AiPD: Autoinhibited Protein Database

Q14318

Gene name	FKBP8 (FKBP38)
Protein name	Peptidyl-prolyl cis-trans isomerase FKBP8
Names	PPIase FKBP8, 38 kDa FK506-binding protein, 38 kDa FKBP, FKBP-38, hFKBP38, FK506-binding protein 8, FKBP-8, FKBPR38, Rotamase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23770
EC number	5.2.1.8: Cis-trans isomerases
Protein Class	PEPTIDYLPROLYL ISOMERASE (PTHR46512)

Descriptions

FK506 binding protein 38 (FKBP38) is a multi-domain protein containing a peptidyl-prolyl cis-trans isomerase domain (PPlase) domain followed by tetratricopeptide repeats (TPR), and transmembrane domain. FKBP38 regulates apoptosis through unique interactions with multiple regulators including Bcl-2. The N-terminal extension preceding the catalytic domain of FKBP38 has an autoinhibitory activity. The core isomerase activity of FKBP38 is inhibited by transient interactions involving the flexible N-terminal extension that precedes the catalytic domain. CaM/Ca2+ binds to the N-terminal extension and thereby releases the autoinhibitory contacts between the N-terminal extension and the catalytic domain.

Autoinhibitory domains (AIDs)

Target domain	115-204 (Peptidyl-prolyl cis-trans isomerase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

1-32 (N-terminal extension)

Target domain

115-204 (Peptidyl-prolyl cis-trans isomerase domain)

Relief mechanism

Partner binding (CaM/Ca2+ binding to N-terminal extension)

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

References

Kang C et al. (2013) "Functional role of the flexible N-terminal extension of FKBP38 in catalysis", Scientific reports, 3, 2985

Autoinhibited structure

Activated structure

7 structures for Q14318

Entry ID	Method	Resolution	Chain	Position	Source
2AWG	X-ray	160 A	A	90-205	PDB
2D9F	NMR	-	A	91-211	PDB
2F2D	NMR	-	A	92-210	PDB
2MF9	NMR	-	A	58-205	PDB
3EY6	X-ray	105 A	A	92-210	PDB
5MGX	X-ray	218 A	E/F/G/H	91-380	PDB
AF-Q14318-F1	Predicted				AlphaFoldDB

253 variants for Q14318

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000850453 CA404825348 rs1485300085	241	A>T	Marfanoid habitus and intellectual disability [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs543806511 CA9313387	3	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404830909 rs1243784318	7	P>R		No	ClinGen gnomAD
CA404830865 rs1316686457	10	P>S		No	ClinGen gnomAD
rs1444051981 CA404830771	15	P>R		No	ClinGen gnomAD
rs11541428 CA306215528 COSM993123	16	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs371498399 CA9313381	17	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376029668 CA9313380	20	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437565472 CA404830677	21	L>P		No	ClinGen gnomAD
CA9313376 rs375921391	22	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404448556 CA404830649	23	D>N		No	ClinGen gnomAD
CA404830602 rs933275119	24	F>L		No	ClinGen TOPMed gnomAD
CA404830593 rs1481834096	25	E>K		No	ClinGen TOPMed
rs1481834096 CA404830600	25	E>Q		No	ClinGen TOPMed
rs1438019537 CA404830494	28	D>E		No	ClinGen gnomAD
CA9313372 rs763260727	32	D>N		No	ClinGen ExAC TOPMed gnomAD
rs763260727 CA404830432	32	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1489317297 CA404830386	33	A>G		No	ClinGen gnomAD
CA404830384 rs1489317297	33	A>V		No	ClinGen gnomAD
CA306215496 rs933677129	34	E>K		No	ClinGen TOPMed
CA404829963 rs933677129	34	E>Q		No	ClinGen TOPMed
CA9313369 rs760028266	34	E>V		No	ClinGen ExAC gnomAD
rs776172610 COSM1564615 CA9313368	35	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
rs1272735468 CA404829933	36	E>A		No	ClinGen Ensembl
CA9313364 rs772769071	41	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771709504 CA9313362	44	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA404829688 rs1233902961	47	D>G		No	ClinGen Ensembl
CA404829681 rs1600540423	48	D>A		No	ClinGen Ensembl
rs140276721 CA9313358	48	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333540563 CA404829621	51	E>G		No	ClinGen TOPMed
CA9313357 rs755032883	53	P>S		No	ClinGen ExAC gnomAD
CA404829571 rs1176669010	54	P>A		No	ClinGen gnomAD
rs749228796 CA9313356	54	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM389279 rs1484076170 CA404829489	58	M>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1190477085 CA404829496	58	M>T		No	ClinGen TOPMed gnomAD
rs1238967082 CA404829455	60	Q>E		No	ClinGen gnomAD
CA404829434 rs751621562	60	Q>H		No	ClinGen ExAC gnomAD
CA9313352 rs764269613	61	P>H		No	ClinGen ExAC gnomAD
CA9313350 rs537148195	62	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759836176 CA9313348	63	A>V		No	ClinGen ExAC TOPMed gnomAD
CA404829232 rs1310946899	69	P>R		No	ClinGen gnomAD
CA306215433 rs1043736516	70	G>W		No	ClinGen Ensembl
rs371852654 CA9313344	74	R>G		No	ClinGen ESP ExAC gnomAD
rs771664117 CA9313343	74	R>Q		No	ClinGen ExAC gnomAD
CA9313341 rs774346333	75	E>D		No	ClinGen ExAC TOPMed gnomAD
rs747798983 CA9313342	75	E>K		No	ClinGen ExAC gnomAD
rs1003925988 CA306215412	76	F>L		No	ClinGen TOPMed gnomAD
rs768588696 CA9313340	78	A>G		No	ClinGen ExAC gnomAD
CA9313339 rs749027975	79	A>D		No	ClinGen ExAC gnomAD
rs763584828 CA9313338	80	M>T		No	ClinGen ExAC gnomAD
CA306215401 COSM1611837 rs368085900	80	M>V	liver [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA404828916 rs1355349814	82	P>T		No	ClinGen TOPMed
rs1366617087 CA404828880	83	E>D		No	ClinGen TOPMed gnomAD
CA404828898 rs1182452268	83	E>K		No	ClinGen gnomAD
CA404828857 rs1568412140	84	P>L		No	ClinGen Ensembl
CA404828864 rs756031889	84	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756031889 CA9313337	84	P>T		No	ClinGen ExAC TOPMed gnomAD
rs374983500 CA9313335	85	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9313334 rs535000575	85	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752925784 CA9313333	86	P>L		No	ClinGen ExAC gnomAD
CA9313331 rs11574806	87	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_044225 rs11574806 CA9313330	87	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9313329 rs552738926	88	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772664956 CA9313327	89	A>D		No	ClinGen ExAC
CA404828731 rs1312164985	90	P>A		No	ClinGen gnomAD
CA9313326 rs767041599	90	P>L		No	ClinGen ExAC gnomAD
CA404828601 rs1452794116	95	D>G		No	ClinGen gnomAD
CA404828567 rs1363380054	96	I>L		No	ClinGen gnomAD
CA306214813 rs750954282	100	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9313309 rs750954282	100	G>W		No	ClinGen ExAC TOPMed gnomAD
CA404827516 rs1272152659	101	L>M		No	ClinGen TOPMed gnomAD
CA306214810 rs199981346	103	R>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs1226654646 CA404827432	106	T>A		No	ClinGen gnomAD
CA9313306 rs564752007	106	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs763890504 CA9313304	107	L>R		No	ClinGen ExAC TOPMed gnomAD
CA404827391 rs762688348	108	V>A		No	ClinGen ExAC TOPMed gnomAD
rs762688348 CA9313303	108	V>G		No	ClinGen ExAC TOPMed gnomAD
CA306214804 rs1007540103	111	P>L		No	ClinGen TOPMed gnomAD
rs1466166801 CA404827355	111	P>S		No	ClinGen TOPMed gnomAD
CA404827358 rs1466166801	111	P>T		No	ClinGen TOPMed gnomAD
CA9313301 COSM260946 rs756695076	114	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs544946458 CA9313300	116	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9313299 rs776661768	116	R>H		No	ClinGen ExAC TOPMed gnomAD
rs139527778 CA9313297	117	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255663317 CA404827194	119	K>E		No	ClinGen TOPMed gnomAD
rs1195143967 CA404827188	119	K>R		No	ClinGen TOPMed gnomAD
CA404827176 rs1345718743	120	G>D		No	ClinGen gnomAD
rs1230722079 CA404827150	123	V>L		No	ClinGen gnomAD
CA9313294 rs749514182	124	T>I		No	ClinGen ExAC gnomAD
rs556938614 CA306214789	125	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA9313291 rs750717633	127	L>V		No	ClinGen ExAC gnomAD
rs781770914 CA9313290	129	T>M		No	ClinGen ExAC gnomAD
COSM993122 rs1341140154 CA404827072	130	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA9313286 rs757785461	136	R>Q		No	ClinGen ExAC gnomAD
rs1178842404 CA404827013	136	R>W		No	ClinGen gnomAD
CA404827006 rs149393037	137	V>L		No	ClinGen ESP TOPMed gnomAD
CA306214774 rs149393037	137	V>M		No	ClinGen ESP TOPMed gnomAD
CA9313285 rs543340984	141	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404826951 rs543340984	141	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9313283 rs759397510	144	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759397510 CA404826927	144	V>M		No	ClinGen ExAC TOPMed gnomAD
CA404826904 rs1190624475	146	T>A		No	ClinGen TOPMed
rs1369810398 CA404826879	148	G>D		No	ClinGen TOPMed
rs1278016314 CA404826863	150	C>G		No	ClinGen gnomAD
rs760604410 CA9313280 COSM3822354	152	V>I	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1484753127 CA404826773	155	A>S		No	ClinGen gnomAD
rs1484753127 CA404826776	155	A>T		No	ClinGen gnomAD
CA404826764 rs1396839068	156	L>V		No	ClinGen TOPMed
CA404826698 rs1333693604	161	P>L		No	ClinGen TOPMed
CA404826704 rs1333693604	161	P>Q		No	ClinGen TOPMed
rs758809393 CA9313251	163	M>L		No	ClinGen ExAC gnomAD
CA9313252 rs758809393	163	M>V		No	ClinGen ExAC gnomAD
rs778281150 CA9313249	165	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9313244 rs750173945	167	E>D		No	ClinGen ExAC gnomAD
CA9313245 rs755935067	167	E>Q		No	ClinGen ExAC gnomAD
CA9313243 COSM993121 rs767544339	168	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9313241 rs200492048	170	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199547679 CA404826597	171	V>F		No	ClinGen TOPMed
CA9313240 rs765242501	172	T>I		No	ClinGen ExAC gnomAD
CA9313239 rs369362313	174	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9313238 rs549708240	175	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs773417154 CA9313235	176	K>N		No	ClinGen ExAC gnomAD
rs761170150 CA9313236	176	K>R		No	ClinGen ExAC gnomAD
CA404826505 rs1191487364	179	Y>C		No	ClinGen gnomAD
rs748588052 CA9313233	180	G>S		No	ClinGen ExAC gnomAD
CA9313232 rs188185089	181	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1271172262 CA404826233	185	S>G		No	ClinGen TOPMed
CA404826215 rs1178964320	186	P>T		No	ClinGen gnomAD
rs753944406 CA9313221	188	I>F		No	ClinGen ExAC gnomAD
CA404826152 rs1199023048	189	P>H		No	ClinGen TOPMed
CA404826160 rs1211485653	189	P>S		No	ClinGen gnomAD
rs113307565 CA9313219	190	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9313218 rs373750416	190	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA404826139 rs373750416	190	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9313220 rs113307565	190	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9313216 rs762172427	191	H>Y		No	ClinGen ExAC gnomAD
CA9313214 rs769103996	192	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9313213 rs201140645	192	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1416600175 CA404825996	199	T>N		No	ClinGen gnomAD
CA404825991 rs1373384104	200	L>V		No	ClinGen gnomAD
CA404825973 rs1172704687	201	K>E		No	ClinGen gnomAD
CA9313212 rs201710065	202	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1161591394 CA404825919	204	V>A		No	ClinGen gnomAD
CA404825892 rs1249967430	206	G>R		No	ClinGen gnomAD
rs757031781 CA9313209	209	L>M		No	ClinGen ExAC gnomAD
rs757031781 CA9313208	209	L>V		No	ClinGen ExAC gnomAD
CA306214422 rs2314668	210	E>Q		No	ClinGen Ensembl
CA404825741 rs1600535313	213	T>R		No	ClinGen Ensembl
rs777617707 CA9313206	216	E>Q		No	ClinGen ExAC gnomAD
CA404825662 rs1305501146	217	R>L		No	ClinGen TOPMed
CA9313204 rs754038245	218	V>M		No	ClinGen ExAC TOPMed gnomAD
CA404825635 rs1236381009	219	A>V		No	ClinGen gnomAD
CA306214413 rs868552092	221	A>T		No	ClinGen Ensembl
CA404825601 rs1315833295	222	N>S		No	ClinGen gnomAD
rs1234593802 CA404825589	223	R>Q		No	ClinGen TOPMed gnomAD
CA9313202 rs375406802	223	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187276385 CA404825564	225	R>W		No	ClinGen TOPMed
CA404825532 rs1600535208	227	C>G		No	ClinGen Ensembl
CA9313199 rs762107899	228	G>S		No	ClinGen ExAC gnomAD
rs1386388002 CA404825433	233	Q>H		No	ClinGen TOPMed
rs763448432 CA404825408	235	A>E		No	ClinGen ExAC gnomAD
rs763448432 CA9313196	235	A>V		No	ClinGen ExAC gnomAD
rs745339783 CA404825395	236	D>E		No	ClinGen ExAC TOPMed gnomAD
CA404825400 rs1600535144	236	D>G		No	ClinGen Ensembl
CA9313194 rs769294379	236	D>N		No	ClinGen ExAC gnomAD
rs776165734 CA9313192	238	V>I		No	ClinGen ExAC gnomAD
rs1600535122 CA404825359	239	L>P		No	ClinGen Ensembl
rs1600535090 CA404825276	245	D>E		No	ClinGen Ensembl
rs1287886403 CA404825294	245	D>N		No	ClinGen TOPMed
rs962206697 CA306214392	251	I>V		No	ClinGen Ensembl
CA9313183 rs367943562	252	T>I		No	ClinGen ESP ExAC gnomAD
CA404825177 rs1381435007	253	S>C		No	ClinGen gnomAD
CA404825176 rs1381435007	253	S>F		No	ClinGen gnomAD
rs1293094092 CA404825181	253	S>T		No	ClinGen gnomAD
rs751939678 CA9313181	255	A>T		No	ClinGen ExAC gnomAD
CA9313157 rs765926771	258	D>N		No	ClinGen ExAC gnomAD
CA9313156 rs760036022	262	E>K		No	ClinGen ExAC gnomAD
CA9313155 rs773031578	264	E>K		No	ClinGen ExAC gnomAD
rs1236771017 CA404821990	265	A>V		No	ClinGen TOPMed gnomAD
rs761750949 CA9313153	266	Q>E		No	ClinGen ExAC gnomAD
rs978206524 CA306214239	266	Q>H		No	ClinGen TOPMed gnomAD
CA306214241 rs371165569	266	Q>R		No	ClinGen ESP TOPMed gnomAD
rs749237572 CA9313149	279	A>V		No	ClinGen ExAC gnomAD
CA404821730 rs1433232980	281	S>A		No	ClinGen gnomAD
rs778014771 CA404821639	286	D>H		No	ClinGen ExAC TOPMed gnomAD
rs778014771 CA9313145	286	D>N		No	ClinGen ExAC TOPMed gnomAD
rs11541424 CA306214230	287	H>Y		No	ClinGen Ensembl
CA9313144 rs758585209	289	R>C		No	ClinGen ExAC TOPMed gnomAD
CA404821560 rs758585209	289	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9313143 rs753124091	289	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758585209 CA404821557	289	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9313141 rs755238463	290	A>V		No	ClinGen ExAC
CA404821504 rs1208530110	293	R>C		No	ClinGen TOPMed gnomAD
CA404821493 rs1485206868	295	C>R		No	ClinGen gnomAD
CA404821459 rs1278231522	297	L>R		No	ClinGen gnomAD
rs974927432 CA306214219	302	Q>E		No	ClinGen Ensembl
rs1375177195 CA404821139	311	R>C		No	ClinGen gnomAD
CA9313134 rs745659664	311	R>L		No	ClinGen ExAC gnomAD
CA9313133 rs768513900	314	K>R		No	ClinGen ExAC gnomAD
CA404844682 rs1243704968	320	G>E		No	ClinGen TOPMed
CA404844686 rs1418468436	320	G>W		No	ClinGen gnomAD
CA404844613 rs1255115965	323	S>G		No	ClinGen gnomAD
CA9313103 rs780279721	323	S>N		No	ClinGen ExAC gnomAD
CA306210978 rs1007979517	324	E>K		No	ClinGen gnomAD
CA306210977 rs953957801	327	P>H		No	ClinGen gnomAD
rs953957801 CA404844503	327	P>L		No	ClinGen gnomAD
CA404844022 rs1183392310	339	N>K		No	ClinGen TOPMed
rs751720062 CA9313070	341	T>M		No	ClinGen ExAC TOPMed gnomAD
rs751720062 CA9313069	341	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1455741381 CA404843739	344	A>E		No	ClinGen gnomAD
rs187595132 CA9313067	344	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144976335 CA9313066	347	S>L		No	ClinGen ESP ExAC gnomAD
rs1008953397 CA306210927	350	V>L		No	ClinGen TOPMed
rs1463412229 CA404843588	351	K>R		No	ClinGen gnomAD
CA404843574 rs1312010714	352	K>E		No	ClinGen TOPMed
CA9313063 rs777128222	353	H>R		No	ClinGen ExAC TOPMed gnomAD
rs771523688 CA404843511	354	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9313062 rs771523688	354	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1464064536 CA404843497	355	A>T		No	ClinGen TOPMed gnomAD
CA9313060 rs200336385	355	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9313058 rs747644640	356	Q>L		No	ClinGen ExAC gnomAD
CA9313057 rs202202469	357	R>Q		No	ClinGen ExAC gnomAD
CA404843456 rs1380453817	358	S>N		No	ClinGen TOPMed
CA9313056 rs754595106	359	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9313055 rs367694382	362	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs553830583 CA9313054	363	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA404843362 rs1335030032	365	R>Q		No	ClinGen TOPMed
CA9313052 rs750335116	365	R>W		No	ClinGen ExAC gnomAD
rs1600527051 CA404843292	370	N>T		No	ClinGen Ensembl
CA9313050 rs762968551	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767452570 CA9313051	373	R>W		No	ClinGen ExAC TOPMed gnomAD
rs752805932 CA9313049	375	P>S		No	ClinGen ExAC gnomAD
CA9313048 rs765617173	378	C>F		No	ClinGen ExAC gnomAD
rs960850880 CA306210923	379	P>R		No	ClinGen Ensembl
rs1166337925 CA404843042	383	A>T		No	ClinGen gnomAD
CA9313036 rs755894944	386	I>L		No	ClinGen ExAC TOPMed gnomAD
CA404842888 rs755894944	386	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1485858150 CA404842861	387	P>S		No	ClinGen gnomAD
rs1213223035 CA404842816	388	W>S		No	ClinGen gnomAD
CA404842755 rs1600526455	390	W>*		No	ClinGen Ensembl
rs781044099 CA9313034	392	F>V		No	ClinGen ExAC gnomAD
CA9313033 rs757210930	394	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1314862907 CA404842583	395	T>I		No	ClinGen TOPMed
rs1235147076 CA404842563	396	A>V		No	ClinGen TOPMed
rs765416957 CA9313031	397	V>I		No	ClinGen ExAC TOPMed gnomAD
rs765416957 CA404842552	397	V>L		No	ClinGen ExAC TOPMed gnomAD
CA404842515 rs1409635138	398	A>V		No	ClinGen gnomAD
CA404842486 rs755038922	399	L>F		No	ClinGen ExAC gnomAD
CA306210869 rs933276965	400	G>E		No	ClinGen TOPMed
CA404842435 rs1412336554	401	G>D		No	ClinGen gnomAD
CA9313027 rs760993884	409	A>T		No	ClinGen ExAC gnomAD
rs1181306975 CA404842262	409	A>V		No	ClinGen TOPMed gnomAD
rs919262421 CA306210867	412	N>I		No	ClinGen TOPMed

No associated diseases with Q14318

5 regional properties for Q14318

Type	Name	Position	InterPro Accession
domain	FKBP-type peptidyl-prolyl cis-trans isomerase domain	115 - 204	IPR001179
repeat	Tetratricopeptide repeat 2	307 - 339	IPR013105
repeat	Tetratricopeptide repeat	228 - 261	IPR019734-1
repeat	Tetratricopeptide repeat	272 - 305	IPR019734-2
repeat	Tetratricopeptide repeat	306 - 339	IPR019734-3

Functions

		Description
EC Number	5.2.1.8	Cis-trans isomerases
Subcellular Localization	Mitochondrion Mitochondrion membrane ; Single-pass membrane protein; Cytoplasmic side ;
PANTHER Family	PTHR46512	PEPTIDYLPROLYL ISOMERASE
PANTHER Subfamily	PTHR46512:SF3	PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP8
PANTHER Protein Class	chaperone
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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).
integral component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum 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.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

5 GO annotations of molecular function

Name	Definition
disordered domain specific binding	Binding to a disordered domain of a protein.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
peptidyl-prolyl cis-trans isomerase activity	Catalysis of the reaction: peptidyl-proline (omega=180) = peptidyl-proline (omega=0).
protein folding chaperone	Binding to a protein or a protein-containing complex to assist the protein folding process.

12 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
camera-type eye development	The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.
cell fate specification	The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment.
dorsal/ventral neural tube patterning	The process in which the neural tube is regionalized in the dorsoventral axis.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
multicellular organism growth	The increase in size or mass of an entire multicellular organism, as opposed to cell growth.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
positive regulation of BMP signaling pathway	Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity.
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QQ71	FKBP6	Inactive peptidyl-prolyl cis-trans isomerase FKBP6	Bos taurus (Bovine)	PR
Q9W1I9	shu	Inactive peptidyl-prolyl cis-trans isomerase shutdown	Drosophila melanogaster (Fruit fly)	PR
Q02790	FKBP4	Peptidyl-prolyl cis-trans isomerase FKBP4	Homo sapiens (Human)	PR
O35465	Fkbp8	Peptidyl-prolyl cis-trans isomerase FKBP8	Mus musculus (Mouse)	SS
Q3B7U9	Fkbp8	Peptidyl-prolyl cis-trans isomerase FKBP8	Rattus norvegicus (Rat)	SS
Q7DMA9	PAS1	Peptidyl-prolyl cis-trans isomerase PASTICCINO1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MASCAEPSEP	SAPLPAGVPP	LEDFEVLDGV	EDAEGEEEEE	EEEEEEDDLS	ELPPLEDMGQ
70	80	90	100	110	120
PPAEEAEQPG	ALAREFLAAM	EPEPAPAPAP	EEWLDILGNG	LLRKKTLVPG	PPGSSRPVKG
130	140	150	160	170	180
QVVTVHLQTS	LENGTRVQEE	PELVFTLGDC	DVIQALDLSV	PLMDVGETAM	VTADSKYCYG
190	200	210	220	230	240
PQGRSPYIPP	HAALCLEVTL	KTAVDGPDLE	MLTGQERVAL	ANRKRECGNA	HYQRADFVLA
250	260	270	280	290	300
ANSYDLAIKA	ITSSAKVDMT	FEEEAQLLQL	KVKCLNNLAA	SQLKLDHYRA	ALRSCSLVLE
310	320	330	340	350	360
HQPDNIKALF	RKGKVLAQQG	EYSEAIPILR	AALKLEPSNK	TIHAELSKLV	KKHAAQRSTE
370	380	390	400	410
TALYRKMLGN	PSRLPAKCPG	KGAWSIPWKW	LFGATAVALG	GVALSVVIAA	RN