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

Gene ID: 2280, updated on 3-Nov-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: HPA RNA-seq normal tissues 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

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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 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 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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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_000801.5 → 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

Gene LinkOut

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