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

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; AllianceGenome:HGNC:3721
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: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (35573590..35728583, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (35396664..35548947, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (35541367..35696360, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KIBRA, MTNR1B, and FKBP5 genotypes are associated with decreased odds of incident delirium in elderly post-surgical patients.
Title: KIBRA, MTNR1B, and FKBP5 genotypes are associated with decreased odds of incident delirium in elderly post-surgical patients.
The association of FKBP5 gene polymorphism with genetic susceptibility to depression and response to antidepressant treatment- a systematic review.
Title: The association of FKBP5 gene polymorphism with genetic susceptibility to depression and response to antidepressant treatment- a systematic review.
Differential impact of prenatal PTSD symptoms and preconception trauma exposure on placental NR3C1 and FKBP5 methylation.
Title: Differential impact of prenatal PTSD symptoms and preconception trauma exposure on placental NR3C1 and FKBP5 methylation.
Sex-dependent association of DNA methylation of HPA axis-related gene FKBP5 with obsessive-compulsive disorder.
Title: Sex-dependent association of DNA methylation of HPA axis-related gene FKBP5 with obsessive-compulsive disorder.
HPA flexibility and FKBP5: promising physiological targets for conservation.
Title: HPA flexibility and FKBP5: promising physiological targets for conservation.
Methylation Patterns of the FKBP5 Gene in Association with Childhood Maltreatment and Depressive Disorders.
Title: Methylation Patterns of the FKBP5 Gene in Association with Childhood Maltreatment and Depressive Disorders.
Blood mRNA expression levels of glucocorticoid receptors and FKBP5 are associated with depressive disorder and altered HPA axis.
Title: Blood mRNA expression levels of glucocorticoid receptors and FKBP5 are associated with depressive disorder and altered HPA axis.
Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
Title: Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
FKBP5 associated CD8 T cell infiltration is a novel prognostic biomarker in luminal B breast cancer.
Title: FKBP5 associated CD8 T cell infiltration is a novel prognostic biomarker in luminal B breast cancer.
Downregulation of FKBP5 Promotes Atrial Arrhythmogenesis.
Title: Downregulation of FKBP5 Promotes Atrial Arrhythmogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (321)

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

Associated conditions

Description	Tests
Major depressive disorder MedGen: C1269683 OMIM: 608516 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33930 (e-PCR)
- UniSTS:14373

D8S2279 (e-PCR)
- UniSTS:473907

D6S1645 (e-PCR)
- UniSTS:26431

STS-N39562 (e-PCR)
- UniSTS:79425

SHGC-132511 (e-PCR)
- UniSTS:173933

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

D6S1111E (e-PCR)
- UniSTS:64680

STS-R01175 (e-PCR)
- UniSTS:54449

SGC32907 (e-PCR)
- UniSTS:32968

SHGC-32701 (e-PCR)
- UniSTS:45520

GDB:631813 (e-PCR)
- UniSTS:158430

RH47153 (e-PCR)
- UniSTS:8163

FKBP5_1361 (e-PCR)
- UniSTS:277242

FKBP5_v427 (e-PCR)
- UniSTS:277242

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FK506 binding	TAS Traceable Author Statement 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 heat shock protein binding	IPI Inferred from Physical Interaction 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone-mediated protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in response to alcohol	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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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

EC 5.2.1.8

NP_001139248.1

EC 5.2.1.8

NP_001139249.1

EC 5.2.1.8

NP_004108.1

EC 5.2.1.8

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.

Genomic

NG_012645.2 RefSeqGene

Range

44669..159994

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145775.3 → NP_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

F5H7R1, Q13451, Q59EB8, Q5TGM6

UniProtKB/TrEMBL

Q2TA84, Q53GX4

Related

ENSP00000444810.1, ENST00000536438.5

Conserved Domains (3) summary

TIGR00990
Location:230 → 397

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:319 → 345

TPR; TPR repeat [structural motif]

pfam00254
Location:43 → 135

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001145776.2 → NP_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

F5H7R1, Q13451, Q59EB8, Q5TGM6

UniProtKB/TrEMBL

Q2TA84, Q53GX4

Related

ENSP00000441205.1, ENST00000539068.5

Conserved Domains (3) summary

TIGR00990
Location:230 → 397

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:319 → 345

TPR; TPR repeat [structural motif]

pfam00254
Location:43 → 135

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001145777.2 → NP_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:43 → 135

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

cl19519
Location:158 → 221

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_004117.4 → NP_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

F5H7R1, Q13451, Q59EB8, Q5TGM6

UniProtKB/TrEMBL

Q2TA84, Q53GX4

Related

ENSP00000349811.3, ENST00000357266.9

Conserved Domains (3) summary

TIGR00990
Location:230 → 397

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:319 → 345

TPR; TPR repeat [structural motif]

pfam00254
Location:43 → 135

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase