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

    Gene ID: 14359, updated on 5-Sep-2021

    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
    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
    Fxr; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Fxr1 in Genome Data Viewer
    Location:
    3; 3 A3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (34074133..34124129)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (34020058..34069980)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (33919001..33968267)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46833 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, 52623

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables G-quadruplex RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables G-quadruplex RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA strand annealing activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables translation regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle organ development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene silencing by miRNA ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of response to DNA damage stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of mRNA stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle organ development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal muscle organ development ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in costamere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasmic ribonucleoprotein granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in dendritic filopodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in dendritic spine neck IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of polysome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of polysome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in presynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in 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)

    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_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
      ENSMUSP00000001620.9, ENSMUST00000001620.13
      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
      ENSMUSP00000142441.2, ENSMUST00000197694.5
      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
      ENSMUSP00000143392.2, ENSMUST00000200392.5
      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 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      34074133..34124129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535400.2XP_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 (8) 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:62117
      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
      pfam17904
      Location:123207
      KH_9; FMRP KH0 domain
      pfam18336
      Location:452
      Tudor_FRX1; Fragile X mental retardation Tudor domain
    2. XM_006535402.2XP_006535465.1  fragile X mental retardation syndrome-related protein 1 isoform X4

      See identical proteins and their annotated locations for XP_006535465.1

      UniProtKB/Swiss-Prot
      Q61584
      UniProtKB/TrEMBL
      A0A0G2JEP0
      Related
      ENSMUSP00000142847.2, ENSMUST00000198051.5
      Conserved Domains (7) 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:62117
      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
      pfam17904
      Location:123207
      KH_9; FMRP KH0 domain
      pfam18336
      Location:452
      Tudor_FRX1; Fragile X mental retardation Tudor domain
    3. XM_006535401.2XP_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 (8) 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:62117
      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
      pfam17904
      Location:123207
      KH_9; FMRP KH0 domain
      pfam18336
      Location:452
      Tudor_FRX1; Fragile X mental retardation Tudor domain
    4. XM_036162897.1XP_036018790.1  fragile X mental retardation syndrome-related protein 1 isoform X6

      Conserved Domains (6) summary
      pfam12235
      Location:269380
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:406479
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      cd22504
      Location:38114
      KH_I_FXR1_rpt1; first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22507
      Location:133195
      KH_I_FXR1_rpt2; second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22510
      Location:196273
      KH_I_FXR1_rpt3; third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cl02573
      Location:141
      Tudor_SF; Tudor domain superfamily
    5. XM_036162895.1XP_036018788.1  fragile X mental retardation syndrome-related protein 1 isoform X3

      Conserved Domains (7) summary
      pfam12235
      Location:269380
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:406479
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      pfam16097
      Location:525591
      FXR_C3; Fragile X-related 1 protein C-terminal region 3
      cd22504
      Location:38114
      KH_I_FXR1_rpt1; first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22507
      Location:133195
      KH_I_FXR1_rpt2; second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22510
      Location:196273
      KH_I_FXR1_rpt3; third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cl02573
      Location:141
      Tudor_SF; Tudor domain superfamily
    6. XM_036162896.1XP_036018789.1  fragile X mental retardation syndrome-related protein 1 isoform X5

      Conserved Domains (7) summary
      pfam12235
      Location:269380
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:406479
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      pfam16097
      Location:498564
      FXR_C3; Fragile X-related 1 protein C-terminal region 3
      cd22504
      Location:38114
      KH_I_FXR1_rpt1; first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22507
      Location:133195
      KH_I_FXR1_rpt2; second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22510
      Location:196273
      KH_I_FXR1_rpt3; third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cl02573
      Location:141
      Tudor_SF; Tudor domain superfamily
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