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

Gene ID: 243312, updated on 2-Nov-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, Nov 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

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