Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2281
Gene name	FKBP prolyl isomerase 1B
Gene symbol	FKBP1B
Synonyms (NCBI Gene)	FKBP12.6FKBP1LOTK4PKBP1LPPIase
Chromosome	2
Chromosome location	2p23.3
Summary	The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019735	hsa-miR-375	Microarray	20215506
MIRT028949	hsa-miR-26b-5p	Sequencing	20371350
MIRT030378	hsa-miR-24-3p	Sequencing	20371350
MIRT997381	hsa-miR-149	CLIP-seq
MIRT997382	hsa-miR-2114	CLIP-seq
MIRT997383	hsa-miR-24	CLIP-seq
MIRT997384	hsa-miR-4284	CLIP-seq
MIRT997385	hsa-miR-582-3p	CLIP-seq
MIRT997386	hsa-miR-642a	CLIP-seq
MIRT997387	hsa-miR-892b	CLIP-seq
MIRT2533639	hsa-miR-1225-3p	CLIP-seq
MIRT2533640	hsa-miR-1255a	CLIP-seq
MIRT2533641	hsa-miR-1255b	CLIP-seq
MIRT2533642	hsa-miR-1294	CLIP-seq
MIRT2533643	hsa-miR-1322	CLIP-seq
MIRT2533644	hsa-miR-1827	CLIP-seq
MIRT2533645	hsa-miR-2682	CLIP-seq
MIRT2533646	hsa-miR-3123	CLIP-seq
MIRT2533647	hsa-miR-335	CLIP-seq
MIRT2533648	hsa-miR-34a	CLIP-seq
MIRT2533649	hsa-miR-34c-5p	CLIP-seq
MIRT2533650	hsa-miR-4323	CLIP-seq
MIRT2533651	hsa-miR-449a	CLIP-seq
MIRT2533652	hsa-miR-449b	CLIP-seq
MIRT2533653	hsa-miR-449c	CLIP-seq
MIRT2533654	hsa-miR-4659a-5p	CLIP-seq
MIRT2533655	hsa-miR-4659b-5p	CLIP-seq
MIRT2533656	hsa-miR-4722-5p	CLIP-seq
MIRT2533657	hsa-miR-4789-3p	CLIP-seq
MIRT2533658	hsa-miR-4797-5p	CLIP-seq
MIRT2533659	hsa-miR-635	CLIP-seq
MIRT2533660	hsa-miR-891b	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IBA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IDA	7513996, 7592869
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0005102	Function	Signaling receptor binding	IPI	10830164, 17921453
GO:0005246	Function	Calcium channel regulator activity	IMP	7592869
GO:0005515	Function	Protein binding	IPI	7592869, 10830164, 11237759, 23233753, 25416956, 25470061, 32296183
GO:0005528	Function	FK506 binding	IDA	7592869
GO:0005528	Function	FK506 binding	IEA
GO:0005737	Component	Cytoplasm	IDA	12443530
GO:0005737	Component	Cytoplasm	IEA
GO:0006457	Process	Protein folding	IBA
GO:0006458	Process	'de novo' protein folding	TAS	11322937
GO:0006939	Process	Smooth muscle contraction	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0010459	Process	Negative regulation of heart rate	IEA
GO:0010459	Process	Negative regulation of heart rate	ISS
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA	20431056
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA	7592869, 20431056
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	22087651
GO:0016020	Component	Membrane	IDA	12443530
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019722	Process	Calcium-mediated signaling	IGI	22087651
GO:0019855	Function	Calcium channel inhibitor activity	IDA	12443530, 20431056
GO:0030018	Component	Z disc	IDA	20431056
GO:0030073	Process	Insulin secretion	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0034704	Component	Calcium channel complex	IDA	10830164
GO:0034704	Component	Calcium channel complex	IEA
GO:0035773	Process	Insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0042026	Process	Protein refolding	TAS	11322937
GO:0042098	Process	T cell proliferation	IEA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0050849	Process	Negative regulation of calcium-mediated signaling	IDA	12443530, 20431056
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051280	Process	Negative regulation of release of sequestered calcium ion into cytosol	IDA	12443530
GO:0051284	Process	Positive regulation of sequestering of calcium ion	IDA	12443530
GO:0051604	Process	Protein maturation	TAS	11322937
GO:0051775	Process	Response to redox state	IDA	19226252
GO:0060314	Process	Regulation of ryanodine-sensitive calcium-release channel activity	IBA
GO:0061179	Process	Negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA

MIM	HGNC	e!Ensembl
600620	3712	ENSG00000119782

P68106

Protein name

Peptidyl-prolyl cis-trans isomerase FKBP1B (PPIase FKBP1B) (EC 5.2.1.8) (12.6 kDa FK506-binding protein) (12.6 kDa FKBP) (FKBP-12.6) (FK506-binding protein 1B) (FKBP-1B) (Immunophilin FKBP12.6) (Rotamase) (h-FKBP-12)

Protein function

Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. {ECO:000026

PDB

1C9H , 4C02 , 4IQ2 , 4IQC , 5HKG , 5L1D , 5T15 , 5T9M , 5T9N , 5T9R , 5T9S , 5T9V , 5TA3 , 5TAL , 5TAM , 5TAN , 5TAP , 5TAQ , 5TAS , 5TAT , 5TAU , 5TAV , 5TAW , 5TAX , 5TAY , 5TAZ , 5TB0 , 5TB1 , 5TB2 , 5TB3 , 5TB4 , 6JGZ , 6JH6 , 6JHN , 6JI0 , 6JI8 , 6JII , 6JIU , 6JIY , 6JRR , 6JRS , 6M2W , 6PV6 , 6W1N , 6WOT , 6WOU , 6WOV , 6X32 , 6X33 , 6X34 , 6X35

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00254	FKBP_C	13 → 105	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in heart muscle (at protein level). Isoform 1 and isoform 2 are ubiquitous with highest levels in brain and thymus. {ECO:0000269|PubMed:10830164}.

Sequence

MGVEIETISPGDGRTFPKKGQTCVVHYTGMLQNGKKFDSSRDRNKPFKFRIGKQEVIKGF
EEGAAQMSLGQRAKLTCTPDVAYGATGHPGVIPPNATLIFDVELLNLE

Sequence length

108

Interactions

View interactions

	Reactome
			Stimuli-sensing channels Ion homeostasis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GRAVES DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	38417436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	10077670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15497458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33787596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12162492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	14616768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40593136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	15497458	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto disease	Pubtator	15497458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	12162492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	31564830	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34454589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31830361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	21659649, 37740238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	29148176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	16672364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	15497458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	16672364		★★★★★ ★☆☆☆☆ Found in Text Mining only

FKBP1B (FKBP prolyl isomerase 1B)