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    Frrs1l ferric-chelate reductase 1 like [ Mus musculus (house mouse) ]

    Gene ID: 230235, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Frrs1lprovided by MGI
    Official Full Name
    ferric-chelate reductase 1 likeprovided by MGI
    Primary source
    MGI:MGI:2442704
    See related
    Ensembl:ENSMUSG00000045589 AllianceGenome:MGI:2442704
    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
    6430704M03Rik
    Summary
    Predicted to be involved in regulation of glutamate receptor signaling pathway and regulation of postsynaptic membrane neurotransmitter receptor levels. Predicted to be located in plasma membrane and synapse. Predicted to be integral component of membrane. Is expressed in several structures, including central nervous system; future brain; and male reproductive gland or organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 37. Orthologous to human FRRS1L (ferric chelate reductase 1 like). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cerebellum adult (RPKM 20.2), cortex adult (RPKM 15.8) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 B3; 4 31.66 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (56957173..56990408, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (56960136..56990391, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 245 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:56928950-56929103 Neighboring gene predicted gene, 25053 Neighboring gene STARR-seq mESC enhancer starr_10314 Neighboring gene predicted gene, 22300 Neighboring gene STARR-seq mESC enhancer starr_10316 Neighboring gene erythrocyte membrane protein band 4.1 like 4b Neighboring gene predicted gene, 34738 Neighboring gene STARR-seq mESC enhancer starr_10320 Neighboring gene predicted gene, 34802

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. An ER Assembly Line of AMPA-Receptors Controls Excitatory Neurotransmission and Its Plasticity. Schwenk J, et al. Neuron, 2019 Nov 20. PMID 31604597
    2. Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells. Wang R, et al. Brain Res Bull, 2022 Dec. PMID 36330921
    3. Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities. Stewart M, et al. Dis Model Mech, 2019 Feb 22. PMID 30692144, Free PMC Article
    4. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Madeo M, et al. Am J Hum Genet, 2016 Jun 2. PMID 27236917, Free PMC Article
    5. Ferric Chelate Reductase 1 Like Protein (FRRS1L) Associates with Dynein Vesicles and Regulates Glutamatergic Synaptic Transmission. Han W, et al. Front Mol Neurosci, 2017. PMID 29276473, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells.
      Title: Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells.
    2. Our results provide mechanistic insight into the stepwise biogenesis of AMPA-receptors in native endoplasmic reticulum membranes and establish FRRS1l as a powerful regulator of synaptic signaling and plasticity.
      Title: An ER Assembly Line of AMPA-Receptors Controls Excitatory Neurotransmission and Its Plasticity.
    3. Frrsl1 deletion results in an increased proportion of immature AMPA receptors, indicated by incomplete glycosylation of GLUA2 (also known as GRIA2) and GLUA4 (also known as GRIA4) AMPA receptor proteins.
      Title: Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dynein intermediate chain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within regulation of AMPA glutamate receptor clustering IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of glutamate receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of glutamate receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    DOMON domain-containing protein FRRS1L
    Names
    ferric-chelate reductase 1-like protein

    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)

    1. NM_001142965.2 → NP_001136437.1  DOMON domain-containing protein FRRS1L precursor

      See identical proteins and their annotated locations for NP_001136437.1

      Status: VALIDATED

      Source sequence(s)
      AL831761, BX470220
      Consensus CDS
      CCDS51179.1
      UniProtKB/Swiss-Prot
      A3KMM1, B1AXV0, Q8BYS5
      Related
      ENSMUSP00000052507.6, ENSMUST00000053681.6
      Conserved Domains (1) summary
      cd09628
      Location:94 → 253
      DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      56957173..56990408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B1AXV0.1 GenPept UniProtKB/Swiss-Prot:B1AXV0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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