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FKBP5 FKBP prolyl isomerase 5 [ Homo sapiens (human) ]

Gene ID: 2289, updated on 8-Dec-2018

Summary

Official Symbol
FKBP5provided by HGNC
Official Full Name
FKBP prolyl isomerase 5provided by HGNC
Primary source
HGNC:HGNC:3721
See related
Ensembl:ENSG00000096060 MIM:602623
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]
Expression
Broad expression in fat (RPKM 97.5), lymph node (RPKM 33.3) and 18 other tissues See more
Orthologs

Genomic context

See FKBP5 in Genome Data Viewer
Location:
6p21.31
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC112267956 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-like

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111006

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FK506 binding IEA
Inferred from Electronic Annotation
more info
 
heat shock protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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
FK506 binding protein 5
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

NCBI Reference Sequences (RefSeq)

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, ENST00000357266.8
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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