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Elmod1 ELMO/CED-12 domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 270162, updated on 21-Apr-2024

Summary

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Official Symbol
Elmod1provided by MGI
Official Full Name
ELMO/CED-12 domain containing 1provided by MGI
Primary source
MGI:MGI:3583900
See related
Ensembl:ENSMUSG00000041986 AllianceGenome:MGI:3583900
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
4831417L10
Summary
Predicted to enable GTPase activator activity. Predicted to be involved in positive regulation of GTPase activity. Is expressed in several structures, including brain; inner ear; reproductive system; skin; and spinal cord. Orthologous to human ELMOD1 (ELMO domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cerebellum adult (RPKM 36.5), cortex adult (RPKM 35.3) and 4 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 A5.3; 9 29.35 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (53818741..53882628, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (53911457..53975428, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_24157 Neighboring gene SIVA1, apoptosis-inducing factor pseudogene Neighboring gene predicted gene, 39340 Neighboring gene STARR-seq mESC enhancer starr_24159 Neighboring gene tumor necrosis factor, alpha-induced protein 8-like 3 Neighboring gene STARR-seq mESC enhancer starr_24161 Neighboring gene predicted gene, 57545

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. Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia. Johnson KR, et al. PLoS One, 2012. PMID 22558334, Free PMC Article
  2. 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
  3. Functionally enigmatic genes: a case study of the brain ignorome. Pandey AK, et al. PLoS One, 2014. PMID 24523945, Free PMC Article
  4. ELMOD1 Stimulates ARF6-GTP Hydrolysis to Stabilize Apical Structures in Developing Vestibular Hair Cells. Krey JF, et al. J Neurosci, 2018 Jan 24. PMID 29222402, Free PMC Article
  5. ¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models. Probert F, et al. J Proteome Res, 2015 May 1. PMID 25849460

See all (20) 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. We show that ELMOD1 is a GTPase-activating protein in hair cells for the small GTP-binding protein ARF6, known to participate in actin assembly and membrane trafficking
    Title: ELMOD1 Stimulates ARF6-GTP Hydrolysis to Stabilize Apical Structures in Developing Vestibular Hair Cells.
  3. Elmod1 has relatively high and selective expression in the brain but as of 2014 has not been well-studied with respect to CNS function or disease associations. It is part of the core brain ignorome. Elmod1 has a high cis-eQTL in hippocampus, hypothalamus, striatum. Hearing sensitivity trait in GeneNetwork.org also maps to the region containing Elmod1.
    Title: Functionally enigmatic genes: a case study of the brain ignorome.
  4. This finding connecting ELMOD1 deficiencies with stereocilia dysmorphologies establishes a link between the Ras superfamily of small regulatory GTPases and the actin cytoskeleton dynamics of hair cell stereocilia.
    Title: Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.
Submit: New GeneRIF Correction

Variation

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Alleles

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

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 GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cilium assembly 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 
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 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synapse IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ELMO domain-containing protein 1
Names
ELMO domain containing 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_001405021.1 → NP_001391950.1  ELMO domain-containing protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC157476

  2. NM_001405022.1 → NP_001391951.1  ELMO domain-containing protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC157476
    Related
    ENSMUST00000215313.2

  3. NM_177769.5 → NP_808437.2  ELMO domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_808437.2

    Status: VALIDATED

    Source sequence(s)
    AC157476
    Consensus CDS
    CCDS57678.1
    UniProtKB/Swiss-Prot
    Q3V1U8
    UniProtKB/TrEMBL
    E9Q0K9
    Related
    ENSMUSP00000046191.8, ENSMUST00000048409.14
    Conserved Domains (1) summary
    pfam04727
    Location:119 → 290
    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_000075.7 Reference GRCm39 C57BL/6J

    Range
    53818741..53882628 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511206.4 → XP_006511269.1  ELMO domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    E9Q0K9
    Conserved Domains (1) summary
    pfam04727
    Location:113 → 292
    ELMO_CED12; ELMO/CED-12 family
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3V1U8.2 GenPept UniProtKB/Swiss-Prot:Q3V1U8

Gene LinkOut

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

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