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Fkbp1a Gene Detail
Summary
  • Symbol
    Fkbp1a
  • Name
    FK506 binding protein 1a
  • Synonyms
    Fkbp, Fkbp1, FKBP12
  • Feature Type
    protein coding gene
  • IDs
    MGI:95541
    NCBI Gene: 14225
  • Gene Overview
    MyGene.info: FKBP1A
Location & Maps
more
  • Sequence Map
    Chr2:151542483-151561692 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19210 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 74.83 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    FKBP1A, FK506 binding protein 1A
  • Vertebrate Orthologs
    11
  • Human Ortholog
    FKBP1A, FK506 binding protein 1A
    Orthology source: HomoloGene
  • Synonyms
    FKBP1, FKBP12, FKBP-12, FKBP-1A, PKC12, PKCI2, PPIASE
  • Links
    NCBI Gene ID: 2280
    neXtProt AC: NX_P62942

  • Chr Location
    20p13; chr20:1368977-1393172 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fkbp1a mouse models

Human Disease Mouse Models
       Barth Syndrome; BTHS   OMIM: 302060 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 4 alleles in 9 genetic backgrounds
    24 phenotypes from multigenic genotypes
    54 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    31
  • Chemically induced (other)
    1
  • Gene trapped
    15
  • Radiation induced
    1
  • Targeted
    8
  • Transgenic
    6
  • Genomic Mutations
    2 involving Fkbp1a
Mice homozygous for a null allele display embryonic and neonatal lethality and dilated cardiomyopathy associated with ventricular septal defects, myocardial noncompaction, a thin ventricular wall, hypertrophic trabeculae, and liver hemorrhage and necrosis; about 9% show neural tube closure defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015867 VEGA Gene Model | MGI Sequence Detail 19210 C57BL/6J ±  kb
transcript OTTMUST00000037714 VEGA | MGI Sequence Detail 1588 Not Applicable  
polypeptide OTTMUSP00000016918 VEGA | MGI Sequence Detail 161 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    25 from dbSNP Build 142
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000007536 peptidyl-prolyl cis-trans isomerase FKBP1A
  • EC
  • InterPro Domains
    IPR001179 FKBP-type peptidyl-prolyl cis-trans isomerase domain
    IPR023566 Peptidyl-prolyl cis-trans isomerase, FKBP-type
Molecular
Reagents
less
  • All nucleic 19
    Genomic 3
    cDNA 16

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-9808, MGD-MRK-9810
References
more
  • Summaries
    All 55
    Developmental Gene Expression 3
    Diseases 4
    Gene Ontology 15
    Phenotypes 54
  • Earliest
    J:11570 Nelson PA, et al., cDNA encoding murine FK506-binding protein (FKBP): nucleotide and deduced amino acid sequence. Gene. 1991 Dec 30;109(2):255-8
  • Latest
    J:195489 Chen H, et al., Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity. Development. 2013 May;140(9):1946-57

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory