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Fxr1 Gene Detail
Summary
  • Symbol
    Fxr1
  • Name
    FMR1 autosomal homolog 1
  • Synonyms
    1110050J02Rik, 9530073J07Rik, Fxr1h, Fxr1p
  • Feature Type
    protein coding gene
  • IDs
    MGI:104860
    NCBI Gene: 14359
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:34074133-34124129 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 16.41 cM, cytoband B
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1146 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104860
 protein coding gene Chr3:34074092-34124471 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027148
 protein coding gene Chr3:31664500-31717243 (+)
A/J MGP_AJ_G0027108
 protein coding gene Chr3:31179153-31229911 (+)
AKR/J MGP_AKRJ_G0027077
 protein coding gene Chr3:31702496-31754900 (+)
BALB/cJ MGP_BALBcJ_G0027120
 protein coding gene Chr3:30823256-30873803 (+)
C3H/HeJ MGP_C3HHeJ_G0026863
 protein coding gene Chr3:31748896-31802014 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027566
 protein coding gene Chr3:33239314-33299595 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024927
 protein coding gene Chr3:28948567-28998555 (+)
CAST/EiJ MGP_CASTEiJ_G0026316
 protein coding gene Chr3:31577740-31632118 (+)
CBA/J MGP_CBAJ_G0026840
 protein coding gene Chr3:34113719-34167671 (+)
DBA/2J MGP_DBA2J_G0026974
 protein coding gene Chr3:30654208-30704423 (+)
FVB/NJ MGP_FVBNJ_G0026942
 protein coding gene Chr3:30095883-30151833 (+)
LP/J MGP_LPJ_G0027086
 protein coding gene Chr3:32441565-32496814 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026962
 protein coding gene Chr3:36618875-36675788 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027625
 protein coding gene Chr3:31497093-31554620 (+)
PWK/PhJ MGP_PWKPhJ_G0026049
 protein coding gene Chr3:30205584-30256777 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025861
 protein coding gene Chr3:30897259-30948812 (+)
WSB/EiJ MGP_WSBEiJ_G0026390
 protein coding gene Chr3:31495452-31569147 (+)



Homology
more
  • Human Ortholog
    FXR1, FMR1 autosomal homolog 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FXR1, FMR1 autosomal homolog 1
  • Synonyms
    CMYO9A, CMYO9B, CMYP9A, CMYP9B, FXR1P, MYOPMIL, MYORIBF
  • Links
    NCBI Gene ID: 8087
    neXtProt AC: NX_P51114
    UniProt: P51114

  • Chr Location
    3q26.33; chr3:180868141-180982753 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human FXR1 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 3 alleles in 2 genetic backgrounds
    24 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.
Homozygous null mice display neonatal lethality with impaired muscle development. Mice homozygous for a hypomorphic allele display a reduced life span with impaired muscle development, growth retardation, and reduced grip strength.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    82
  • GO References
    18
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
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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
    882
  • Tissues
    59
  • cDNA Data
    16
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14359 NCBI Gene Model | MGI Sequence Detail 49997 C57BL/6J ±  kb
    transcript NM_001113188 RefSeq | MGI Sequence Detail 2934 C57BL/6  
    polypeptide Q61584 UniProt | EBI | MGI Sequence Detail 677 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000003390 RNA-binding protein FXR1
      (term hierarchy)
    • InterPro Domains
      IPR008395 Agenet-like domain
      IPR041560 FMR1, tudor domain
      IPR040148 Fragile X messenger ribonucleoprotein 1
      IPR022034 Fragile X messenger ribonucleoprotein 1-like, C-terminal core
      IPR032177 Fragile X-related 1 protein, C-terminal region 3
      IPR032172 Fragile X-related protein 1, C-terminal region 1
      IPR004087 K Homology domain
      IPR004088 K Homology domain, type 1
      IPR036612 K Homology domain, type 1 superfamily
      IPR047425 RNA-binding protein FXR1, first Tudor-like Agenet domain
      IPR047494 RNA-binding protein FXR1, first type I K homology domain
      IPR047427 RNA-binding protein FXR1, second Tudor-like Agenet domain
      IPR047495 RNA-binding protein FXR1, second type I K homology domain
      IPR047496 RNA-binding protein FXR2, third type I K homology domain
      IPR040472 Synaptic functional regulator FMRP, KH0 domain
    • GlyGen
      Q61584 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 18
      Primer pair 10
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-28157, MGI:1924160, MGI:1925815, MGI:2139822
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 13
      Diseases 1
      Gene Ontology 18
      Phenotypes 24
    • Earliest
      J:30134 Coy JF, et al., Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1. Hum Mol Genet. 1995 Dec;4(12):2209-18
    • Latest
      J:345103 Zhou GF, et al., ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2220148120
    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)
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory