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    Fxr1 fragile X mental retardation gene 1, autosomal homolog [ Mus musculus (house mouse) ]

    Gene ID: 14359, updated on 9-Sep-2018

    Summary

    Official Symbol
    Fxr1provided by MGI
    Official Full Name
    fragile X mental retardation gene 1, autosomal homologprovided by MGI
    Primary source
    MGI:MGI:104860
    See related
    Ensembl:ENSMUSG00000027680 Vega:OTTMUSG00000052173
    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
    Fxr1h; Fxr1p; AI851072; 1110050J02Rik; 9530073J07Rik
    Expression
    Broad expression in testis adult (RPKM 55.6), CNS E11.5 (RPKM 32.4) and 20 other tissues See more
    Orthologs

    Genomic context

    See Fxr1 in Genome Data Viewer
    Location:
    3; 3 A3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (34020058..34069980)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (33919001..33968267)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 46798 Neighboring gene calcium regulated heat stable protein 1 pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 Neighboring gene SET translocation pseudogene Neighboring gene predicted gene, 38505

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    • 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) ...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    G-quadruplex RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT G-quadruplex RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA strand annealing activity ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    translation regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of translation 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 translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of mRNA stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    costamere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic ribonucleoprotein granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dendritic spine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    polysome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    polysome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ribonucleoprotein granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fragile X mental retardation syndrome-related protein 1
    Names
    fragile X mental retardation gene, autosomal homolog

    NCBI Reference Sequences (RefSeq)

    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_001113188.1NP_001106659.1  fragile X mental retardation syndrome-related protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001106659.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as isoform e).
      Source sequence(s)
      AA080092, BE634703, CB196254, CJ086949, X90875
      Consensus CDS
      CCDS50891.1
      UniProtKB/Swiss-Prot
      Q61584
      Related
      ENSMUSP00000001620.8, OTTMUSP00000070202, ENSMUST00000001620.12, OTTMUST00000131174
      Conserved Domains (6) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286352
      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:62118
      Agenet; Agenet domain
      pfam12235
      Location:354465
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:491563
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      pfam16097
      Location:610676
      FXR_C3; Fragile X-related 1 protein C-terminal region 3
    2. NM_001113189.1NP_001106660.1  fragile X mental retardation syndrome-related protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001106660.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks alternate in-frame segments in both the mid-coding and 3' coding regions, compared to variant 1, resulting in a shorter protein (isoform 2, also known as isoform d), compared to isoform 1.
      Source sequence(s)
      BE634703, CF170707, CJ086949, X90875
      Consensus CDS
      CCDS79896.1
      UniProtKB/Swiss-Prot
      Q61584
      Related
      ENSMUSP00000142441.1, OTTMUSP00000070169, ENSMUST00000197694.4, OTTMUST00000131100
      Conserved Domains (6) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286352
      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:62118
      Agenet; Agenet domain
      pfam12235
      Location:354436
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:462535
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      pfam16097
      Location:554620
      FXR_C3; Fragile X-related 1 protein C-terminal region 3
    3. NM_008053.2NP_032079.1  fragile X mental retardation syndrome-related protein 1 isoform 3

      See identical proteins and their annotated locations for NP_032079.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, and lacks an alternate in-frame segment in the mid-coding region and two alternate exons in the 3' coding region, compared to variant 1. The resulting protein (isoform 3, also known as isoform a) contains a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BE634703, CJ086949, X90875
      Consensus CDS
      CCDS50890.1
      UniProtKB/Swiss-Prot
      Q61584
      Related
      ENSMUSP00000143392.1, OTTMUSP00000070170, ENSMUST00000200392.4, OTTMUST00000131101
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286352
      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:62118
      Agenet; Agenet domain
      pfam12235
      Location:354436
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:462535
      FXR_C1; Fragile X-related 1 protein C-terminal region 2

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

      Range
      34020058..34069980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535400.1XP_006535463.1  fragile X mental retardation syndrome-related protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006535463.1

      UniProtKB/Swiss-Prot
      Q61584
      Conserved Domains (6) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286352
      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:62118
      Agenet; Agenet domain
      pfam12235
      Location:354465
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:491564
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      pfam16097
      Location:583649
      FXR_C3; Fragile X-related 1 protein C-terminal region 3
    2. XM_006535402.1XP_006535465.1  fragile X mental retardation syndrome-related protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006535465.1

      UniProtKB/Swiss-Prot
      Q61584
      UniProtKB/TrEMBL
      A0A0G2JEP0
      Related
      ENSMUSP00000142847.1, OTTMUSP00000070168, ENSMUST00000198051.4, OTTMUST00000131099
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286352
      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:62118
      Agenet; Agenet domain
      pfam12235
      Location:354465
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:491564
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
    3. XM_006535401.1XP_006535464.1  fragile X mental retardation syndrome-related protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006535464.1

      UniProtKB/Swiss-Prot
      Q61584
      Conserved Domains (6) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      cd00105
      Location:286352
      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:62118
      Agenet; Agenet domain
      pfam12235
      Location:354436
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:462534
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      pfam16097
      Location:581647
      FXR_C3; Fragile X-related 1 protein C-terminal region 3
    4. XM_017319456.1XP_017174945.1  fragile X mental retardation syndrome-related protein 1 isoform X4

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