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FMR1 FMRP translational regulator 1 [ Homo sapiens (human) ]

Gene ID: 2332, updated on 17-Jan-2022

Summary

Official Symbol
FMR1provided by HGNC
Official Full Name
FMRP translational regulator 1provided by HGNC
Primary source
HGNC:HGNC:3775
See related
Ensembl:ENSG00000102081 MIM:309550
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
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Genomic context

See FMR1 in Genome Data Viewer
Location:
Xq27.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (147911919..147951125)
105.20201022 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 origin of replication in 5' region of FMR1 Neighboring gene FMR1 antisense RNA 1 Neighboring gene fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 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 tremor/ataxia syndrome
MedGen: C1839780 OMIM: 300623 GeneReviews: FMR1 Disorders
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87458

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G-quadruplex RNA binding 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
PubMed 
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 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 IBA
Inferred from Biological aspect of Ancestor
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 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
PubMed 
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 RNA splicing IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to UV ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to hydroxyurea ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to virus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in gene silencing by RNA IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
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 mRNA catabolic process 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 IBA
Inferred from Biological aspect of Ancestor
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 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 gene silencing by miRNA IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of histone phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of intracellular transport of viral material IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mRNA binding 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 protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of receptor internalization IDA
Inferred from Direct Assay
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 response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of translation IDA
Inferred from Direct Assay
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of filopodium assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of gene silencing by miRNA IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of mRNA stability IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
Component Evidence Code Pubs
located_in Cajal body IEA
Inferred from Electronic Annotation
more info
 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
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
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
is_active_in cytoplasmic ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic stress granule IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in dendritic filopodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendritic filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in dendritic spine neck IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extrinsic component of plasma membrane 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
 
is_active_in growth cone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
part_of mRNA cap binding complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of messenger ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
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
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 
part_of polysome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of polysome IDA
Inferred from Direct Assay
more info
PubMed 
part_of polysome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in postsynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in presynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
synaptic functional regulator FMR1
Names
fragile X mental retardation 1
fragile X mental retardation protein 1
truncated FMRP

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  synaptic functional regulator FMR1 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  synaptic functional regulator FMR1 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/Swiss-Prot
    Q06787
    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  synaptic functional regulator FMR1 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  synaptic functional regulator FMR1 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/Swiss-Prot
    Q06787
    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  synaptic functional regulator FMR1 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
    Q06787
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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