Fmr1 fragile X messenger ribonucleoprotein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fmr1provided by MGI
Official Full Name: fragile X messenger ribonucleoprotein 1provided by MGI
Primary source: MGI:MGI:95564
See related: Ensembl:ENSMUSG00000000838 AllianceGenome:MGI:95564
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: FMRP; Fmr-1
Summary: Enables several functions, including N6-methyladenosine-containing RNA reader activity; RNA binding activity; and dynein complex binding activity. Involved in several processes, including chemical synaptic transmission; negative regulation of long-term synaptic depression; and post-transcriptional regulation of gene expression. Acts upstream of or within with a positive effect on miRNA-mediated post-transcriptional gene silencing. Acts upstream of or within central nervous system development and dendritic spine development. Located in several cellular components, including cytoplasmic ribonucleoprotein granule; filopodium; and perikaryon. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and presynaptic cytosol. Is expressed in several structures, including central nervous system; genitourinary system; liver; sensory organ; and spleen. Used to study autism spectrum disorder; fragile X syndrome; and fragile X-associated tremor/ataxia syndrome. Human ortholog(s) of this gene implicated in fragile X syndrome; fragile X-associated tremor/ataxia syndrome; and primary ovarian insufficiency 1. Orthologous to human FMR1 (fragile X messenger ribonucleoprotein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 14.2), limb E14.5 (RPKM 13.3) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.1; X 34.83 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (67722144..67761569)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (68678536..68717963)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

P2X7 expression patterns in the developing Fmr1-knockout mouse hippocampus.
Title: P2X7 expression patterns in the developing Fmr1-knockout mouse hippocampus.
Lack of FMRP in the retina: Evidence of a retinal specific transcriptomic profile.
Title: Lack of FMRP in the retina: Evidence of a retinal specific transcriptomic profile.
Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome.
Title: Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome.
Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice.
Title: Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice.
FMRP regulates postnatal neuronal migration via MAP1B.
Title: FMRP regulates postnatal neuronal migration via MAP1B.
KIF5B plays important roles in dendritic spine plasticity and dendritic localization of PSD95 and FMRP in the mouse cortex in vivo.
Title: KIF5B plays important roles in dendritic spine plasticity and dendritic localization of PSD95 and FMRP in the mouse cortex in vivo.
Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome.
Title: Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome.
Altered brain serotonin 5-HT1A receptor expression and function in juvenile Fmr1 knockout mice.
Title: Altered brain serotonin 5-HT(1A) receptor expression and function in juvenile Fmr1 knockout mice.
FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm.
Title: FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm.
Endogenous noise of neocortical neurons correlates with atypical sensory response variability in the Fmr1[-/y] mouse model of autism.
Title: Endogenous noise of neocortical neurons correlates with atypical sensory response variability in the Fmr1(-/y) mouse model of autism.

Submit: New GeneRIF Correction See all GeneRIFs (355)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fmr1 (e-PCR), detects polymorphism
- UniSTS:478998

px-34b10 (e-PCR)
- UniSTS:258380

GDB:370773 (e-PCR)
- UniSTS:156827

L23971 (e-PCR)
- UniSTS:124883

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G-quadruplex RNA binding	ISO Inferred from Sequence Orthology more info
enables G-quadruplex RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables N6-methyladenosine-containing RNA reader activity	IDA Inferred from Direct Assay more info	PubMed
enables N6-methyladenosine-containing RNA reader activity	ISO Inferred from Sequence Orthology more info
enables RNA 7-methylguanosine cap binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables RNA stem-loop binding	ISO Inferred from Sequence Orthology more info
enables RNA stem-loop binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA strand annealing activity	ISO Inferred from Sequence Orthology more info
enables RNA strand annealing activity	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables dynein complex binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
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 3'-UTR binding	ISO Inferred from Sequence Orthology more info
enables mRNA 3'-UTR binding	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA 5'-UTR binding	ISO Inferred from Sequence Orthology more info
enables mRNA 5'-UTR binding	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	ISO Inferred from Sequence Orthology more info
enables mRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables methylated histone binding	ISO Inferred from Sequence Orthology more info
enables methylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables miRNA binding	ISO Inferred from Sequence Orthology more info
enables miRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	ISO Inferred from Sequence Orthology more info
enables molecular condensate scaffold activity	ISS Inferred from Sequence or Structural Similarity more info
enables poly(G) binding	ISO Inferred from Sequence Orthology more info
enables poly(G) binding	ISS Inferred from Sequence or Structural Similarity more info
enables poly(U) RNA binding	ISO Inferred from Sequence Orthology more info
enables poly(U) RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein phosphatase binding	ISO Inferred from Sequence Orthology more info
enables ribosome binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific mRNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific mRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables siRNA binding	ISO Inferred from Sequence Orthology more info
enables siRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables signaling adaptor activity	ISO Inferred from Sequence Orthology more info
enables translation initiation factor binding	ISO Inferred from Sequence Orthology more info
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 translation repressor activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendritic spine development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in evoked excitatory postsynaptic potential	ISO Inferred from Sequence Orthology more info
involved_in excitatory chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamate receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in glutamate receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamate receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in inhibitory chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular glutamate homeostasis	ISO Inferred from Sequence Orthology more info
involved_in locomotory exploration behavior	ISO Inferred from Sequence Orthology more info
involved_in mRNA export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA export from nucleus	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in membraneless organelle assembly	ISO Inferred from Sequence Orthology more info
involved_in membraneless organelle assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within_positive_effect miRNA-mediated post-transcriptional gene silencing	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation by host of viral RNA genome replication	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytoplasmic translation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of long-term synaptic depression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of miRNA-mediated gene silencing	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein processing	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of synaptic vesicle exocytosis	ISO Inferred from Sequence Orthology more info
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 translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of translation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of translational initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic spine development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of filopodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intracellular transport of viral material	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of long-term neuronal synaptic plasticity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of long-term neuronal synaptic plasticity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of long-term synaptic depression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of long-term synaptic potentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of miRNA-mediated gene silencing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of miRNA-mediated gene silencing	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of proteasomal protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of translation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
involved_in regulation of dendritic spine development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dendritic spine development	ISO Inferred from Sequence Orthology more info
involved_in regulation of filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of filopodium assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of mRNA stability	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mRNA stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuronal action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuronal action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurotransmitter secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of translation at postsynapse, modulating synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translation at postsynapse, modulating synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translation at presynapse, modulating synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation at presynapse, modulating synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in response to interleukin-17	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stress granule assembly	ISO Inferred from Sequence Orthology more info
involved_in stress granule assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmission of nerve impulse	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	ISO Inferred from Sequence Orthology more info
part_of SMN complex	ISO Inferred from Sequence Orthology more info
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in cell body	ISO Inferred from Sequence Orthology more info	PubMed
located_in cell projection	ISO Inferred from Sequence Orthology more info
located_in chromocenter	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic stress granule	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic stress granule	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendritic filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic filopodium	ISO Inferred from Sequence Orthology more info
located_in dendritic filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine head	ISO Inferred from Sequence Orthology more info
located_in dendritic spine neck	ISO Inferred from Sequence Orthology more info
located_in filopodium tip	IDA Inferred from Direct Assay more info	PubMed
located_in glial cell projection	ISO Inferred from Sequence Orthology more info
located_in glial cell projection	ISS Inferred from Sequence or Structural Similarity more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone filopodium	IDA Inferred from Direct Assay more info	PubMed
is_active_in hippocampal mossy fiber to CA3 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membraneless organelle	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in neuronal ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuronal ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info
located_in neuronal ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info	PubMed
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info
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
is_active_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	ISO Inferred from Sequence Orthology more info
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 perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic cytosol	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in proximal dendrite	ISO Inferred from Sequence Orthology more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info
located_in spine apparatus	ISO Inferred from Sequence Orthology more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in terminal bouton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: fragile X messenger ribonucleoprotein 1

Names: FMRP translational regulator 1; synaptic functional regulator FMR1

NCBI Reference Sequences (RefSeq)

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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)

NM_001290424.2 → NP_001277353.1 fragile X messenger ribonucleoprotein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC055766

Consensus CDS

CCDS72385.1

UniProtKB/TrEMBL

E9QAT0, Q547R0

Related

ENSMUSP00000110301.2, ENSMUST00000114653.2

Conserved Domains (5) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

cd00105
Location:286 → 325

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:63 → 120

Agenet; Agenet domain

pfam12235
Location:419 → 546

FXMRP1_C_core; Fragile X-related 1 protein core C terminal

pfam16098
Location:524 → 589

FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2
NM_001374719.1 → NP_001361648.1 fragile X messenger ribonucleoprotein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC055766

Consensus CDS

CCDS90720.1

UniProtKB/TrEMBL

D3Z6U8, E9QNF5

Related

ENSMUSP00000110305.3, ENSMUST00000114657.9

Conserved Domains (6) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

pfam00013
Location:285 → 332

KH_1; KH domain

pfam12235
Location:398 → 501

FXMRP1_C_core; Fragile X-related 1 protein core C terminal

pfam16098
Location:528 → 593

FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2

pfam17904
Location:123 → 207

KH_9; FMRP KH0 domain

pfam18336
Location:4 → 52

Tudor_FRX1; Fragile X mental retardation Tudor domain
NM_001412089.1 → NP_001399018.1 fragile X messenger ribonucleoprotein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC055766
NM_001412090.1 → NP_001399019.1 fragile X messenger ribonucleoprotein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC055766
NM_001412091.1 → NP_001399020.1 fragile X messenger ribonucleoprotein 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC055766

Related

ENSMUSP00000110302.2, ENSMUST00000114654.8
NM_008031.4 → NP_032057.2 fragile X messenger ribonucleoprotein 1 isoform 1

See identical proteins and their annotated locations for NP_032057.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC055766

Consensus CDS

CCDS30171.1

UniProtKB/Swiss-Prot

P35922

UniProtKB/TrEMBL

Q6AXB7

Related

ENSMUSP00000085906.6, ENSMUST00000088546.12

Conserved Domains (5) summary

smart00322
Location:221 → 280

KH; K homology RNA-binding domain

pfam00013
Location:283 → 323

KH_1; KH domain

pfam05641
Location:63 → 120

Agenet; Agenet domain

pfam12235
Location:419 → 571

FXMRP1_C_core; Fragile X-related 1 protein core C terminal

pfam16098
Location:549 → 614

FXMR_C2; Fragile X-related mental retardation protein C-terminal region 2