Fkbp1b FK506 binding protein 1b [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fkbp1bprovided by MGI
Official Full Name: FK506 binding protein 1bprovided by MGI
Primary source: MGI:MGI:1336205
See related: Ensembl:ENSMUSG00000020635 AllianceGenome:MGI:1336205
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: 12.6kDa; FKBP12.6; calstabin2
Summary: Enables FK506 binding activity; peptidyl-prolyl cis-trans isomerase activity; and transmembrane transporter binding activity. Involved in negative regulation of heart rate; regulation of cytosolic calcium ion concentration; and regulation of release of sequestered calcium ion into cytosol. Acts upstream of or within several processes, including insulin secretion; negative regulation of insulin secretion involved in cellular response to glucose stimulus; and neuronal action potential propagation. Located in sarcoplasmic reticulum membrane. Part of calcium channel complex. Is expressed in nervous system and testis. Used to study catecholaminergic polymorphic ventricular tachycardia. Human ortholog(s) of this gene implicated in Graves' disease. Orthologous to human FKBP1B (FKBP prolyl isomerase 1B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in frontal lobe adult (RPKM 19.1), CNS E18 (RPKM 18.2) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 A1.1; 12 2.09 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (4883174..4891736, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (4833176..4841573, complement)

Chromosome 12 - NC_000078.7 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?

Role of lateral amygdala calstabin2 in regulation of fear memory.
Title: Role of lateral amygdala calstabin2 in regulation of fear memory.
FKBP12.6 plays protective role in cardiac hypertrophy through inhibiting Ca(2+) /calmodulin-mediated signalling pathways.
Title: FKBP12.6 protects heart from AngII-induced hypertrophy through inhibiting Ca(2+) /calmodulin-mediated signalling pathways in vivo and in vitro.
The heart contraction is controlled by the Ca2+-induced Ca2+ release between L-type Ca2+ channels and ryanodine receptors. RyRs became more sensitive to Ca2+ triggers without FKBP12.6, leading to ventricular arrthymias.
Title: Sensitized signalling between L-type Ca2+ channels and ryanodine receptors in the absence or inhibition of FKBP12.6 in cardiomyocytes.
Calstabin2 as a key modulator of cardiac aging.
Title: Functional role of Calstabin2 in age-related cardiac alterations.
Sirolimus-FKBP12.6 impairs endothelial barrier function by activation of protein kinase C-alpha and downstream disruption of the p120-VE cadherin interaction in vascular endothelium.
Title: Sirolimus-FKBP12.6 impairs endothelial barrier function through protein kinase C-α activation and disruption of the p120-vascular endothelial cadherin interaction.
genetic approaches confirm the role of FKBP12.6 in regulating cardiac ryanodine receptors
Title: The role of FK506-binding proteins 12 and 12.6 in regulating cardiac function.
the impact of simulated ischemia and reperfusion on expression of the calcium handling proteins FKBP12 and FKBP12.6, and intracellular calcium dynamics was investigated.
Title: Impact of hypoxia, simulated ischemia and reperfusion in HL-1 cells on the expression of FKBP12/FKBP12.6 and intracellular calcium dynamics.
Transcription factor CHF1/Hey2 regulates EC coupling and heart failure in mice through regulation of FKBP12.6.
Title: Transcription factor CHF1/Hey2 regulates EC coupling and heart failure in mice through regulation of FKBP12.6.
Cardiac FKBP12.6 overexpression in the mouse blunts pressure overload-induced maladaptive left ventricular remodelling.
Title: Cardiac FKBP12.6 overexpression protects against triggered ventricular tachycardia in pressure overloaded mouse hearts.
FKBP12.6 removal enhanced, whereas RyR2 gene deletion blocked the hypoxic increase in Ca(2+)(i) in pulmonary artery smooth muscle cells.
Title: Hypoxia induces intracellular Ca2+ release by causing reactive oxygen species-mediated dissociation of FK506-binding protein 12.6 from ryanodine receptor 2 in pulmonary artery myocytes.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

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

Targeted (6) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF060872 (e-PCR)
- UniSTS:185924

AW494148 (e-PCR)
- UniSTS:180364

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables FK506 binding	IDA Inferred from Direct Assay more info	PubMed
enables FK506 binding	ISO Inferred from Sequence Orthology more info
enables calcium channel inhibitor activity	ISO Inferred from Sequence Orthology more info
enables cyclic nucleotide 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	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 peptidyl-prolyl cis-trans isomerase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphoprotein phosphatase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal action potential propagation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of axon regeneration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of sequestering of calcium ion	ISO Inferred from Sequence Orthology more info
involved_in protein peptidyl-prolyl isomerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein peptidyl-prolyl isomerization	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
NOT involved_in regulation of ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to redox state	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
part_of calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of calcium channel complex	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase FKBP1B

Names: 12.6 kDa FK506-binding protein; 12.6 kDa FKBP; FK506-binding protein 12.6; FK506-binding protein 1B; FKBP-12.6; FKBP-1B; PPIase FKBP1B; immunophilin FKBP12.6; rotamase

NP_001365745.1

EC 5.2.1.8

NP_001365746.1

EC 5.2.1.8

NP_001365747.1

EC 5.2.1.8

NP_058559.3

EC 5.2.1.8

XP_036013080.1

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_001378816.1 → NP_001365745.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform 2

Status: VALIDATED

Source sequence(s)

CT025683, CU468259

Conserved Domains (1) summary

pfam00254
Location:18 → 94

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001378817.1 → NP_001365746.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform 3

Status: VALIDATED

Source sequence(s)

CT025683, CU468259

UniProtKB/TrEMBL

Q80YE1

Related

ENSMUSP00000151687.2, ENSMUST00000219880.2
NM_001378818.1 → NP_001365747.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform 4

Status: VALIDATED

Source sequence(s)

CT025683, CU468259

Conserved Domains (1) summary

pfam00254
Location:6 → 47

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_016863.4 → NP_058559.3 peptidyl-prolyl cis-trans isomerase FKBP1B isoform 1

See identical proteins and their annotated locations for NP_058559.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

CT025683, CU468259

Consensus CDS

CCDS25792.1

UniProtKB/Swiss-Prot

Q9Z2I2

UniProtKB/TrEMBL

A9E3L2, Q810R7

Related

ENSMUSP00000020964.6, ENSMUST00000020964.7

Conserved Domains (1) summary

pfam00254
Location:13 → 105

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

RNA

NR_166125.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

CT025683, CU468259

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_000078.7 Reference GRCm39 C57BL/6J

Range

4883174..4891736 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157187.1 → XP_036013080.1 peptidyl-prolyl cis-trans isomerase FKBP1B isoform X1

Conserved Domains (1) summary

pfam00254
Location:18 → 94

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