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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 58
  • 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 Development_TGF-beta receptor signaling. 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

Additional gene information for FKBP1A Gene

No data available for CIViC summary , 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
GH20H001321 1.8 FANTOM5 ENCODE dbSUPER 17 +66.0 66041 11.1 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B SDCBP2 FKBP1A ENSG00000229728 PSMF1 SIRPB1 SIRPG SDCBP2-AS1
GH20H001433 1.4 Ensembl ENCODE dbSUPER 12.3 -41.6 -41610 2 HDAC1 PKNOX1 ATF1 ZBTB40 YY1 TCF12 ZNF766 ATF7 RUNX3 CREM NSFL1C FKBP1A SDCBP2 ENSG00000229728 SNPH CSNK2A1 TBC1D20 GC20M001435 LOC105372497
GH20H001438 1.3 Ensembl ENCODE dbSUPER 12.2 -44.2 -44212 0.4 HDGF CTCF PKNOX1 FOXA2 SAP130 ARID4B MAX ZNF2 RAD21 CC2D1A NSFL1C FKBP1A SDCBP2 GC20M001435
GH20H001464 1.4 ENCODE dbSUPER 10.9 -74.8 -74821 6.7 HDGF FOXA2 MLX ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF766 NSFL1C SIRPB2 SDCBP2 SNPH FKBP1A GC20M001435
GH20H001486 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -96.6 -96629 6.4 JUND POLR2A CEBPB ZMYM3 MAX EBF1 MYC SPI1 SIRPB2 NSFL1C SDCBP2 SIRPB1 ENSG00000242324 SIRPD FKBP1A SIRPA
- 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
ENSR00000133533 572 2001 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF207

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)

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 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 isoforms=48
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for FKBP1A

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

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 :
  • 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

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 IEA,TAS 11322937
GO:0004871 signal transducer activity IMP 12761501
GO:0005160 transforming growth factor beta receptor binding TAS 11322937
GO:0005515 protein binding IPI 9857007
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

CRISPR Products

miRNA for FKBP1A Gene

miRTarBase miRNAs that target FKBP1A

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , 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
extracellular 5
endoplasmic reticulum 5
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FKBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12443530
GO:0005829 cytosol TAS,IDA --
GO:0014802 terminal cisterna ISS 1374404
GO:0016020 membrane IDA,IEA 12443530
GO:0016021 integral component of membrane IEA --
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 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, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma inhibitor, Target 1125
Pimecrolimus Approved, Investigational Pharma inhibitor, Target, potentiator 63
Sirolimus Approved, Investigational Pharma inhibitor, Target, other Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
Everolimus Approved Pharma inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
(21S)-1AZA-4,4-DIMETHYL-6,19-DIOXA-2,3,7,20-TETRAOXOBICYCLO[19.4.0] PENTACOSANE Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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

Unigene Clusters for FKBP1A Gene

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

CRISPR Products

Inhibitory RNA 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 CGAP 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

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(2.4)
  • Adrenal gland(2.2)
  • Spleen(2.2)
  • Liver(2.1)
  • 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 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
FKBP1A 33
  • 95.37 (n)
cow
(Bos Taurus)
Mammalia FKBP1A 33
  • 94.14 (n)
-- 34
  • 89 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 94 (a)
ManyToMany
-- 34
  • 77 (a)
ManyToMany
-- 34
  • 77 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Fkbp1a 33 16 34
  • 93.21 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp1a 33
  • 91.98 (n)
chicken
(Gallus gallus)
Aves FKBP12 34
  • 91 (a)
OneToMany
FKBP1A 33
  • 83.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 89 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii fkbp1ab 33 34
  • 72.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta FK506-bp2 35 34
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea fkb-2 35
  • 60 (a)
fkb-8 34
  • 16 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR1 34 36
  • 54 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3865 34
  • 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
rs1000139687 -- 1,373,916(+) TCCTC(A/C)CACTG intron-variant
rs1000211315 -- 1,374,282(+) CCCTA(C/T)TGTCT intron-variant
rs1000263220 -- 1,369,702(+) AAATT(-/AAAATA)AAATA intron-variant, cds-indel
rs1000279976 -- 1,388,866(+) GCCAC(A/G)TACCC intron-variant
rs1000291365 -- 1,388,610(+) TTGGG(A/G)ATCAC 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 (Journal of molecular endocrinology 2006) 3 4 22 60
  2. Three distinct messenger RNAs can encode the human immunosuppressant-binding protein FKBP12. (PMID: 7529739) Peattie DA … Lippke JA (Gene 1994) 3 4 22 60
  3. Solution structure of FK506 bound to FKBP-12. (PMID: 1375171) Lepre CA … Moore JM (FEBS letters 1992) 3 4 22 60
  4. Chromosomal assignment of the human immunophilin FKBP-12 gene. (PMID: 1930186) DiLella AG (Biochemical and biophysical research communications 1991) 2 3 22 60
  5. Exon organization of the human FKBP-12 gene: correlation with structural and functional protein domains. (PMID: 1716149) DiLella AG … Craig RJ (Biochemistry 1991) 3 4 22 60

Products for FKBP1A Gene

Sources for FKBP1A Gene

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