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Fxr1 Gene Detail
Summary
  • Symbol
    Fxr1
  • Name
    fragile X mental retardation gene 1, autosomal homolog
  • Synonyms
    1110050J02Rik, 9530073J07Rik, Fxr1h, Fxr1p
  • Feature Type
    protein coding gene
  • IDs
    MGI:104860
    NCBI Gene: 14359
  • Gene Overview
    MyGene.info: FXR1
Location & Maps
more
  • Sequence Map
    Chr3:34019943-34070322 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50380 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FXR1, FMR1 autosomal homolog 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FXR1, FMR1 autosomal homolog 1
    Orthology source: HomoloGene
  • Synonyms
    FXR1P
  • Links
    NCBI Gene ID: 8087
    neXtProt AC: NX_P51114

  • Chr Location
    3q28; chr3:180912446-180982753 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3573
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: FXR1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 3 alleles in 2 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    375
  • Gene trapped
    368
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    1 involving Fxr1
  • Incidental Mutations
    APF , CvDC
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
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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 OTTMUSG00000052173 VEGA Gene Model | MGI Sequence Detail 50380 C57BL/6J ±  kb
transcript OTTMUST00000131174 VEGA | MGI Sequence Detail 2459 Not Applicable  
polypeptide OTTMUSP00000070202 VEGA | MGI Sequence Detail 677 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    368 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000003390 fragile X mental retardation syndrome-related protein 1
  • InterPro Domains
    IPR008395 Agenet-like domain
    IPR022034 Fragile X-related 1 protein, C-terminal core
    IPR032172 Fragile X-related 1 protein, C-terminal region 1
    IPR032177 Fragile X-related 1 protein, C-terminal region 3
    IPR004087 K Homology domain
    IPR004088 K Homology domain, type 1
Molecular
Reagents
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  • All nucleic 19
    cDNA 16
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-28157, MGI:1924160, MGI:1925815, MGI:2139822
References
more
  • Summaries
    All 51
    Developmental Gene Expression 8
    Gene Ontology 10
    Phenotypes 14
  • 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:228946 Wei N, et al., SRSF10 Plays a Role in Myoblast Differentiation and Glucose Production via Regulation of Alternative Splicing. Cell Rep. 2015 Nov 24;13(8):1647-57

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory