Elmo1 engulfment and cell motility 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elmo1provided by MGI
Official Full Name: engulfment and cell motility 1provided by MGI
Primary source: MGI:MGI:2153044
See related: Ensembl:ENSMUSG00000041112 AllianceGenome:MGI:2153044
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: CED-12; 6330578D22Rik; C230095H21Rik
Summary: Predicted to enable SH3 domain binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Acts upstream of or within actin filament-based process and phagocytosis. Part of guanyl-nucleotide exchange factor complex. Is expressed in several structures, including genitourinary system; hemolymphoid system gland; nervous system; retina; and vibrissa. Orthologous to human ELMO1 (engulfment and cell motility 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cerebellum adult (RPKM 18.2), thymus adult (RPKM 13.4) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A2; 13 7.21 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (20274677..20792523)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (20090507..20608353)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELMO1 Deficiency Reduces Neutrophil Chemotaxis in Murine Peritonitis.
Title: ELMO1 Deficiency Reduces Neutrophil Chemotaxis in Murine Peritonitis.
The crosstalk between microbial sensors ELMO1 and NOD2 shape intestinal immune responses.
Title: The crosstalk between microbial sensors ELMO1 and NOD2 shape intestinal immune responses.
TNF-alpha/ENO1 signaling facilitates testicular phagocytosis by directly activating Elmo1 gene expression in mouse Sertoli cells.
Title: TNF-α/ENO1 signaling facilitates testicular phagocytosis by directly activating Elmo1 gene expression in mouse Sertoli cells.
The interaction of enteric bacterial effectors with the host engulfment pathway control innate immune responses.
Title: The interaction of enteric bacterial effectors with the host engulfment pathway control innate immune responses.
ELMO1 signaling is a promoter of osteoclast function and bone loss.
Title: ELMO1 signaling is a promoter of osteoclast function and bone loss.
Host engulfment pathway controls inflammation in inflammatory bowel disease.
Title: Host engulfment pathway controls inflammation in inflammatory bowel disease.
Platelet aggregation, granule secretion, integrin alphaIIbbeta3 activation, and thromboxane generation were enhanced in ELMO1(-/-) platelets in response to glycoprotein VI (GPVI) agonists but unaltered when a protease-activated receptor 4 agonist was used. These results indicate that ELMO1 plays an important role in hemostasis and thrombosis in vivo.
Title: ELMO1 deficiency enhances platelet function.
ELMO1 protects against DSS-induced colonic injury in mice through its effect on epithelial migration via Rac1 activation.
Title: Engulfment and Cell Motility Protein 1 Protects Against DSS-induced Colonic Injury in Mice via Rac1 Activation.
Loss of the engulfment signaling protein Elmo1 alleviated disease severity in mouse models of arthritis through Elmo1's regulation of neutrophil recruitment to inflamed joints.
Title: A noncanonical role for the engulfment gene ELMO1 in neutrophils that promotes inflammatory arthritis.
ELMO1 is present in the phagosome and enhances bacterial clearance by differential regulation of lysosomal acidification and enzymatic activity.
Title: ELMO1 Regulates Autophagy Induction and Bacterial Clearance During Enteric Infection.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Chemically induced (ENU) (4)
Endonuclease-mediated (3)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI173001 (e-PCR)
- UniSTS:160273

D13Mit3 (e-PCR), detects polymorphism
- UniSTS:116538

WI-16086 (e-PCR)
- UniSTS:29007

RH126443 (e-PCR)
- UniSTS:163151

D13Dcr1 (e-PCR), detects polymorphism
- UniSTS:507493

D13Mit16 (e-PCR), detects polymorphism
- UniSTS:116405

GDB:4585326 (e-PCR)
- UniSTS:11479

D13Mit115 (e-PCR), detects polymorphism
- UniSTS:126941

Elmo1 (e-PCR), detects polymorphism
- UniSTS:496612

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
contributes_to guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in Rac protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament-based process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell motility	ISO Inferred from Sequence Orthology more info
involved_in cell motility	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in phagocytosis, engulfment	ISO Inferred from Sequence Orthology more info
involved_in phagocytosis, engulfment	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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
part_of guanyl-nucleotide exchange factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of guanyl-nucleotide exchange factor complex	IDA Inferred from Direct Assay more info	PubMed
part_of guanyl-nucleotide exchange factor complex	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: engulfment and cell motility protein 1

Names: engulfment and cell motility 1, ced-12 homolog

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_080288.2 → NP_525027.1 engulfment and cell motility protein 1 isoform 3

See identical proteins and their annotated locations for NP_525027.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (3).

Source sequence(s)

AC124183, AC124751, AC126555, AC132085, AC153143, AC165346

Consensus CDS

CCDS26265.1

UniProtKB/Swiss-Prot

Q8BPU7, Q8BSY9, Q8K2C5, Q91ZU3

UniProtKB/TrEMBL

Q571D6

Related

ENSMUSP00000072334.5, ENSMUST00000072519.7

Conserved Domains (3) summary

cd13359
Location:546 → 675

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:303 → 481

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:116 → 279

DUF3361; Domain of unknown function (DUF3361)
NM_198093.3 → NP_932761.1 engulfment and cell motility protein 1 isoform 2

See identical proteins and their annotated locations for NP_932761.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and differs in the 5' UTR and 5' coding region, compared to variant 3. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 3.

Source sequence(s)

AK049051, BB647467, BC024727, BE943952

UniProtKB/Swiss-Prot

Q8BPU7

Conserved Domains (1) summary

cd13359
Location:66 → 195

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

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_000079.7 Reference GRCm39 C57BL/6J

Range

20274677..20792523

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516544.4 → XP_006516607.1 engulfment and cell motility protein 1 isoform X1

See identical proteins and their annotated locations for XP_006516607.1

UniProtKB/TrEMBL

Q571D6

Conserved Domains (3) summary

cd13359
Location:561 → 690

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:318 → 496

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:116 → 294

DUF3361; Domain of unknown function (DUF3361)
XM_006516547.3 → XP_006516610.1 engulfment and cell motility protein 1 isoform X2

See identical proteins and their annotated locations for XP_006516610.1

UniProtKB/Swiss-Prot

Q8BPU7, Q8BSY9, Q8K2C5, Q91ZU3

UniProtKB/TrEMBL

Q571D6

Conserved Domains (3) summary

cd13359
Location:546 → 675

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:303 → 481

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:116 → 279

DUF3361; Domain of unknown function (DUF3361)
XM_006516546.3 → XP_006516609.1 engulfment and cell motility protein 1 isoform X1

See identical proteins and their annotated locations for XP_006516609.1

UniProtKB/TrEMBL

Q571D6

Conserved Domains (3) summary

cd13359
Location:561 → 690

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:318 → 496

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:116 → 294

DUF3361; Domain of unknown function (DUF3361)
XM_006516545.5 → XP_006516608.1 engulfment and cell motility protein 1 isoform X1

See identical proteins and their annotated locations for XP_006516608.1

UniProtKB/TrEMBL

Q571D6

Conserved Domains (3) summary

cd13359
Location:561 → 690

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:318 → 496

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:116 → 294

DUF3361; Domain of unknown function (DUF3361)
XM_030247141.2 → XP_030103001.1 engulfment and cell motility protein 1 isoform X2

UniProtKB/Swiss-Prot

Q8BPU7, Q8BSY9, Q8K2C5, Q91ZU3

UniProtKB/TrEMBL

Q571D6

Conserved Domains (3) summary

cd13359
Location:546 → 675

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:303 → 481

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:116 → 279

DUF3361; Domain of unknown function (DUF3361)
XM_030247142.1 → XP_030103002.1 engulfment and cell motility protein 1 isoform X3

UniProtKB/TrEMBL

Q571D6

Conserved Domains (3) summary

cd13359
Location:465 → 594

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:222 → 400

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:20 → 198

DUF3361; Domain of unknown function (DUF3361)