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

    Gene ID: 2332, updated on 4-Jan-2025

    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
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    Try the new Transcript table

    Genomic context

    See FMR1 in Genome Data Viewer
    Location:
    Xq27.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (147911919..147951125)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (146176547..146215797)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/890 screens)

    Associated conditions

    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

    General gene information

    Clone Names

    • MGC87458

    Gene Ontology Provided by GOA

    Items 1 - 25 of 35
    Function Evidence Code Pubs
    enables G-quadruplex RNA binding PubMed 
    enables G-quadruplex RNA binding PubMed 
    enables N6-methyladenosine-containing RNA reader activity PubMed 
    enables RNA binding PubMed 
    enables RNA binding PubMed 
    enables RNA binding PubMed 
    enables RNA stem-loop binding PubMed 
    enables RNA strand annealing activity PubMed 
    enables chromatin binding  
    enables dynein complex binding  
    enables identical protein binding PubMed 
    enables identical protein binding PubMed 
    enables mRNA 3'-UTR binding  
    enables mRNA 3'-UTR binding PubMed 
    enables mRNA 5'-UTR binding PubMed 
    enables mRNA binding PubMed 
    enables methylated histone binding PubMed 
    enables miRNA binding PubMed 
    enables microtubule binding  
    enables molecular condensate scaffold activity PubMed 
    enables molecular condensate scaffold activity PubMed 
    enables molecular condensate scaffold activity PubMed 
    enables poly(G) binding PubMed 
    enables poly(U) RNA binding PubMed 
    enables protein binding PubMed 
    enables protein heterodimerization activity PubMed 
    enables protein homodimerization activity PubMed 
    enables ribosome binding PubMed 
    enables sequence-specific mRNA binding PubMed 
    enables siRNA binding PubMed 
    enables signaling adaptor activity PubMed 
    enables translation initiation factor binding PubMed 
    enables translation regulator activity  
    enables translation repressor activity PubMed 
    enables transmembrane transporter binding PubMed 
    Items 1 - 25 of 35
    Items 1 - 25 of 38
    Process Evidence Code Pubs
    involved_in DNA repair PubMed 
    involved_in RNA splicing  
    involved_in animal organ development  
    involved_in cellular response to virus PubMed 
    involved_in glutamate receptor signaling pathway  
    involved_in mRNA export from nucleus PubMed 
    involved_in mRNA processing  
    involved_in mRNA transport  
    involved_in mRNA transport  
    involved_in membraneless organelle assembly PubMed 
    involved_in modulation by host of viral RNA genome replication PubMed 
    involved_in negative regulation of cytoplasmic translation  
    involved_in negative regulation of long-term synaptic depression  
    involved_in negative regulation of miRNA-mediated gene silencing PubMed 
    involved_in negative regulation of synaptic vesicle exocytosis  
    involved_in negative regulation of translation PubMed 
    involved_in negative regulation of translational initiation  
    involved_in negative regulation of voltage-gated calcium channel activity  
    involved_in nervous system development  
    involved_in positive regulation of dendritic spine development  
    involved_in positive regulation of filopodium assembly  
    involved_in positive regulation of intracellular transport of viral material PubMed 
    involved_in positive regulation of long-term neuronal synaptic plasticity  
    involved_in positive regulation of miRNA-mediated gene silencing PubMed 
    involved_in positive regulation of proteasomal protein catabolic process  
    involved_in positive regulation of receptor internalization PubMed 
    involved_in positive regulation of translation  
    involved_in positive regulation of translation PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome PubMed 
    involved_in regulation of dendritic spine development PubMed 
    involved_in regulation of filopodium assembly PubMed 
    involved_in regulation of mRNA stability  
    involved_in regulation of mRNA stability  
    involved_in regulation of neuronal action potential PubMed 
    involved_in regulation of neurotransmitter secretion  
    involved_in regulation of translation at presynapse, modulating synaptic transmission  
    involved_in regulatory ncRNA-mediated gene silencing  
    involved_in stress granule assembly PubMed 
    Items 1 - 25 of 38
    Items 1 - 20 of 46
    Component Evidence Code Pubs
    located_in Cajal body PubMed 
    located_in Cajal body  
    part_of SMN complex PubMed 
    located_in axon  
    located_in axon terminus  
    located_in cell projection PubMed 
    located_in chromocenter  
    located_in chromosome  
    located_in chromosome, centromeric region  
    is_active_in cytoplasm PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasmic ribonucleoprotein granule PubMed 
    is_active_in cytoplasmic stress granule  
    is_active_in cytoplasmic stress granule PubMed 
    located_in cytosol  
    located_in dendrite  
    located_in dendritic filopodium  
    located_in dendritic spine  
    located_in filopodium tip  
    located_in glial cell projection  
    located_in growth cone PubMed 
    located_in growth cone filopodium  
    is_active_in intracellular membraneless organelle PubMed 
    located_in membrane PubMed 
    is_active_in neuron projection  
    located_in neuron projection PubMed 
    is_active_in neuronal ribonucleoprotein granule PubMed 
    located_in neuronal ribonucleoprotein granule  
    located_in nucleolus PubMed 
    located_in nucleolus PubMed 
    located_in nucleoplasm PubMed 
    is_active_in nucleus  
    is_active_in nucleus PubMed 
    located_in nucleus PubMed 
    located_in nucleus  
    located_in perikaryon PubMed 
    located_in perikaryon  
    located_in perinuclear region of cytoplasm PubMed 
    located_in postsynapse  
    located_in postsynaptic density  
    located_in postsynaptic membrane  
    located_in presynapse  
    located_in presynaptic membrane  
    part_of ribonucleoprotein complex PubMed 
    located_in synapse  
    Items 1 - 20 of 46

    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_001185075.2 → NP_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:221 → 280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283 → 325
      KH_1; KH domain
      pfam05641
      Location:63 → 120
      Agenet; Agenet domain
    2. NM_001185076.2 → NP_001172005.1  fragile X messenger ribonucleoprotein 1 isoform ISO7

      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:221 → 280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283 → 325
      KH_1; KH domain
      pfam05641
      Location:63 → 120
      Agenet; Agenet domain
      pfam12235
      Location:399 → 551
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:529 → 611
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    3. NM_001185081.2 → NP_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:221 → 280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283 → 325
      KH_1; KH domain
      pfam05641
      Location:63 → 120
      Agenet; Agenet domain
    4. NM_001185082.2 → NP_001172011.1  fragile X messenger ribonucleoprotein 1 isoform ISO9

      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:221 → 280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283 → 325
      KH_1; KH domain
      pfam05641
      Location:63 → 120
      Agenet; Agenet domain
      pfam12235
      Location:399 → 526
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:504 → 586
      FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
    5. NM_002024.6 → NP_002015.1  fragile X messenger ribonucleoprotein 1 isoform ISO1

      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:221 → 280
      KH; K homology RNA-binding domain
      pfam00013
      Location:283 → 325
      KH_1; KH domain
      pfam05641
      Location:63 → 120
      Agenet; Agenet domain
      pfam12235
      Location:420 → 572
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      pfam16098
      Location:550 → 632
      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_2024_08

    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)
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