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    FKBP1A FK506 binding protein 1A [ Homo sapiens (human) ]

    Gene ID: 2280, updated on 8-Apr-2018
    Official Symbol
    FKBP1Aprovided by HGNC
    Official Full Name
    FK506 binding protein 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:3711
    See related
    Ensembl:ENSG00000088832 MIM:186945; Vega:OTTHUMG00000031666
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FKBP1; PKC12; PKCI2; FKBP12; PPIASE; FKBP-12; FKBP-1A
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 88.0), thyroid (RPKM 87.6) and 25 other tissues See more
    Orthologs
    Location:
    20p13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (1368977..1393172, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1349621..1373816, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene syntaphilin Neighboring gene FKBP1A-SDCBP2 readthrough (NMD candidate) Neighboring gene syndecan binding protein 2 Neighboring gene SDCBP2 antisense RNA 1 Neighboring gene uncharacterized LOC105372497 Neighboring gene microRNA 6869 Neighboring gene NSFL1 cofactor

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Macrophage- and T-cell-tropic V3 loop peptides of HIV-1 gp120 bind specifically to the active site of the immunophilins FK506-binding protein (FKBP12), and cyclophilins A and B, and inhibit their peptidyl-prolyl cis-trans isomerase (PPIase) activities PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FK506 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    FK506 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    FK506 binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    activin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT calcium channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion channel binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ion channel binding TAS
    Traceable Author Statement
    more info
    PubMed 
    macrolide binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    peptidyl-prolyl cis-trans isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    peptidyl-prolyl cis-trans isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-prolyl cis-trans isomerase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity HMP PubMed 
    transforming growth factor beta receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transforming growth factor beta receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    type I transforming growth factor beta receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    'de novo' protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    SMAD protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T cell activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    chaperone-mediated protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart trabecula formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT negative regulation of release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT negative regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein folding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein maturation by protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein peptidyl-prolyl isomerization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein peptidyl-prolyl isomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein refolding TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of amyloid precursor protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein localization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    supramolecular fiber organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic side of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extrinsic component of organelle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ryanodine receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    terminal cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP1A
    Names
    12 kDa FK506-binding protein
    12 kDa FKBP
    FK506 binding protein 1A, 12kDa
    FK506 binding protein12
    FK506-binding protein 1
    FK506-binding protein 12
    FK506-binding protein, T-cell, 12-kD
    FKBP12-Exip3
    PPIase FKBP1A
    calstabin-1
    immunophilin FKBP12
    protein kinase C inhibitor 2
    rotamase
    NP_000792.1
    NP_001186715.1
    NP_463460.1

    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_000801.4NP_000792.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform a

      See identical proteins and their annotated locations for NP_000792.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as 12B) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL136531, BC119732, CA450516, CX870892
      Consensus CDS
      CCDS13014.1
      UniProtKB/Swiss-Prot
      P62942
      UniProtKB/TrEMBL
      Q0VDC6
      Related
      ENSP00000383003.4, OTTHUMP00000029977, ENST00000400137.8, OTTHUMT00000077534
      Conserved Domains (1) summary
      COG0545
      Location:2106
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
    2. NM_001199786.1NP_001186715.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL136531, BU540706, CA450516, CX870892
      Consensus CDS
      CCDS74688.1
      UniProtKB/TrEMBL
      A0A087WTS4
      Related
      ENSP00000478093.1, ENST00000618612.4
      Conserved Domains (1) summary
      COG0545
      Location:228
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
    3. NM_054014.3NP_463460.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform a

      See identical proteins and their annotated locations for NP_463460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as 12A) differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      BC005147, CN426120, CX870892, X52220
      Consensus CDS
      CCDS13014.1
      UniProtKB/Swiss-Prot
      P62942
      Related
      ENSP00000371138.3, OTTHUMP00000029978, ENST00000381719.7, OTTHUMT00000077535
      Conserved Domains (1) summary
      COG0545
      Location:2106
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      1368977..1393172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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