PPIB (peptidylprolyl isomerase B)

Gene

• Entrez ID: 5479
• Gene name: Peptidylprolyl isomerase B
• Gene symbol: PPIB
• Synonyms: CYP-S1, CYPB, HEL-S-39, OI9, SCYLP
• Chromosome: 15
• Chromosome location: 15q22.31
• Summary: The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853864	A>C,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs137853865	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137853866	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs137853867	C>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001347	hsa-miR-1-3p	pSILAC	18668040
MIRT001347	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT049173	hsa-miR-92a-3p	CLASH	23622248
MIRT049173	hsa-miR-92a-3p	CLASH	23622248
MIRT044215	hsa-miR-301a-3p	CLASH	23622248
MIRT513165	hsa-miR-4655-5p	PAR-CLIP	23446348
MIRT513164	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT513163	hsa-miR-3065-3p	PAR-CLIP	23446348
MIRT513162	hsa-miR-6784-5p	PAR-CLIP	23446348
MIRT513160	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT513161	hsa-miR-572	PAR-CLIP	23446348
MIRT513159	hsa-miR-1202	PAR-CLIP	23446348
MIRT513158	hsa-miR-3972	PAR-CLIP	23446348
MIRT001347	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT001347	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT513161	hsa-miR-572	PAR-CLIP	26701625
MIRT513161	hsa-miR-572	PAR-CLIP	26701625
MIRT513165	hsa-miR-4655-5p	PAR-CLIP	23446348
MIRT513164	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT513163	hsa-miR-3065-3p	PAR-CLIP	23446348
MIRT513162	hsa-miR-6784-5p	PAR-CLIP	23446348
MIRT513160	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT513161	hsa-miR-572	PAR-CLIP	23446348
MIRT513159	hsa-miR-1202	PAR-CLIP	23446348
MIRT513158	hsa-miR-3972	PAR-CLIP	23446348
MIRT1252826	hsa-miR-1	CLIP-seq
MIRT1252827	hsa-miR-1301	CLIP-seq
MIRT1252828	hsa-miR-148a	CLIP-seq
MIRT1252829	hsa-miR-148b	CLIP-seq
MIRT1252830	hsa-miR-152	CLIP-seq
MIRT1252831	hsa-miR-1825	CLIP-seq
MIRT1252832	hsa-miR-2964a-5p	CLIP-seq
MIRT1252833	hsa-miR-3184	CLIP-seq
MIRT1252834	hsa-miR-3190	CLIP-seq
MIRT1252835	hsa-miR-3673	CLIP-seq
MIRT1252836	hsa-miR-3918	CLIP-seq
MIRT1252837	hsa-miR-3944-5p	CLIP-seq
MIRT1252838	hsa-miR-4302	CLIP-seq
MIRT1252839	hsa-miR-4512	CLIP-seq
MIRT1252840	hsa-miR-4640-5p	CLIP-seq
MIRT1252841	hsa-miR-4660	CLIP-seq
MIRT1252842	hsa-miR-4697-3p	CLIP-seq
MIRT1252843	hsa-miR-4726-5p	CLIP-seq
MIRT1252844	hsa-miR-4730	CLIP-seq
MIRT1252845	hsa-miR-5047	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq
MIRT2074462	hsa-miR-1233	CLIP-seq
MIRT2074463	hsa-miR-146b-3p	CLIP-seq
MIRT1252836	hsa-miR-3918	CLIP-seq
MIRT1252838	hsa-miR-4302	CLIP-seq
MIRT1252839	hsa-miR-4512	CLIP-seq
MIRT1252842	hsa-miR-4697-3p	CLIP-seq
MIRT1252844	hsa-miR-4730	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq
MIRT1252826	hsa-miR-1	CLIP-seq
MIRT1252833	hsa-miR-3184	CLIP-seq
MIRT1252835	hsa-miR-3673	CLIP-seq
MIRT2598177	hsa-miR-1914	CLIP-seq
MIRT1252832	hsa-miR-2964a-5p	CLIP-seq
MIRT2598178	hsa-miR-339-5p	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq
MIRT2598177	hsa-miR-1914	CLIP-seq
MIRT1252832	hsa-miR-2964a-5p	CLIP-seq
MIRT2598178	hsa-miR-339-5p	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000413	Process	Protein peptidyl-prolyl isomerization	IBA	21873635
GO:0000413	Process	Protein peptidyl-prolyl isomerization	IDA	20676357
GO:0000413	Process	Protein peptidyl-prolyl isomerization	ISS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IBA	21873635
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IDA	20676357
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	ISS
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	NAS	2000394
GO:0005515	Function	Protein binding	IPI	15095401, 15989969, 20147391, 21280149, 21516116, 22665516, 25416956, 30021884, 32296183, 32814053
GO:0005515	Function	Protein binding	ISS
GO:0005518	Function	Collagen binding	ISS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	20089953
GO:0005788	Component	Endoplasmic reticulum lumen	NAS	1530944
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006457	Process	Protein folding	IBA	21873635
GO:0016018	Function	Cyclosporin A binding	IBA	21873635
GO:0016018	Function	Cyclosporin A binding	IDA	20676357
GO:0016020	Component	Membrane	HDA	19946888
GO:0030593	Process	Neutrophil chemotaxis	IDA	11688976
GO:0032991	Component	Protein-containing complex	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	20089953
GO:0042470	Component	Melanosome	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0044794	Process	Positive regulation by host of viral process	IMP	15989969
GO:0044829	Process	Positive regulation by host of viral genome replication	IMP	15989969
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15989969
GO:0050821	Process	Protein stabilization	IMP	20089953
GO:0051082	Function	Unfolded protein binding	TAS	2000394
GO:0060348	Process	Bone development	IMP	20089953
GO:0061077	Process	Chaperone-mediated protein folding	IDA	22665516
GO:0061077	Process	Chaperone-mediated protein folding	IMP	20089953
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0070063	Function	RNA polymerase binding	IPI	15989969
GO:1901873	Process	Regulation of post-translational protein modification	IMP	20089953

Other IDs

• MIM: 123841
• HGNC: 9255
• e!Ensembl: ENSG00000166794

Protein

• UniProt ID: P23284
• Protein name: Peptidyl-prolyl cis-trans isomerase B (PPIase B) (EC 5.2.1.8) (CYP-S1) (Cyclophilin B) (Rotamase B) (S-cyclophilin) (SCYLP)
• Protein function: PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.
• PDB: 1CYN, 3ICH, 3ICI, 8K0F, 8K0I, 8K0M, 8K17, 8KC9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00160	Pro_isomerase	47 → 204	Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD	Domain

• Sequence:

  MLRLSERNMKVLLAAALIAGSVFFLLLPGPSAADEKKKGPKVTVKVYFDLRIGDEDVGRV
  IFGLFGKTVPKTVDNFVALATGEKGFGYKNSKFHRVIKDFMIQGGDFTRGDGTGGKSIYG
  ERFPDENFKLKHYGPGWVSMANAGKDTNGSQFFITTVKTAWLDGKHVVFGKVLEGMEVVR
  KVESTKTDSRDKPLKDVIIADCGKIEVEKPFAIAKE

• Sequence length: 216

Pathways

Reactome:

Collagen biosynthesis and modifying enzymes

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dentinogenesis imperfecta	Dentinogenesis Imperfecta	rs121912985, rs1560477489, rs121912987, rs121912989, rs1560480632, rs67707918, rs66883877
Osteogenesis imperfecta	Osteogenesis imperfecta, dominant perinatal lethal, Osteogenesis imperfecta type III (disorder), Osteogenesis imperfecta type IV (disorder), OSTEOGENESIS IMPERFECTA, TYPE IX (disorder), Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	21438135, 21282188, 19781681, 20089953
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum