408 CA4043115	193	E>G		No	ClinGen ExAC TOPMed
rs1035885455 CA149932974	194	A>D		No	ClinGen TOPMed
rs1333740043 CA366009825	194	A>S		No	ClinGen TOPMed
CA4043114 rs780499671	196	E>K		No	ClinGen ExAC gnomAD
CA149932940 rs970653137	198	D>E		No	ClinGen TOPMed gnomAD
rs756304379 CA4043113	198	D>G		No	ClinGen ExAC gnomAD
CA366009791 rs1484527024	199	I>L		No	ClinGen gnomAD
TCGA novel	199	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366009792 rs1484527024	199	I>V		No	ClinGen gnomAD
rs1562282262 CA366009786	200	I>F		No	ClinGen Ensembl
rs767524484 CA4043111	202	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1582758195 CA366009751	205	N>H		No	ClinGen Ensembl
rs761990782 CA4043110	205	N>S		No	ClinGen ExAC TOPMed gnomAD
CA366009742 rs1287765758	206	V>A		No	ClinGen gnomAD
CA4043108 COSM1074440 rs200980886	207	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1358217928 CA366009736	207	R>Q		No	ClinGen gnomAD
CA4043094 rs780585866	209	D>N		No	ClinGen ExAC gnomAD
CA149932142 rs112384969	210	D>G		No	ClinGen gnomAD
rs750719824 CA4043092	210	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4043093 rs750719824	210	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs781524224 CA4043091	211	I>F		No	ClinGen ExAC gnomAD
rs751701073 CA4043089	212	A>P		No	ClinGen ExAC gnomAD
rs764097825 CA4043088	214	L>*		No	ClinGen ExAC gnomAD
rs758348801 CA4043087	217	A>P		No	ClinGen ExAC gnomAD
rs764974796 CA4043085	218	K>N		No	ClinGen ExAC gnomAD
rs752584493 CA4043086	218	K>T		No	ClinGen ExAC gnomAD
rs1330377587 CA366009393	222	K>R		No	ClinGen TOPMed
COSM1169062 CA366009375 rs1193787084	225	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4043082 rs372332577	229	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1034747338 CA149932066	229	M>T		No	ClinGen TOPMed
CA4043081 rs372332577	229	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA149932064 rs1015844305	231	M>V		No	ClinGen TOPMed gnomAD
rs1192566750 CA366009323	232	P>L		No	ClinGen gnomAD
TCGA novel	233	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319952238 CA366009278	238	I>S		No	ClinGen gnomAD
CA366009282 rs1562281511	238	I>V		No	ClinGen Ensembl
rs267600852 CA149932033 COSM36637	241	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA149932053 rs267600853	241	P>S		No	ClinGen Ensembl
CA366009255 rs1219377766	242	W>*		No	ClinGen gnomAD
rs772959973 CA4043061	248	V>I		No	ClinGen ExAC gnomAD
CA4043059 rs761454896	249	G>S		No	ClinGen ExAC gnomAD
rs770397288 CA4043058	253	T>K		No	ClinGen ExAC TOPMed gnomAD
rs770397288 CA366009172	253	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4043057 rs770397288	253	T>R		No	ClinGen ExAC TOPMed gnomAD
rs767744945 CA149930814	256	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1251538246 CA366009147	257	L>H		No	ClinGen TOPMed
rs778013011 CA4043052	258	L>R		No	ClinGen ExAC TOPMed gnomAD
CA4043051 rs758597565	259	A>T		No	ClinGen ExAC
rs1163542888 CA366009128	261	A>T		No	ClinGen gnomAD
rs879907212 CA149930789	263	A>S		No	ClinGen gnomAD
rs368136770 CA4043049	264	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA366009097 rs1440631568	266	C>R		No	ClinGen gnomAD
rs1258126357 CA366009095	266	C>Y		No	ClinGen gnomAD
rs1202300890 CA366009088	267	K>Q		No	ClinGen gnomAD
TCGA novel	269	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	270	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778857317 CA4043048	272	N>S		No	ClinGen ExAC gnomAD
CA4043047 rs754949373	273	V>F		No	ClinGen ExAC gnomAD
rs1356052799 CA366009036	275	S>T		No	ClinGen TOPMed gnomAD
CA4043045 rs753668307	277	T>P		No	ClinGen ExAC gnomAD
rs966065974 CA149930740	278	L>S		No	ClinGen Ensembl
CA366009010 rs1418156313	279	T>N		No	ClinGen gnomAD
TCGA novel	286	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366008940 rs1250190442	289	L>F		No	ClinGen gnomAD
rs756012508 CA4043042	291	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756012508 CA366008930	291	R>G		No	ClinGen ExAC TOPMed gnomAD
rs534743192 CA4043041	291	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366008925 rs1359341099	292	L>F		No	ClinGen gnomAD
TCGA novel	293	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1304688768 CA366008871 COSM1211347	298	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs748254559 CA4043028 COSM3765239	298	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs144497418 CA4043026	300	Y>F		No	ClinGen ExAC gnomAD
rs1403466175 CA366008849	301	S>F		No	ClinGen gnomAD
rs1163565805 CA366008842	302	P>L		No	ClinGen gnomAD
CA4043022 rs750305644	305	I>T		No	ClinGen ExAC gnomAD
CA4043023 rs756103424	305	I>V		No	ClinGen ExAC gnomAD
TCGA novel	311	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198418166 CA366008745	316	R>C		No	ClinGen TOPMed gnomAD
rs756980278 COSM1441112 CA4043018	316	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4043017 rs751127064	317	R>*		No	ClinGen ExAC TOPMed gnomAD
rs149685408 CA4043016	317	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
rs762414634 CA4043015	318	G>V		No	ClinGen ExAC gnomAD
CA366008702 rs1256694136	323	H>R		No	ClinGen gnomAD
TCGA novel	326	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366008667 rs1231069073	328	R>K		No	ClinGen TOPMed
rs766930372 CA4043013	331	A>S		No	ClinGen ExAC gnomAD
rs761166751 CA4043012	331	A>V		No	ClinGen ExAC gnomAD
rs772366653 CA4043010	335	V>L		No	ClinGen ExAC gnomAD
rs749132055 CA4042990	341	G>A		No	ClinGen ExAC gnomAD
rs1207474735 CA366008564	342	G>D		No	ClinGen gnomAD
CA366008567 rs1432441267	342	G>S		No	ClinGen TOPMed
CA4042989 rs73781249	343	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366008533 rs1379298867	347	D>N		No	ClinGen TOPMed
rs764285930 CA4042988	348	D>A		No	ClinGen ExAC TOPMed gnomAD
rs116762085 CA4042987	349	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366008509 rs1240550719	350	S>F		No	ClinGen gnomAD
CA366008481 rs1254028714	354	M>T		No	ClinGen gnomAD
rs1282332770 CA366008484	354	M>V		No	ClinGen gnomAD
rs370661501 CA149927657	358	A>T		No	ClinGen Ensembl
CA366008427 rs1445999456	362	P>L		No	ClinGen gnomAD
rs1193519113 CA366008430	362	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA149927650 rs911199528	364	D>H		No	ClinGen Ensembl
rs771044135 CA4042985	365	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1431074270 CA366008401	366	D>G		No	ClinGen TOPMed
rs776751803 CA4042983	370	R>G		No	ClinGen ExAC gnomAD
COSM1672827 rs1358813969 CA366008368	371	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA366008367 rs1177906894	371	R>Q		No	ClinGen Ensembl
TCGA novel	372	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770883758 CA4042981	376	R>*		No	ClinGen ExAC TOPMed gnomAD
CA366008333 rs1180618309	376	R>Q		No	ClinGen gnomAD
rs377721507 CA4042979	378	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA366008314 rs1205837271	379	I>T		No	ClinGen TOPMed gnomAD
rs1257612492 CA366008317	379	I>V		No	ClinGen gnomAD
CA366008296 rs1582747705	382	P>S		No	ClinGen Ensembl
COSM1074436 CA4042960 rs770844527	390	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs372912527 CA4042958	392	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4042957 rs143398283	392	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs570083415 CA149927307	393	I>V		No	ClinGen gnomAD
rs778583263 CA4042955	396	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768282143 CA4042954	396	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4042951 rs757715709	402	D>A		No	ClinGen ExAC gnomAD
CA366008150 rs1174632801	402	D>E		No	ClinGen TOPMed
rs1463660721 CA366008148	403	D>H		No	ClinGen gnomAD
rs778027761 CA4042948	405	D>A		No	ClinGen ExAC gnomAD
CA4042947 rs758877724	406	L>P		No	ClinGen ExAC TOPMed gnomAD
CA149927242 rs899212534	407	A>P		No	ClinGen TOPMed
CA366008115 rs1192759489	408	S>N		No	ClinGen gnomAD
CA4042946 rs375557289	409	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA366008062 rs1348879722	415	G>D		No	ClinGen TOPMed
rs759837333 CA4042944	416	Y>F		No	ClinGen ExAC gnomAD
rs753867329 CA4042943	418	G>S		No	ClinGen ExAC TOPMed gnomAD
rs766424563 CA4042942	419	A>V		No	ClinGen ExAC gnomAD
rs773163446 CA4042940	421	I>V		No	ClinGen ExAC gnomAD
CA149927209 rs568916323	422	T>I		No	ClinGen 1000Genomes
CA366008013 rs1237009181	423	N>T		No	ClinGen TOPMed gnomAD
CA366008009 rs1217245379	424	V>M		No	ClinGen TOPMed
TCGA novel	426	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766402765 CA4042922	427	D>G		No	ClinGen ExAC gnomAD
CA4042921 rs147429157	428	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA149925831 rs147429157	428	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200653967 CA4042919	430	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1254177437 CA366007941	431	M>I		No	ClinGen gnomAD
CA366007943 rs1423377228	431	M>T		No	ClinGen gnomAD
CA4042917 rs774145171	433	M>V		No	ClinGen ExAC gnomAD
CA366007913 rs1208305748	435	R>K		No	ClinGen TOPMed
COSM740652 CA4042916 rs768388071	436	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs762541385 CA4042915	436	R>H		No	ClinGen ExAC gnomAD
CA4042914 rs775246631	437	I>T		No	ClinGen ExAC gnomAD
rs1353287293 CA366007905	437	I>V		No	ClinGen TOPMed gnomAD
rs1485550530 CA366007894	438	E>D		No	ClinGen TOPMed
CA366007888 rs1339152336	439	G>D		No	ClinGen gnomAD
rs776004154 CA4042911	443	E>K		No	ClinGen ExAC gnomAD
COSM1074434 rs375376381 CA4042910	446	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4042909 rs748608795	446	R>Q		No	ClinGen ExAC gnomAD
CA366007780 rs1419881008	451	E>A		No	ClinGen gnomAD
CA4042907 rs755355634	451	E>Q		No	ClinGen ExAC gnomAD
rs1158971720 CA366007770	452	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA366007763 rs1167252715	452	E>D		No	ClinGen gnomAD
TCGA novel	453	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262830876 CA366007730	455	M>V		No	ClinGen gnomAD
rs1191766458 CA366007699	457	T>A		No	ClinGen gnomAD
TCGA novel	457	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366007657 rs1448901969	459	M>T		No	ClinGen gnomAD
rs1213236452 CA366007664	459	M>V		No	ClinGen TOPMed gnomAD
rs142811934 CA366007581	463	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs142811934 CA4042904	463	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA149925744 rs148234938	464	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs148234938 CA4042903	464	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA366007547 rs1231855341	464	M>V		No	ClinGen gnomAD
CA4042902 rs143717160	465	A>V		No	ClinGen ESP ExAC gnomAD
rs757204050 CA4042901	467	K>E		No	ClinGen ExAC gnomAD
CA149925728 rs931127584	473	V>M		No	ClinGen Ensembl
rs1275971142 CA366007342	474	S>C		No	ClinGen TOPMed gnomAD
rs763985367 CA4042899	479	E>*		No	ClinGen ExAC TOPMed gnomAD
CA4042898 rs762853491	479	E>V		No	ClinGen ExAC TOPMed gnomAD
CA366007235 rs775137029 COSM3662194	480	R>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4042896 rs371724006	481	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776299358 CA4042894	482	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1326497547 CA366007185	483	K>N		No	ClinGen gnomAD
TCGA novel	484	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366007172 rs1231348731	484	W>S		No	ClinGen TOPMed
CA4042893 rs199531016	485	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366007145 rs1423028217	486	F>L		No	ClinGen gnomAD
rs148963342 CA4042892	486	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366007138 rs1166168345	486	F>S		No	ClinGen gnomAD
rs775039492 CA4042891	487	E>Q		No	ClinGen ExAC gnomAD
rs1212102453 CA366007099	488	F>L		No	ClinGen TOPMed
CA4042890 rs769265298	488	F>V		No	ClinGen ExAC gnomAD

No associated diseases with O75449

No regional properties for O75449

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O75449

Functions

		Description
EC Number	5.6.1.1	Enzymes altering polypeptide conformation or assembly
Subcellular Localization	Cytoplasm Midbody Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Cytoplasm, cytoskeleton, spindle	Predominantly cytoplasmic (PubMed:9658175) Localized diffusely in the cytoplasm during the interphase (PubMed:10751153) During metaphase is localized throughout the cell and more widely dispersed than the microtubules In anaphase and telophase is localized at the midbody region (PubMed:19261606) Also localized to the interphase centrosome and the mitotic spindle poles (By similarity) Enhanced recruitment to the mitotic spindle poles requires microtubules and interaction with KATNB1 (PubMed:10751153) Localizes within the cytoplasm, partially overlapping with microtubules, in interphase and to the mitotic spindle and spindle poles during mitosis (PubMed:26929214)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
katanin complex	A complex possessing an activity that couples ATP hydrolysis to the severing of microtubules; usually a heterodimer comprising a catalytic subunit (often 60kDa) and a regulatory subunit (often 80 kDa).
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitotic spindle pole	Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
spindle pole	Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
isomerase activity	Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
microtubule severing ATPase activity	Catalysis of the reaction: ATP + H2O = ADP + phosphate. Catalysis of the severing of a microtubule at a specific spot along its length, coupled to the hydrolysis of ATP.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.

4 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cytoplasmic microtubule organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell.
microtubule severing	The process in which a microtubule is broken down into smaller segments. Severing enzymes remove dimers from the middle of the filament to create new ends, unlike depolymerizing kinesins that use ATP to uncap microtubules at their ends.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O75351	VPS4B	Vacuolar protein sorting-associated protein 4B	Homo sapiens (Human)	PR
Q9UN37	VPS4A	Vacuolar protein sorting-associated protein 4A	Homo sapiens (Human)	EV
Q9UBP0	SPAST	Spastin	Homo sapiens (Human)	PR
A6NCM1	IQCA1L	IQ and AAA domain-containing protein 1-like	Homo sapiens (Human)	PR
Q86XH1	IQCA1	Dynein regulatory complex protein 11	Homo sapiens (Human)	PR
Q6PIW4	FIGNL1	Fidgetin-like protein 1	Homo sapiens (Human)	PR
Q8K0T4	Katnal1	Katanin p60 ATPase-containing subunit A-like 1	Mus musculus (Mouse)	PR
A0JMA9	katnal2	Katanin p60 ATPase-containing subunit A-like 2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q0IIR9	katna1	Katanin p60 ATPase-containing subunit A1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSLLMISENV	KLAREYALLG	NYDSAMVYYQ	GVLDQMNKYL	YSVKDTYLQQ	KWQQVWQEIN
70	80	90	100	110	120
VEAKHVKDIM	KTLESFKLDS	TPLKAAQHDL	PASEGEVWSM	PVPVERRPSP	GPRKRQSSQY
130	140	150	160	170	180
SDPKSHGNRP	STTVRVHRSS	AQNVHNDRGK	AVRCREKKEQ	NKGREEKNKS	PAAVTEPETN
190	200	210	220	230	240
KFDSTGYDKD	LVEALERDII	SQNPNVRWDD	IADLVEAKKL	LKEAVVLPMW	MPEFFKGIRR
250	260	270	280	290	300
PWKGVLMVGP	PGTGKTLLAK	AVATECKTTF	FNVSSSTLTS	KYRGESEKLV	RLLFEMARFY
310	320	330	340	350	360
SPATIFIDEI	DSICSRRGTS	EEHEASRRVK	AELLVQMDGV	GGTSENDDPS	KMVMVLAATN
370	380	390	400	410	420
FPWDIDEALR	RRLEKRIYIP	LPSAKGREEL	LRISLRELEL	ADDVDLASIA	ENMEGYSGAD
430	440	450	460	470	480
ITNVCRDASL	MAMRRRIEGL	TPEEIRNLSK	EEMHMPTTME	DFEMALKKVS	KSVSAADIER
490
YEKWIFEFGS	C