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

Gene ID: 14225, updated on 8-Feb-2024

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
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Genomic context

See Fkbp1a in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 52533 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:151353831-151354131 Neighboring gene STARR-positive B cell enhancer ABC_E11169 Neighboring gene STARR-positive B cell enhancer ABC_E5999 Neighboring gene predicted gene 14167 Neighboring gene predicted gene, 39959 Neighboring gene STARR-positive B cell enhancer ABC_E11170 Neighboring gene syndecan binding protein (syntenin) 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

Preferred Names
peptidyl-prolyl cis-trans isomerase FKBP1A
Names
FK506 binding protein 12
PPIase FKBP1A
calstabin-1
immunophilin FKBP12
NP_001289006.1
NP_001289007.1
NP_001289008.1
NP_001289009.1
NP_001342006.1
NP_001342007.1
NP_032045.1

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)

  1. NM_001302077.1NP_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:2106
    FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
  2. NM_001302078.1NP_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:71147
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  3. NM_001302079.1NP_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:25101
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  4. NM_001302080.1NP_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:25101
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  5. NM_001355077.1NP_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:71147
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  6. NM_001355078.1NP_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:176
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  7. NM_008019.3NP_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:2106
    FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]

RNA

  1. 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

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

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    151384403..151403611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)