Fkbp8 FK506 binding protein 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fkbp8provided by MGI
Official Full Name: FK506 binding protein 8provided by MGI
Primary source: MGI:MGI:1341070
See related: Ensembl:ENSMUSG00000019428 AllianceGenome:MGI:1341070
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 38kDa; FKBP-8; Fkbp38; FKBP-38; FKBPR38; mFKBP38
Summary: Enables protein folding chaperone. Acts upstream of or within several processes, including dorsal/ventral neural tube patterning; positive regulation of BMP signaling pathway; and smoothened signaling pathway. Located in mitochondrial envelope. Is integral component of endoplasmic reticulum membrane. Is expressed in embryo. Used to study clubfoot. Orthologous to human FKBP8 (FKBP prolyl isomerase 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 130.6), colon adult (RPKM 114.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.15 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (70980371..70987978)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (70527721..70535328)

Chromosome 8 - NC_000074.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 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.
FKBP8 plays a protective role against hemodynamic stress in the heart mediated via inhibition of the accumulation of misfolded proteins and endoplasmic reticulum-associated apoptosis.
Title: FKBP8 protects the heart from hemodynamic stress by preventing the accumulation of misfolded proteins and endoplasmic reticulum-associated apoptosis in mice.
ZMYND10 is a novel co-chaperone that confers specificity for the FKBP8-HSP90 chaperone complex towards axonemal dynein clients required for cilia motility.
Title: ZMYND10 functions in a chaperone relay during axonemal dynein assembly.
Our findings thus indicate that the FKBP38-ANKMY2 axis plays a key role in regulation of Shh signaling in vivo.
Title: Role of the ANKMY2-FKBP38 axis in regulation of the Sonic hedgehog (Shh) signaling pathway.
A total of 54 genes were determined to be differentially expressed (25 downregulated, 29 upregulated) in the FKBP8Gt((neo)) mouse embryos.
Title: Transcriptional analyses of two mouse models of spina bifida.
In pre-hearing time Fkbp8-specific signal was also observed in the tectorial membrane, whose alpha- and beta-Tectorin components show similar time-dependent expression of mRNA as Fkbp8.
Title: Temporal expression pattern of Fkbp8 in rodent cochlea.
Data indicate that PHD2 protein stability is regulated by a ubiquitin-independent proteasomal pathway involving FKBP38 as adaptor protein that mediates proteasomal interaction.
Title: Hypoxia-inducible factor prolyl-4-hydroxylase PHD2 protein abundance depends on integral membrane anchoring of FKBP38.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH128354 (e-PCR)
- UniSTS:211662

Fkbp8 (e-PCR), detects polymorphism
- UniSTS:516082

Fkbp8 (e-PCR), detects polymorphism
- UniSTS:516083

Fkbp8 (e-PCR), detects polymorphism
- UniSTS:516084

Fkbp8 (e-PCR), detects polymorphism
- UniSTS:516085

Fkbp8 (e-PCR), detects polymorphism
- UniSTS:516086

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables isomerase activity	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
enables protein folding chaperone	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within protein folding	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein localization to mitochondrion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of mitophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay 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 envelope	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

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 38; PPIase FKBP8; rotamase

NP_001104536.1

EC 5.2.1.8

NP_001186560.1

EC 5.2.1.8

NP_034353.2

EC 5.2.1.8

XP_006509619.1

EC 5.2.1.8

XP_017168056.1

EC 5.2.1.8

XP_017168057.1

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.

mRNA and Protein(s)

NM_001111066.1 → NP_001104536.1 peptidyl-prolyl cis-trans isomerase FKBP8 isoform a

See identical proteins and their annotated locations for NP_001104536.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer protein (isoform a). Variants 1 and 3 encode the same protein.

Source sequence(s)

AK165281, BB842097, DV644627

Consensus CDS

CCDS52575.1

UniProtKB/TrEMBL

C9K0Z7

Related

ENSMUSP00000074935.8, ENSMUST00000075491.14

Conserved Domains (3) summary

COG0457
Location:206 → 329

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

sd00006
Location:245 → 292

TPR; TPR repeat [structural motif]

pfam00254
Location:103 → 192

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001199631.1 → NP_001186560.1 peptidyl-prolyl cis-trans isomerase FKBP8 isoform a

See identical proteins and their annotated locations for NP_001186560.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains a different segment for its 5' UTR, compared to variant 1. Variants 1 and 3 encode the same protein (isoform a).

Source sequence(s)

AC157774, AK165281, DV644627

Consensus CDS

CCDS52575.1

UniProtKB/TrEMBL

C9K0Z7

Related

ENSMUSP00000114069.2, ENSMUST00000119698.8

Conserved Domains (3) summary

COG0457
Location:206 → 329

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

sd00006
Location:245 → 292

TPR; TPR repeat [structural motif]

pfam00254
Location:103 → 192

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_010223.2 → NP_034353.2 peptidyl-prolyl cis-trans isomerase FKBP8 isoform b

See identical proteins and their annotated locations for NP_034353.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses a different splice site, compared to variant 1. The resulting protein (isoform b) is one amino acid shorter than isoform a.

Source sequence(s)

AK165281, BB842097, DV644627

Consensus CDS

CCDS52576.1

UniProtKB/Swiss-Prot

O35465, Q3UK86, Q6GTX9, Q811M7, Q811R4, Q8C2F0, Q99L93

UniProtKB/TrEMBL

C9K0Z7

Related

ENSMUSP00000112527.3, ENSMUST00000119353.9

Conserved Domains (3) summary

COG0457
Location:205 → 328

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

sd00006
Location:244 → 291

TPR; TPR repeat [structural motif]

pfam00254
Location:103 → 191

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

70980371..70987978

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017312567.3 → XP_017168056.1 peptidyl-prolyl cis-trans isomerase FKBP8 isoform X2

UniProtKB/Swiss-Prot

O35465, Q3UK86, Q6GTX9, Q811M7, Q811R4, Q8C2F0, Q99L93

UniProtKB/TrEMBL

C9K0Z7

Conserved Domains (3) summary

COG0457
Location:205 → 328

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

sd00006
Location:244 → 291

TPR; TPR repeat [structural motif]

pfam00254
Location:103 → 191

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
XM_006509556.4 → XP_006509619.1 peptidyl-prolyl cis-trans isomerase FKBP8 isoform X1

See identical proteins and their annotated locations for XP_006509619.1

UniProtKB/TrEMBL

C9K0Z7

Conserved Domains (3) summary

COG0457
Location:206 → 329

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

sd00006
Location:245 → 292

TPR; TPR repeat [structural motif]

pfam00254
Location:103 → 192

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
XM_017312568.2 → XP_017168057.1 peptidyl-prolyl cis-trans isomerase FKBP8 isoform X2

UniProtKB/Swiss-Prot

O35465, Q3UK86, Q6GTX9, Q811M7, Q811R4, Q8C2F0, Q99L93

UniProtKB/TrEMBL

C9K0Z7

Conserved Domains (3) summary

COG0457
Location:205 → 328

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

sd00006
Location:244 → 291

TPR; TPR repeat [structural motif]

pfam00254
Location:103 → 191

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