FKBP1A - FKBP prolyl isomerase 1A Gene

Homo sapiens

Also known as FKBP1; PKC12; PKCI2; FKBP12; PPIASE; FKBP-12; FKBP-1A

Gene ID: 2280 | Gene type: protein coding

About FKBP1A

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:1,368,978-1,393,054 (from NCBI)

This gene has 19 transcripts (splice variants), 165 orthologues and 18 paralogues. Ubiquitous expression in placenta (RPKM 88.0), thyroid (RPKM 87.6) 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. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta Receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]

FKBP1A Products(3)

mRNA	Protein	Name
NM_000801.5	NP_000792.1	peptidyl-prolyl cis-trans isomerase FKBP1A isoform a
NM_001199786.2	NP_001186715.1	peptidyl-prolyl cis-trans isomerase FKBP1A isoform b
NM_054014.4	NP_463460.1	peptidyl-prolyl cis-trans isomerase FKBP1A isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables FK506 binding	IDA IDA: Inferred from direct assay	7592869	GOA
enables I-SMAD binding	IPI IPI: Inferred from physical interaction	16720724	GOA
enables activin receptor binding	IPI IPI: Inferred from physical interaction	16720724	GOA
enables channel regulator activity	IDA IDA: Inferred from direct assay	7592869	GOA
enables peptidyl-prolyl cis-trans isomerase activity	IDA IDA: Inferred from direct assay	1696686	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9857007	GOA
enables signaling receptor inhibitor activity	IDA IDA: Inferred from direct assay	16720724	GOA
enables type I transforming growth factor beta receptor binding	IPI IPI: Inferred from physical interaction	11583628	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amyloid fibril formation	IDA IDA: Inferred from direct assay	18346205	GOA
involved in negative regulation of activin receptor signaling pathway	IDA IDA: Inferred from direct assay	16720724	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	11583628	GOA
involved in positive regulation of protein binding	IDA IDA: Inferred from direct assay	18346205	GOA
involved in protein peptidyl-prolyl isomerization	IDA IDA: Inferred from direct assay	1696686	GOA
involved in regulation of amyloid precursor protein catabolic process	IGI IGI: Inferred from genetic interaction	24499793	GOA
involved in regulation of immune response	IMP IMP: Inferred from mutant phenotype	2477715	GOA
involved in regulation of protein localization	IGI IGI: Inferred from genetic interaction	24499793	GOA
involved in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IDA IDA: Inferred from direct assay	7592869	GOA
involved in supramolecular fiber organization	IDA IDA: Inferred from direct assay	18346205	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Z disc	IDA IDA: Inferred from direct assay	20431056	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12443530	GOA
located in cytosol	IDA IDA: Inferred from direct assay	1701173	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

FKBP1A Protein Structure

FKBP_C

0
100
108 a.a.

Protein Preferred Names

Protein Names

peptidyl-prolyl cis-trans isomerase FKBP1A

12 kDa FK506-binding protein

FKBP1A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FKBP1A	P62942	RYR2	Homo sapiens	Q92736	Competition Binding	11237759
Intra	FKBP1A	P62942	ACVR1B	Homo sapiens	P36896	Pull Down	16720724
Cross	FKBP1A	P62942	P0C6X7-PRO_0000037309	Human SARS coronavirus	P0C6X7-PRO_0000037309	Lumier	22046132
Cross	FKBP1A	P62942	P0C6X7-PRO_0000037309	Human SARS coronavirus	P0C6X7-PRO_0000037309	Y2H Pooling	22046132
Cross	FKBP1A	P62942	P0C6X7-PRO_0000037312	Human SARS coronavirus	P0C6X7-PRO_0000037312	Y2H Pooling	22046132
Intra	FKBP1A	P62942	MTOR	Homo sapiens	P42345	PLA	22664266
Intra	FKBP1A	P62942	MTOR	Homo sapiens	P42345	Beta Galactosidase	17148612
Intra	FKBP1A	P62942	SMAD7	Homo sapiens	O15105	Y2H	16720724
Intra	FKBP1A	P62942	SMAD7	Homo sapiens	O15105	Anti Tag CoIP	16720724
Intra	FKBP1A	P62942	AHSP	Homo sapiens	Q9NZD4	Y2H Prey Pooling	25416956
Intra	FKBP1A	P62942	AHSP	Homo sapiens	Q9NZD4	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FKBP1A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76345	FKBP12 Protein, Human (His)	P62942/NP_463460.1 (M1-E108)	≥95%

Related Diseases

Diseases

Alias

Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva	Progressive Myositis Ossificans
FOP	Progressive Ossifying Myositis
Myositis Ossificans	Stone Man Syndrome
Man Of Stone	Myositis Ossificans Progressive
Diffuse Progressive Ossifying Polymyositis	Fibrodysplasia Ossificans Congenita
Myositis Ossificans Progressiva, Site Unspecified	Münchmeyer Disease
Fop - [Fibrodysplasia Ossificans Progressiva]	Progressive Myositis Ossificans Calcification

Subependymal Glioma

Mixed Subependymoma-Ependymoma	Subependymal Astrocytoma
Who Grade I Ependymal Tumor	Glioma, Subependymal

Exudative Vitreoretinopathy 6

EVR6	Vitreoretinopathy, Exudative 6
Vitreoretinopathy, Exudative, Type 6

Benign Ependymoma

Ependymoma	Epithelial Ependymoma
Who Grade Ii Ependymal Tumor	Myxopapillary Ependymoma

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Chronic Follicular Conjunctivitis

Subependymal Giant Cell Astrocytoma

Sega	Astrocytoma Subependymal Giant Cell
Subependymal Giant-Cell Astrocytoma

Corneal Neovascularization

Corneal Neovascularisation	Corneal Vascularisation
Extensive Superficial Corneal Vascularisation

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

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

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

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

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

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction 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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04960	FKBP1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FKBP1A	RGD	RGD:2617
Mus musculus	FKBP1A	MGD	MGI:95541
Others	FKBP1A	NCBI

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