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    FKBP1A FKBP prolyl isomerase 1A [ Homo sapiens (human) ]

    Gene ID: 2280, updated on 9-Dec-2024

    Summary

    Official Symbol
    FKBP1Aprovided by HGNC
    Official Full Name
    FKBP prolyl isomerase 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:3711
    See related
    Ensembl:ENSG00000088832 MIM:186945; AllianceGenome:HGNC:3711
    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
    NEW
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    Genomic context

    See FKBP1A in Genome Data Viewer
    Location:
    20p13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1368978..1393054, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1418161..1442241, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1349622..1373698, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12589 Neighboring gene MPRA-validated peak4117 silencer Neighboring gene syntaphilin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:1275655-1276546 Neighboring gene FKBP1A-SDCBP2 readthrough (NMD candidate) Neighboring gene uncharacterized LOC124904856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17457 Neighboring gene Sharpr-MPRA regulatory region 67 Neighboring gene syndecan binding protein 2 Neighboring gene SDCBP2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 14422 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:1358033-1359232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:1371785-1372298 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:1373090-1373590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12592 Neighboring gene uncharacterized LOC105372497 Neighboring gene microRNA 6869 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:1396577-1397776 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:1408109-1408868 Neighboring gene NSFL1 cofactor Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:1446723-1447224

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FK506 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables FK506 binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II CTD heptapeptide repeat P3 isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat P6 isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables activin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables macrolide binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables peptidyl-prolyl cis-trans isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptidyl-prolyl cis-trans isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidyl-prolyl cis-trans isomerase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables transforming growth factor beta receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane transporter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transmembrane transporter binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in T cell activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart trabecula formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein maturation by protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein peptidyl-prolyl isomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein refolding TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of amyloid precursor protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein localization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in supramolecular fiber organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ryanodine receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sarcoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in terminal cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    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 1A
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000801.5NP_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
      Consensus CDS
      CCDS13014.1
      UniProtKB/Swiss-Prot
      D3DVW6, P20071, P62942, Q4VC47, Q6FGD9, Q6LEU3, Q9H103, Q9H566
      UniProtKB/TrEMBL
      F6T7Q3
      Related
      ENSP00000383003.4, ENST00000400137.9
      Conserved Domains (1) summary
      COG0545
      Location:2106
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
    2. NM_001199786.2NP_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
      Consensus CDS
      CCDS74688.1
      UniProtKB/TrEMBL
      A0A087WTS4, Q1JUQ4, Q5W0X3
      Related
      ENSP00000478093.1, ENST00000618612.5
      Conserved Domains (1) summary
      COG0545
      Location:228
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
    3. NM_054014.4NP_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
      D3DVW6, P20071, P62942, Q4VC47, Q6FGD9, Q6LEU3, Q9H103, Q9H566
      UniProtKB/TrEMBL
      F6T7Q3
      Related
      ENSP00000371138.3, ENST00000381719.8
      Conserved Domains (1) summary
      COG0545
      Location:2106
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1368978..1393054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1418161..1442241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)