Fmr1 - fragile X messenger ribonucleoprotein 1 Gene

Mus musculus

Also known as FMRP; Fmr-1

Gene ID: 14265 | Gene type: protein coding

About Fmr1

Summary

Enables several functions, including RNA binding activity; dynein complex binding activity; and microtubule binding activity. Involved in several processes, including chemical synaptic transmission; regulation of cellular protein metabolic process; and regulation of mRNA metabolic process. Acts upstream of or within central nervous system development and dendritic spine development. Located in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic ribonucleoprotein granule; and filopodium. Is extrinsic component of plasma membrane. Part of SMN complex; mRNA cap binding activity complex; and polysome. Is active in 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 (FMRP translational regulator 1). [provided by Alliance of Genome Resources, Apr 2022]

Fmr1 Products(6)

mRNA	Protein	Name
NM_001290424.2	NP_001277353.1	fragile X messenger ribonucleoprotein 1 isoform 2
NM_001374719.1	NP_001361648.1	fragile X messenger ribonucleoprotein 1 isoform 3
NM_001412089.1	NP_001399018.1	fragile X messenger ribonucleoprotein 1 isoform 4
NM_001412090.1	NP_001399019.1	fragile X messenger ribonucleoprotein 1 isoform 5
NM_001412091.1	NP_001399020.1	fragile X messenger ribonucleoprotein 1 isoform 6
NM_008031.4	NP_032057.2	fragile X messenger ribonucleoprotein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables N6-methyladenosine-containing RNA reader activity	IDA IDA: Inferred from direct assay	31340148	MGI
enables RNA binding	IDA IDA: Inferred from direct assay	24349419	MGI
enables chromatin binding	IDA IDA: Inferred from direct assay	24813610	MGI
enables dynein complex binding	IDA IDA: Inferred from direct assay	18539120	MGI
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	11376146	MGI
enables mRNA binding	IDA IDA: Inferred from direct assay	14613971	MGI
enables miRNA binding	IDA IDA: Inferred from direct assay	20159450	MGI
enables microtubule binding	IDA IDA: Inferred from direct assay	17881655	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	10567518	MGI
enables translation repressor activity	IDA IDA: Inferred from direct assay	11376146	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA repair	IDA IDA: Inferred from direct assay	24813610	MGI
acts upstream of or within central nervous system development	IMP IMP: Inferred from mutant phenotype	12700164	MGI
acts upstream of or within dendritic spine development	IGI IGI: Inferred from genetic interaction	23509247	MGI
involved in excitatory chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	30679017	MGI
involved in glutamate receptor signaling pathway	IDA IDA: Inferred from direct assay	18539120	MGI
involved in glutamate receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	11438589	MGI
involved in inhibitory chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	30679017	MGI
involved in mRNA export from nucleus	IDA IDA: Inferred from direct assay	31340148	MGI
involved in mRNA transport	IDA IDA: Inferred from direct assay	18539120	MGI
acts upstream of or within positive effect miRNA-mediated post-transcriptional gene silencing	IDA IDA: Inferred from direct assay	20159450	MGI
involved in negative regulation of cytoplasmic translation	IDA IDA: Inferred from direct assay	11376146	MGI
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	23235829	MGI
involved in negative regulation of long-term synaptic depression	IMP IMP: Inferred from mutant phenotype	11438589	MGI
involved in negative regulation of translation	IDA IDA: Inferred from direct assay	14613971	MGI
involved in negative regulation of translation	IMP IMP: Inferred from mutant phenotype	27666021	MGI
involved in negative regulation of translational initiation	IDA IDA: Inferred from direct assay	18805096	MGI
involved in positive regulation of dendritic spine development	IDA IDA: Inferred from direct assay	18539120	MGI
involved in positive regulation of filopodium assembly	IDA IDA: Inferred from direct assay	18539120	MGI
involved in positive regulation of proteasomal protein catabolic process	IDA IDA: Inferred from direct assay	24709664	MGI
involved in positive regulation of translation	IMP IMP: Inferred from mutant phenotype	19166269	MGI
involved in regulation of alternative mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	18653529	MGI
involved in regulation of dendritic spine development	IMP IMP: Inferred from mutant phenotype	16631377	MGI
involved in regulation of filopodium assembly	IMP IMP: Inferred from mutant phenotype	16631377	MGI
involved in regulation of mRNA stability	IMP IMP: Inferred from mutant phenotype	17417632	MGI
involved in regulation of translation at postsynapse, modulating synaptic transmission	IDA IDA: Inferred from direct assay	12032354	MGI
involved in regulation of translation at postsynapse, modulating synaptic transmission	IMP IMP: Inferred from mutant phenotype	12032354	MGI
involved in response to interleukin-17	IMP IMP: Inferred from mutant phenotype	31853066	MGI
involved in social behavior	IMP IMP: Inferred from mutant phenotype	31853066	MGI
involved in transmission of nerve impulse	IMP IMP: Inferred from mutant phenotype	29901787	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
is active in Schaffer collateral - CA1 synapse	IDA IDA: Inferred from direct assay	12032354	MGI
is active in Schaffer collateral - CA1 synapse	IMP IMP: Inferred from mutant phenotype	12032354	MGI
located in axon	IDA IDA: Inferred from direct assay	16631377	MGI
located in chromocenter	IDA IDA: Inferred from direct assay	24813610	MGI
located in chromosome	IDA IDA: Inferred from direct assay	24813610	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	15805463	MGI
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	18539120	MGI
located in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	21933836	MGI
located in dendrite	IDA IDA: Inferred from direct assay	16631377	MGI
located in dendritic filopodium	IDA IDA: Inferred from direct assay	16631377	MGI
located in dendritic spine	IDA IDA: Inferred from direct assay	16631377	MGI
located in filopodium tip	IDA IDA: Inferred from direct assay	16631377	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	19193898	MGI
located in growth cone filopodium	IDA IDA: Inferred from direct assay	16631377	MGI
is active in hippocampal mossy fiber to CA3 synapse	IDA IDA: Inferred from direct assay	19193898	MGI
located in neuronal ribonucleoprotein granule	IDA IDA: Inferred from direct assay	18539120	MGI
is active in nucleus	IDA IDA: Inferred from direct assay	12700164	MGI
located in nucleus	IDA IDA: Inferred from direct assay	12700164	MGI
located in perikaryon	IDA IDA: Inferred from direct assay	14613971	MGI
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	16790844	MGI
located in postsynapse	IDA IDA: Inferred from direct assay	19193898	MGI
located in presynapse	IDA IDA: Inferred from direct assay	19193898	MGI
is active in presynaptic cytosol	IDA IDA: Inferred from direct assay	19193898	MGI
located in synapse	IDA IDA: Inferred from direct assay	16631377	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

fragile X messenger ribonucleoprotein 1

synaptic functional regulator FMR1

FMRP translational regulator 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100786	DL-AP3		≥98.0%	Unkown
HY-160887	FPT	Agonist	98.06%	Unkown
HY-RS05011	FMR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS05012	FMR1NB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS19332	Fmr1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS25823	Fmr1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Fmr1	NCBI	NCBI:2332

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