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

Gene ID: 2289, updated on 24-Apr-2016
Official Symbol
FKBP5provided by HGNC
Official Full Name
FK506 binding protein 5provided by HGNC
Primary source
HGNC:HGNC:3721
See related
Ensembl:ENSG00000096060 HPRD:04019; 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
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105375033 Neighboring gene ribosomal protein L36 pseudogene 9 Neighboring gene uncharacterized LOC105375032 Neighboring gene microRNA 5690 Neighboring gene collagen alpha-1(III) chain-like Neighboring gene uncharacterized LOC285847 Neighboring gene armadillo repeat containing 12 Neighboring gene UMP-CMP kinase pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 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
endoplasmic reticulum membrane 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, ENST00000536438
    Conserved Domains (5) summary
    smart00028
    Location:319350
    TPR; Tetratricopeptide repeats
    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
    sd00006
    Location:319345
    TPR; TPR repeat [structural motif]
  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, ENST00000539068
    Conserved Domains (5) summary
    smart00028
    Location:319350
    TPR; Tetratricopeptide repeats
    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
    sd00006
    Location:319345
    TPR; TPR repeat [structural motif]
  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, ENST00000542713
    Conserved Domains (1) summary
    pfam00254
    Location:43135
    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, OTTHUMP00000016268, ENST00000357266, OTTHUMT00000040309
    Conserved Domains (5) summary
    smart00028
    Location:319350
    TPR; Tetratricopeptide repeats
    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
    sd00006
    Location:319345
    TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 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)