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    Fmr1 fragile X mental retardation syndrome 1 [ Mus musculus (house mouse) ]

    Gene ID: 14265, updated on 4-Jun-2017
    Official Symbol
    Fmr1provided by MGI
    Official Full Name
    fragile X mental retardation syndrome 1provided by MGI
    Primary source
    MGI:MGI:95564
    See related
    Ensembl:ENSMUSG00000000838 Vega:OTTMUSG00000017748
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    FMRP; Fmr-1
    Orthologs
    Location:
    X A7.1; X 34.83 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (68678541..68717963)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (65931730..65971138)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene S-adenosylhomocysteine hydrolase pseudogene Neighboring gene fragile X mental retardation syndrome 1, opposite strand Neighboring gene fragile X mental retardation 1 neighbor Neighboring gene serine/threonine/tyrosine interaction protein pseudogene

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • Serotonin and anxiety, organism-specific biosystem (from WikiPathways)
      Serotonin and anxiety, organism-specific biosystemBenekareddy et al observed the phenomenon that rats who were maternally separated show increased levels of induced anxiety-related behaviour during adulthood. Type 2 serotonin receptors have been imp...
    • mRNA processing, organism-specific biosystem (from WikiPathways)
      mRNA processing, organism-specific biosystemAdapted from Reactome, see: [http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=REACT_1675.1 REACT 1675.1] This process describes the conversion of precursor messenger RNA into mature messenge...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    G-quadruplex RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA 7-methylguanosine cap binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA stem-loop binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA strand annealing activity ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    ion channel binding ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA 3'-UTR binding ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA 5'-UTR binding ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    miRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    poly(G) binding ISO
    Inferred from Sequence Orthology
    more info
     
    poly(U) RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
     
    ribosome binding ISO
    Inferred from Sequence Orthology
    more info
     
    sequence-specific mRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    siRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    translation initiation factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    translation repressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    translation repressor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to DNA damage stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to hydroxyurea IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to virus ISO
    Inferred from Sequence Orthology
    more info
     
    central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dendritic spine development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    gene silencing by RNA IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamate receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glutamate receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    modulation by host of viral RNA genome replication ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cytoplasmic translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of long term synaptic depression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mRNA catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of protein processing ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of synaptic vesicle exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of translational initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of dendritic spine development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of filopodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of gene silencing by miRNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene silencing by miRNA ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of histone phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of intracellular transport of viral material ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of mRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of response to DNA damage stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of translation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of alternative mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of dendritic spine development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of dendritic spine development ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of filopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of filopodium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of gene silencing by miRNA ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of mRNA stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of modification of synaptic structure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neuronal action potential ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of neurotransmitter secretion ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of translation at postsynapse, modulating synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Cajal body ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with SMN complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with SMN complex ISO
    Inferred from Sequence Orthology
    more info
     
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ISO
    Inferred from Sequence Orthology
    more info
     
    axon terminus ISO
    Inferred from Sequence Orthology
    more info
     
    axonal growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    cell body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    chromocenter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic stress granule ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic filopodium ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic shaft ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic spine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic spine head ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic spine neck ISO
    Inferred from Sequence Orthology
    more info
     
    extrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filopodium tip IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glial cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    growth cone filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA cap binding complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    messenger ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with microtubule ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    neuron projection ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    perikaryon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perikaryon ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    polysome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    polysome ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with polysome ISO
    Inferred from Sequence Orthology
    more info
     
    postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic density ISO
    Inferred from Sequence Orthology
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    presynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proximal dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
     
    rough endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    smooth endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    spine apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse ISO
    Inferred from Sequence Orthology
    more info
     
    terminal bouton ISO
    Inferred from Sequence Orthology
    more info
     
    viral replication complex ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    synaptic functional regulator FMR1; fragile X mental retardation protein 1 homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001290424.1NP_001277353.1  synaptic functional regulator FMR1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF461114, AK053829, BC079671
      Consensus CDS
      CCDS72385.1
      UniProtKB/TrEMBL
      E9QAT0, Q547R0, Q6AXB7, Q8BPK8
      Related
      ENSMUSP00000110301.1, OTTMUSP00000019321, ENSMUST00000114653.1, OTTMUST00000042970
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286325
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:419546
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:524589
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    2. NM_008031.3NP_032057.2  synaptic functional regulator FMR1 isoform 1

      See identical proteins and their annotated locations for NP_032057.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK053829, BC079671
      Consensus CDS
      CCDS30171.1
      UniProtKB/TrEMBL
      Q6AXB7, Q8BPK8
      Related
      ENSMUSP00000085906.5, OTTMUSP00000019318, ENSMUST00000088546.11, OTTMUST00000042964
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283323
      KH_1; KH domain
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:419571
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:549614
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

      Range
      68678541..68717963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527810.1XP_006527873.1  fragile X mental retardation protein 1 homolog isoform X1

      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286325
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:419559
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:537602
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    2. XM_006527811.1XP_006527874.1  fragile X mental retardation protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      E9QNF5
      Related
      ENSMUSP00000110305.2, OTTMUSP00000019320, ENSMUST00000114657.8, OTTMUST00000042969
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286325
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:398550
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:528593
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    3. XM_006527813.1XP_006527876.1  fragile X mental retardation protein 1 homolog isoform X3

      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286325
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:398538
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:516581
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    4. XM_006527814.1XP_006527877.1  fragile X mental retardation protein 1 homolog isoform X4

      Related
      ENSMUSP00000110302.1, OTTMUSP00000019322, ENSMUST00000114654.7, OTTMUST00000042971
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283323
      KH_1; KH domain
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:398525
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:503568
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2

    RNA

    1. XR_001782738.1 RNA Sequence

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