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    FKBP5 FK506 binding protein 5 [ Homo sapiens (human) ]

    Gene ID: 2289, updated on 23-Apr-2017
    Official Symbol
    FKBP5provided by HGNC
    Official Full Name
    FK506 binding protein 5provided by HGNC
    Primary source
    HGNC:HGNC:3721
    See related
    Ensembl:ENSG00000096060 MIM:602623; Vega:OTTHUMG00000014576
    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
    P54; AIG6; FKBP51; FKBP54; PPIase; Ptg-10
    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. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
    Orthologs
    Location:
    6p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (35573585..35728583, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35541362..35696360, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tubby like protein 1 Neighboring gene uncharacterized LOC101929309 Neighboring gene ribosomal protein S15a pseudogene 19 Neighboring gene ribosomal protein L36 pseudogene 9 Neighboring gene microRNA 5690 Neighboring gene uncharacterized LOC285847 Neighboring gene armadillo repeat containing 12 Neighboring gene UMP-CMP kinase pseudogene

    • 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?

    • Estrogen signaling pathway, organism-specific biosystem (from KEGG)
      Estrogen signaling pathway, organism-specific biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
    • Estrogen signaling pathway, conserved biosystem (from KEGG)
      Estrogen signaling pathway, conserved biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
    • Farnesoid X Receptor Pathway, organism-specific biosystem (from WikiPathways)
      Farnesoid X Receptor Pathway, organism-specific biosystemThe farnesoid X receptor (FXR, a.k.a. NR1H4) is a nuclear receptor that responds to levels of bile acids present in the body and regulates many processes related to bile acids synthesis and transport
    • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
      Glucocorticoid receptor regulatory network, organism-specific biosystem
      Glucocorticoid receptor regulatory network
    • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
      MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC111006

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FK506 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    peptidyl-prolyl cis-trans isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    chaperone-mediated protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein peptidyl-prolyl isomerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP5
    Names
    51 kDa FK506-binding protein
    51 kDa FKBP
    54 kDa progesterone receptor-associated immunophilin
    FF1 antigen
    FKBP-51
    HSP90-binding immunophilin
    PPIase FKBP5
    T-cell FK506-binding protein
    androgen-regulated protein 6
    peptidylprolyl cis-trans isomerase
    rotamase
    NP_001139247.1
    NP_001139248.1
    NP_001139249.1
    NP_004108.1

    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.

    Genomic

    1. NG_012645.2 RefSeqGene

      Range
      5001..159999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145775.2NP_001139247.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1

      See identical proteins and their annotated locations for NP_001139247.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AL033519, AW182642, BC042605, KF458140
      Consensus CDS
      CCDS4808.1
      UniProtKB/Swiss-Prot
      Q13451
      Related
      ENSP00000444810.1, ENST00000536438.5
      Conserved Domains (5) summary
      smart00028
      Location:319350
      TPR; Tetratricopeptide repeats
      sd00006
      Location:319345
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam00515
      Location:352384
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:319382
      TPR_11; TPR repeat
    2. NM_001145776.1NP_001139248.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1

      See identical proteins and their annotated locations for NP_001139248.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AK312422, AL033519, AL590400, AW182642
      Consensus CDS
      CCDS4808.1
      UniProtKB/Swiss-Prot
      Q13451
      Related
      ENSP00000441205.1, ENST00000539068.5
      Conserved Domains (5) summary
      smart00028
      Location:319350
      TPR; Tetratricopeptide repeats
      sd00006
      Location:319345
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam00515
      Location:352384
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:319382
      TPR_11; TPR repeat
    3. NM_001145777.1NP_001139249.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region and 3' UTR compared to variant 1 which result in a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB209893, AL033519, AL590400
      Consensus CDS
      CCDS54996.1
      UniProtKB/Swiss-Prot
      Q13451
      Related
      ENSP00000442340.1, ENST00000542713.1
      Conserved Domains (2) summary
      pfam00254
      Location:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      cl19519
      Location:158221
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    4. NM_004117.3NP_004108.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1

      See identical proteins and their annotated locations for NP_004108.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AL033519, AW182642, BC111050, DB066174, U42031
      Consensus CDS
      CCDS4808.1
      UniProtKB/Swiss-Prot
      Q13451
      UniProtKB/TrEMBL
      Q2TA84
      Related
      ENSP00000349811.3, OTTHUMP00000016268, ENST00000357266.8, OTTHUMT00000040309
      Conserved Domains (5) summary
      smart00028
      Location:319350
      TPR; Tetratricopeptide repeats
      sd00006
      Location:319345
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam00515
      Location:352384
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:319382
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      35573585..35728583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      35543370..35695008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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