AiPD: Autoinhibited Protein Database

Q15814

Gene name	TBCC
Protein name	Tubulin-specific chaperone C
Names	Tubulin-folding cofactor C, CFC
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6903
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-216 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-216 (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 Q15814

Entry ID	Method	Resolution	Chain	Position	Source
2L3L	NMR	-	A	26-135	PDB
2YUH	NMR	-	A	181-346	PDB
AF-Q15814-F1	Predicted				AlphaFoldDB

364 variants for Q15814

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA364149946 rs1239399570	2	E>K		No	ClinGen TOPMed gnomAD
CA364149938 rs775730651	3	S>A		No	ClinGen ExAC gnomAD
CA3808914 rs770363307	3	S>F		No	ClinGen ExAC TOPMed gnomAD
CA364149939 rs775730651	3	S>P		No	ClinGen ExAC gnomAD
CA3808915 rs775730651	3	S>T		No	ClinGen ExAC gnomAD
rs781781329 CA3808912	4	V>A		No	ClinGen ExAC TOPMed gnomAD
CA364149932 rs781781329	4	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1213753387 CA364149929	5	S>G		No	ClinGen gnomAD
rs1213753387 CA364149930	5	S>R		No	ClinGen gnomAD
rs778588416 CA3808909	5	S>R		No	ClinGen ExAC TOPMed gnomAD
CA364149919 rs375456367	6	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1341338336 CA364149922	6	C>R		No	ClinGen TOPMed
rs375456367 CA3808908	6	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354443960 CA364149904	7	S>C		No	ClinGen TOPMed gnomAD
rs1354443960 CA364149908	7	S>F		No	ClinGen TOPMed gnomAD
rs935347480 CA138201624	8	A>G		No	ClinGen TOPMed
rs1463087771 CA364149899	8	A>T		No	ClinGen gnomAD
CA3808906 rs555582056	9	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555582056 CA3808905	9	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364149858 rs1408566288	10	A>V		No	ClinGen TOPMed gnomAD
rs767496374 CA3808903	11	V>L		No	ClinGen ExAC gnomAD
CA364149825 rs1184379395	12	R>K		No	ClinGen gnomAD
CA364149819 rs1201429767	12	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3808900 rs764324143	13	T>A		No	ClinGen ExAC gnomAD
rs775640967 CA364149811	13	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3808898 rs775640967	13	T>N		No	ClinGen ExAC TOPMed gnomAD
rs764324143 CA3808899	13	T>P		No	ClinGen ExAC gnomAD
CA3808897 rs775640967	13	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3808894 rs368703849	15	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA364149759 rs1354374542	16	M>I		No	ClinGen gnomAD
CA3808893 rs149120059	16	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs986263688 CA364149740	17	E>D		No	ClinGen TOPMed gnomAD
CA3808892 rs374555572	17	E>Q		No	ClinGen ESP ExAC gnomAD
CA3808891 rs773464175	17	E>V		No	ClinGen ExAC gnomAD
CA364149735 rs1314385549	18	S>A		No	ClinGen TOPMed
rs1208498314 CA364149717	19	Q>H		No	ClinGen gnomAD
rs1440567841 CA364149707	20	R>L		No	ClinGen gnomAD
CA3808890 rs547002427	21	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1397327211 CA364149705	21	D>N		No	ClinGen gnomAD
CA364149701 rs1397327211	21	D>Y		No	ClinGen gnomAD
CA3808889 rs144886339	22	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808888 rs774087155	23	S>N		No	ClinGen ExAC TOPMed gnomAD
CA3808887 rs755603439	24	L>R		No	ClinGen ExAC gnomAD
CA138201583 rs199677238	24	L>V		No	ClinGen 1000Genomes
CA3808884 rs370331799	25	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808885 rs370331799	25	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808883 rs751308503	26	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1228970500 CA364149660	26	P>T		No	ClinGen TOPMed
rs763798372 CA3808882	27	E>K		No	ClinGen ExAC TOPMed gnomAD
CA364149635 rs1333942550	28	R>Q		No	ClinGen gnomAD
rs752952851 CA3808880	30	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA364149617 rs1240812511	30	Q>R		No	ClinGen gnomAD
CA138201545 rs955507231	32	R>H		No	ClinGen Ensembl
CA138201541 rs199997534	33	E>*		No	ClinGen gnomAD
CA364149590 rs199997534	33	E>K		No	ClinGen gnomAD
rs765605646 CA3808879	36	R>W		No	ClinGen ExAC TOPMed gnomAD
rs759656691 CA3808878	37	Q>H		No	ClinGen ExAC gnomAD
CA364149520 rs1440594901	40	V>A		No	ClinGen gnomAD
CA3808877 rs776874627	40	V>F		No	ClinGen ExAC TOPMed gnomAD
rs776874627 CA364149524	40	V>I		No	ClinGen ExAC TOPMed gnomAD
rs961724626 CA138201535	41	E>K		No	ClinGen TOPMed
rs761092324 CA3808876 CA3808875	42	R>S		No	ClinGen ExAC gnomAD
CA364149503 rs1296443611	42	R>T		No	ClinGen gnomAD
rs1383949085 CA364149461	45	Q>R		No	ClinGen TOPMed gnomAD
rs1290841627 CA364149432	47	R>W		No	ClinGen gnomAD
CA364149424 rs1363445634	48	Q>*		No	ClinGen TOPMed gnomAD
rs1035224940 CA138201523	49	N>K		No	ClinGen TOPMed gnomAD
rs1448089308 CA364149395	50	Q>*		No	ClinGen TOPMed
rs772314057 CA364149387	50	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs371722048 CA3808872	51	E>D		No	ClinGen ExAC gnomAD
rs775097036 CA364149353	53	E>K		No	ClinGen ExAC gnomAD
rs775097036 CA3808871	53	E>Q		No	ClinGen ExAC gnomAD
rs969487338 CA138201493	54	K>M		No	ClinGen TOPMed gnomAD
rs745330106 CA3808869	55	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA364149294 rs74633281	56	N>S		No	ClinGen ExAC gnomAD
CA3808866 rs74633281	56	N>T		No	ClinGen ExAC gnomAD
CA364149287 rs1406620359	57	S>G		No	ClinGen gnomAD
CA3808865 rs757149636	58	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1011379968 CA138201467	59	F>L		No	ClinGen TOPMed
rs752578974 CA3808860	62	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3808859 rs752578974	62	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	64	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3808858 rs2234026 VAR_026822	65	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs139092352 CA3808857	66	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs949914352 CA138201440	67	E>Q		No	ClinGen gnomAD
CA364149106 rs1384497110	69	A>V		No	ClinGen gnomAD
rs1376200830 CA364149091	71	V>M		No	ClinGen gnomAD
rs1453648455 CA364149026	75	L>P		No	ClinGen gnomAD
rs1375886421 CA364149024	76	E>K		No	ClinGen gnomAD
rs1209405040 CA364148975	79	E>K		No	ClinGen TOPMed
rs1214088671 CA364148937	81	V>D		No	ClinGen gnomAD
rs112578716 CA364148926	82	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs112578716 CA3808854	82	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs768113400 CA3808853	85	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3808852 rs768113400	85	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1426236891 CA364148897	85	E>K		No	ClinGen TOPMed
rs768113400 CA364148895	85	E>V		No	ClinGen ExAC TOPMed gnomAD
VAR_067423 rs144361927 CA3808851	86	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1365148596 CA364148874	87	A>V		No	ClinGen TOPMed
CA364148853 rs376825498	90	R>G		No	ClinGen ESP TOPMed
rs531472211 CA364148850	90	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531472211 CA3808849	90	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA138201411 rs376825498	90	R>W		No	ClinGen ESP TOPMed
CA3808848 rs759190372	93	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1312304903 CA364148819	94	L>V		No	ClinGen gnomAD
CA3808847 rs776409172	95	Q>*		No	ClinGen ExAC gnomAD
rs770331761 CA364148771	98	I>F		No	ClinGen ExAC gnomAD
CA3808846 rs770331761	98	I>L		No	ClinGen ExAC gnomAD
CA364148759 rs1169621598	99	N>D		No	ClinGen gnomAD
CA138201388 rs1052889856	99	N>S		No	ClinGen gnomAD
rs1217240427 CA364148744	100	D>N		No	ClinGen TOPMed
CA138201385 rs867399639	101	S>*		No	ClinGen gnomAD
rs1475945698 CA364148711	102	V>L		No	ClinGen gnomAD
CA138201376 rs934364086	103	F>C		No	ClinGen Ensembl
rs746575834 CA3808845	103	F>V		No	ClinGen ExAC TOPMed gnomAD
rs773197480	104	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1228633 rs1186544096 CA364148671	104	F>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA364148654 rs1275714549	105	L>P		No	ClinGen gnomAD
CA364148645 rs1196943935	106	A>P		No	ClinGen gnomAD
CA3808841 rs747894998	106	A>V		No	ClinGen ExAC gnomAD
rs1256481137 CA364148632	107	A>S		No	ClinGen TOPMed gnomAD
rs1256481137 CA364148634	107	A>T		No	ClinGen TOPMed gnomAD
rs925651065 CA138201332	108	Y>C		No	ClinGen Ensembl
rs778856451 CA138201327	110	L>V		No	ClinGen ExAC TOPMed gnomAD
rs142954171 CA3808838	111	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3808839 rs754888820	111	R>W		No	ClinGen ExAC gnomAD
rs780376153 CA3808837	112	Q>*		No	ClinGen ExAC gnomAD
CA3808836 rs201282727	113	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750552163 CA3808835	114	Q>E		No	ClinGen ExAC gnomAD
rs762318017 CA3808833	117	L>P		No	ClinGen ExAC TOPMed gnomAD
CA364148491 rs1418099255	118	A>S		No	ClinGen gnomAD
rs1472678750 CA364148477	119	R>Q		No	ClinGen TOPMed
rs1163843570 CA364148481	119	R>W		No	ClinGen TOPMed gnomAD
rs372845286 CA364148443	121	Q>H		No	ClinGen gnomAD
rs764435616 CA3808831	122	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1409215474 CA364148420	123	A>V		No	ClinGen TOPMed
rs1229714818 CA364148407	124	L>*		No	ClinGen TOPMed gnomAD
rs1229714818 CA364148409	124	L>W		No	ClinGen TOPMed gnomAD
CA364148401 rs1165455292	125	A>T		No	ClinGen TOPMed
rs1349201219 CA364148392	125	A>V		No	ClinGen TOPMed
rs866765776 CA138201267	126	E>A		No	ClinGen Ensembl
rs1215913973 CA364148374	126	E>D		No	ClinGen gnomAD
rs1236905194 CA364148385	126	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	127	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763363107 CA3808830	127	R>W		No	ClinGen ExAC TOPMed gnomAD
CA138201261 rs866334273	129	R>P		No	ClinGen TOPMed gnomAD
rs866334273 CA138201262	129	R>Q		No	ClinGen TOPMed gnomAD
CA3808828 rs770655092	130	G>E		No	ClinGen ExAC gnomAD
rs370032657 CA138201260	130	G>R		No	ClinGen ESP
rs772145297	131	L>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3808825 rs375704758	133	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760064278 CA3808826	133	P>S		No	ClinGen ExAC gnomAD
rs1230081826 CA364148255	134	K>*		No	ClinGen TOPMed
CA3808824 rs200694990	135	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3808823 rs748095320	136	R>G		No	ClinGen ExAC gnomAD
CA364148187 rs1338516992	138	A>G		No	ClinGen TOPMed gnomAD
CA3808822 rs779052800	138	A>P		No	ClinGen ExAC gnomAD
rs779052800 CA364148191	138	A>S		No	ClinGen ExAC gnomAD
CA364148185 rs1338516992	138	A>V		No	ClinGen TOPMed gnomAD
CA3808821 rs768551856	139	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1483584211 CA364148163	140	K>E		No	ClinGen TOPMed
rs1483584211 CA364148164	140	K>Q		No	ClinGen TOPMed
CA3808820 rs749150201	141	T>S		No	ClinGen ExAC gnomAD
CA3808819 rs780102937	142	R>G		No	ClinGen ExAC gnomAD
CA3808818 rs756384032	142	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750408681 CA3808817	143	G>R		No	ClinGen ExAC gnomAD
CA138201210 rs916845744	147	A>V		No	ClinGen TOPMed gnomAD
CA364148033 rs540163900	148	S>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA138201209 rs540163900	148	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA3808814 rs369072850	150	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369072850 CA3808815	150	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808813 rs764633705	151	K>E		No	ClinGen ExAC gnomAD
rs558119867 CA3808812	151	K>R		No	ClinGen ExAC gnomAD
CA364147975 rs1306969712	152	V>A		No	ClinGen gnomAD
CA364147958 rs769885960	153	D>E		No	ClinGen gnomAD
rs753136044 CA3808811	153	D>V		No	ClinGen ExAC gnomAD
CA3808810 rs765898231	154	A>V		No	ClinGen ExAC gnomAD
rs1346570395 CA364147939	155	A>P		No	ClinGen gnomAD
CA3808808 rs376895575	156	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376895575 CA3808809	156	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3808807 VAR_026823 rs7742995	157	G>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1399609420 CA364147908	157	G>S		No	ClinGen gnomAD
rs201215074 CA3808805	158	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1189794460 CA364147869	159	P>L		No	ClinGen gnomAD
CA364147871 rs1189794460	159	P>R		No	ClinGen gnomAD
rs1395048613 CA364147874	159	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3808804 rs201664636	160	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3808803 rs201664636	160	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1487437771	160	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA138201173 rs374412421	160	P>S		No	ClinGen ESP TOPMed gnomAD
rs775372258 CA3808802	161	A>T		No	ClinGen ExAC gnomAD
CA364147838 rs1348434847	162	V>A		No	ClinGen gnomAD
CA3808801 rs769836035	162	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA138201156 rs769836035	162	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1282503555 CA364147793	165	I>L		No	ClinGen Ensembl
CA3808800 rs199582225	166	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364147764 rs1217229276	167	D>N		No	ClinGen gnomAD
CA3808799 rs781447407	168	S>F		No	ClinGen ExAC gnomAD
CA3808797 rs747129611	169	P>L		No	ClinGen ExAC gnomAD
CA3808798 rs2234027 VAR_020448	169	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758965883 CA3808795	171	P>L		No	ClinGen ExAC gnomAD
CA3808796 rs148808014	171	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs752947057 CA3808794	172	K>E		No	ClinGen ExAC gnomAD
rs1236314776 CA364147682	173	K>E		No	ClinGen TOPMed
rs544367395 CA3808793	174	A>V		No	ClinGen ExAC TOPMed gnomAD
rs750080534 CA3808791	175	E>G		No	ClinGen ExAC gnomAD
CA364147621 rs1167700883	176	G>E		No	ClinGen TOPMed gnomAD
rs767321281 CA3808790	178	L>F		No	ClinGen ExAC gnomAD
rs761370617 CA3808789	178	L>P		No	ClinGen ExAC gnomAD
CA364147600 rs761370617	178	L>R		No	ClinGen ExAC gnomAD
CA364147583 rs2234028	180	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364147579 rs1562442732	180	P>R		No	ClinGen Ensembl
CA3808786 rs2234028 VAR_024653	180	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3808787 rs2234028	180	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364147537 rs1208004915	182	W>C		No	ClinGen gnomAD
CA364147535 rs1309200698	183	V>I		No	ClinGen gnomAD
CA364147503 rs1315630170	184	C>*		No	ClinGen gnomAD
CA3808784 rs553492835	184	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA138201105 rs922871966	185	G>D		No	ClinGen TOPMed gnomAD
rs1414836476 CA364147488	186	F>I		No	ClinGen TOPMed gnomAD
CA364147461 rs1377899947	187	S>C		No	ClinGen gnomAD
rs1301595981 CA364147442	188	N>K		No	ClinGen TOPMed gnomAD
rs940460760 CA138201104	188	N>S		No	ClinGen TOPMed
CA138201102 rs961548023	189	L>P		No	ClinGen gnomAD
CA3808781 rs374188225 CA3808782	190	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA364147399 rs1464436143	191	S>C		No	ClinGen TOPMed gnomAD
rs1464436143 CA364147403	191	S>F		No	ClinGen TOPMed gnomAD
CA364147409 rs1361894539	191	S>T		No	ClinGen gnomAD
CA364147377 rs1420252232	193	V>I		No	ClinGen TOPMed gnomAD
rs1046034118 CA138201091	194	L>S		No	ClinGen TOPMed gnomAD
CA3808780 rs747041669	196	K>R		No	ClinGen ExAC gnomAD
rs2234029 CA138201085	197	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364147304 rs1481553037	197	R>T		No	ClinGen gnomAD
rs748676696 CA364147269	199	S>R		No	ClinGen ExAC gnomAD
rs970047963 CA138201079	202	H>D		No	ClinGen Ensembl
rs1440249138 CA364147225	202	H>P		No	ClinGen TOPMed
rs370034066 CA3808776	202	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808775 rs755339975	203	Q>*		No	ClinGen ExAC gnomAD
rs1320746679 CA364147193	203	Q>H		No	ClinGen gnomAD
rs754287824 CA3808774	204	R>L		No	ClinGen ExAC gnomAD
rs780945698 CA3808773	205	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	206	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364147162 rs1562442648	206	V>F		No	ClinGen Ensembl
rs1562442648 CA364147160	206	V>L		No	ClinGen Ensembl
CA364147151 rs1374657843	207	L>I		No	ClinGen TOPMed gnomAD
CA138201052 rs138187487	207	L>R		No	ClinGen ESP TOPMed
CA364147149 rs1374657843	207	L>V		No	ClinGen TOPMed gnomAD
CA138201048 rs978143196	208	L>W		No	ClinGen TOPMed gnomAD
CA364147121 rs1331305885	209	T>A		No	ClinGen gnomAD
CA3808772 rs756986479	209	T>N		No	ClinGen ExAC gnomAD
CA364147115 rs756986479	209	T>S		No	ClinGen ExAC gnomAD
rs1582791859 CA364147064	212	S>R		No	ClinGen Ensembl
rs147066602 CA3808770	213	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457537580 CA364147023	215	T>A		No	ClinGen gnomAD
rs755548389 CA3808768	215	T>M		No	ClinGen ExAC TOPMed gnomAD
rs985457372 CA138201032	217	R>G		No	ClinGen TOPMed
rs1562442595 CA364146975	219	Y>F		No	ClinGen Ensembl
rs1028874982 CA138201014	223	N>D		No	ClinGen TOPMed
rs1380812736 CA364146890	225	L>M		No	ClinGen gnomAD
rs200804573 CA138201003	226	R>W		No	ClinGen gnomAD
rs142790610 CA138201002	230	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA364146803 rs142790610	230	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142790610 CA3808765	230	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214127114 CA364146792	231	H>R		No	ClinGen gnomAD
rs373334460 CA3808764	232	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808763 rs773481378	234	K>N		No	ClinGen ExAC gnomAD
CA364146707 rs138808785	235	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808760 rs748218173	237	C>Y		No	ClinGen ExAC gnomAD
rs1472255185 CA364146644	238	G>S		No	ClinGen TOPMed gnomAD
CA364146616 rs1197848884	239	P>L		No	ClinGen TOPMed
rs1364808384 CA364146596	241	S>A		No	ClinGen TOPMed gnomAD
CA364146591 rs780575296	241	S>C		No	ClinGen ExAC gnomAD
CA3808756 rs780575296	241	S>F		No	ClinGen ExAC gnomAD
CA3808754 rs146027414	248	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA364146483 rs1388821787	248	D>N		No	ClinGen gnomAD
rs537815859 CA3808753	250	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1360047054 CA364146436	250	S>T		No	ClinGen gnomAD
rs1156947283 CA364146425	251	D>H		No	ClinGen gnomAD
rs757892065 CA3808752	253	V>M		No	ClinGen ExAC
CA3808749 rs759482421	255	A>S		No	ClinGen ExAC gnomAD
rs548820457 CA138200955	255	A>V		No	ClinGen 1000Genomes
CA364146315 rs1582791726	257	A>P		No	ClinGen Ensembl
TCGA novel	257	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766148665 CA138200950	258	C>*		No	ClinGen ExAC gnomAD
CA364146293 rs1264821143	258	C>G		No	ClinGen gnomAD
CA3808746 rs368688382	259	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1582791714 CA364146266	259	Q>P		No	ClinGen Ensembl
CA364146263 rs1582791714	259	Q>R		No	ClinGen Ensembl
rs773454233 CA3808745	261	L>R		No	ClinGen ExAC gnomAD
rs759990404 CA138200932	263	I>M		No	ClinGen Ensembl
CA3808743 rs761907028	263	I>T		No	ClinGen ExAC
CA364144922 rs1350622811	263	I>V		No	ClinGen gnomAD
rs1281730322 CA364144886	265	S>C		No	ClinGen gnomAD
CA364144879 rs774312032	265	S>I		No	ClinGen ExAC TOPMed gnomAD
CA3808742 rs774312032	265	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1223365642 CA364144869	266	T>A		No	ClinGen TOPMed gnomAD
CA364144854 rs1412725581	267	K>Q		No	ClinGen Ensembl
rs1340129351 CA364144803	270	R>G		No	ClinGen gnomAD
rs867206568 CA138200925	270	R>H		No	ClinGen Ensembl
CA3808740 rs769222297	274	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3808739 rs749812823	276	T>I		No	ClinGen ExAC TOPMed gnomAD
CA364144740 rs1465348410	277	S>G		No	ClinGen gnomAD
rs12175072 CA3808736 VAR_026824	279	A>T		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA364144716 rs1267178448	279	A>V		No	ClinGen TOPMed
CA3808734 rs758008012	280	I>M		No	ClinGen ExAC gnomAD
CA3808735 rs151022907	280	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747634669 CA3808733	281	V>M		No	ClinGen ExAC gnomAD
rs1257481077 CA364144680	283	D>N		No	ClinGen gnomAD
CA3808731 rs754550088	285	S>G		No	ClinGen ExAC gnomAD
CA138200897 rs561730671	285	S>R		No	ClinGen gnomAD
CA3808730 rs373655911	285	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs766345197 CA3808729	286	G>E		No	ClinGen ExAC gnomAD
CA364144619 rs1483911398	288	Q>*		No	ClinGen TOPMed
CA364144552 rs1400018951	291	P>L		No	ClinGen gnomAD
CA3808727 rs750210313	291	P>S		No	ClinGen ExAC gnomAD
CA824863590 rs1184683251	292	Y>*		No	ClinGen TOPMed
rs767724244 CA3808725	294	W>G		No	ClinGen ExAC gnomAD
rs1168178017 CA364144437	297	P>A		No	ClinGen gnomAD
rs1168178017 CA364144435	297	P>S		No	ClinGen gnomAD
CA364144353 rs774705277	301	K>N		No	ClinGen ExAC TOPMed gnomAD
CA138200858 rs940195414	301	K>R		No	ClinGen TOPMed
rs924220546 CA138200853	307	G>R		No	ClinGen TOPMed gnomAD
rs1348587329 CA364144206	309	D>G		No	ClinGen gnomAD
rs1441153364 CA364144217	309	D>N		No	ClinGen gnomAD
CA3808722 rs774648788	310	R>G		No	ClinGen ExAC gnomAD
rs1199628306 CA364144179	310	R>S		No	ClinGen TOPMed gnomAD
CA3808721 rs763170896	312	K>Q		No	ClinGen ExAC gnomAD
CA364144070 rs1235304656	315	W>C		No	ClinGen gnomAD
CA364144085 rs1308301355	315	W>G		No	ClinGen TOPMed
CA364144064 rs1357325370	316	N>D		No	ClinGen gnomAD
rs1562442352 CA364144050	317	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746193324 CA3808718	318	V>A		No	ClinGen ExAC gnomAD
CA3808719 rs770453007	318	V>I		No	ClinGen ExAC TOPMed gnomAD
CA364143993 rs1338606032	320	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1309109261 CA364143980	320	D>V		No	ClinGen gnomAD
TCGA novel	321	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389199519 CA364143916	323	W>*		No	ClinGen TOPMed
CA364143903 rs1447239969	323	W>C		No	ClinGen gnomAD
rs1582791522 CA364143881	325	A>S		No	ClinGen Ensembl
rs1582791518 CA364143876	325	A>V		No	ClinGen Ensembl
TCGA novel	326	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs910026232 CA138200828	326	R>Q		No	ClinGen TOPMed
CA3808715 rs771689308	327	D>G		No	ClinGen ExAC gnomAD
CA138200823 rs944229311	327	D>N		No	ClinGen TOPMed
CA138200817 rs912645252	328	M>I		No	ClinGen TOPMed
rs1582791503 CA364143786	331	P>R		No	ClinGen Ensembl
CA3808713 rs778676165	331	P>S		No	ClinGen ExAC gnomAD
CA3808712 rs564024820	332	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	334	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364143741 rs1162100766	334	S>R		No	ClinGen gnomAD
rs138350475 CA3808711	335	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3808710 rs779916252	336	L>I		No	ClinGen ExAC gnomAD
TCGA novel	336	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179876702 CA364143715	337	P>S		No	ClinGen gnomAD
TCGA novel	339	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3808709 rs200122342	339	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3808708 rs150901240	340	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562442288 CA364143668	340	E>V		No	ClinGen Ensembl
TCGA novel	341	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3808707 rs376701760	341	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3808706 rs757129310	342	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3808704 rs561714828	343	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs775736822 CA3808702	345	W>C		No	ClinGen ExAC gnomAD
CA3808701 rs765782764	346	D>H		No	ClinGen ExAC gnomAD

No associated diseases with Q15814

5 regional properties for Q15814

Type	Name	Position	InterPro Accession
domain	CARP motif	211 - 248	IPR006599-1
domain	CARP motif	249 - 283	IPR006599-2
domain	Tubulin binding cofactor C-like domain	204 - 321	IPR012945
domain	C-CAP/cofactor C-like domain	171 - 323	IPR017901
domain	Tubulin-specific chaperone C, N-terminal	27 - 135	IPR031925

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Detected predominantly in the photoreceptor connecting cilium
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
photoreceptor connecting cilium	The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone.

3 GO annotations of molecular function

Name	Definition
chaperone binding	Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
tubulin binding	Binding to monomeric or multimeric forms of tubulin, including microtubules.

3 GO annotations of biological process

Name	Definition
post-chaperonin tubulin folding pathway	Completion of folding of alpha- and beta-tubulin; takes place subsequent to chaperonin-mediated partial folding; mediated by a complex of folding cofactors.
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
tubulin complex assembly	The aggregation and bonding together of alpha- and beta-tubulin to form a tubulin heterodimer.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZE9	TBCC	Tubulin-specific chaperone C	Bos taurus (Bovine)	PR
Q8VCN9	Tbcc	Tubulin-specific chaperone C	Mus musculus (Mouse)	PR
Q9SMR2	TFCC	Tubulin-folding cofactor C	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MESVSCSAAA	VRTGDMESQR	DLSLVPERLQ	RREQERQLEV	ERRKQKRQNQ	EVEKENSHFF
70	80	90	100	110	120
VATFVRERAA	VEELLERAES	VERLEEAASR	LQGLQKLIND	SVFFLAAYDL	RQGQEALARL
130	140	150	160	170	180
QAALAERRRG	LQPKKRFAFK	TRGKDAASST	KVDAAPGIPP	AVESIQDSPL	PKKAEGDLGP
190	200	210	220	230	240
SWVCGFSNLE	SQVLEKRASE	LHQRDVLLTE	LSNCTVRLYG	NPNTLRLTKA	HSCKLLCGPV
250	260	270	280	290	300
STSVFLEDCS	DCVLAVACQQ	LRIHSTKDTR	IFLQVTSRAI	VEDCSGIQFA	PYTWSYPEID
310	320	330	340
KDFESSGLDR	SKNNWNDVDD	FNWLARDMAS	PNWSILPEEE	RNIQWD