Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FKBP1A Gene

Aliases for FKBP1A Gene

  • FK506 Binding Protein 1A 2 3 5
  • FK506 Binding Protein 1A, 12kDa 2 3
  • 12 KDa FK506-Binding Protein 3 4
  • Immunophilin FKBP12 3 4
  • PPIase FKBP1A 3 4
  • 12 KDa FKBP 3 4
  • Calstabin-1 3 4
  • EC 5.2.1.8 4 61
  • Rotamase 3 4
  • FKBP-12 3 4
  • FKBP-1A 3 4
  • FKBP12 3 4
  • FKBP1 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP1A 3
  • 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 4
  • 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

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 Reticulate Acropigmentation Of Kitamura. Among its related pathways are TGF-beta receptor signaling activates SMADs and HIV Life Cycle. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. An important paralog of this gene is FKBP1C.

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. 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

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

Enhancers for FKBP1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F001321 1.5 FANTOM5 ENCODE 17 +66.0 66041 11.1 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SDCBP2 FKBP1A ENSG00000229728 MIR6869 SIRPB1 SIRPG SDCBP2-AS1
GH20F001433 1.4 Ensembl ENCODE 12.3 -41.6 -41627 2.0 PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 YY1 FOS SP3 JUNB NSFL1C FKBP1A MIR6869 SDCBP2 ENSG00000229728 SNPH GC20M001435 LOC105372497
GH20F001488 1.4 FANTOM5 ENCODE 9.9 -97.7 -97659 4.0 HDGF ATF1 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 SLC30A9 SIRPB2 NSFL1C SDCBP2 SIRPB1 ENSG00000242324 SIRPD FKBP1A MIR6869 SIRPA
GH20F001503 1.2 Ensembl ENCODE 10.3 -110.6 -110581 0.3 ATF1 WRNIP1 ARID4B FEZF1 DMAP1 SLC30A9 ZNF143 ZNF207 MXD4 MIER2 NSFL1C FKBP1A MIR6869 SDCBP2 SNPH PIR45069 LOC105372499
GH20F001437 1 Ensembl ENCODE 12.2 -44.2 -44212 0.4 HDGF CTCF PKNOX1 SAP130 ARID4B MAX ZNF2 RAD21 FOXK2 ZNF143 NSFL1C FKBP1A MIR6869 SDCBP2 GC20M001435
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FKBP1A on UCSC Golden Path with GeneCards custom track

Promoters for FKBP1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000396442 572 2401 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF263 SP3

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.
    • 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

Selected DME Specific Peptides for FKBP1A Gene

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

Post-translational modifications for FKBP1A Gene

  • Ubiquitination at Lys 48
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for FKBP1A
  • Cloud-Clone Corp. Antibodies for FKBP1A

Domains & Families for FKBP1A Gene

Gene Families for FKBP1A Gene

Protein Domains for FKBP1A Gene

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. 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.

Enzyme Numbers (IUBMB) 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 11322937
GO:0004871 signal transducer activity IMP 12761501
GO:0005160 transforming growth factor beta receptor binding TAS 11322937
GO:0005515 protein binding IPI 10025408
GO:0005527 macrolide 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

miRNA for FKBP1A Gene

miRTarBase miRNAs that target FKBP1A

Inhibitory RNA 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

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
extracellular 5
cytosol 5
endoplasmic reticulum 4
plasma membrane 2
nucleus 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
GO:0005789 endoplasmic reticulum membrane IBA --
GO:0005829 cytosol TAS --
GO:0014802 terminal cisterna ISS 1374404
GO:0016020 membrane IEA,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:0000413 protein peptidyl-prolyl isomerization IDA 1696686
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0003007 heart morphogenesis ISS --
GO:0006457 protein folding IEA,NAS 1930186
GO:0006458 de novo protein folding TAS 11322937
genes like me logo Genes that share ontologies with FKBP1A: view

Drugs & Compounds for FKBP1A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma inhibitor, Target 1074
Pimecrolimus Approved, Investigational Pharma inhibitor, Target, potentiator 62
Sirolimus Approved, Investigational Pharma inhibitor, Target, other Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1896
Everolimus Approved Pharma inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1896
Cyclosporine Approved, Investigational, Vet_approved Pharma Antagonist Immunosuppressant drug, Immunosuppressive agent, Calcineurin inhibitor 915

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

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

(5) Tocris Compounds for FKBP1A Gene

Compound Action Cas Number
Calyculin A Protein phosphatase 1 and 2A inhibitor 101932-71-2
Cyclosporin A Calcineurin inhibitor 59865-13-3
FK 506 Potent calcineurin inhibitor; immunosuppressant 104987-11-3
Okadaic acid Protein phosphatase 1 and 2A inhibitor 78111-17-8
Tautomycetin Selective PP1 inhibitor 119757-73-2

(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

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 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, PaxDb, MaxQB, and MOPED for FKBP1A Gene



Protein tissue co-expression partners for FKBP1A Gene

NURSA nuclear receptor signaling pathways regulating expression of FKBP1A Gene:

FKBP1A

SOURCE GeneReport for Unigene cluster for FKBP1A Gene:

Hs.471933
genes like me logo Genes that share expression patterns with FKBP1A: view

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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
FKBP1A 34
  • 95.37 (n)
cow
(Bos Taurus)
Mammalia FKBP1A 34
  • 94.14 (n)
-- 35
  • 89 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 94 (a)
ManyToMany
-- 35
  • 77 (a)
ManyToMany
-- 35
  • 77 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Fkbp1a 34 16 35
  • 93.21 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp1a 34
  • 91.98 (n)
chicken
(Gallus gallus)
Aves FKBP12 35
  • 91 (a)
OneToMany
FKBP1A 34
  • 83.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 89 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii fkbp1ab 34 35
  • 72.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta FK506-bp2 36 35
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea fkb-2 36
  • 60 (a)
fkb-8 35
  • 16 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR1 35 37
  • 54 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3865 35
  • 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)

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

Sequence variations from dbSNP and Humsavar for FKBP1A Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1062369 -- 1,369,038(-) CCAGC(A/C)CCATT intron-variant, utr-variant-3-prime
rs10696091 -- 1,388,001(+) GTAAA(-/CAC)CACCA intron-variant
rs111312897 -- 1,385,387(+) TCCAT(C/T)TCCAA intron-variant
rs111345970 -- 1,388,470(+) TGCTT(C/T)ACAGC intron-variant
rs111597040 -- 1,391,960(+) CAAGC(C/T)TGTAA intron-variant

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)

Relevant External Links for FKBP1A Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
reticulate acropigmentation of kitamura
  • rapk
- 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 22 64
  2. Three distinct messenger RNAs can encode the human immunosuppressant- binding protein FKBP12. (PMID: 7529739) Peattie D.A. … Lippke J.A. (Gene 1994) 3 4 22 64
  3. Solution structure of FK506 bound to FKBP-12. (PMID: 1375171) Lepre C.A. … Moore J.M. (FEBS Lett. 1992) 3 4 22 64
  4. Exon organization of the human FKBP-12 gene: correlation with structural and functional protein domains. (PMID: 1716149) Dilella A.G. … Craig R.J. (Biochemistry 1991) 3 4 22 64
  5. Chromosomal assignment of the human immunophilin FKBP-12 gene. (PMID: 1930186) DiLella A.G. (Biochem. Biophys. Res. Commun. 1991) 2 3 22 64

Products for FKBP1A Gene

Sources for FKBP1A Gene

Content
Loading form....