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FLASH GENE
Symbol FXR1 contributors: mct/npt - updated : 23-06-2015
HGNC name fragile X mental retardation, autosomal homolog 1
HGNC id 4023
Location 3q26.33      Physical location : 180.630.233 - 180.700.537
Synonym name fragile X mental retardation-related protein 1
Synonym symbol(s) FXR1P
DNA
TYPE functioning gene
STRUCTURE 64.50 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
WIG1 3q26.3-q27 SRY (sex determining region Y)-box 2 PIK3CA 3q26.3 phosphoinositide-3-kinase, catalytic, alpha polypeptide KCNMB3 3q26.3-q27.1 potassium large conductance calcium-activated channel, subfamily M beta member 3 ANC_2H01 3q27.1 zinc finger protein ANC_2H01 MFN1 3q27.1 mitofusin 1 GNB4 21q22.3 guanine nucleotide binding protein (G protein), beta polypeptide 4 BAF53A 3q27.1 guanine nucleotide binding protein (G protein), beta polypeptide 4 MRPL47 3q27.1 mitochondrial ribosomal protein L47 NDUFB5 3q27.1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa USP13 3q26.2-q26.3 ubiquitin specific protease 13 (isopeptidase T-3) PEX5R 3q27.1 Pex5p-related protein LOC391593 3 similar to Glyceraldehyde 3-phosphate dehydrogenase (GAPDH) (38 kDa BFA-dependent ADP-ribosylation substrate) (BARS-38) LOC131054 3q27.2 similar to RalA binding protein 1 (RalBP1) (Ral interacting protein 1) (76-kDa Ral-interacting protein) (Dinitrophenyl S-glutathione ATPase) (DNP-SG ATPase) TTC14 3q27.2 tetratricopeptide repeat domain 14 DKFZp434A128 3q27.2 hypothetical protein DKFZp434A128 LOC389178 3 similar to RING finger protein 13 LOC391594 3 similar to KIAA1552 protein LOC391595 3 similar to 60S ribosomal protein L32 FXR1 3q28 fragile X mental retardation, autosomal homolog 1 LOC131118 LOC391596 3 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) SOX2 3q26.3-q27 SRY (sex determining region Y)-box 2 LOC391597 3 similar to ribosomal protein L7-like 1 ATP11B 3q27 ATPase, Class VI, type 11B
RNA
TRANSCRIPTS type messenger
text with several alternatively spliced isoforms (Kirkpatrick)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 2682 - 539 - Darnell (2009)
17 - 2774 - 621 - Darnell (2009)
18 - 3118 - 536 - Darnell (2009)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Reproductivemale systemtestis   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text brain, testis
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two K homology (KH) domain, and KH2 domains bind kissing complex RNA ligands with the same affinity as the FMR1 KH2 domain although other KH domains do not (Darnell 2009)
  • one RGG motif
  • a nuclear export signal (NES) and a nuclear targeting signal
  • a nuclear localization signals of FXR1 and also FXR2 with tandem Tudor domain architectures, closely resembling that of UHRF1, which is proposed to bind methylated histone H3K9
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    intraspecies homolog to FMR1,FXR2 (see symbols)
    Homologene
    FAMILY
  • FMR1 family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • putative target for the autoimmune response
  • plays an important role in normal muscle development, and its absence causes muscular abnormalities in mice
  • role of FXR1 that has crucial implications for the understanding of its role during myogenesis and muscle development
  • plays an important role in normal muscle development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimerizing and heterodimerizing with FMR1 and FXR2
  • INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • DSP and TLN2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle
  • DSP and TLN2 mRNAs associate with FXR1 in a complex
  • functional association between LMNA and fragile X-related protein 1 (FXR1)
  • 10 FXR1-interacting proteins including Bcl-2-associated transcription factor 1 (BCLAF1)
  • binding of PKP1/3 to FXR1 was RNA independent, and both PKP3 and FXR1 stabilized PKP2 mRNA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    altered expression in FSHMD1A myoblasts may contribute to the physiopathology of this disease (Davidovic 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS