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    Elfn1 leucine rich repeat and fibronectin type III, extracellular 1 [ Mus musculus (house mouse) ]

    Gene ID: 243312, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Elfn1provided by MGI
    Official Full Name
    leucine rich repeat and fibronectin type III, extracellular 1provided by MGI
    Primary source
    MGI:MGI:2442479
    See related
    Ensembl:ENSMUSG00000048988 AllianceGenome:MGI:2442479
    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
    Ppp1r28; A930017N06Rik
    Summary
    Predicted to enable protein phosphatase inhibitor activity. Involved in synaptic membrane adhesion. Acts upstream of or within several processes, including chemical synaptic transmission; synapse assembly; and visual perception. Located in dendrite and excitatory synapse. Is active in axon terminus; glutamatergic synapse; and postsynaptic density membrane. Is expressed in several structures, including adrenal gland; eye; gut; nervous system; and reproductive system. Orthologous to human ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in adrenal adult (RPKM 19.8), testis adult (RPKM 15.6) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Elfn1 in Genome Data Viewer
    Location:
    5 G2; 5 78.81 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (139893346..139960480)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (139907591..139974725)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38727 Neighboring gene proteasome (prosome, macropain) assembly chaperone 3 Neighboring gene MAD1 mitotic arrest deficient 1-like 1 Neighboring gene predicted gene, 30492 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140619500-140619609 Neighboring gene STARR-seq mESC enhancer starr_14706 Neighboring gene STARR-seq mESC enhancer starr_14707 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140684659-140684995 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140686457-140686707 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140691391-140691751 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140736675-140736858 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140740159-140740368 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140747294-140747554 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:140758495-140758709 Neighboring gene STARR-positive B cell enhancer ABC_E6391 Neighboring gene STARR-seq mESC enhancer starr_14708 Neighboring gene nudix hydrolase 1 Neighboring gene mitochondrial rRNA methyltransferase 2

    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 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. Mutation of Elfn1 in mice causes seizures and hyperactivity. Dolan J, et al. PLoS One, 2013. PMID 24312227, Free PMC Article
    2. Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins. Miller ML, et al. J Biol Chem, 2024 Apr. PMID 38428819, Free PMC Article
    3. Presynaptic Kainate Receptors onto Somatostatin Interneurons Are Recruited by Activity throughout Development and Contribute to Cortical Sensory Adaptation. Stachniak TJ, et al. J Neurosci, 2023 Oct 25. PMID 37709538, Free PMC Article
    4. Elfn1 regulates target-specific release probability at CA1-interneuron synapses. Sylwestrak EL, et al. Science, 2012 Oct 26. PMID 23042292, Free PMC Article
    5. Selective Enrichment of Munc13-2 in Presynaptic Active Zones of Hippocampal Pyramidal Cells That Innervate mGluR1α Expressing Interneurons. Holderith N, et al. Front Synaptic Neurosci, 2021. PMID 35221979, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins.
      Title: Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins.
    2. A transsynaptic interaction between Elfn1 and mGluR7 constitutively reduces initial release probability onto mouse cortical SOM neurons. Elfn1 produces glutamate-independent activation of mGluR7 via presynaptic clustering, resulting in a divergence from the canonical "autoreceptor" role of Type III mGluRs, and substantially altering synaptic pharmacology.
      Title: Elfn1-Induced Constitutive Activation of mGluR7 Determines Frequency-Dependent Recruitment of Somatostatin Interneurons.
    3. Elfn1 protein increases during postnatal development and localizes to postsynaptic sites of somatostatin-containing interneurons in the hippocampal CA1 stratum oriens and dentate gyrus hilus.Elfn1 recruits mGluR7 to synaptic sites.
      Title: Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.
    4. Mutation of Elfn1 in mice causes seizures and hyperactivity.
      Title: Mutation of Elfn1 in mice causes seizures and hyperactivity.
    5. postsynaptic expression of Elfn1 in oriens-lacunosum moleculare interneurons regulates presynaptic release probability, which confers target-specific synaptic properties to pyramidal cell axons.
      Title: Elfn1 regulates target-specific release probability at CA1-interneuron synapses.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (6)  1 citation

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within chemical synaptic transmission IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within synapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic membrane adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic membrane adhesion IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in synaptic membrane adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within synaptic signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axon terminus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in excitatory synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in neuron projection terminus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density membrane IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in postsynaptic density membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein ELFN1
    Names
    extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1
    protein phosphatase 1 regulatory subunit 28

    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_001384186.1 → NP_001371115.1  protein ELFN1 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC130221, AC145748
      UniProtKB/Swiss-Prot
      Q8C8T7
      Conserved Domains (3) summary
      smart00082
      Location:190 → 228
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:65 → 85
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:85 → 144
      LRR_8; Leucine rich repeat

    2. NM_175522.4 → NP_780731.1  protein ELFN1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_780731.1

      Status: VALIDATED

      Source sequence(s)
      AC130221, AC145748
      Consensus CDS
      CCDS19816.1
      UniProtKB/Swiss-Prot
      Q8C8T7
      Related
      ENSMUSP00000053869.7, ENSMUST00000050519.8
      Conserved Domains (3) summary
      smart00082
      Location:190 → 228
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:65 → 85
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:85 → 144
      LRR_8; Leucine rich repeat

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      139893346..139960480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017320882.2 → XP_017176371.1  protein ELFN1 isoform X1

      UniProtKB/Swiss-Prot
      Q8C8T7
      Conserved Domains (3) summary
      smart00082
      Location:190 → 228
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:65 → 85
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:85 → 144
      LRR_8; Leucine rich repeat

    2. XM_006504704.5 → XP_006504767.1  protein ELFN1 isoform X1

      See identical proteins and their annotated locations for XP_006504767.1

      UniProtKB/Swiss-Prot
      Q8C8T7
      Conserved Domains (3) summary
      smart00082
      Location:190 → 228
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:65 → 85
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:85 → 144
      LRR_8; Leucine rich repeat

    3. XM_006504703.4 → XP_006504766.1  protein ELFN1 isoform X1

      See identical proteins and their annotated locations for XP_006504766.1

      UniProtKB/Swiss-Prot
      Q8C8T7
      Conserved Domains (3) summary
      smart00082
      Location:190 → 228
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:65 → 85
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:85 → 144
      LRR_8; Leucine rich repeat

    4. XM_030254504.2 → XP_030110364.1  protein ELFN1 isoform X1

      UniProtKB/Swiss-Prot
      Q8C8T7
      Conserved Domains (3) summary
      smart00082
      Location:190 → 228
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:65 → 85
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:85 → 144
      LRR_8; Leucine rich repeat

    5. XM_006504702.4 → XP_006504765.1  protein ELFN1 isoform X1

      See identical proteins and their annotated locations for XP_006504765.1

      UniProtKB/Swiss-Prot
      Q8C8T7
      Conserved Domains (3) summary
      smart00082
      Location:190 → 228
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:65 → 85
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:85 → 144
      LRR_8; Leucine rich repeat

    RNA

    1. XR_001784695.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C8T7.1 GenPept UniProtKB/Swiss-Prot:Q8C8T7

    Gene LinkOut

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

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