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    FXR1 FMR1 autosomal homolog 1 [ Homo sapiens (human) ]

    Gene ID: 8087, updated on 27-Nov-2024

    Summary

    Official Symbol
    FXR1provided by HGNC
    Official Full Name
    FMR1 autosomal homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:4023
    See related
    Ensembl:ENSG00000114416 MIM:600819; AllianceGenome:HGNC:4023
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FXR1P; CMYO9A; CMYO9B; CMYP9A; CMYP9B; MYOPMIL; MYORIBF
    Summary
    The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 27.2), ovary (RPKM 11.8) and 25 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:
    3q26.33
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (180912670..180982753)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (183714436..183784535)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180630458..180700541)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928882 Neighboring gene uncharacterized LOC105374240 Neighboring gene uncharacterized LOC124909466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:180629449-180630104 Neighboring gene Sharpr-MPRA regulatory region 7910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:180641841-180642341 Neighboring gene ribosomal protein L32 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14928 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 Neighboring gene VISTA enhancer hs192 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:180792991-180793622 Neighboring gene SOX2 overlapping transcript Neighboring gene RNA, U6 small nuclear 4, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Myopathy, congenital proximal, with minicore lesions
    MedGen: C5394193 OMIM: 618823 GeneReviews: Not available
    not available
    Myopathy, congenital, with respiratory insufficiency and bone fractures
    MedGen: C5394189 OMIM: 618822 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of fragile X mental retardation, autosomal homolog 1 (FXR1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Interaction of HIV-1 Gag with fragile X mental retardation, autosomal homolog 1 (FXR1) is identified in a series of six affinity purification/mass spectrometry screens PubMed
    Tat tat Fragile X mental retardation, autosomal homolog 1 (FXR1) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables RNA strand annealing activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 3'-UTR AU-rich region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular condensate scaffold activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribonucleoprotein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables translation regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in dentate gyrus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mRNA destabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mRNA transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in membraneless organelle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membraneless organelle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nuclear pore complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nuclear pore localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of long-term neuronal synaptic plasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of miRNA-mediated gene silencing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of circadian sleep/wake cycle, sleep ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mRNA stability IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic transmission, glutamatergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of translation at presynapse, modulating synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in costamere IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intracellular membraneless organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in intracellular membraneless organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ribosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RNA-binding protein FXR1
    Names
    FMR1 autosomal protein-like protein 1

    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_001013438.3NP_001013456.1  RNA-binding protein FXR1 isoform b

      See identical proteins and their annotated locations for NP_001013456.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC008009, AK225334, DC352767
      Consensus CDS
      CCDS46965.1
      UniProtKB/TrEMBL
      B4DM21
      Related
      ENSP00000388828.2, ENST00000445140.6
      Conserved Domains (7) summary
      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
      cd20472
      Location:357
      Tudor_Agenet_FXR1_rpt1; first Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd20475
      Location:61126
      Tudor_Agenet_FXR1_rpt2; second Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22504
      Location:123199
      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:218280
      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:281358
      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
    2. NM_001013439.3NP_001013457.1  RNA-binding protein FXR1 isoform c

      See identical proteins and their annotated locations for NP_001013457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC008009, AK292633, AU280585, DC352767
      Consensus CDS
      CCDS33894.1
      UniProtKB/TrEMBL
      B4DM78
      Related
      ENSP00000307633.7, ENST00000305586.11
      Conserved Domains (7) summary
      pfam12235
      Location:269351
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:377450
      FXR_C1; Fragile X-related 1 protein C-terminal region 2
      pfam16097
      Location:469535
      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
    3. NM_001363882.1NP_001350811.1  RNA-binding protein FXR1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC008009
      Consensus CDS
      CCDS87169.1
      UniProtKB/TrEMBL
      B4DGH9, E7EU85
      Related
      ENSP00000420515.1, ENST00000468861.5
      Conserved Domains (6) summary
      pfam12235
      Location:269351
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16096
      Location:377450
      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
    4. NM_005087.4NP_005078.2  RNA-binding protein FXR1 isoform a

      See identical proteins and their annotated locations for NP_005078.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC008009, AK292633, DC352767
      Consensus CDS
      CCDS3238.1
      UniProtKB/Swiss-Prot
      A8K9B8, P51114, Q7Z450, Q8N6R8
      UniProtKB/TrEMBL
      B4DXZ6
      Related
      ENSP00000350170.3, ENST00000357559.9
      Conserved Domains (8) summary
      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
      cd20472
      Location:357
      Tudor_Agenet_FXR1_rpt1; first Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd20475
      Location:61126
      Tudor_Agenet_FXR1_rpt2; second Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins
      cd22504
      Location:123199
      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:218280
      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:281358
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      180912670..180982753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      183714436..183784535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)