FKBP1A - FKBP prolyl isomerase 1A Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2280

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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.	상품명	Accession	Purity
HY-P76345	FKBP12 Protein, Human (His, solution)	P62942/NP_463460.1 (M1-E108)	≥ 95%, as determined by reducing SDS-PAGE.

FKBP1A Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P80400	FKBP12 Antibody (YA434)	WB	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS04960	FKBP1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18309	Fkbp1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24787	Fkbp1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

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