FKBP8 FKBP prolyl isomerase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FKBP8provided by HGNC
Official Full Name: FKBP prolyl isomerase 8provided by HGNC
Primary source: HGNC:HGNC:3724
See related: Ensembl:ENSG00000105701 MIM:604840; AllianceGenome:HGNC:3724
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: FKBP38; FKBPr38
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. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 106.8), brain (RPKM 101.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18531763..18543573, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18667119..18678929, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18642573..18654383, complement)

Chromosome 19 - NC_000019.10 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: 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?

FKBP38 suppresses endometrial cancer cell proliferation and metastasis by inhibiting the mTOR pathway.
Title: FKBP38 suppresses endometrial cancer cell proliferation and metastasis by inhibiting the mTOR pathway.
FKBP38 Regulates Self-Renewal and Survival of GBM Neurospheres.
Title: FKBP38 Regulates Self-Renewal and Survival of GBM Neurospheres.
Tacrolimus-binding protein FKBP8 directs myosin light chain kinase-dependent barrier regulation and is a potential therapeutic target in Crohn's disease.
Title: Tacrolimus-binding protein FKBP8 directs myosin light chain kinase-dependent barrier regulation and is a potential therapeutic target in Crohn's disease.
[Fkbp38 deletion induces premature ovarian insufficiency in mice by activating mTOR signaling and inducing granulosa cell apoptosis].
Title: [Fkbp38 deletion induces premature ovarian insufficiency in mice by activating mTOR signaling and inducing granulosa cell apoptosis].
FKBP8 is a novel molecule that participates in the regulation of the autophagic pathway.
Title: FKBP8 is a novel molecule that participates in the regulation of the autophagic pathway.
FKBP8 variants are risk factors for spina bifida.
Title: FKBP8 variants are risk factors for spina bifida.
FKBP8 LIRL-dependent mitochondrial fragmentation facilitates mitophagy under stress conditions.
Title: FKBP8 LIRL-dependent mitochondrial fragmentation facilitates mitophagy under stress conditions.
This study identifies FK506 binding protein 8 (FKBP8) as a candidate interacting protein of VISA through the yeast two-hybrid technique. A novel function of FKBP8 in innate immunity antiviral signaling regulation was revealed in this study.
Title: FKBP8 inhibits virus-induced RLR-VISA signaling.
Results demonstrated that FKBP8 physically interacts and co-localizes with SPP in endoplasmic reticulum, supporting that FKBP8 is a bona fide substrate of SPP. Also, the data support the involvement of inverse regulation of FKBP8 and mTOR signaling in SPP-enhanced tumorigenicity.
Title: Signal peptide peptidase promotes tumor progression via facilitating FKBP8 degradation.
FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane
Title: FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FKBP8 (e-PCR)
- UniSTS:505729

STS-L37033 (e-PCR)
- UniSTS:71826

D15S134E (e-PCR)
- UniSTS:147417

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	EXP Inferred from Experiment more info	PubMed
enables calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables disordered domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptidyl-prolyl cis-trans isomerase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IBA Inferred from Biological aspect of Ancestor more info
enables protein folding chaperone	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral neural tube patterning	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron fate specification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein folding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to mitochondrion	IPI Inferred from Physical Interaction more info	PubMed
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrial envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase FKBP8

Names: 38 kDa FK506-binding protein; 38 kDa FKBP; FK506 binding protein 8, 38kDa; FK506-binding protein 8; FKBP-38; FKBP-8; PPIase FKBP8; hFKBP38; rotamase

NP_001295302.1

EC 5.2.1.8

NP_036313.3

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.

mRNA and Protein(s)

NM_001308373.2 → NP_001295302.1 peptidyl-prolyl cis-trans isomerase FKBP8 isoform 2

See identical proteins and their annotated locations for NP_001295302.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site at an internal exon compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AK313363, AY278607, BU752982, DB471984

Consensus CDS

CCDS77266.1

UniProtKB/Swiss-Prot

C8C9T5, Q14318, Q53GU3, Q7Z349, Q86YK6

UniProtKB/TrEMBL

B7Z6M0

Related

ENSP00000222308.4, ENST00000222308.8

Conserved Domains (3) summary

COG0457
Location:215 → 338

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:230 → 266

TPR; TPR repeat [structural motif]

pfam00254
Location:113 → 201

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_012181.5 → NP_036313.3 peptidyl-prolyl cis-trans isomerase FKBP8 isoform 1

See identical proteins and their annotated locations for NP_036313.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC009966, BU752982, BX538124

Consensus CDS

CCDS32961.1

UniProtKB/TrEMBL

B7Z6M0

Related

ENSP00000476767.1, ENST00000608443.6

Conserved Domains (4) summary

smart00028
Location:307 → 340

TPR; Tetratricopeptide repeats

sd00006
Location:231 → 267

TPR; TPR repeat [structural motif]

pfam00254
Location:113 → 202

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

pfam13414
Location:274 → 338

TPR_11; TPR repeat