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Aliases for FKBP1A Gene

Aliases for FKBP1A Gene

  • FK506 Binding Protein 1A 2 3 5
  • FK506-Binding Protein 1A (12kD) 2 3
  • FK506 Binding Protein 1A, 12kDa 2 3
  • 12 KDa FK506-Binding Protein 3 4
  • Immunophilin FKBP12 3 4
  • PPIase FKBP1A 3 4
  • Calstabin 1 2 3
  • 12 KDa FKBP 3 4
  • Calstabin-1 3 4
  • EC 5.2.1.8 4 63
  • 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
  • Protein Kinase C Inhibitor 2 3
  • FK506-Binding Protein 12 3
  • FK506-Binding Protein 1A 4
  • FK506 Binding Protein12 3
  • FK506-Binding Protein 1 3
  • FKBP12-Exip3 3
  • 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

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 (FK506 Binding Protein 1A) is a Protein Coding gene. Diseases associated with FKBP1A include left ventricular noncompaction and central core disease. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. An important paralog of this gene is FKBP4.

UniProtKB/Swiss-Prot 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. Recruites 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKBP1A Gene

Genomics for FKBP1A Gene

Regulatory Elements for FKBP1A Gene

Promoters for FKBP1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FKBP1A on UCSC Golden Path with GeneCards custom track

Genomic Location for FKBP1A Gene

Chromosome:
20
Start:
1,368,977 bp from pter
End:
1,393,172 bp from pter
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 directly with RYR1, RYR2 and RYR3. Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1) (By similarity). Interacts with TGFBR1; prevents TGFBR1 phosphorylation by TGFBR2 and stabilizes it in the inactive conformation. Interacts with ACVR1B and SMAD7.

    Three dimensional structures from OCA and Proteopedia for FKBP1A Gene

neXtProt entry for FKBP1A Gene

Proteomics data for FKBP1A Gene at MOPED

Selected DME Specific Peptides for FKBP1A Gene

Post-translational modifications for FKBP1A Gene

  • Ubiquitination at Lys 48
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for FKBP1A Gene

Gene Families for FKBP1A Gene

Protein Domains for FKBP1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FKBP1A Gene

Graphical View of Domain Structure for InterPro Entry

P62942

UniProtKB/Swiss-Prot:

FKB1A_HUMAN :
  • Contains 1 PPIase FKBP-type domain.
  • Belongs to the FKBP-type PPIase family. FKBP1 subfamily.
Domain:
  • Contains 1 PPIase FKBP-type domain.
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

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
UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by both FK506 and rapamycin.
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. Recruites 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.

Enzyme Numbers (IUBMB) for FKBP1A Gene

Gene Ontology (GO) - Molecular Function for FKBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005527 macrolide binding NAS 17962721
GO:0034713 type I transforming growth factor beta receptor binding ISS 7518616
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

miRNA for FKBP1A Gene

miRTarBase miRNAs that target FKBP1A

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FKBP1A Gene COMPARTMENTS Subcellular localization image for FKBP1A gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
extracellular 5
nucleus 2
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FKBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12443530
genes like me logo Genes that share ontologies with FKBP1A: view

Pathways & Interactions for FKBP1A Gene

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

SIGNOR curated interactions for FKBP1A Gene

Inactivates:

Gene Ontology (GO) - Biological Process for FKBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007183 SMAD protein complex assembly IDA 16720724
GO:0022417 protein maturation by protein folding TAS 11322937
GO:0031398 positive regulation of protein ubiquitination IDA 16720724
GO:0032092 positive regulation of protein binding IDA 18346205
GO:0032880 regulation of protein localization IGI 24499793
genes like me logo Genes that share ontologies with FKBP1A: view

Drugs & Compounds for FKBP1A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma inhibitor, Target 1023
Pimecrolimus Approved, Investigational Pharma inhibitor, Target, potentiator 60
Sirolimus Approved, Investigational Pharma inhibitor, Target, other Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1797
Everolimus Approved Pharma inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1797
(21S)-1AZA-4,4-DIMETHYL-6,19-DIOXA-2,3,7,20-TETRAOXOBICYCLO[19.4.0] PENTACOSANE Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ceramide
3102-57-6
DL-AP3
20263-06-3
genes like me logo Genes that share compounds with FKBP1A: view

Drug Products

Transcripts for FKBP1A Gene

Unigene Clusters for FKBP1A Gene

FK506 binding protein 1A, 12kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
FKBP1A

Expression for FKBP1A Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for FKBP1A Gene



SOURCE GeneReport for Unigene cluster for FKBP1A Gene Hs.471933

genes like me logo Genes that share expression patterns with FKBP1A: view

Protein tissue co-expression partners for FKBP1A Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (n)
  • 100 (a)
FKBP1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 89 (a)
ManyToMany
FKBP1A 35
  • 94.14 (n)
  • 97.22 (a)
dog
(Canis familiaris)
Mammalia FKBP1A 35
  • 95.37 (n)
  • 99.07 (a)
-- 36
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fkbp1a 16
Fkbp1a 35
  • 93.21 (n)
  • 97.22 (a)
Fkbp1a 36
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 94 (a)
ManyToMany
-- 36
  • 77 (a)
ManyToMany
-- 36
  • 77 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Fkbp1a 35
  • 91.98 (n)
  • 97.22 (a)
chicken
(Gallus gallus)
Aves FKBP12 36
  • 91 (a)
OneToMany
FKBP1A 35
  • 83.64 (n)
  • 91.67 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 89 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii fkbp1ab 36
  • 81 (a)
ManyToMany
fkbp1ab 35
  • 72.22 (n)
  • 82.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta FK506-bp2 37
  • 75 (a)
FK506-bp2 36
  • 76 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fkb-8 36
  • 16 (a)
ManyToMany
fkb-2 37
  • 60 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR1 36
  • 54 (a)
OneToMany
FPR1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3865 36
  • 73 (a)
OneToMany
Species with no ortholog for FKBP1A:
  • 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)

Paralogs for FKBP1A Gene

Paralogs for FKBP1A Gene

Pseudogenes.org Pseudogenes for FKBP1A Gene

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

Variants for FKBP1A Gene

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

Variant ID Type Subtype PubMed ID
nsv522008 CNV Gain 19592680

Variation tolerance for FKBP1A Gene

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

Relevant External Links for FKBP1A Gene

HapMap Linkage Disequilibrium report
FKBP1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for FKBP1A Gene

Disorders for FKBP1A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
left ventricular noncompaction
  • left ventricular hypertrabeculation
central core disease
  • neuromuscular disease, congenital, with uniform type 1 fiber
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FKBP1A

Genetic Association Database (GAD)
FKBP1A
Human Genome Epidemiology (HuGE) Navigator
FKBP1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FKBP1A
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. (J. Mol. Endocrinol. 2006) 3 4 23 67
  2. An assay for the determination of sirolimus levels in the lymphocyte of transplant patients. (PMID: 17524933) Masri M. … Rost M. (Transplant. Proc. 2007) 23 25 26
  3. Chromosomal assignment of the human immunophilin FKBP-12 gene. (PMID: 1930186) DiLella A.G. (Biochem. Biophys. Res. Commun. 1991) 2 3 23
  4. A peptidyl-prolyl isomerase, FKBP12, accumulates in Alzheimer neurofibrillary tangles. (PMID: 19414059) Sugata H. … Kawamata T. (Neurosci. Lett. 2009) 3 23
  5. Neointimal expression of rapamycin receptor FK506-binding protein FKBP12: postinjury animal and human in-stent restenosis tissue characteristics. (PMID: 17962721) Bauriedel G. … Skowasch D. (J. Vasc. Res. 2008) 3 23

Products for FKBP1A Gene

Sources for FKBP1A Gene

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