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    Fkbp1a FK506 binding protein 1a [ Mus musculus (house mouse) ]

    Gene ID: 14225, updated on 31-Jan-2019

    Summary

    Official Symbol
    Fkbp1aprovided by MGI
    Official Full Name
    FK506 binding protein 1aprovided by MGI
    Primary source
    MGI:MGI:95541
    See related
    Ensembl:ENSMUSG00000032966
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fkbp; Fkbp1; FKBP12
    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]
    Expression
    Ubiquitous expression in cortex adult (RPKM 90.0), frontal lobe adult (RPKM 82.4) and 28 other tissues See more
    Orthologs

    Genomic context

    See Fkbp1a in Genome Data Viewer
    Location:
    2; 2 G3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (151542483..151561691)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (151368235..151387427)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene NSFL1 (p97) cofactor (p47) Neighboring gene predicted gene 14167 Neighboring gene predicted gene, 39959 Neighboring gene syndecan binding protein (syntenin) 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    FK506 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    FK506 binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Hsp70 protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    activin binding ISO
    Inferred from Sequence Orthology
    more info
     
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-prolyl cis-trans isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-prolyl cis-trans isomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    type I transforming growth factor beta receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    SMAD protein complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    amyloid fibril formation ISO
    Inferred from Sequence Orthology
    more info
     
    chaperone-mediated protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart trabecula formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of phosphoprotein phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    protein peptidyl-prolyl isomerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein peptidyl-prolyl isomerization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of activin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of amyloid precursor protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of immune response ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of ryanodine-sensitive calcium-release channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ryanodine-sensitive calcium-release channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to caffeine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    supramolecular fiber organization ISO
    Inferred from Sequence Orthology
    more info
     
    ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc ISO
    Inferred from Sequence Orthology
    more info
     
    axon terminus ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP1A
    Names
    FK506 binding protein 12
    PPIase FKBP1A
    calstabin-1
    immunophilin FKBP12
    NP_001289006.1
    NP_001289007.1
    NP_001289008.1
    NP_001289009.1
    NP_032045.1
    XP_011237594.1
    XP_017171014.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001302077.1NP_001289006.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform 1

      See identical proteins and their annotated locations for NP_001289006.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AK169242, BE945323, BY065108, BY108774, CJ081656
      Consensus CDS
      CCDS16869.1
      UniProtKB/Swiss-Prot
      P26883
      Conserved Domains (1) summary
      COG0545
      Location:2106
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
    2. NM_001302078.1NP_001289007.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform 2

      See identical proteins and their annotated locations for NP_001289007.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' region and uses an alternate start codon compared to variant 1. It encodes isoform 2 which has a distinct N-terminus and is longer than isoform 1. Variants 4 and 7 both encode the same isoform (2).
      Source sequence(s)
      AB241120, AK169242, BE945323, BY065108, BY108774, CJ081656
      UniProtKB/Swiss-Prot
      P26883
      UniProtKB/TrEMBL
      Q1JUQ8, Q3UKJ3
      Conserved Domains (1) summary
      pfam00254
      Location:71147
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    3. NM_001302079.1NP_001289008.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform 3

      See identical proteins and their annotated locations for NP_001289008.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon in the 5' region and uses an alternate start codon compared to variant 1. It encodes isoform 3 which has a distinct N-terminus and is shorter than isoform 1. Variants 5 and 6 both encode the same isoform (3).
      Source sequence(s)
      AB241121, AK169242, BE945323, BY065108, BY108774, CJ081656
      UniProtKB/Swiss-Prot
      P26883
      UniProtKB/TrEMBL
      Q1JUQ7
      Conserved Domains (1) summary
      pfam00254
      Location:25101
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    4. NM_001302080.1NP_001289009.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform 3

      See identical proteins and their annotated locations for NP_001289009.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate exon in the 5' region, uses an alternate start codon, and differs in the 3' UTR compared to variant 1. It encodes isoform 3 which has a distinct N-terminus and is shorter than isoform 1. Variants 5 and 6 both encode the same isoform (3).
      Source sequence(s)
      AK169242, BE945323, BY065108, BY108774, CJ081656, CX239711
      UniProtKB/Swiss-Prot
      P26883
      Conserved Domains (1) summary
      pfam00254
      Location:25101
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    5. NM_001355077.1NP_001342006.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 4, encodes isoform 2.
      Source sequence(s)
      AL928719
      Conserved Domains (1) summary
      pfam00254
      Location:71147
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    6. NM_001355078.1NP_001342007.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL928719
      Conserved Domains (1) summary
      pfam00254
      Location:176
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    7. NM_008019.3NP_032045.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform 1

      See identical proteins and their annotated locations for NP_032045.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AK169242, BE945323, BY065108, BY108774, CJ081656
      Consensus CDS
      CCDS16869.1
      UniProtKB/Swiss-Prot
      P26883
      Related
      ENSMUSP00000037206.5, ENSMUST00000044011.11
      Conserved Domains (1) summary
      COG0545
      Location:2106
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. NR_126058.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB241122, AK169242, BE945323, BY065108, BY108774, CJ081656, CX239711

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      151542483..151561691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239292.2XP_011237594.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform X1

      See identical proteins and their annotated locations for XP_011237594.1

      UniProtKB/TrEMBL
      Q3UKJ3
      Conserved Domains (1) summary
      pfam00254
      Location:71147
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    2. XM_017315525.1XP_017171014.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform X1

      UniProtKB/TrEMBL
      Q3UKJ3
      Related
      ENSMUSP00000118725.1, ENSMUST00000142271.1
      Conserved Domains (1) summary
      pfam00254
      Location:71147
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
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