Fkbp1a FK506 binding protein 1a [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fkbp1aprovided by MGI
Official Full Name: FK506 binding protein 1aprovided by MGI
Primary source: MGI:MGI:95541
See related: Ensembl:ENSMUSG00000032966 AllianceGenome:MGI:95541
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fkbp; Fkbp1; FKBP12
Summary: This gene is a member of the immunophilin family. The encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, and is associated with immunoregulation, protein folding, receptor signaling, protein trafficking and T-cell activation. It may modulate the calcium release activity of the ryanodine receptor Ryr1. It also interacts with the type I TGF-beta receptor. Disruption of this gene in mouse causes severe ventricular defects. Pseudogenes of this gene have been defined on chromosomes 4, 10, 14, and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Expression: Ubiquitous expression in cortex adult (RPKM 90.0), frontal lobe adult (RPKM 82.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 74.83 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (151384403..151403611)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (151542483..151561691)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

FKBP12 inhibits hepcidin expression by modulating BMP receptors interaction and ligand responsiveness in hepatocytes.
Title: FKBP12 inhibits hepcidin expression by modulating BMP receptors interaction and ligand responsiveness in hepatocytes.
FKBP12: A partner of Snx10 required for vesicular trafficking in osteoclasts.
Title: FKBP12: A partner of Snx10 required for vesicular trafficking in osteoclasts.
cardiomyocyte-restricted overexpression of FKBP12 reduces the atrial Nav1.5 expression level and mean peak INa, which is associated with increased peak L-type Ca(2+) current and interstitial fibrosis in atria. The combined electrophysiological and structural changes facilitated the development of local conduction block and altered action potential duration and spontaneous AF.
Title: Atrial fibrillation and electrophysiology in transgenic mice with cardiac-restricted overexpression of FKBP12.
Acute tacrolimus treatment transiently increases hepcidin in wild-type mice. FKBP12 preferentially targets the BMP receptor ALK2. ALK2 mutants defective in binding FKBP12 increase hepcidin expression in a ligand-independent manner, through BMP-SMAD signaling.
Title: The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.
FKBP51 is a central mediator of chronic pain.
Title: The stress regulator FKBP51 drives chronic pain by modulating spinal glucocorticoid signaling.
We demonstrate that FKBP12 and its ligands impact multiple aspects of muscle function.
Title: Ligands for FKBP12 increase Ca2+ influx and protein synthesis to improve skeletal muscle function.
Fkbp1a-mediated regulation of Notch1 plays an important role in intercellular communication between endocardium and myocardium.
Title: Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity.
FKBP12 is critically important in regulating trans-sarcolemmal ionic currents, predominately the voltage-gated Na+ current, I Na
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.
Data show that deletion of FKBP12 increased transforming growth factor-beta receptor activation and SMAD2/3 signaling.
Title: FK506 binding protein 12 deficiency in endothelial and hematopoietic cells decreases regulatory T cells and causes hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

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

Targeted (4) 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

Fkbp-rs2 (e-PCR), detects polymorphism
- UniSTS:143113

RH141052 (e-PCR)
- UniSTS:223052

SHGC-32807 (e-PCR)
- UniSTS:167679

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	PubMed
enables Hsp70 protein binding	ISO Inferred from Sequence Orthology more info
enables I-SMAD binding	ISO Inferred from Sequence Orthology more info
enables activin receptor binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor inhibitor activity	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables type I transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info

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 cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart trabecula formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein peptidyl-prolyl isomerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay 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 caffeine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in axon terminus	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 cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
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
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase FKBP1A

Names: FK506 binding protein 12; PPIase FKBP1A; calstabin-1; immunophilin FKBP12

NP_001289006.1

EC 5.2.1.8

NP_001289007.1

EC 5.2.1.8

NP_001289008.1

EC 5.2.1.8

NP_001289009.1

EC 5.2.1.8

NP_001342006.1

EC 5.2.1.8

NP_001342007.1

EC 5.2.1.8

NP_032045.1

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_001302077.1 → NP_001289006.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform 1

See identical proteins and their annotated locations for NP_001289006.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (1).

Source sequence(s)

AK169242, BE945323, BY065108, BY108774, CJ081656

Consensus CDS

CCDS16869.1

UniProtKB/Swiss-Prot

P26883, Q545E9

UniProtKB/TrEMBL

Q3ULN5

Conserved Domains (1) summary

COG0545
Location:2 → 106

FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
NM_001302078.1 → NP_001289007.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform 2

See identical proteins and their annotated locations for NP_001289007.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon in the 5' region and uses an alternate start codon compared to variant 1. It encodes isoform 2 which has a distinct N-terminus and is longer than isoform 1. Variants 4 and 7 both encode the same isoform (2).

Source sequence(s)

AB241120, AK169242, BE945323, BY065108, BY108774, CJ081656

UniProtKB/TrEMBL

F6X9I3, Q3UKJ3

Related

ENSMUSP00000118725.2, ENSMUST00000142271.2

Conserved Domains (1) summary

pfam00254
Location:71 → 147

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001302079.1 → NP_001289008.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform 3

See identical proteins and their annotated locations for NP_001289008.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate exon in the 5' region and uses an alternate start codon compared to variant 1. It encodes isoform 3 which has a distinct N-terminus and is shorter than isoform 1. Variants 5 and 6 both encode the same isoform (3).

Source sequence(s)

AB241121, AK169242, BE945323, BY065108, BY108774, CJ081656

UniProtKB/Swiss-Prot

P26883

UniProtKB/TrEMBL

Q1JUQ7

Conserved Domains (1) summary

pfam00254
Location:25 → 101

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001302080.1 → NP_001289009.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform 3

See identical proteins and their annotated locations for NP_001289009.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains an alternate exon in the 5' region, uses an alternate start codon, and differs in the 3' UTR compared to variant 1. It encodes isoform 3 which has a distinct N-terminus and is shorter than isoform 1. Variants 5 and 6 both encode the same isoform (3).

Source sequence(s)

AK169242, BE945323, BY065108, BY108774, CJ081656, CX239711

UniProtKB/Swiss-Prot

P26883

Conserved Domains (1) summary

pfam00254
Location:25 → 101

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001355077.1 → NP_001342006.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 4, encodes isoform 2.

Source sequence(s)

AL928719

UniProtKB/TrEMBL

F6X9I3, Q3UKJ3

Conserved Domains (1) summary

pfam00254
Location:71 → 147

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_001355078.1 → NP_001342007.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform 4

Status: REVIEWED

Source sequence(s)

AL928719

UniProtKB/TrEMBL

Q3UBA0

Conserved Domains (1) summary

pfam00254
Location:1 → 76

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
NM_008019.3 → NP_032045.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform 1

See identical proteins and their annotated locations for NP_032045.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 both encode the same isoform (1).

Source sequence(s)

AK169242, BE945323, BY065108, BY108774, CJ081656

Consensus CDS

CCDS16869.1

UniProtKB/Swiss-Prot

P26883, Q545E9

UniProtKB/TrEMBL

Q3ULN5

Related

ENSMUSP00000037206.6, ENSMUST00000044011.12

Conserved Domains (1) summary

COG0545
Location:2 → 106

FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

RNA

NR_126058.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB241122, AK169242, BE945323, BY065108, BY108774, CJ081656, CX239711