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-... See more...

Aliases for FKBP1A Gene

Aliases for FKBP1A Gene

  • FKBP Prolyl Isomerase 1A 2 3 5
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP1A 3 4
  • FK506 Binding Protein 1A, 12kDa 2 3
  • 12 KDa FK506-Binding Protein 3 4
  • FK506-Binding Protein 1A 3 4
  • Immunophilin FKBP12 3 4
  • PPIase FKBP1A 3 4
  • Calstabin-1 3 4
  • 12 KDa FKBP 3 4
  • EC 5.2.1.8 4 52
  • Rotamase 3 4
  • FKBP-12 3 4
  • FKBP-1A 3 4
  • FKBP12 3 4
  • FKBP1 3 4
  • FK506-Binding Protein, T-Cell, 12-KD 3
  • FK506-Binding Protein 1A (12kD) 2
  • Protein Kinase C Inhibitor 2 3
  • FK506-Binding Protein 12 3
  • FK506 Binding Protein 1A 2
  • FK506 Binding Protein12 3
  • FK506-Binding Protein 1 3
  • FKBP12-Exip3 3
  • Calstabin 1 2
  • PPIASE 3
  • PKC12 3
  • PKCI2 3

External Ids for FKBP1A Gene

Previous HGNC Symbols for FKBP1A Gene

  • FKBP1

Previous GeneCards Identifiers for FKBP1A Gene

  • GC20M001337
  • GC20M001344
  • GC20M001297
  • GC20M001349

Summaries for FKBP1A Gene

Entrez Gene Summary for FKBP1A Gene

  • 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]

GeneCards Summary for FKBP1A Gene

FKBP1A (FKBP Prolyl Isomerase 1A) is a Protein Coding gene. Diseases associated with FKBP1A include Fibrodysplasia Ossificans Progressiva and Subependymal Glioma. Among its related pathways are TGF-beta receptor signaling activates SMADs and Development_TGF-beta receptor signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and obsolete signal transducer activity. An important paralog of this gene is FKBP1C.

UniProtKB/Swiss-Prot Summary for FKBP1A Gene

  • Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.

Tocris Summary for FKBP1A Gene

  • Protein Ser/Thr phosphatases are a group of enzymes that catalyze the removal of phosphate groups from serine and/or threonine residues by hydrolysis of phosphoric acid monoesters. They oppose the action of kinases and phosphorylases and are involved in signal transduction.

Gene Wiki entry for FKBP1A Gene

Additional gene information for FKBP1A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FKBP1A Gene

Genomics for FKBP1A Gene

GeneHancer (GH) Regulatory Elements for FKBP1A Gene

Promoters and enhancers for FKBP1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FKBP1A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FKBP1A

Top Transcription factor binding sites by QIAGEN in the FKBP1A gene promoter:
  • aMEF-2
  • E47
  • HSF2
  • MEF-2
  • MEF-2A
  • p300
  • POU2F1
  • POU2F1a
  • RFX1
  • Sp1

Genomic Locations for FKBP1A Gene

Genomic Locations for FKBP1A Gene
chr20:1,368,977-1,393,172
(GRCh38/hg38)
Size:
24,196 bases
Orientation:
Minus strand
chr20:1,349,621-1,373,816
(GRCh37/hg19)
Size:
24,196 bases
Orientation:
Minus strand

Genomic View for FKBP1A Gene

Genes around FKBP1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKBP1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKBP1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKBP1A Gene

Proteins for FKBP1A Gene

  • Protein details for FKBP1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62942-FKB1A_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase FKBP1A
    Protein Accession:
    P62942
    Secondary Accessions:
    • D3DVW6
    • P20071
    • Q4VC47
    • Q6FGD9
    • Q6LEU3
    • Q9H103
    • Q9H566

    Protein attributes for FKBP1A Gene

    Size:
    108 amino acids
    Molecular mass:
    11951 Da
    Quaternary structure:
    • Interacts with TGFBR1; prevents TGFBR1 phosphorylation by TGFBR2 and stabilizes it in the inactive conformation (PubMed:9233797). Interacts with ACVR1B and SMAD7 (PubMed:16720724). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1) (By similarity). Interacts directly with RYR2 and RYR3 (PubMed:10358090, PubMed:22100703). Interacts with GLMN; rapamycin and FK506 abolish the interaction with GLMN in a dose dependent manner (PubMed:8955134). Interacts directly with RYR1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for FKBP1A Gene

neXtProt entry for FKBP1A Gene

Selected DME Specific Peptides for FKBP1A Gene

P62942:
  • EVIRGWEEGVAQMSVGQRA
  • GDGRTFPK
  • GKKFDSS
  • AYGATGHPG
  • KFDSSRDR

Post-translational modifications for FKBP1A Gene

  • Ubiquitination at Lys48 and Lys53
  • Modification sites at PhosphoSitePlus

Domains & Families for FKBP1A Gene

Gene Families for FKBP1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for FKBP1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FKBP1A Gene

GenScript: Design optimal peptide antigens:
  • Rotamase (FKB1A_HUMAN)
  • FKBP1A protein (Q0VDC5_HUMAN)
  • FKBP1A protein (Q0VDC6_HUMAN)
  • FK506 binding protein12 (Q1JUQ4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62942

UniProtKB/Swiss-Prot:

FKB1A_HUMAN :
  • Belongs to the FKBP-type PPIase family. FKBP1 subfamily.
Family:
  • Belongs to the FKBP-type PPIase family. FKBP1 subfamily.
genes like me logo Genes that share domains with FKBP1A: view

Function for FKBP1A Gene

Molecular function for FKBP1A Gene

UniProtKB/Swiss-Prot Function:
Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA-COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence={ECO:0000269 PubMed:1696686, ECO:0000269 PubMed:1701173};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by both FK506 and rapamycin.
GENATLAS Biochemistry:
FK506-binding protein 1A,T cell binding protein FKBP-12 for the immunosuppressive agents FK506-rapamycin ,with intrinsic peptidyl-prolyl cis-trans isomerase activity

Enzyme Numbers (IUBMB) for FKBP1A Gene

Phenotypes From GWAS Catalog for FKBP1A Gene

Gene Ontology (GO) - Molecular Function for FKBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity TAS,IEA 11322937
GO:0005160 transforming growth factor beta receptor binding TAS 11322937
GO:0005515 protein binding IPI 9857007
GO:0005527 macrolide binding NAS 17962721
GO:0005528 FK506 binding NAS 17962721
genes like me logo Genes that share ontologies with FKBP1A: view
genes like me logo Genes that share phenotypes with FKBP1A: view

Animal Models for FKBP1A Gene

MGI Knock Outs for FKBP1A:

Animal Model Products

CRISPR Products

miRNA for FKBP1A Gene

miRTarBase miRNAs that target FKBP1A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP1A

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FKBP1A Gene

Localization for FKBP1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKBP1A Gene

Cytoplasm, cytosol. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FKBP1A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 5
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FKBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 12443530
GO:0005829 cytosol TAS,IDA --
GO:0014802 terminal cisterna ISS 1374404
GO:0016020 membrane IEA,IDA 12443530
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FKBP1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FKBP1A Gene

Pathways & Interactions for FKBP1A Gene

genes like me logo Genes that share pathways with FKBP1A: view

Pathways by source for FKBP1A Gene

3 GeneGo (Thomson Reuters) pathways for FKBP1A Gene
  • Development_TGF-beta receptor signaling
  • Signal transduction Activin A signaling regulation
  • Signal transduction Calcium signaling
1 Qiagen pathway for FKBP1A Gene
  • mTOR Pathway

SIGNOR curated interactions for FKBP1A Gene

Inactivates:

Gene Ontology (GO) - Biological Process for FKBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000413 protein peptidyl-prolyl isomerization IDA 1696686
GO:0003007 heart morphogenesis ISS --
GO:0006457 protein folding NAS 1930186
GO:0006458 'de novo' protein folding TAS 11322937
GO:0007183 SMAD protein complex assembly IDA 16720724
genes like me logo Genes that share ontologies with FKBP1A: view

Drugs & Compounds for FKBP1A Gene

(37) Drugs for FKBP1A Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma Target, inhibitor 1285
Pimecrolimus Approved, Investigational Pharma Target, potentiator, inhibitor 66
Sirolimus Approved, Investigational Pharma Target, other, inhibitor Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 2191
Everolimus Approved Pharma inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1952
Cyclosporin A Approved, Investigational, Vet_approved Pharma Antagonist, Inhibition, Inhibitor Immunosuppressive agent, Immunosuppressant drug, Calcineurin inhibitor 0

(12) Additional Compounds for FKBP1A Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FK 506
104987-11-3

(4) Tocris Compounds for FKBP1A Gene

Compound Action Cas Number
Calcineurin Autoinhibitory Peptide Selective calcineurin inhibitor 148067-21-4
Cyclosporin A Calcineurin inhibitor 59865-13-3
FK 506 Potent calcineurin inhibitor; immunosuppressant 104987-11-3
INCA-6 Inhibitor of calcineurin-substrate association 3519-82-2

(1) ApexBio Compounds for FKBP1A Gene

Compound Action Cas Number
Zotarolimus(ABT-578) 221877-54-9
genes like me logo Genes that share compounds with FKBP1A: view

Drug Products

Transcripts for FKBP1A Gene

mRNA/cDNA for FKBP1A Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP1A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FKBP1A Gene

No ASD Table

Relevant External Links for FKBP1A Gene

GeneLoc Exon Structure for
FKBP1A

Expression for FKBP1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FKBP1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FKBP1A Gene

This gene is overexpressed in Oral epithelium (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FKBP1A Gene



Protein tissue co-expression partners for FKBP1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FKBP1A

SOURCE GeneReport for Unigene cluster for FKBP1A Gene:

Hs.471933

Evidence on tissue expression from TISSUES for FKBP1A Gene

  • Lung(4.8)
  • Nervous system(4.7)
  • Blood(4.5)
  • Skin(4)
  • Muscle(3.1)
  • Pancreas(2.9)
  • Eye(2.8)
  • Heart(2.7)
  • Intestine(2.7)
  • Kidney(2.5)
  • Adrenal gland(2.2)
  • Liver(2.2)
  • Spleen(2.2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with FKBP1A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FKBP1A Gene

Orthologs for FKBP1A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FKBP1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKBP1A 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 98 (a)
OneToMany
FKBP1A 30
  • 95.37 (n)
cow
(Bos Taurus)
Mammalia FKBP1A 30
  • 94.14 (n)
-- 31
  • 89 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 94 (a)
ManyToMany
-- 31
  • 77 (a)
ManyToMany
-- 31
  • 77 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Fkbp1a 17 31 30
  • 93.21 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp1a 30
  • 91.98 (n)
chicken
(Gallus gallus)
Aves FKBP12 31
  • 91 (a)
OneToMany
FKBP1A 30
  • 83.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 89 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii fkbp1ab 31 30
  • 72.22 (n)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta FK506-bp2 31 32
  • 76 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fkb-2 32
  • 60 (a)
fkb-8 31
  • 16 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR1 33 31
  • 54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3865 31
  • 73 (a)
OneToMany
Species where no ortholog for FKBP1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FKBP1A Gene

ENSEMBL:
Gene Tree for FKBP1A (if available)
TreeFam:
Gene Tree for FKBP1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FKBP1A: view image

Paralogs for FKBP1A Gene

(16) SIMAP similar genes for FKBP1A Gene using alignment to 4 proteins:

  • FKB1A_HUMAN
  • Q0VDC5_HUMAN
  • Q0VDC6_HUMAN
  • Q5W0X3_HUMAN

Pseudogenes.org Pseudogenes for FKBP1A Gene

genes like me logo Genes that share paralogs with FKBP1A: view

Variants for FKBP1A Gene

Additional dbSNP identifiers (rs#s) for FKBP1A Gene

Structural Variations from Database of Genomic Variants (DGV) for FKBP1A Gene

Variant ID Type Subtype PubMed ID
nsv522008 CNV gain 19592680
nsv979410 CNV duplication 23825009

Variation tolerance for FKBP1A Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FKBP1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKBP1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FKBP1A Gene

Disorders for FKBP1A Gene

MalaCards: The human disease database

(10) MalaCards diseases for FKBP1A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fibrodysplasia ossificans progressiva
  • fop
subependymal glioma
  • mixed subependymoma-ependymoma
left ventricular noncompaction
  • left ventricular hypertrabeculation
crouzon syndrome with acanthosis nigricans
  • can
tuberous sclerosis
  • tuberous sclerosis 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FKBP1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FKBP1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FKBP1A Gene

Publications for FKBP1A Gene

  1. FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type I receptor. (PMID: 16720724) Yamaguchi T … Sugino H (Journal of molecular endocrinology 2006) 3 4 23 54
  2. FAP48, a new protein that forms specific complexes with both immunophilins FKBP59 and FKBP12. Prevention by the immunosuppressant drugs FK506 and rapamycin. (PMID: 8955134) Chambraud B … Baulieu EE (The Journal of biological chemistry 1996) 3 4 23 54
  3. Three distinct messenger RNAs can encode the human immunosuppressant-binding protein FKBP12. (PMID: 7529739) Peattie DA … Lippke JA (Gene 1994) 3 4 23 54
  4. Solution structure of FK506 bound to FKBP-12. (PMID: 1375171) Lepre CA … Moore JM (FEBS letters 1992) 3 4 23 54
  5. Chromosomal assignment of the human immunophilin FKBP-12 gene. (PMID: 1930186) DiLella AG (Biochemical and biophysical research communications 1991) 2 3 23 54

Products for FKBP1A Gene

Sources for FKBP1A Gene