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    Elmod3 ELMO/CED-12 domain containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 232089, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Elmod3provided by MGI
    Official Full Name
    ELMO/CED-12 domain containing 3provided by MGI
    Primary source
    MGI:MGI:2445168
    See related
    Ensembl:ENSMUSG00000056698 AllianceGenome:MGI:2445168
    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
    RBM29; Rbed1; C330008I15Rik
    Summary
    Acts upstream of or within several processes, including cilium assembly; inner ear receptor cell development; and sensory perception of sound. Is active in Golgi apparatus and cilium. Is expressed in cerebral cortex; cerebral cortex ventricular layer; cortical plate; hindbrain; and olfactory epithelium. Used to study autosomal recessive nonsyndromic deafness 88. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 81 and autosomal recessive nonsyndromic deafness 88. Orthologous to human ELMOD3 (ELMO domain containing 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 13.1), kidney adult (RPKM 10.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Elmod3 in Genome Data Viewer
    Location:
    6 C1; 6 32.27 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (72542905..72575396, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (72565922..72598431, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene SH2 domain containing 6 Neighboring gene STARR-positive B cell enhancer ABC_E11320 Neighboring gene STARR-seq mESC enhancer starr_16289 Neighboring gene STARR-positive B cell enhancer ABC_E6442 Neighboring gene capping actin protein, gelsolin like Neighboring gene STARR-positive B cell enhancer ABC_E4833 Neighboring gene retinol saturase (all trans retinol 13,14 reductase) Neighboring gene STARR-positive B cell enhancer ABC_E6443 Neighboring gene trans-golgi network protein

    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. The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic. Turn RE, et al. Mol Biol Cell, 2022 Feb 1. PMID 34818063, Free PMC Article
    2. The C-terminal polyproline-containing region of ELMO contributes to an increase in the life-time of the ELMO-DOCK complex. Sévajol M, et al. Biochimie, 2012 Mar. PMID 22177965
    3. Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia. Li W, et al. Hum Mol Genet, 2019 Dec 15. PMID 31628468, Free PMC Article
    4. In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Gineste C, et al. Neuromuscul Disord, 2013 Apr. PMID 23375831
    5. A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. McKee AE, et al. BMC Dev Biol, 2005 Jul 20. PMID 16033648, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic.
      Title: The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic.
    2. Finding associates Elmod3 deficiencies with stereocilia dysmorphologies and reveals that they might play roles in the actin cytoskeleton dynamics in cochlear hair cells, and thus relate to hearing impairment.
      Title: Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia.
    3. The data demonstrate the ability of the SH3 domain of DOCK180 to interact with ELMO1, regardless of the presence of the polyproline-containing C-terminal end.
      Title: The C-terminal polyproline-containing region of ELMO contributes to an increase in the life-time of the ELMO-DOCK complex.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC27575

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within auditory receptor cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within stereocilium maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinocilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stereocilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ELMO domain-containing protein 3
    Names
    RNA binding motif and ELMO domain 1
    RNA-binding motif and ELMO domain-containing protein 1

    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_001253692.1 → NP_001240621.1  ELMO domain-containing protein 3

      See identical proteins and their annotated locations for NP_001240621.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1 and 2 enconde the same protein.
      Source sequence(s)
      AK084010, BE944793, BY074266
      Consensus CDS
      CCDS20243.1
      UniProtKB/Swiss-Prot
      Q3TNV2, Q91YP6
      Related
      ENSMUSP00000067768.2, ENSMUST00000070990.8
      Conserved Domains (1) summary
      pfam04727
      Location:155 → 308
      ELMO_CED12; ELMO/CED-12 family

    2. NM_001364553.1 → NP_001351482.1  ELMO domain-containing protein 3

      Status: VALIDATED

      Source sequence(s)
      AC125039, AK049155, AK084010, BE944793
      Consensus CDS
      CCDS20243.1
      UniProtKB/Swiss-Prot
      Q3TNV2, Q91YP6
      Conserved Domains (1) summary
      pfam04727
      Location:155 → 308
      ELMO_CED12; ELMO/CED-12 family

    3. NM_001364554.1 → NP_001351483.1  ELMO domain-containing protein 3

      Status: VALIDATED

      Source sequence(s)
      AK049155, AK084010, BE944793, BU614609
      Consensus CDS
      CCDS20243.1
      UniProtKB/Swiss-Prot
      Q3TNV2, Q91YP6
      Conserved Domains (1) summary
      pfam04727
      Location:155 → 308
      ELMO_CED12; ELMO/CED-12 family

    4. NM_144917.5 → NP_659166.1  ELMO domain-containing protein 3

      See identical proteins and their annotated locations for NP_659166.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK049155, AK084010, BE944793, BY074266
      Consensus CDS
      CCDS20243.1
      UniProtKB/Swiss-Prot
      Q3TNV2, Q91YP6
      Related
      ENSMUSP00000109703.2, ENSMUST00000114069.8
      Conserved Domains (1) summary
      pfam04727
      Location:155 → 308
      ELMO_CED12; ELMO/CED-12 family

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      72542905..72575396 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255335.2 → XP_030111195.1  ELMO domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q3TNV2, Q91YP6
      Conserved Domains (1) summary
      pfam04727
      Location:155 → 308
      ELMO_CED12; ELMO/CED-12 family

    2. XM_030255334.2 → XP_030111194.1  ELMO domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q3TNV2, Q91YP6
      Conserved Domains (1) summary
      pfam04727
      Location:155 → 308
      ELMO_CED12; ELMO/CED-12 family

    3. XM_030255333.2 → XP_030111193.1  ELMO domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q3TNV2, Q91YP6
      Conserved Domains (1) summary
      pfam04727
      Location:155 → 308
      ELMO_CED12; ELMO/CED-12 family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YP6.1 GenPept UniProtKB/Swiss-Prot:Q91YP6

    Gene LinkOut

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

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