AiPD: Autoinhibited Protein Database

Q99689

Gene name	FEZ1
Protein name	Fasciculation and elongation protein zeta-1
Names	Zygin I, Zygin-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9638
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

259-382 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

259-382 (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

1 structures for Q99689

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q99689-F1	Predicted				AlphaFoldDB

263 variants for Q99689

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756056176 CA230467561	3	A>S		No	ClinGen Ensembl
CA383182677 rs1431576285	9	D>E		No	ClinGen gnomAD
rs951473745 CA230467559	13	E>D		No	ClinGen Ensembl
rs148957397 CA6348341	15	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6348340 COSM1207000 rs758459572	16	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA383182631 rs758459572	16	R>G		No	ClinGen ExAC gnomAD
TCGA novel	16	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA230467551 rs138856048	16	R>Q		No	ClinGen ESP
rs1407430799 CA383182626	17	P>H		No	ClinGen gnomAD
rs1003486945 CA230467548	17	P>T		No	ClinGen Ensembl
rs1591603641 CA383182620	18	S>C		No	ClinGen Ensembl
CA6348339 rs750569959	18	S>P		No	ClinGen ExAC gnomAD
rs368523961 CA6348338	20	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391662277 CA383182605	21	E>K		No	ClinGen gnomAD
rs752708899 CA6348336	22	D>N		No	ClinGen ExAC gnomAD
rs759424170 CA6348334	23	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6348335 rs202033188	23	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA230467540 rs1012452559	25	E>D		No	ClinGen Ensembl
rs770770009 CA6348332	25	E>K		No	ClinGen ExAC TOPMed gnomAD
rs762696510 CA6348331	26	K>N		No	ClinGen ExAC gnomAD
CA6348330 rs772788152	27	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1053916675 CA230467532	28	Q>R		No	ClinGen Ensembl
CA383182550 rs1275396095	29	C>Y		No	ClinGen gnomAD
rs1215225459 CA383182530	31	Y>*		No	ClinGen TOPMed gnomAD
rs200409550 CA6348329	32	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748565380 CA6348328	36	H>Y		No	ClinGen ExAC gnomAD
rs1346718888 CA383182497	37	H>Y		No	ClinGen gnomAD
rs1403499067 CA383182489	38	L>H		No	ClinGen gnomAD
rs902907398 CA230467522	38	L>V		No	ClinGen TOPMed
rs1170783764 CA383182485	39	E>Q		No	ClinGen gnomAD
rs1416822815 CA383182456	43	L>F		No	ClinGen gnomAD
CA383182440 rs1480696074	45	E>D		No	ClinGen gnomAD
CA230467511 rs867006645 COSM168752	45	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA6348323 COSM924530 rs758553235	47	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6348321 rs374574169	50	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6348318 rs376586793	55	S>N		No	ClinGen ESP ExAC gnomAD
CA230467488 rs150213866	59	M>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	60	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6348316 rs751332078	61	D>N		No	ClinGen ExAC gnomAD
CA383182319 rs1283223094	63	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6348313 rs773031780	71	N>S		No	ClinGen ExAC TOPMed gnomAD
CA230467465 rs1050678	73	C>W		No	ClinGen Ensembl
rs368358264 CA6348309	75	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6348310 rs776990874	75	R>W		No	ClinGen ExAC gnomAD
CA383182227 rs1232979254	76	N>D		No	ClinGen TOPMed gnomAD
CA6348307 rs546220814 COSM1725252	79	A>T	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA6348305 rs746056464	82	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs147711169 CA6348304	83	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6348302 rs201008990	87	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383182103 rs1350380364	89	N>K		No	ClinGen TOPMed
rs777718274 CA6348301	93	I>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	94	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205580389 CA383182021	94	Q>K		No	ClinGen gnomAD
CA230467447 rs1039917255	96	E>K		No	ClinGen TOPMed
rs754904817 CA6348298	97	E>V		No	ClinGen ExAC gnomAD
rs766238154 CA6348296	98	E>A		No	ClinGen ExAC gnomAD
rs751262752 CA230467440	99	T>N		No	ClinGen TOPMed
CA383181887 rs751262752	99	T>S		No	ClinGen TOPMed
TCGA novel	100	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568385136 CA230467435	101	Q>E		No	ClinGen 1000Genomes
rs918651414 CA230467430	102	D>N		No	ClinGen gnomAD
rs918651414 CA383181821	102	D>Y		No	ClinGen gnomAD
CA6348293 rs761229146	103	E>D		No	ClinGen ExAC TOPMed gnomAD
rs750078721 CA6348294	103	E>K		No	ClinGen ExAC TOPMed gnomAD
rs750078721 CA383181790	103	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6348274 rs753458360	105	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1362498060 CA383180773	107	D>E		No	ClinGen gnomAD
rs1434884084 CA383180767	108	A>T		No	ClinGen TOPMed
CA6348273 rs763558511	111	D>E		No	ClinGen ExAC gnomAD
TCGA novel	116	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_020461 rs597570 CA6348269	123	D>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs768075517 CA6348270	123	D>G		No	ClinGen ExAC gnomAD
rs564769731 CA6348271	123	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA6348268 rs774719487	124	P>S		No	ClinGen ExAC gnomAD
CA6348267 rs572570595	125	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753505394 CA383180638	126	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6348265 rs200075974	127	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769973779 CA6348264	128	A>P		No	ClinGen ExAC gnomAD
CA6348263 rs748296374	129	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6348261 rs772072092	132	N>S		No	ClinGen ExAC TOPMed gnomAD
rs745810555 CA6348260	134	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6348232 rs766854281	138	I>M		No	ClinGen ExAC gnomAD
CA383179773 rs1259483277	139	H>R		No	ClinGen TOPMed
CA383179741 rs1419266652	140	E>D		No	ClinGen TOPMed gnomAD
rs1462313344 CA383179641	145	E>G		No	ClinGen gnomAD
rs750751119 CA6348230	147	N>S		No	ClinGen ExAC TOPMed gnomAD
rs753834541 CA6348229	148	E>K		No	ClinGen ExAC gnomAD
rs150934370 COSM3808709 CA383179584	149	K>N	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6348227 rs777028010	150	S>G		No	ClinGen ExAC gnomAD
CA6348226 rs764205809	150	S>N		No	ClinGen ExAC gnomAD
CA383179565 rs1454991762	152	N>S		No	ClinGen TOPMed
CA383179536 rs1035609030	155	G>C		No	ClinGen TOPMed gnomAD
rs1444648646 CA383179534	155	G>D		No	ClinGen gnomAD
CA230453497 rs1035609030	155	G>S		No	ClinGen TOPMed gnomAD
rs770703429 CA6348223	156	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1315358965 CA383179524	156	I>V		No	ClinGen TOPMed
rs148401183 CA6348222	157	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	161	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3710017 rs780871225 CA6348218	165	D>N	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs754499200 CA6348217	165	D>V		No	ClinGen ExAC gnomAD
CA383178947 rs1460076857	168	I>V		No	ClinGen TOPMed
rs1446193614 CA383178936	169	E>A		No	ClinGen gnomAD
CA383178930 rs1200569253	170	E>A		No	ClinGen TOPMed
CA383178891 rs1260708798	175	M>L		No	ClinGen gnomAD
rs1240020675 CA383178880	176	Q>R		No	ClinGen TOPMed
rs1565534917 CA383178872	177	N>S		No	ClinGen Ensembl
CA6348197 rs768128287	178	S>F		No	ClinGen ExAC gnomAD
CA383178867 rs1440222371	178	S>P		No	ClinGen TOPMed
rs746688240 CA6348196	179	P>L		No	ClinGen ExAC gnomAD
CA6348195 rs779385669	180	D>V		No	ClinGen ExAC gnomAD
CA6348194 rs201511080	181	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1405521624 CA383178849	181	P>R		No	ClinGen TOPMed
rs201511080 CA230451218	181	P>S		No	ClinGen ExAC TOPMed gnomAD
rs201511080 CA383178851	181	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779615808 CA6348192	186	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA383178802 rs1272405006	188	L>M		No	ClinGen gnomAD
rs1228729531 CA383178790	189	E>D		No	ClinGen gnomAD
CA6348191 rs757688883	190	E>Q		No	ClinGen ExAC gnomAD
rs754185701 CA6348190	192	D>A		No	ClinGen ExAC gnomAD
CA6348189 rs778209877	195	E>K		No	ClinGen ExAC TOPMed gnomAD
CA383178748 rs1162706317	196	T>A		No	ClinGen gnomAD
CA383178720 rs1176357115	200	A>T		No	ClinGen TOPMed
rs752994672 CA6348187	202	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6348188 rs756238963	202	S>T		No	ClinGen ExAC gnomAD
rs759660082 CA6348185	203	V>A		No	ClinGen ExAC gnomAD
TCGA novel	204	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6348182 rs761745196	205	L>P		No	ClinGen ExAC gnomAD
TCGA novel	206	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180551140 CA383178646	206	Q>K		No	ClinGen gnomAD
rs1201243037 CA383178615	207	E>D		No	ClinGen gnomAD
rs551418603 CA6348181	208	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1446703559 CA383178603	208	M>R		No	ClinGen TOPMed
rs1446703559 CA383178605	208	M>T		No	ClinGen TOPMed
CA230451186 rs988066318	209	Q>E		No	ClinGen Ensembl
CA383178575 rs1591586164	210	A>S		No	ClinGen Ensembl
rs954884846 CA230451158	213	Q>L		No	ClinGen Ensembl
rs768519953 CA6348180	215	F>S		No	ClinGen ExAC TOPMed gnomAD
rs775252980 CA6348178	216	N>D		No	ClinGen ExAC gnomAD
rs1370212461 CA383178470	217	N>H		No	ClinGen TOPMed
CA6348177 rs771689586	217	N>S		No	ClinGen ExAC gnomAD
rs758833210 CA230451127	218	N>S		No	ClinGen gnomAD
TCGA novel	219	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383178431 rs1225729155	219	W>L		No	ClinGen gnomAD
CA6348176 COSM1352366 rs745432120	219	W>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6348175 rs778568238	221	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA383178401 rs778568238	221	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA230447909 rs1007814682	225	R>G		No	ClinGen TOPMed
rs1396509072 CA383177722	227	M>L		No	ClinGen TOPMed
rs1316443041 CA383177704	229	G>E		No	ClinGen TOPMed gnomAD
CA6348145 rs764152625	230	S>C		No	ClinGen ExAC gnomAD
rs753701037 CA6348146	230	S>P		No	ClinGen ExAC gnomAD
CA383177689 rs1301082863	232	L>M		No	ClinGen gnomAD
rs201620946 CA6348143	234	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531561230 CA383177635	238	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6348141 rs531561230	238	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383177618 rs1354381275	239	V>M		No	ClinGen TOPMed
rs774184375 CA6348140	241	G>R		No	ClinGen ExAC gnomAD
CA6348138 rs762579376	242	A>T		No	ClinGen ExAC gnomAD
TCGA novel	243	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6348136 rs770268577	244	R>C		No	ClinGen ExAC TOPMed gnomAD
rs748616670 CA6348135	244	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776931323 CA6348134	245	D>E		No	ClinGen ExAC gnomAD
rs919694643 CA230447843	246	F>L		No	ClinGen TOPMed gnomAD
CA6348133 rs139926772	247	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA230447814 rs954036237	249	E>G		No	ClinGen Ensembl
rs1591582627 CA383177452	251	V>G		No	ClinGen Ensembl
CA383177455 rs1197539862	251	V>L		No	ClinGen TOPMed
rs780307067 CA6348131	252	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1216205084 CA383177444	252	Q>R		No	ClinGen gnomAD
CA6348130 rs758399243	255	A>V		No	ClinGen ExAC gnomAD
CA6348129 rs200904803	256	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199780980 CA6348128	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199780980 CA383177383	256	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383177374 rs1254593234	257	R>Q		No	ClinGen TOPMed
CA230447798 rs939724094	257	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs756025764 CA383177354	258	D>E		No	ClinGen ExAC TOPMed gnomAD
rs183035322 CA6348126	259	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs898712732 CA230447788	260	L>Q		No	ClinGen Ensembl
CA230447785 rs764773759	262	F>L		No	ClinGen Ensembl
COSM458697 CA383177299 rs1430774054	263	E>Q	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	269	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6348121 rs762516733	272	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1487966941 CA383177154 CA383177153	273	V>L		No	ClinGen gnomAD
CA383177147 rs1263120637	274	L>I		No	ClinGen gnomAD
rs199511805 CA6348119	275	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA230447756 rs886213992	280	K>Q		No	ClinGen Ensembl
CA230447754 rs1056888928	281	Q>K		No	ClinGen Ensembl
CA383177062 rs1307948054	283	E>K		No	ClinGen gnomAD
rs762343972 CA6348118	284	Q>E		No	ClinGen ExAC gnomAD
rs1216564086 CA383177048	284	Q>H		No	ClinGen gnomAD
COSM4165687 rs1347208502 CA383177046	285	R>*	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6348117 rs777164179	285	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA383177032 rs1387521360	287	L>P		No	ClinGen gnomAD
rs768989637 CA6348116	288	M>R		No	ClinGen ExAC gnomAD
CA383177010 rs1291794558	290	K>R		No	ClinGen gnomAD
CA383176997 rs775688546	292	R>L		No	ClinGen ExAC TOPMed gnomAD
rs775688546 CA6348114	292	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761088831 CA6348115	292	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6348113 rs772273844	293	K>T		No	ClinGen ExAC gnomAD
rs746096459 CA6348112	294	E>G		No	ClinGen ExAC gnomAD
CA6348111 rs757734015	295	K>E		No	ClinGen ExAC gnomAD
CA6348110 rs770953106	295	K>N		No	ClinGen ExAC gnomAD
rs1226455388 CA383176961	298	S>N		No	ClinGen gnomAD
CA6348109 rs748073341	302	S>N		No	ClinGen ExAC gnomAD
CA383176933 rs748073341	302	S>T		No	ClinGen ExAC gnomAD
rs559483840 COSM541528 CA230447696	303	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs559483840 CA6348105	303	R>P		No	ClinGen ExAC TOPMed gnomAD
rs559483840 CA6348106	303	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6348107 rs533020026	303	R>W		No	ClinGen ExAC gnomAD
CA6348103 rs200391395	304	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325620715 CA383176873	311	P>S		No	ClinGen gnomAD
CA6348101 rs540242545	312	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383176862 rs1330725034	313	K>E		No	ClinGen gnomAD
CA6348053 rs766871607	314	R>C		No	ClinGen ExAC gnomAD
CA6348052 rs763227338	314	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA383176523 rs1219596442	316	S>G		No	ClinGen gnomAD
rs1229167005 CA383176450	319	G>S		No	ClinGen TOPMed
CA6348050 rs139178115	320	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383176359 rs181830556	325	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775496641 CA6348048	327	G>S		No	ClinGen ExAC gnomAD
CA6348047 rs771840165	329	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779552697 CA230446560	329	R>H		No	ClinGen gnomAD
CA6348045 rs200973012	332	F>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6348044 rs372861605	333	G>S		No	ClinGen ESP ExAC gnomAD
rs1479093377 CA383176220	336	G>E		No	ClinGen gnomAD
rs202007923 CA6348043	338	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA383176166 rs1198238415	340	Q>*		No	ClinGen gnomAD
CA383176161 rs1166623707	340	Q>R		No	ClinGen Ensembl
CA383176039 rs1217066603	341	Y>H		No	ClinGen gnomAD
rs762801339 CA6348026	345	V>A		No	ClinGen ExAC gnomAD
CA230445518 rs113374379	346	I>T		No	ClinGen Ensembl
CA383175988 rs1565531274	347	P>L		No	ClinGen Ensembl
rs762054096 CA6348025	349	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6348024 rs769377953	351	K>R		No	ClinGen ExAC gnomAD
CA383175923 rs1342900838	352	A>S		No	ClinGen gnomAD
CA6348023 rs747858697	354	P>A		No	ClinGen ExAC TOPMed gnomAD
CA383175869 rs1412912389	356	S>L		No	ClinGen gnomAD
CA6348020 rs112732577	358	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112732577 RCV000968242 CA6348019	358	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA230445448 rs758831644	359	D>E		No	ClinGen ExAC TOPMed gnomAD
CA383175806 rs1378970818	361	Q>R		No	ClinGen TOPMed gnomAD
rs750753028 CA6348017	362	M>I		No	ClinGen ExAC TOPMed gnomAD
rs985062881 CA230445438	365	N>D		No	ClinGen Ensembl
TCGA novel	365	N>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	365	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321034596 CA383175099	367	L>V		No	ClinGen gnomAD
TCGA novel	370	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383175023 rs1591577861	377	V>M		No	ClinGen Ensembl
rs757683990 CA6347997	382	T>M		No	ClinGen ExAC gnomAD
CA230443399 rs200878231	383	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA6347995 rs778120357	385	I>T		No	ClinGen ExAC TOPMed gnomAD
CA383174936 rs1449561154	388	V>A		No	ClinGen gnomAD
rs755099205 CA6347973	389	L>F		No	ClinGen ExAC gnomAD
CA383174928 rs1170389732	390	C>S		No	ClinGen gnomAD
rs1359761814 CA383174922	390	C>W		No	ClinGen TOPMed
CA6347972 rs750347817	391	P>H		No	ClinGen ExAC gnomAD
CA383174912 rs1408895841	392	T>N		No	ClinGen gnomAD
CA602316521 rs1378970287	392	T>N		No	ClinGen gnomAD

No associated diseases with Q99689

No regional properties for Q99689

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q99689

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cell membrane	Colocalizes with both, alpha- and gamma-tubulin Translocated from the plasma membrane to the cytoplasm by activation of the PKC zeta (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
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.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
growth cone	The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
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.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
gamma-tubulin binding	Binding to the microtubule constituent protein gamma-tubulin.
protein kinase C binding	Binding to protein kinase C.
protein N-terminus binding	Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.

12 GO annotations of biological process

Name	Definition
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cellular response to growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
establishment of cell polarity	The specification and formation of anisotropic intracellular organization or cell growth patterns.
establishment of mitochondrion localization	The directed movement of the mitochondrion to a specific location.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
mitochondrion morphogenesis	The process in which the anatomical structures of a mitochondrion are generated and organized.
negative regulation of autophagosome assembly	Any process that stops, prevents or reduces the frequency, rate or extent of autophagosome assembly.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
positive regulation of anterograde axonal transport of mitochondrion	Any process that activates or increasesthe frequency, rate or extent of the directed movement of mitochondria along microtubules in axons away from the cell body and towards the presynapse.
positive regulation of neuron differentiation	Any process that activates or increases the frequency, rate or extent of neuron differentiation.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MEAPLVSLDE	EFEDLRPSCS	EDPEEKPQCF	YGSSPHHLED	PSLSELENFS	SEIISFKSME
70	80	90	100	110	120
DLVNEFDEKL	NVCFRNYNAK	TENLAPVKNQ	LQIQEEEETL	QDEEVWDALT	DNYIPSLSED
130	140	150	160	170	180
WRDPNIEALN	GNCSDTEIHE	KEEEEFNEKS	ENDSGINEEP	LLTADQVIEE	IEEMMQNSPD
190	200	210	220	230	240
PEEEEEVLEE	EDGGETSSQA	DSVLLQEMQA	LTQTFNNNWS	YEGLRHMSGS	ELTELLDQVE
250	260	270	280	290	300
GAIRDFSEEL	VQQLARRDEL	EFEKEVKNSF	ITVLIEVQNK	QKEQRELMKK	RRKEKGLSLQ
310	320	330	340	350	360
SSRIEKGNQM	PLKRFSMEGI	SNILQSGIRQ	TFGSSGTDKQ	YLNTVIPYEK	KASPPSVEDL
370	380	390
QMLTNILFAM	KEDNEKVPTL	LTDYILKVLC	PT