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

    Gene ID: 2280, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A kinetically trapped intermediate of FK506 binding protein forms in vitro: chaperone machinery dominates protein folding in vivo. Wear MA, et al. Protein Expr Purif, 2007 Jan. PMID 16908189
    2. An inositolphosphate-binding immunophilin, IPBP12. Cunningham EB. Blood, 1999 Oct 15. PMID 10515881
    3. X-ray structures of small ligand-FKBP complexes provide an estimate for hydrophobic interaction energies. Burkhard P, et al. J Mol Biol, 2000 Jan 28. PMID 10656803
    4. A ligand-reversible dimerization system for controlling protein-protein interactions. Rollins CT, et al. Proc Natl Acad Sci U S A, 2000 Jun 20. PMID 10852943, Free PMC Article
    5. Gene expression profiling of human stent-induced neointima by cDNA array analysis of microscopic specimens retrieved by helix cutter atherectomy: Detection of FK506-binding protein 12 upregulation. Zohlnhöfer D, et al. Circulation, 2001 Mar 13. PMID 11245643

    See all (191) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis.
      Title: HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis.
    2. The high FKBP1A expression in WBCs as a potential screening biomarker for pancreatic cancer.
      Title: The high FKBP1A expression in WBCs as a potential screening biomarker for pancreatic cancer.
    3. Circ_0088212 Targeting miR-576-5p/FKBP1A Axis Inhibits Osteosarcoma Progression.
      Title: Circ_0088212 Targeting miR-576-5p/FKBP1A Axis Inhibits Osteosarcoma Progression.
    4. Upregulated FKBP1A Suppresses Glioblastoma Cell Growth via Apoptosis Pathway.
      Title: Upregulated FKBP1A Suppresses Glioblastoma Cell Growth via Apoptosis Pathway.
    5. The Prognostic Significance of FKBP1A and Its Related Immune Infiltration in Liver Hepatocellular Carcinoma.
      Title: The Prognostic Significance of FKBP1A and Its Related Immune Infiltration in Liver Hepatocellular Carcinoma.
    6. FKBP1A upregulation correlates with poor prognosis and increased metastatic potential of HNSCC.
      Title: FKBP1A upregulation correlates with poor prognosis and increased metastatic potential of HNSCC.
    7. FKBP51 promotes invasion and migration by increasing the autophagic degradation of TIMP3 in clear cell renal cell carcinoma.
      Title: FKBP51 promotes invasion and migration by increasing the autophagic degradation of TIMP3 in clear cell renal cell carcinoma.
    8. CircRNA pappalysin 1 facilitates prostate cancer development through miR-515-5p/FKBP1A axis.
      Title: CircRNA pappalysin 1 facilitates prostate cancer development through miR-515-5p/FKBP1A axis.
    9. Regulation of the Ca(2+)-activated chloride channel Anoctamin-1 (TMEM16A) by Ca(2+)-induced interaction with FKBP12 and calcineurin.
      Title: Regulation of the Ca(2+)-activated chloride channel Anoctamin-1 (TMEM16A) by Ca(2+)-induced interaction with FKBP12 and calcineurin.
    10. Study discovered that FKBP12 is essential for initiating necrosome formation and RIPK1-RIPK3-MLKL signaling pathway activation in response to TNF receptor 1 ligation. In addition, FKBP12 is indispensable for RIPK1 and RIPK3 expression and subsequent spontaneous phosphorylation, which are essential processes for initial necrosome formation and necroptotic signal transduction.
      Title: FKBP12 mediates necroptosis by initiating RIPK1-RIPK3-MLKL signal transduction in response to TNF receptor 1 ligation.
    Submit: New GeneRIF Correction See all GeneRIFs (54)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_000801.5 → NP_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:2 → 106
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

    2. NM_001199786.2 → NP_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:2 → 28
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

    3. NM_054014.4 → NP_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:2 → 106
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62942.2 GenPept UniProtKB/Swiss-Prot:P62942

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