FKBP1B - FKBP prolyl isomerase 1B Gene

Also Known as OTK4; FKBP1L; PKBP1L; PPIase; FKBP12.6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2281

About FKBP1B

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:24,033,206-24,063,681 (from NCBI)

This gene has 6 transcripts (splice variants), 188 orthologues and 18 paralogues. Ubiquitous expression in duodenum (RPKM 4.2), brain (RPKM 2.6) and 25 other tissues.

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 the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]

FKBP1B Products (4)

mRNA	Protein	Name
NM_001322963.2	NP_001309892.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform c
NM_001322964.2	NP_001309893.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform c
NM_004116.5	NP_004107.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform a
NM_054033.4	NP_473374.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables FK506 binding	IDA IDA: Inferred from direct assay	7592869	GOA
enables calcium channel inhibitor activity	IDA IDA: Inferred from direct assay	12443530	GOA
enables channel regulator activity	IMP IMP: Inferred from mutant phenotype	7592869	GOA
enables peptidyl-prolyl cis-trans isomerase activity	IDA IDA: Inferred from direct assay	7513996	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7592869	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	10830164	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium-mediated signaling	IGI IGI: Inferred from genetic interaction	22087651	GOA
involved in negative regulation of calcium-mediated signaling	IDA IDA: Inferred from direct assay	12443530	GOA
involved in negative regulation of release of sequestered calcium ion into cytosol	IDA IDA: Inferred from direct assay	12443530	GOA
involved in positive regulation of sequestering of calcium ion	IDA IDA: Inferred from direct assay	12443530	GOA
involved in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA IDA: Inferred from direct assay	7592869	GOA
involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	20431056	GOA
involved in response to redox state	IDA IDA: Inferred from direct assay	19226252	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	20431056	GOA
part of calcium channel complex	IDA IDA: Inferred from direct assay	10830164	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12443530	GOA
located in membrane	IDA IDA: Inferred from direct assay	12443530	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FKBP1B Protein Structure

FKBP_C

0
100
108 a.a.

Protein Preferred Names	Protein Names
peptidyl-prolyl cis-trans isomerase FKBP1B	12.6 kDa FK506-binding protein

FKBP1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FKBP1B	P68106	FLJ13057	Homo sapiens	Q53SE7	Validated Y2H	25416956
Intra	FKBP1B	P68106	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	25416956
Intra	FKBP1B	P68106	RYR2	Homo sapiens	Q92736	Y2H	10830164
Intra	FKBP1B	P68106	RYR2	Homo sapiens	Q92736	FRET	23233753
Intra	FKBP1B	P68106	RYR2	Homo sapiens	Q92736	Anti Bait CoIP	10830164
Intra	FKBP1B	P68106	REL	Homo sapiens	Q04864	Y2H Array	25416956
Intra	FKBP1B	P68106	CAMK2D	Homo sapiens	Q13557	Validated Y2H	25416956
Intra	FKBP1B	P68106	CAMK2D	Homo sapiens	Q13557	Y2H Array	25416956
Intra	FKBP1B	P68106	TRIM69	Homo sapiens	Q86WT6	Validated Y2H	25416956
Intra	FKBP1B	P68106	TRIM69	Homo sapiens	Q86WT6	Y2H Prey Pooling	25416956
Intra	FKBP1B	P68106	KRT31	Homo sapiens	Q15323	Y2H Array	25416956
Intra	FKBP1B	P68106	KRT31	Homo sapiens	Q15323	Validated Y2H	25416956
Intra	FKBP1B	P68106	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	Arrhythmogenic Right Ventricular Dysplasia 2 ARVD2 Arrhythmogenic Right Ventricular Cardiomyopathy 2 Arvc2 Familial Arrhythmogenic Right Ventricular Dysplasia 2 Dysplasia, Arrhythmogenic Right Ventricular, Type 2
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Catecholaminergic Polymorphic Ventricular Tachycardia 1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 CPVT1 Ventricular Tachycardia, Stress-Induced Polymorphic Vtsip Bidirectional Tachycardia Stress-Induced Polymorphic Ventricular Tachycardia Cvpt1 Double Tachycardia Induced By Catecholamines Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Paroxysmal Ventricular Fibrillation Syncopal Paroxysmal Tachycardia Syncopal Tachyarythmia Ventricular Tachycardia Catecholaminergic Polymorphic 1 Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1 Multifocal Pvcs Multifocal Premature Ventricular Beats Paroxysmal Familial Ventricular Fibrillation Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Catecholaminergic Polymorphic Ventricular Tachycardia 2 CPVT2 Vtsip Bidirectional Tachycardia Stress-Induced Polymorphic Ventricular Tachycardia Ventricular Tachycardia, Stress-Induced Polymorphic Cvpt2 Double Tachycardia Induced By Catecholamines Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Paroxysmal Ventricular Fibrillation Syncopal Paroxysmal Tachycardia Syncopal Tachyarythmia Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Multifocal Pvcs Multifocal Premature Ventricular Beats Paroxysmal Familial Ventricular Fibrillation
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic Right Ventricular Dysplasia 10 ARVD10 Arrhythmogenic Right Ventricular Cardiomyopathy 10 Arvc10 Familial Arrhythmogenic Right Ventricular Dysplasia 10 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04961	FKBP1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FKBP1B	VGNC	VGNC:106166
Rattus norvegicus	FKBP1B	RGD	RGD:61835
Bos taurus	FKBP1B	VGNC	VGNC:29021
Canis familiaris	FKBP1B	VGNC	VGNC:54305
Mus musculus	FKBP1B	MGD	MGI:1336205
Others	FKBP1B	NCBI