AiPD: Autoinhibited Protein Database

Q02790

Gene name	FKBP4 (FKBP52)
Protein name	Peptidyl-prolyl cis-trans isomerase FKBP4
Names	PPIase FKBP4, 51 kDa FK506-binding protein, FKBP51, 52 kDa FK506-binding protein, 52 kDa FKBP, FKBP-52, 59 kDa immunophilin, p59, FK506-binding protein 4, FKBP-4, FKBP59, HSP-binding immunophilin, HBI, Immunophilin FKBP52, Rotamase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2288
EC number	5.2.1.8: Cis-trans isomerases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

378-459 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

378-459 (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

13 structures for Q02790

Entry ID	Method	Resolution	Chain	Position	Source
1N1A	X-ray	240 A	A/B	1-140	PDB
1P5Q	X-ray	280 A	A/B/C	146-459	PDB
1Q1C	X-ray	190 A	A	2-260	PDB
1QZ2	X-ray	300 A	A/B/C	145-459	PDB
4DRJ	X-ray	180 A	A	1-140	PDB
4LAV	X-ray	180 A	A/B	16-260	PDB
4LAW	X-ray	240 A	A/B	16-260	PDB
4LAX	X-ray	201 A	A	16-260	PDB
4LAY	X-ray	170 A	A	1-260	PDB
4TW8	X-ray	300 A	A/B	21-255	PDB
6RCY	X-ray	230 A	A	1-148	PDB
8FFV	EM	301 A	D	1-459	PDB
AF-Q02790-F1	Predicted				AlphaFoldDB

349 variants for Q02790

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA383379882 rs1330851765	2	T>A		No	ClinGen gnomAD
CA383379886 rs1182820420	2	T>I		No	ClinGen TOPMed
CA383379885 rs1182820420	2	T>R		No	ClinGen TOPMed
rs767313392 CA6390203	3	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	3	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752485526 CA6390204	5	E>A		No	ClinGen ExAC gnomAD
rs1285546029 CA383379924	8	A>T		No	ClinGen TOPMed
CA231637002 rs1051173374	9	T>N		No	ClinGen TOPMed gnomAD
CA383379935 rs1384211057	10	E>K		No	ClinGen gnomAD
CA6390206 CA383379951 rs764003311	12	G>R		No	ClinGen ExAC TOPMed gnomAD
CA383379958 rs1371133830	13	A>E		No	ClinGen TOPMed gnomAD
CA6390207 rs753332465	13	A>S		No	ClinGen ExAC gnomAD
rs150655432 CA383379968	14	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1168259133 CA383379964	14	Q>P		No	ClinGen gnomAD
CA383379973 rs1297069634	15	S>L		No	ClinGen TOPMed
CA6390210 rs750127588	15	S>P		No	ClinGen ExAC gnomAD
rs565460723 CA6390211	16	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA6390212 rs781595848	17	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1165924358 CA383380034	23	V>E		No	ClinGen TOPMed
rs749320398 CA383380110	29	Q>*		No	ClinGen ExAC gnomAD
CA6390216 rs749320398	29	Q>E		No	ClinGen ExAC gnomAD
rs1196523005 CA383380114	29	Q>R		No	ClinGen TOPMed
rs1262493113 CA383380137	30	D>E		No	ClinGen TOPMed
CA383380161 rs1297934932	32	G>S		No	ClinGen gnomAD
CA231637099 rs202167235	33	V>M		No	ClinGen 1000Genomes
rs1221999582 CA383380189	34	L>R		No	ClinGen TOPMed
rs759783549 CA6390219	35	K>N		No	ClinGen ExAC gnomAD
rs754666683 CA6390252	38	K>R		No	ClinGen ExAC TOPMed gnomAD
CA383380874 rs1286526705	41	G>C		No	ClinGen TOPMed
rs1434535535 CA383380880	41	G>D		No	ClinGen TOPMed gnomAD
rs764421075 CA6390253	42	T>R		No	ClinGen ExAC gnomAD
rs1981656 CA231638770	44	T>S		No	ClinGen Ensembl
rs142587247 CA6390254 RCV000947406	45	E>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	45	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	45	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757758013 CA6390255	48	M>T		No	ClinGen ExAC gnomAD
CA383380966 rs1309345558	48	M>V		No	ClinGen gnomAD
rs779395342 CA6390256	49	I>T		No	ClinGen ExAC TOPMed gnomAD
CA383381026 rs1369537547	52	R>*		No	ClinGen gnomAD
CA383381029 rs1221132914	52	R>Q		No	ClinGen TOPMed gnomAD
rs758429843 CA6390258	53	V>I		No	ClinGen ExAC TOPMed gnomAD
rs780282208 CA383381053	55	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6390259 rs780282208	55	V>I		No	ClinGen ExAC TOPMed gnomAD
rs747165184 CA6390260	56	H>R		No	ClinGen ExAC gnomAD
CA231638841 rs972375721	57	Y>H		No	ClinGen Ensembl
TCGA novel	59	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440352675 CA383381209	69	S>C		No	ClinGen TOPMed
CA6390263 rs144746421	71	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA383381233 rs1449716060	73	R>C		No	ClinGen TOPMed gnomAD
CA6390264 rs774772140	73	R>H		No	ClinGen ExAC TOPMed gnomAD
CA383381513 rs1248441906	86	V>F		No	ClinGen TOPMed
CA6390289 rs762125645	86	V>G		No	ClinGen ExAC gnomAD
TCGA novel	89	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200095319 CA231639568	92	I>L		No	ClinGen TOPMed
CA383381566 rs1187567413	92	I>T		No	ClinGen gnomAD
CA383381575 rs1565396422	93	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA383381584 rs1221719224	95	A>P		No	ClinGen TOPMed
CA231639585 rs993356144	96	T>P		No	ClinGen TOPMed
CA231639586 rs191266357	97	M>T		No	ClinGen 1000Genomes
CA231639587 rs762868919	98	K>*		No	ClinGen Ensembl
rs201091442 CA6390291	99	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1412405549 CA383381614	100	G>R		No	ClinGen gnomAD
rs1603481365 CA383381633	102	V>G		No	ClinGen Ensembl
CA383381662 rs1366296045	106	T>I		No	ClinGen TOPMed
rs1414129665 CA383381937	111	Y>*		No	ClinGen gnomAD
CA231639621 rs892739531	111	Y>F		No	ClinGen TOPMed
CA383381992 rs1565396463	114	G>D		No	ClinGen Ensembl
CA383381988 rs1377416089	114	G>S		No	ClinGen gnomAD
rs1408516657 CA383382017	115	S>L		No	ClinGen gnomAD
rs751620593 CA6390294	119	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6390295 rs755133039	120	P>A		No	ClinGen ExAC gnomAD
CA6390297 rs527359061	124	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527359061 CA6390298	124	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450326530 CA383382176	125	N>D		No	ClinGen TOPMed
TCGA novel	125	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	125	N>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6390299 rs145385559	125	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA231639679 rs145385559	125	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	126	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749174239 CA6390300	127	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	128	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6390302 rs778925433	128	L>I		No	ClinGen ExAC gnomAD
CA231639706 rs545116794	129	V>L		No	ClinGen Ensembl
CA231639715 rs959037648	130	F>S		No	ClinGen TOPMed
TCGA novel	132	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6390319 rs756286274	133	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6390320 rs778062760	135	F>S		No	ClinGen ExAC TOPMed gnomAD
CA383382460 rs1328366143	137	F>S		No	ClinGen gnomAD
CA231640354 rs762958722	139	G>E		No	ClinGen TOPMed
rs753521506 CA6390321	140	E>A		No	ClinGen ExAC gnomAD
rs866990185 CA231640361	143	T>K		No	ClinGen TOPMed
COSM1207176 rs866990185 CA231640364	143	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6390323 rs778781262	145	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1308800332 CA383382557	145	E>K		No	ClinGen gnomAD
CA6390324 rs191293085	146	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383382590 rs1356995060	147	D>G		No	ClinGen gnomAD
rs772045995 CA6390325	149	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6390326 rs779521467	150	I>L		No	ClinGen ExAC gnomAD
CA383382643 rs1262487103	151	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA383382636 rs1188230807	151	I>V		No	ClinGen gnomAD
CA231640401 rs142464168 COSM938520	152	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP NCI-TCGA TOPMed gnomAD
rs746593810 CA6390327	152	R>H		No	ClinGen ExAC TOPMed gnomAD
CA231640398 rs142464168	152	R>S		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs768123978 CA6390328	154	I>V		No	ClinGen ExAC gnomAD
rs1167551753 CA383382714	157	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1062478 CA231640418	157	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1062478 CA383382717	157	R>P		No	ClinGen gnomAD
CA383382726 rs1565396827	158	G>D		No	ClinGen Ensembl
rs763189904 CA6390331	158	G>S		No	ClinGen ExAC gnomAD
rs539950609 CA231640430	164	P>L		No	ClinGen Ensembl
rs891675403 CA231640433	165	N>S		No	ClinGen TOPMed
rs1242303106 CA383382846	166	E>D		No	ClinGen TOPMed
rs1185483685 CA383382852	167	G>S		No	ClinGen gnomAD
rs200798844 CA6390332	167	G>V		No	ClinGen ExAC gnomAD
CA6390333 rs761447742	169	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6390335 rs768206629	170	V>M		No	ClinGen ExAC TOPMed gnomAD
rs528424327 CA231640451	171	E>K		No	ClinGen 1000Genomes
CA383382889 rs1265991230	172	V>I		No	ClinGen gnomAD
rs1031996000 CA231640601	173	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	173	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6390356 rs776164317	175	E>G		No	ClinGen ExAC gnomAD
CA383382927 rs1295086708	176	G>E		No	ClinGen TOPMed gnomAD
rs760628848 CA6390357	177	Y>*		No	ClinGen ExAC gnomAD
CA383382941 rs1174973235	178	Y>F		No	ClinGen gnomAD
rs376058719 CA6390358	178	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6390360 rs762081103	179	K>E		No	ClinGen ExAC
rs758199458 CA6390363	181	K>N		No	ClinGen ExAC gnomAD
CA6390362 rs374042199 RCV000919285	181	K>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	181	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383382966 rs1410432750	182	L>V		No	ClinGen gnomAD
CA383382986 rs1365293223	184	D>E		No	ClinGen gnomAD
rs1017820517 CA231640636	185	Q>*		No	ClinGen TOPMed
CA6390365 rs751486111	185	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA231640657 rs927155815	186	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780740336 COSM938521 CA6390367	186	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747679046 CA6390368	187	E>A		No	ClinGen ExAC gnomAD
rs141855441 CA6390369	189	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6390370 rs55672055 COSM2204670 RCV000917859	189	R>H	breast [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1432186598 CA383383016	190	F>Y		No	ClinGen Ensembl
rs376456473 CA6390371	192	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253184834 CA383383045	194	E>D		No	ClinGen gnomAD
rs772597983 CA6390372	194	E>K		No	ClinGen ExAC TOPMed gnomAD
rs772597983 CA6390373	194	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs747525966 CA6390374	196	E>G		No	ClinGen ExAC gnomAD
rs56196860 CA6390375	197	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383383102 rs1435431591	203	G>S		No	ClinGen gnomAD
CA6390377 rs761886074	206	R>K		No	ClinGen ExAC TOPMed gnomAD
CA383383150 rs1443465887	207	A>T		No	ClinGen gnomAD
rs769944304 CA6390378	209	Q>R		No	ClinGen ExAC gnomAD
rs371138035 CA6390380	210	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6390381 rs766142249 COSM1361115	210	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6390383 rs759514100	211	M>I		No	ClinGen ExAC gnomAD
CA231640731 rs1042734137	215	E>Q		No	ClinGen Ensembl
CA383383294 rs1274200834	216	H>R		No	ClinGen gnomAD
rs1246852961 CA383383321	218	I>T		No	ClinGen TOPMed gnomAD
rs200255491 CA6390384	218	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6390385 rs144527066	219	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1194478423 CA383383339	220	Y>H		No	ClinGen TOPMed
CA383383358 rs1404701697	221	L>F		No	ClinGen gnomAD
rs757016850 CA6390389	222	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6390388 rs143820830	222	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	224	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6390391 rs747396122	224	S>R		No	ClinGen ExAC gnomAD
TCGA novel	225	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs543150665 CA6390412	228	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA231641191 rs371669858	229	S>G		No	ClinGen ESP
rs556973575 CA6390413	229	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1226885984 CA383384808	231	G>V		No	ClinGen gnomAD
CA6390416 rs771131216	242	E>G		No	ClinGen ExAC gnomAD
rs749374918 CA6390415	242	E>K		No	ClinGen ExAC gnomAD
CA6390417 rs774463734	244	K>N		No	ClinGen ExAC gnomAD
CA231641279 rs1039399869	248	H>L		No	ClinGen Ensembl
CA383385178 rs771735767	248	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1259461362 CA383385240	253	E>K		No	ClinGen TOPMed gnomAD
rs1482040025 CA383385262	254	K>R		No	ClinGen gnomAD
CA6390437 rs779093155	255	A>G		No	ClinGen ExAC gnomAD
rs1245142421 CA383385311	255	A>T		No	ClinGen TOPMed gnomAD
CA383385326 rs1397033388	256	K>Q		No	ClinGen gnomAD
rs140321109 CA6390439	256	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1603481553 CA383385357	258	S>A		No	ClinGen Ensembl
CA383385393 rs1397870014	260	E>G		No	ClinGen gnomAD
rs1411950939 CA383385411	261	M>I		No	ClinGen gnomAD
rs1252063010 CA383385426	262	N>K		No	ClinGen gnomAD
CA383385494 rs1369704048	267	L>V		No	ClinGen TOPMed gnomAD
CA383385512 rs1362460961	268	E>G		No	ClinGen TOPMed gnomAD
rs776731509 CA6390443	268	E>Q		No	ClinGen ExAC gnomAD
CA6390444 rs761345277	272	I>T		No	ClinGen ExAC gnomAD
rs1341405720 CA383385582	275	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	276	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369826677 COSM161083 CA6390447	276	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372836178 COSM3688158 CA6390446	276	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA231641425 rs199520088	280	Y>S		No	ClinGen gnomAD
rs766025730 CA6390448	281	F>L		No	ClinGen ExAC gnomAD
CA6390449 rs753001598	281	F>L		No	ClinGen ExAC gnomAD
CA6390450 rs756497175	282	K>R		No	ClinGen ExAC gnomAD
rs899312644 CA231641619	283	E>G		No	ClinGen Ensembl
CA6390471 rs762218575	283	E>K		No	ClinGen ExAC TOPMed gnomAD
CA383385653 rs1312153823	285	K>E		No	ClinGen gnomAD
rs150316795 CA383385673	287	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1263797853 CA383385689	290	L>I		No	ClinGen TOPMed
rs1203167347 CA383385707	292	Q>H		No	ClinGen TOPMed
rs758569908 CA6390475	294	K>E		No	ClinGen ExAC gnomAD
rs751800526 CA6390477	296	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6390479 rs780835389	297	V>M		No	ClinGen ExAC TOPMed gnomAD
rs769561303 CA6390481	301	E>G		No	ClinGen ExAC gnomAD
rs1336115054 CA383385774	302	Y>C		No	ClinGen TOPMed
TCGA novel	303	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383385790 rs1486288314	304	S>C		No	ClinGen gnomAD
rs144630885 CA6390483	308	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144630885 CA6390482	308	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770400725 CA6390484	309	E>K		No	ClinGen ExAC
rs773902439 CA6390485	310	E>G		No	ClinGen ExAC TOPMed gnomAD
CA383385836 rs1373881019	311	A>T		No	ClinGen gnomAD
CA6390486 rs759178167	311	A>V		No	ClinGen ExAC gnomAD
rs776791993 CA6390488	312	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs762248029 CA6390489	314	A>T		No	ClinGen ExAC gnomAD
CA231641699 rs922306492	315	Q>*		No	ClinGen TOPMed gnomAD
CA383385869 rs765609799	316	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6390490 rs765609799	316	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1014212097 CA231641728	318	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	318	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1603481596 CA383385901	322	H>P		No	ClinGen Ensembl
rs750970764 CA6390491	325	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1020219262 CA231641734	327	M>I		No	ClinGen Ensembl
TCGA novel	332	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA231641748 rs184543678	333	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1318971920 CA383385981	334	A>S		No	ClinGen gnomAD
CA6390495 rs755186050	335	F>L		No	ClinGen ExAC gnomAD
CA231641767 rs1000218110	336	S>A		No	ClinGen Ensembl
CA6390496 rs539277079	339	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1350283661 CA383386015	340	E>K		No	ClinGen TOPMed
TCGA novel	341	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764770209 CA231641779	341	S>T		No	ClinGen gnomAD
CA231641789 rs933691817	343	N>D		No	ClinGen TOPMed gnomAD
rs982827966 CA231641796	344	K>R		No	ClinGen TOPMed
CA6390516 rs767595993	348	L>V		No	ClinGen ExAC gnomAD
CA6390518 rs756343629	349	D>E		No	ClinGen ExAC gnomAD
CA231642295 rs955192758	349	D>G		No	ClinGen TOPMed
CA383386171 rs1418624564	349	D>H		No	ClinGen gnomAD
CA231642309 rs1029935397	350	S>G		No	ClinGen gnomAD
rs982485987 CA231642320	350	S>T		No	ClinGen TOPMed
CA383386211 CA6390520 rs753702643	351	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1325431912 CA383386231	353	E>*		No	ClinGen gnomAD
rs757116153 TCGA novel CA6390521	353	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA6390523 rs199705099	356	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6390524 rs199705099	356	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779469668 CA6390525	357	F>C		No	ClinGen ExAC gnomAD
CA231642347 TCGA novel rs962354909	357	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA6390526 rs746651193	358	R>C		No	ClinGen ExAC gnomAD
CA383386315 rs1298156460	359	R>Q		No	ClinGen TOPMed gnomAD
rs1378261926 CA383386313	359	R>W		No	ClinGen TOPMed
rs1565397887 CA383386329	360	G>A		No	ClinGen Ensembl
rs773706542 CA6390528	365	A>S		No	ClinGen ExAC gnomAD
TCGA novel	365	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138530244 CA6390530	366	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA383386439 rs1213032311	367	N>S		No	ClinGen gnomAD
CA383386454 rs1241073836	368	D>G		No	ClinGen TOPMed gnomAD
CA6390531 rs377158214	369	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	370	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1603481651 CA383386503	370	E>D		No	ClinGen Ensembl
rs199617718 CA6390534	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6390533 COSM1207174 rs767616167	373	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6390535 rs143021274	374	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383386624 rs1359417871	376	F>S		No	ClinGen TOPMed
CA383386731 rs1277699675	379	V>L		No	ClinGen gnomAD
rs765115246 CA6390539	381	Q>L		No	ClinGen ExAC gnomAD
COSM161082 rs1354136802 CA383386810	382	L>V	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	383	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383386843 rs1603481658	383	Y>S		No	ClinGen Ensembl
rs750325599 CA383386867	384	P>S		No	ClinGen ExAC gnomAD
rs750325599 CA6390540	384	P>T		No	ClinGen ExAC gnomAD
CA6390541 rs1555075202	385	N>K		No	ClinGen Ensembl
rs1603481663 CA383386904	385	N>S		No	ClinGen Ensembl
CA6390544 rs779602240	388	A>V		No	ClinGen ExAC gnomAD
CA383387009 rs1447041774	389	A>T		No	ClinGen gnomAD
rs1220111070 CA383387063	390	K>R		No	ClinGen gnomAD
TCGA novel	391	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6390548 rs749632850	391	T>S		No	ClinGen ExAC
rs1255250121 CA383387166	393	L>M		No	ClinGen gnomAD
rs771391455 CA383387212	395	V>L		No	ClinGen ExAC gnomAD
CA6390549 rs771391455	395	V>M		No	ClinGen ExAC gnomAD
CA6390552 rs772523766	399	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6390551 rs746377303	399	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA383387327 rs1603481674	400	I>T		No	ClinGen Ensembl
rs199923813 CA6390553	401	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1407570039 CA383387374	402	R>S		No	ClinGen gnomAD
rs760680004 CA6390554	403	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA6390557 rs201879189	406	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776865658 CA6390556	406	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201034010 CA6390559	409	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278543878 CA383387557	410	L>F		No	ClinGen gnomAD
rs751032605 CA6390562	413	N>H		No	ClinGen ExAC gnomAD
rs754477446 CA6390563	413	N>S		No	ClinGen ExAC TOPMed gnomAD
rs754477446 CA383387622	413	N>T		No	ClinGen ExAC TOPMed gnomAD
CA383387749 rs1565398022	417	R>K		No	ClinGen Ensembl
rs1347036181 CA383387778	418	L>R		No	ClinGen gnomAD
CA383387821 rs1603481683	420	E>G		No	ClinGen Ensembl
rs375946541 CA231642564	420	E>K		No	ClinGen gnomAD
CA383387811 rs375946541	420	E>Q		No	ClinGen gnomAD
rs1603481684 CA383387851	421	E>G		No	ClinGen Ensembl
CA383387836 rs1180848549	421	E>K		No	ClinGen gnomAD
CA383387886 rs1033322201	422	E>D		No	ClinGen gnomAD
CA231642574 rs879015932	423	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1470637041 CA383387929	424	K>E		No	ClinGen gnomAD
CA383387938 rs1271468191	424	K>N		No	ClinGen TOPMed
rs773339152 CA231644054	425	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773339152 CA6390598	425	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1183980478 CA383389240	425	A>V		No	ClinGen gnomAD
CA6390599 rs757671133	427	A>G		No	ClinGen ExAC gnomAD
CA6390600 rs770611717	429	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1178705412 CA383389283	429	A>P		No	ClinGen TOPMed gnomAD
rs759544554 CA6390602	433	D>H		No	ClinGen ExAC TOPMed gnomAD
rs551642916 CA6390603	434	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6390604 rs775086424	435	P>S		No	ClinGen ExAC gnomAD
VAR_050624 rs1042228 CA231644102	436	T>P		No	ClinGen UniProt Ensembl dbSNP
CA383389366 rs1042228	436	T>S		No	ClinGen Ensembl
CA383389380 rs1394599190	437	D>Y		No	ClinGen gnomAD
COSM1128614 rs200588430 CA231644118	438	T>R	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA383389412 rs1241602557	439	E>D		No	ClinGen TOPMed
CA383389402 rs1391096056	439	E>Q		No	ClinGen gnomAD
rs1310049667 CA383389417	440	M>L		No	ClinGen gnomAD
CA231644134 rs775815627	440	M>T		No	ClinGen Ensembl
CA6390608 rs143403049	441	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs753397010 CA6390609	443	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1313302931 CA383389478	444	Q>*		No	ClinGen gnomAD
rs1212681365 CA383389485	444	Q>H		No	ClinGen gnomAD
CA383389499 rs1250039255	445	K>N		No	ClinGen gnomAD
rs148344428 CA6390610	446	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA383389536 rs766636474	448	T>K		No	ClinGen ExAC TOPMed gnomAD
CA6390611 rs766636474	448	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1042233 CA231644157	448	T>P		No	ClinGen Ensembl
rs766636474 CA6390612	448	T>R		No	ClinGen ExAC TOPMed gnomAD
CA383389551 rs1192478946	449	A>V		No	ClinGen gnomAD
rs1434904001 CA383389559	450	G>E		No	ClinGen gnomAD
CA383389553 rs1425699309	450	G>R		No	ClinGen gnomAD
CA6390614 rs370195165	451	S>N		No	ClinGen ESP ExAC gnomAD
rs1257155599 CA383389577	451	S>R		No	ClinGen TOPMed
CA383389596 rs1318737535	453	S>P		No	ClinGen gnomAD
rs1803817 RCV000968244 CA6390616	454	Q>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6390615 rs748176535	454	Q>R		No	ClinGen ExAC
rs1603481797 CA383389623	455	V>G		No	ClinGen Ensembl
rs937421633 CA231644192 CA383389617	455	V>L		No	ClinGen TOPMed gnomAD
rs986229474 CA231644205	458	E>D		No	ClinGen TOPMed
rs749459821 CA6390618	458	E>K		No	ClinGen ExAC gnomAD
rs749459821 CA6390619	458	E>Q		No	ClinGen ExAC gnomAD
rs1438723165 CA383389687	459	A>T		No	ClinGen gnomAD
rs867415332 CA231644208	460	A>Q		No	ClinGen TOPMed gnomAD
CA383389717 rs1428245650	460	A>W		No	ClinGen gnomAD
rs773954350 CA383389724	460	A>Y		No	ClinGen ExAC gnomAD

No associated diseases with Q02790

6 regional properties for Q02790

Type	Name	Position	InterPro Accession
repeat	Kinesin light chain repeat	359 - 400	IPR015792
repeat	Tetratricopeptide repeat	250 - 283	IPR019734-1
repeat	Tetratricopeptide repeat	292 - 325	IPR019734-2
repeat	Tetratricopeptide repeat	334 - 367	IPR019734-3
repeat	Tetratricopeptide repeat	376 - 409	IPR019734-4
repeat	Tetratricopeptide repeat	461 - 494	IPR019734-5

Functions

		Description
EC Number	5.2.1.8	Cis-trans isomerases
Subcellular Localization	Cytoplasm, cytosol Mitochondrion Nucleus Cytoplasm, cytoskeleton Cell projection, axon	Shuttles from mitochondria to nucleus; co-localizes in mitochondria with the glucocorticoid receptor (PubMed:21730050) Colocalized with MAPT/TAU in the distal part of the primary cortical neurons (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
axonal growth cone	The migrating motile tip of a growing nerve cell axon.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
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.

11 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
copper-dependent protein binding	Binding to a protein or protein complex, in the presence of copper.
FK506 binding	Binding to a 23-membered macrolide lactone FK506.
GTP binding	Binding to GTP, guanosine triphosphate.
heat shock protein binding	Binding to a heat shock protein, a protein synthesized or activated in response to heat shock.
nuclear glucocorticoid receptor binding	Binding to a nuclear glucocorticoid receptor.
peptidyl-prolyl cis-trans isomerase activity	Catalysis of the reaction: peptidyl-proline (omega=180) = peptidyl-proline (omega=0).
phosphoprotein binding	Binding to a phosphorylated protein.
protein-macromolecule adaptor activity	The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
RNA binding	Binding to an RNA molecule or a portion thereof.
tau protein binding	Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS.

13 GO annotations of biological process

Name	Definition
androgen receptor signaling pathway	The series of molecular signals initiated by androgen binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
chaperone-mediated protein folding	The process of inhibiting aggregation and assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure that is dependent on interaction with a chaperone.
copper ion transport	The directed movement of copper (Cu) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
embryo implantation	Attachment of the blastocyst to the uterine lining.
male sex differentiation	The establishment of the sex of a male organism by physical differentiation.
negative regulation of microtubule polymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization.
negative regulation of microtubule polymerization or depolymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization or depolymerization.
negative regulation of neuron projection development	Any process that decreases 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).
prostate gland development	The process whose specific outcome is the progression of the prostate gland over time, from its formation to the mature structure. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein peptidyl-prolyl isomerization	The modification of a protein by cis-trans isomerization of a proline residue.
protein-containing complex localization	A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location.
steroid hormone receptor complex assembly	The aggregation, arrangement and bonding together of a set of components to form a steroid hormone receptor complex, an intracellular receptor that binds steroid hormones. The complex is often a dimer, and forms after the steroid has bound the receptor.

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
Q14318	FKBP8	Peptidyl-prolyl cis-trans isomerase FKBP8	Homo sapiens (Human)	EV
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
MTAEEMKATE	SGAQSAPLPM	EGVDISPKQD	EGVLKVIKRE	GTGTEMPMIG	DRVFVHYTGW
70	80	90	100	110	120
LLDGTKFDSS	LDRKDKFSFD	LGKGEVIKAW	DIAIATMKVG	EVCHITCKPE	YAYGSAGSPP
130	140	150	160	170	180
KIPPNATLVF	EVELFEFKGE	DLTEEEDGGI	IRRIQTRGEG	YAKPNEGAIV	EVALEGYYKD
190	200	210	220	230	240
KLFDQRELRF	EIGEGENLDL	PYGLERAIQR	MEKGEHSIVY	LKPSYAFGSV	GKEKFQIPPN
250	260	270	280	290	300
AELKYELHLK	SFEKAKESWE	MNSEEKLEQS	TIVKERGTVY	FKEGKYKQAL	LQYKKIVSWL
310	320	330	340	350	360
EYESSFSNEE	AQKAQALRLA	SHLNLAMCHL	KLQAFSAAIE	SCNKALELDS	NNEKGLFRRG
370	380	390	400	410	420
EAHLAVNDFE	LARADFQKVL	QLYPNNKAAK	TQLAVCQQRI	RRQLAREKKL	YANMFERLAE
430	440	450
EENKAKAEAS	SGDHPTDTEM	KEEQKSNTAG	SQSQVETEA