Homo sapiens Gene: FKBP1A
Summary
InnateDB Gene IDBG-39495.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FKBP1A
Gene Name FK506 binding protein 1A, 12kDa
Synonyms FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12; PKCI2; PPIASE;
Species Homo sapiens
Ensembl Gene ENSG00000088832
Encoded Proteins
FK506 binding protein 1A, 12kDa
FK506 binding protein 1A, 12kDa
FK506 binding protein 1A, 12kDa
FK506 binding protein 1A, 12kDa
FK506 binding protein 1A, 12kDa
FK506 binding protein 1A, 12kDa
FK506 binding protein 1A, 12kDa
FK506 binding protein 1A, 12kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:1368978-1393172
Strand Reverse strand
Band p13
Transcripts
ENST00000381724 ENSP00000371143
ENST00000381719 ENSP00000371138
ENST00000381715 ENSP00000371134
ENST00000400137 ENSP00000383003
ENST00000439640 ENSP00000409863
ENST00000474657
ENST00000460490
ENST00000474726
ENST00000612074 ENSP00000480846
ENST00000614856 ENSP00000482758
ENST00000618612 ENSP00000478093
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
Experimentally validated
Total 41 [view]
Protein-Protein 38 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0004871 signal transducer activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005219 ryanodine-sensitive calcium-release channel activity
GO:0005515 protein binding
GO:0005527 macrolide binding
GO:0005528 FK506 binding
GO:0034713 type I transforming growth factor beta receptor binding
GO:0044325 ion channel binding
GO:0046332 SMAD binding
GO:0048185 activin binding
Biological Process
GO:0000413 protein peptidyl-prolyl isomerization
GO:0003007 heart morphogenesis
GO:0006457 protein folding
GO:0006458 'de novo' protein folding
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007183 SMAD protein complex assembly
GO:0022417 protein maturation by protein folding
GO:0031398 positive regulation of protein ubiquitination
GO:0032092 positive regulation of protein binding
GO:0032513 negative regulation of protein phosphatase type 2B activity
GO:0032880 regulation of protein localization
GO:0032925 regulation of activin receptor signaling pathway
GO:0042026 protein refolding
GO:0042110 T cell activation
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043206 extracellular fibril organization
GO:0050776 regulation of immune response
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060347 heart trabecula formation
GO:0061077 chaperone-mediated protein folding
GO:0070588 calcium ion transmembrane transport
GO:1902991 regulation of amyloid precursor protein catabolic process
GO:1990000 amyloid fibril formation
Cellular Component
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0014802 terminal cisterna
GO:0016020 membrane
GO:0030018 Z disc
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
TGFBR1 KD Mutants in Cancer pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
TGF-beta receptor signaling activates SMADs pathway
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
KEGG
INOH
Insulin receptor signaling pathway
PID BIOCARTA
Mtor signaling pathway [Biocarta view]
PID NCI
Calcium signaling in the CD4+ TCR pathway
Alpha-synuclein signaling
ALK2 signaling events
ALK1 pathway
ALK1 signaling events
TGF-beta receptor signaling
Role of Calcineurin-dependent NFAT signaling in lymphocytes
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.471933
RefSeq NM_000801 NM_001199786 NM_054014
HUGO
OMIM
CCDS CCDS13014 CCDS74688
HPRD 01741
IMGT
EMBL
GenPept
RNA Seq Atlas