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    FMR1 fragile X messenger ribonucleoprotein 1 [ Homo sapiens (human) ]

    Gene ID: 2332, updated on 5-May-2024

    Summary

    Official Symbol
    FMR1provided by HGNC
    Official Full Name
    fragile X messenger ribonucleoprotein 1provided by HGNC
    Primary source
    HGNC:HGNC:3775
    See related
    Ensembl:ENSG00000102081 MIM:309550; AllianceGenome:HGNC:3775
    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
    POF; FMRP; POF1; FRAXA
    Summary
    The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.8), brain (RPKM 15.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    Xq27.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (147911919..147951125)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (146176547..146215797)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (146993437..147032645)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373349 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:146965512-146965690 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:146980170-146980670 Neighboring gene origin of replication in 5' region of FMR1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30007 Neighboring gene FMR1 antisense RNA 1 Neighboring gene fragile site, folic acid type, rare, fra(X)(q27.3) A Neighboring gene FMR1 neighbor Neighboring gene RNA, 5S ribosomal pseudogene 524 Neighboring gene ferritin heavy chain 1 pseudogene 8

    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
    Fragile X syndrome
    MedGen: C0016667 OMIM: 300624 GeneReviews: FMR1 Disorders
    Compare labs
    Fragile X-associated tremor/ataxia syndrome Compare labs
    Premature ovarian failure 1
    MedGen: C4552079 OMIM: 311360 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-12-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag interacts with endogenous fragile X mental retardation protein (FMRP) in an RNase-resistant manner and the NC domain in Gag plays an important role in this interaction PubMed
    capsid gag FMRP is incorporated into HIV-1 particles through association with viral RNP complex including NC, CA, and RT PubMed
    nucleocapsid gag FMRP is incorporated into HIV-1 particles through association with viral RNP complex including NC, CA, and RT PubMed
    gag HIV-1 Gag interacts with endogenous fragile X mental retardation protein (FMRP) in an RNase-resistant manner and the NC domain in Gag plays an important role in this interaction PubMed
    reverse transcriptase gag-pol FMRP is incorporated into HIV-1 particles through association with viral RNP complex including NC, CA, and RT 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

    Clone Names

    • MGC87458

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-quadruplex RNA binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables G-quadruplex RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables N6-methyladenosine-containing RNA reader activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 stem-loop binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA strand annealing activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    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 mRNA 5'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables molecular condensate scaffold activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular condensate scaffold activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables poly(G) binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables poly(U) RNA binding IDA
    Inferred from Direct Assay
    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 ribosome binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables siRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables translation initiation factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables translation regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables translation repressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glutamate receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mRNA transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in modulation by host of viral RNA genome replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cytoplasmic translation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of long-term synaptic depression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of miRNA-mediated gene silencing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of synaptic vesicle exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of translational initiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-membrane-bounded organelle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of dendritic spine development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of intracellular transport of viral material IMP
    Inferred from Mutant Phenotype
    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 proteasomal protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of receptor internalization 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 alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of dendritic spine development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of filopodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of mRNA stability IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of mRNA stability ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuronal action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of neurotransmitter secretion 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 regulatory ncRNA-mediated gene silencing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stress granule assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
     
    part_of SMN complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon terminus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromocenter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_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
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in filopodium tip ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in glial cell projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in growth cone filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in intracellular non-membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuronal ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal ribonucleoprotein granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    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.

    Genomic

    1. NG_007529.2 RefSeqGene

      Range
      4961..44137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_762

    mRNA and Protein(s)

    1. NM_001185075.2NP_001172004.1  fragile X messenger ribonucleoprotein 1 isoform ISO6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ISO6) lacks an alternate segment and uses a different splice site in the 3' coding region which shifts the reading frame, compared to variant ISO1. The resulting protein (isoform ISO6) has a shorter and distinct C-terminus when it is compared to isoform ISO1.
      Source sequence(s)
      BC086957, BQ213316, BX498094, CK825936, L29074
      Consensus CDS
      CCDS55518.1
      UniProtKB/Swiss-Prot
      Q06787
      Related
      ENSP00000359502.3, ENST00000370471.7
      Conserved Domains (3) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283325
      KH_1; KH domain
      pfam05641
      Location:63120
      Agenet; Agenet domain
    2. NM_001185076.2NP_001172005.1  fragile X messenger ribonucleoprotein 1 isoform ISO7

      See identical proteins and their annotated locations for NP_001172005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ISO7) lacks an alternate segment, compared to variant ISO1. The resulting protein (isoform ISO7) is shorter when it is compared to isoform ISO1.
      Source sequence(s)
      BC086957, BQ213316, BQ417290, CN315330, CX871385, L29074
      Consensus CDS
      CCDS55519.1
      UniProtKB/TrEMBL
      A0A8I5KS01
      Related
      ENSP00000218200.8, ENST00000218200.12
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283325
      KH_1; KH domain
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:399551
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:529611
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    3. NM_001185081.2NP_001172010.1  fragile X messenger ribonucleoprotein 1 isoform ISO12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ISO12) lacks two alternate segments and uses a different splice site which changes the reading frame, compared to variant ISO1. The resulting protein (isoform ISO12) has a shorter and distinct C-terminus when it is compared to isoform ISO1.
      Source sequence(s)
      BC086957, BQ213316, BQ287827, CK825936, L29074
      UniProtKB/Swiss-Prot
      Q06787
      Conserved Domains (3) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283325
      KH_1; KH domain
      pfam05641
      Location:63120
      Agenet; Agenet domain
    4. NM_001185082.2NP_001172011.1  fragile X messenger ribonucleoprotein 1 isoform ISO9

      See identical proteins and their annotated locations for NP_001172011.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ISO9) lacks an alternate segment and uses a different splice site in the 3' coding region, compared to variant ISO1. The resulting protein (isoform ISO9) is shorter when it is compared to isoform ISO1.
      Source sequence(s)
      BC086957, L29074
      Consensus CDS
      CCDS76039.1
      UniProtKB/TrEMBL
      A0A8I5KS01
      Related
      ENSP00000413764.3, ENST00000440235.6
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283325
      KH_1; KH domain
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:399526
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:504586
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    5. NM_002024.6NP_002015.1  fragile X messenger ribonucleoprotein 1 isoform ISO1

      See identical proteins and their annotated locations for NP_002015.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ISO1) represents the longest transcript and it encodes the longest protein (isoform ISO1).
      Source sequence(s)
      KJ534837, L29074
      Consensus CDS
      CCDS14682.1
      UniProtKB/Swiss-Prot
      A6NNH4, D3DWT0, D3DWT1, D3DWT2, G8JL90, Q06787, Q16578, Q5PQZ6, Q99054
      UniProtKB/TrEMBL
      X5DQX7
      Related
      ENSP00000359506.5, ENST00000370475.9
      Conserved Domains (5) summary
      smart00322
      Location:221280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283325
      KH_1; KH domain
      pfam05641
      Location:63120
      Agenet; Agenet domain
      pfam12235
      Location:420572
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:550632
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2

    RNA

    1. NR_033699.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ISO4) lacks an alternate segment, compared to variant ISO1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant ISO1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC086957, BQ213316, BX498094, CK825936, L29074
    2. NR_033700.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ISO10) lacks two alternate segments, compared to variant ISO1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant ISO1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC086957, BQ213316, CK825936, L29074
      Related
      ENST00000693452.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      147911919..147951125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      146176547..146215797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)