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

Gene ID: 232089, updated on 2-Nov-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 and autosomal recessive nonsyndromic deafness 88. Orthologous to human ELMOD3 (ELMO domain containing 3). [provided by Alliance of Genome Resources, Nov 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 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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