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    Fmr1 fragile X messenger ribonucleoprotein 1 [ Mus musculus (house mouse) ]

    Gene ID: 14265, updated on 17-Dec-2024

    Summary

    Official Symbol
    Fmr1provided by MGI
    Official Full Name
    fragile X messenger ribonucleoprotein 1provided by MGI
    Primary source
    MGI:MGI:95564
    See related
    Ensembl:ENSMUSG00000000838 AllianceGenome:MGI:95564
    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
    Summary
    Enables several functions, including N6-methyladenosine-containing RNA reader activity; RNA binding activity; and dynein complex binding activity. Involved in several processes, including chemical synaptic transmission; negative regulation of long-term synaptic depression; and post-transcriptional regulation of gene expression. Acts upstream of or within with a positive effect on miRNA-mediated post-transcriptional gene silencing. Acts upstream of or within central nervous system development and dendritic spine development. Located in several cellular components, including cytoplasmic ribonucleoprotein granule; filopodium; and perikaryon. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and presynaptic cytosol. Is expressed in several structures, including central nervous system; genitourinary system; liver; sensory organ; and spleen. Used to study autism spectrum disorder; fragile X syndrome; and fragile X-associated tremor/ataxia syndrome. Human ortholog(s) of this gene implicated in fragile X syndrome; fragile X-associated tremor/ataxia syndrome; and primary ovarian insufficiency 1. Orthologous to human FMR1 (fragile X messenger ribonucleoprotein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 14.2), limb E14.5 (RPKM 13.3) and 23 other tissues See more
    Orthologs
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    Genomic context

    See Fmr1 in Genome Data Viewer
    Location:
    X A7.1; X 34.83 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (67722144..67761569)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (68678536..68717963)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene S-adenosylhomocysteine hydrolase pseudogene Neighboring gene FMRP translational regulator 1, opposite strand Neighboring gene Fmr1 neighbor Neighboring gene STARR-seq mESC enhancer starr_47302 Neighboring gene serine/threonine/tyrosine interacting protein, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 54
    Function Evidence Code Pubs
    enables G-quadruplex RNA binding  
    enables G-quadruplex RNA binding  
    enables N6-methyladenosine-containing RNA reader activity PubMed 
    enables N6-methyladenosine-containing RNA reader activity  
    enables RNA 7-methylguanosine cap binding  
    enables RNA binding PubMed 
    enables RNA binding  
    enables RNA stem-loop binding  
    enables RNA stem-loop binding  
    enables RNA strand annealing activity  
    enables RNA strand annealing activity  
    enables chromatin binding PubMed 
    enables dynein complex binding PubMed 
    enables identical protein binding  
    enables mRNA 3'-UTR binding  
    enables mRNA 3'-UTR binding PubMed 
    enables mRNA 3'-UTR binding  
    enables mRNA 3'-UTR binding  
    enables mRNA 5'-UTR binding  
    enables mRNA 5'-UTR binding  
    enables mRNA binding PubMed 
    enables mRNA binding  
    enables mRNA binding  
    enables methylated histone binding  
    enables methylated histone binding  
    enables miRNA binding PubMed 
    enables miRNA binding  
    enables miRNA binding  
    enables microtubule binding PubMed 
    enables molecular condensate scaffold activity  
    enables molecular condensate scaffold activity  
    enables poly(G) binding  
    enables poly(G) binding  
    enables poly(U) RNA binding  
    enables poly(U) RNA binding  
    enables protein binding PubMed 
    enables protein domain specific binding  
    enables protein heterodimerization activity  
    enables protein heterodimerization activity  
    enables protein homodimerization activity  
    enables protein homodimerization activity  
    enables protein kinase binding  
    enables protein phosphatase binding  
    enables ribosome binding  
    enables sequence-specific mRNA binding  
    enables sequence-specific mRNA binding  
    enables siRNA binding  
    enables siRNA binding  
    enables signaling adaptor activity  
    enables translation initiation factor binding  
    enables translation regulator activity  
    enables translation repressor activity PubMed 
    enables translation repressor activity  
    enables transmembrane transporter binding  
    Items 1 - 25 of 54
    Items 1 - 25 of 81
    Process Evidence Code Pubs
    involved_in DNA repair PubMed 
    involved_in DNA repair  
    involved_in RNA splicing  
    involved_in animal organ development  
    involved_in cellular response to virus  
    acts_upstream_of_or_within central nervous system development PubMed 
    acts_upstream_of_or_within dendritic spine development PubMed 
    involved_in evoked excitatory postsynaptic potential  
    involved_in excitatory chemical synaptic transmission PubMed 
    involved_in glutamate receptor signaling pathway PubMed 
    involved_in glutamate receptor signaling pathway PubMed 
    involved_in glutamate receptor signaling pathway  
    involved_in glutamate receptor signaling pathway  
    involved_in inhibitory chemical synaptic transmission PubMed 
    involved_in intracellular glutamate homeostasis  
    involved_in locomotory exploration behavior  
    involved_in mRNA export from nucleus PubMed 
    involved_in mRNA export from nucleus  
    involved_in mRNA processing  
    involved_in mRNA transport  
    involved_in mRNA transport PubMed 
    involved_in membraneless organelle assembly  
    involved_in membraneless organelle assembly  
    acts_upstream_of_or_within_positive_effect miRNA-mediated post-transcriptional gene silencing PubMed 
    involved_in modulation by host of viral RNA genome replication  
    involved_in negative regulation of cytoplasmic translation PubMed 
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of gene expression  
    involved_in negative regulation of long-term synaptic depression PubMed 
    involved_in negative regulation of miRNA-mediated gene silencing  
    involved_in negative regulation of neuron apoptotic process  
    involved_in negative regulation of neuron differentiation  
    involved_in negative regulation of protein processing  
    involved_in negative regulation of receptor internalization  
    involved_in negative regulation of synaptic vesicle exocytosis  
    involved_in negative regulation of synaptic vesicle exocytosis  
    involved_in negative regulation of translation PubMed 
    involved_in negative regulation of translation PubMed 
    involved_in negative regulation of translation  
    involved_in negative regulation of translational initiation PubMed 
    involved_in negative regulation of voltage-gated calcium channel activity  
    involved_in positive regulation of dendritic spine development PubMed 
    involved_in positive regulation of filopodium assembly PubMed 
    involved_in positive regulation of gene expression  
    involved_in positive regulation of intracellular transport of viral material  
    involved_in positive regulation of long-term neuronal synaptic plasticity  
    involved_in positive regulation of long-term neuronal synaptic plasticity  
    involved_in positive regulation of long-term synaptic depression  
    involved_in positive regulation of long-term synaptic potentiation  
    involved_in positive regulation of miRNA-mediated gene silencing  
    involved_in positive regulation of miRNA-mediated gene silencing  
    involved_in positive regulation of proteasomal protein catabolic process PubMed 
    involved_in positive regulation of protein phosphorylation  
    involved_in positive regulation of receptor internalization  
    involved_in positive regulation of receptor internalization  
    involved_in positive regulation of synaptic transmission  
    involved_in positive regulation of translation  
    involved_in positive regulation of translation PubMed 
    involved_in positive regulation of translation  
    involved_in positive regulation of translation  
    involved_in regulation of alternative mRNA splicing, via spliceosome PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome  
    involved_in regulation of dendritic spine development PubMed 
    involved_in regulation of dendritic spine development  
    involved_in regulation of filopodium assembly PubMed 
    involved_in regulation of filopodium assembly  
    involved_in regulation of mRNA stability  
    involved_in regulation of mRNA stability PubMed 
    involved_in regulation of neuronal action potential  
    involved_in regulation of neuronal action potential  
    involved_in regulation of neurotransmitter secretion  
    involved_in regulation of neurotransmitter secretion  
    involved_in regulation of translation at postsynapse, modulating synaptic transmission PubMed 
    involved_in regulation of translation at postsynapse, modulating synaptic transmission PubMed 
    involved_in regulation of translation at presynapse, modulating synaptic transmission  
    involved_in regulation of translation at presynapse, modulating synaptic transmission  
    involved_in response to interleukin-17 PubMed 
    involved_in social behavior PubMed 
    involved_in stress granule assembly  
    involved_in stress granule assembly  
    involved_in transmission of nerve impulse PubMed 
    Items 1 - 25 of 81
    Items 1 - 20 of 80
    Component Evidence Code Pubs
    located_in Cajal body  
    part_of SMN complex  
    is_active_in Schaffer collateral - CA1 synapse PubMed 
    is_active_in Schaffer collateral - CA1 synapse PubMed 
    is_active_in Schaffer collateral - CA1 synapse  
    located_in axon PubMed 
    located_in axon  
    located_in axon terminus  
    located_in axon terminus  
    located_in cell body PubMed 
    located_in cell projection  
    located_in chromocenter PubMed 
    located_in chromosome PubMed 
    located_in chromosome, centromeric region  
    located_in cytoplasm PubMed 
    is_active_in cytoplasm  
    located_in cytoplasm  
    located_in cytoplasmic ribonucleoprotein granule PubMed 
    located_in cytoplasmic ribonucleoprotein granule  
    is_active_in cytoplasmic stress granule  
    located_in cytoplasmic stress granule PubMed 
    is_active_in cytoplasmic stress granule  
    located_in cytoplasmic stress granule  
    located_in cytosol  
    located_in dendrite PubMed 
    located_in dendrite  
    located_in dendritic filopodium PubMed 
    located_in dendritic filopodium  
    located_in dendritic filopodium  
    located_in dendritic spine PubMed 
    located_in dendritic spine  
    located_in dendritic spine  
    located_in dendritic spine head  
    located_in dendritic spine neck  
    located_in filopodium tip PubMed 
    located_in glial cell projection  
    located_in glial cell projection  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse  
    located_in growth cone  
    located_in growth cone  
    located_in growth cone filopodium PubMed 
    is_active_in hippocampal mossy fiber to CA3 synapse PubMed 
    is_active_in intracellular membraneless organelle  
    located_in microtubule cytoskeleton PubMed 
    is_active_in neuron projection  
    located_in neuron projection  
    located_in neuronal cell body  
    located_in neuronal ribonucleoprotein granule PubMed 
    is_active_in neuronal ribonucleoprotein granule  
    located_in neuronal ribonucleoprotein granule PubMed 
    located_in nucleolus  
    located_in nucleolus  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    is_active_in nucleus PubMed 
    located_in nucleus PubMed 
    is_active_in nucleus  
    located_in nucleus  
    located_in perikaryon PubMed 
    located_in perikaryon  
    located_in perikaryon  
    located_in perinuclear region of cytoplasm PubMed 
    located_in perinuclear region of cytoplasm  
    located_in perinuclear region of cytoplasm  
    located_in postsynapse PubMed 
    is_active_in postsynaptic cytosol  
    located_in postsynaptic density  
    located_in postsynaptic density  
    located_in postsynaptic membrane  
    located_in presynapse PubMed 
    is_active_in presynaptic cytosol PubMed 
    located_in presynaptic membrane  
    located_in proximal dendrite  
    part_of ribonucleoprotein complex  
    part_of ribonucleoprotein complex  
    located_in spine apparatus  
    located_in synapse PubMed 
    located_in terminal bouton  
    Items 1 - 20 of 80

    General protein information

    Preferred Names
    fragile X messenger ribonucleoprotein 1
    Names
    FMRP translational regulator 1
    synaptic functional regulator FMR1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001290424.2NP_001277353.1  fragile X messenger ribonucleoprotein 1 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)
      AC055766
      Consensus CDS
      CCDS72385.1
      UniProtKB/TrEMBL
      E9QAT0, Q547R0
      Related
      ENSMUSP00000110301.2, ENSMUST00000114653.2
      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_001374719.1NP_001361648.1  fragile X messenger ribonucleoprotein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC055766
      Consensus CDS
      CCDS90720.1
      UniProtKB/TrEMBL
      D3Z6U8, E9QNF5
      Related
      ENSMUSP00000110305.3, ENSMUST00000114657.9
      Conserved Domains (6) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:285332
      KH_1; KH domain
      pfam12235
      Location:398501
      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
      pfam17904
      Location:123207
      KH_9; FMRP KH0 domain
      pfam18336
      Location:452
      Tudor_FRX1; Fragile X mental retardation Tudor domain
    3. NM_001412089.1NP_001399018.1  fragile X messenger ribonucleoprotein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC055766
      UniProtKB/Swiss-Prot
      P35922
    4. NM_001412090.1NP_001399019.1  fragile X messenger ribonucleoprotein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC055766
      UniProtKB/TrEMBL
      D3Z6U8
    5. NM_001412091.1NP_001399020.1  fragile X messenger ribonucleoprotein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC055766
      UniProtKB/TrEMBL
      D3Z6U8
      Related
      ENSMUSP00000110302.2, ENSMUST00000114654.8
    6. NM_008031.4NP_032057.2  fragile X messenger ribonucleoprotein 1 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)
      AC055766
      Consensus CDS
      CCDS30171.1
      UniProtKB/Swiss-Prot
      P35922
      UniProtKB/TrEMBL
      Q6AXB7
      Related
      ENSMUSP00000085906.6, ENSMUST00000088546.12
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      67722144..67761569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001782738.3 RNA Sequence

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