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    Efr3a EFR3 homolog A [ Mus musculus (house mouse) ]

    Gene ID: 76740, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Efr3aprovided by MGI
    Official Full Name
    EFR3 homolog Aprovided by MGI
    Primary source
    MGI:MGI:1923990
    See related
    Ensembl:ENSMUSG00000015002 AllianceGenome:MGI:1923990
    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
    mKIAA0143; A130089M23Rik; C920006C10Rik; D030063F01Rik
    Summary
    Predicted to enable protein homodimerization activity. Involved in synaptic vesicle priming. Located in plasma membrane. Is active in glutamatergic synapse. Is expressed in genitourinary system. Orthologous to human EFR3A (EFR3 homolog A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 23.6), cortex adult (RPKM 17.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Efr3a in Genome Data Viewer
    Location:
    15 D1; 15 29.12 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (65658852..65745661)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (65787020..65873812)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_38865 Neighboring gene STARR-seq mESC enhancer starr_38866 Neighboring gene predicted gene 7814 Neighboring gene STARR-seq mESC enhancer starr_38868 Neighboring gene STARR-seq mESC enhancer starr_38869 Neighboring gene STARR-seq mESC enhancer starr_38870 Neighboring gene STARR-seq mESC enhancer starr_38871 Neighboring gene predicted gene, 23907 Neighboring gene STARR-seq mESC enhancer starr_38873 Neighboring gene predicted gene, 41339 Neighboring gene predicted gene, 41338 Neighboring gene STARR-seq mESC enhancer starr_38875 Neighboring gene STARR-seq mESC enhancer starr_38879 Neighboring gene otoconin 90 Neighboring gene C protein (AA 1-159) Neighboring gene HERV-H LTR-associating 1

    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. Efr3a Insufficiency Attenuates the Degeneration of Spiral Ganglion Neurons after Hair Cell Loss. Hu H, et al. Front Mol Neurosci, 2017. PMID 28424585, Free PMC Article
    2. The role of Efr3a in age-related hearing loss. Hu H, et al. Neuroscience, 2017 Jan 26. PMID 27867060
    3. Expression of EFR3A in the mouse cochlea during degeneration of spiral ganglion following hair cell loss. Nie C, et al. PLoS One, 2015. PMID 25622037, Free PMC Article
    4. Amyloid β oligomers suppress excitatory transmitter release via presynaptic depletion of phosphatidylinositol-4,5-bisphosphate. He Y, et al. Nat Commun, 2019 Mar 13. PMID 30867420, Free PMC Article
    5. Brain-specific ablation of Efr3a promotes adult hippocampal neurogenesis via the brain-derived neurotrophic factor pathway. Qian Q, et al. FASEB J, 2017 May. PMID 28193719

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. that brain-specific deletion of Efr3a could promote adult hippocampal neurogenesis, presumably by upregulating the expression of BDNF and its receptor
      Title: Brain-specific ablation of Efr3a promotes adult hippocampal neurogenesis via the brain-derived neurotrophic factor pathway.
    2. Study suggests that down-regulation of Efr3a might improve hearing function and alleviate the degeneration of spiral ganglion neurons in an early stage of senescence, probably via enhancing the basal expression of activated Akt
      Title: The role of Efr3a in age-related hearing loss.
    3. High expression of EFR3A may be important to prompt initiation of spiral ganglion degeneration following hair cell loss.
      Title: Expression of EFR3A in the mouse cochlea during degeneration of spiral ganglion following hair cell loss.
    4. A GENE encodes mouse homolog of KIAA0143 protein, one derived from a series of unidentified human genes. This gene termed mKIAA0143 shows differential expression of mRNA in the lateral superior olive between mice with hearing los and nornal mice.
      Title: Mouse homolog of KIAA0143 protein: hearing deficit induces specific changes of expression in auditory brainstem neurons.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0143

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptic vesicle priming IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic vesicle priming IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cornified envelope ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in intracellular anatomical structure IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein EFR3 homolog A

    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_001356582.1 → NP_001343511.1  protein EFR3 homolog A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC091276
      UniProtKB/TrEMBL
      A0A1D5RLL3

    2. NM_133766.4 → NP_598527.2  protein EFR3 homolog A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC091276
      Consensus CDS
      CCDS27507.1
      UniProtKB/Swiss-Prot
      Q6ZQI4, Q8BG67, Q8BXQ7, Q8C0Q0, Q922I2
      UniProtKB/TrEMBL
      A0A1D5RLL3
      Related
      ENSMUSP00000015146.10, ENSMUST00000015146.16

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      65658852..65745661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159625.1 → XP_036015518.1  protein EFR3 homolog A isoform X1

    2. XM_006521530.3 → XP_006521593.1  protein EFR3 homolog A isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BG67.1 GenPept UniProtKB/Swiss-Prot:Q8BG67

    Gene LinkOut

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

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