Mus musculus Gene: Fkbp1a
Summary
InnateDB Gene IDBG-209494.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Fkbp1a
Gene Name FK506 binding protein 1a
Synonyms Fkbp; Fkbp1; FKBP12
Species Mus musculus
Ensembl Gene ENSMUSG00000032966
Encoded Proteins
FK506 binding protein 1a
FK506 binding protein 1a
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the immunophilin family. The encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, and is associated with immunoregulation, protein folding, receptor signaling, protein trafficking and T-cell activation. It may modulate the calcium release activity of the ryanodine receptor Ryr1. It also interacts with the type I TGF-beta receptor. Disruption of this gene in mouse causes severe ventricular defects. Pseudogenes of this gene have been defined on chromosomes 4, 10, 14, and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:151542483-151561692
Strand Forward strand
Band G3
Transcripts
ENSMUST00000044011 ENSMUSP00000037206
ENSMUST00000142985
ENSMUST00000137597
ENSMUST00000126670
ENSMUST00000148295
ENSMUST00000143230
ENSMUST00000144171
ENSMUST00000148978
ENSMUST00000142271 ENSMUSP00000118725
ENSMUST00000132614
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 13 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0005528 FK506 binding
GO:0008144 drug binding
GO:0019899 enzyme binding
GO:0030544 Hsp70 protein binding
GO:0034713 type I transforming growth factor beta receptor binding
GO:0042803 protein homodimerization activity
GO:0044325 ion channel binding
Biological Process
GO:0000413 protein peptidyl-prolyl isomerization
GO:0001933 negative regulation of protein phosphorylation
GO:0003007 heart morphogenesis
GO:0006457 protein folding
GO:0006936 muscle contraction
GO:0010039 response to iron ion
GO:0018208 peptidyl-proline modification
GO:0019221 cytokine-mediated signaling pathway
GO:0031000 response to caffeine
GO:0042098 T cell proliferation
GO:0051209 release of sequestered calcium ion into cytosol
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060347 heart trabecula formation
Cellular Component
GO:0005829 cytosol
GO:0016020 membrane
GO:0030424 axon
GO:0033017 sarcoplasmic reticulum membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0043679 axon terminus
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
Disease pathway
Loss of Function of SMAD4 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGF-beta receptor signaling activates SMADs pathway
Loss of Function of TGFBR2 in Cancer pathway
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
Signal Transduction pathway
TGFBR1 KD Mutants in Cancer pathway
Signaling by TGF-beta Receptor Complex pathway
Loss of Function of SMAD2/3 in Cancer pathway
KEGG
INOH
Insulin receptor signaling pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.278458 Mm.308631 Mm.407898 Mm.472441 Mm.473600
RefSeq NM_008019 XM_006498748
OMIM
CCDS CCDS16869
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas