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

Summary

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. Acts upstream of or within cilium assembly and protein transport. Is active in Golgi apparatus; cilium; and glutamatergic synapse. Is expressed in several structures, including brain; genitourinary system; inner ear; skin; and spinal cord. Orthologous to human ELMOD1 (ELMO domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Spontaneous (1) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:492337

AI428506 (e-PCR)
- UniSTS:179901

AI834991 (e-PCR)
- UniSTS:165631

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
enables GTPase activator activity	ISS Inferred from Sequence or Structural Similarity 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)

NM_001405021.1 → NP_001391950.1 ELMO domain-containing protein 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC157476
NM_001405022.1 → NP_001391951.1 ELMO domain-containing protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC157476

Related

ENSMUST00000215313.2
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

B7ZN22

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

53818741..53882628 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B7ZN22

Conserved Domains (1) summary

pfam04727
Location:113 → 292

ELMO_CED12; ELMO/CED-12 family