About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:151384403-151403611 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 74.83 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    428 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95541
 protein coding gene Chr2:151384403-151403612 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026640
 protein coding gene Chr2:156028068-156047270 (+)
A/J MGP_AJ_G0026606
 protein coding gene Chr2:149819122-149838331 (+)
AKR/J MGP_AKRJ_G0026576
 protein coding gene Chr2:154192594-154211803 (+)
BALB/cJ MGP_BALBcJ_G0026615
 protein coding gene Chr2:150133333-150152542 (+)
C3H/HeJ MGP_C3HHeJ_G0026358
 protein coding gene Chr2:154580040-154599236 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027064
 protein coding gene Chr2:160581790-160600995 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024435
 protein coding gene Chr2:143434625-143454763 (+)
CAST/EiJ MGP_CASTEiJ_G0025819
 protein coding gene Chr2:154800482-154821282 (+)
CBA/J MGP_CBAJ_G0026336
 protein coding gene Chr2:166460872-166480081 (+)
DBA/2J MGP_DBA2J_G0026472
 protein coding gene Chr2:149033419-149052628 (+)
FVB/NJ MGP_FVBNJ_G0026437
 protein coding gene Chr2:147483162-147502363 (+)
LP/J MGP_LPJ_G0026576
 protein coding gene Chr2:156196954-156216158 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026459
 protein coding gene Chr2:170620348-170639465 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027119
 protein coding gene Chr2:154062338-154081540 (+)
PWK/PhJ MGP_PWKPhJ_G0025553
 protein coding gene Chr2:148562890-148582951 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025356
 protein coding gene Chr2:152899709-152922040 (+)
WSB/EiJ MGP_WSBEiJ_G0025891
 protein coding gene Chr2:154981795-155002023 (+)



Homology
more
  • Human Ortholog
    FKBP1A, FKBP prolyl isomerase 1A
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FKBP1A, FKBP prolyl isomerase 1A
  • Synonyms
    FKBP1, FKBP-12, FKBP12, FKBP-1A, PKC12, PKCI2, PPIASE
  • Links
    NCBI Gene ID: 2280
    neXtProt AC: NX_P62942
    UniProt: P62942

  • Chr Location
    20p13; chr20:1368977-1393164 (-)  GRCh38
  • Human Ortholog
    FKBP1C, FKBP prolyl isomerase family member 1C
  • Links
    NCBI Gene ID: 642489
    UniProt: Q5VVH2

  • Chr Location
    6q12
Human Diseases
more
  • Diseases
    1 with Fkbp1a mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 4 alleles in 9 genetic backgrounds
    3 phenotypes from multigenic genotypes
    30 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.
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
less
  • All GO Annotations
    48
  • GO References
    19
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    828
  • Tissues
    19
  • cDNA Data
    17
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14225 NCBI Gene Model | MGI Sequence Detail 19209 C57BL/6J ±  kb
    transcript NM_001302078 RefSeq | MGI Sequence Detail 1902 C57BL/6  
    polypeptide P26883 UniProt | EBI | MGI Sequence Detail 108 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      Genomic 3
      cDNA 18

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-9808, MGD-MRK-9810
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 19
      Phenotypes 30
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:340280 Lee CS, et al., Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads. Commun Biol. 2023 Sep 14;6(1):942
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory