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

Gene ID: 140580, updated on 2-Nov-2024

Summary

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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 active in glutamatergic synapse and postsynapse. 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, Nov 2024]
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

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See Elmo1 in Genome Data Viewer
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_000079.7Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 141 Neighboring gene STARR-seq mESC enhancer starr_33803 Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 pseudogene Neighboring gene STARR-seq mESC enhancer starr_33804 Neighboring gene STARR-seq mESC enhancer starr_33805 Neighboring gene predicted gene 5446 Neighboring gene STARR-seq mESC enhancer starr_33809 Neighboring gene STARR-positive B cell enhancer ABC_E11780 Neighboring gene STARR-seq mESC enhancer starr_33810 Neighboring gene STARR-positive B cell enhancer ABC_E7207 Neighboring gene STARR-positive B cell enhancer ABC_E4052 Neighboring gene STARR-seq mESC enhancer starr_33811 Neighboring gene STARR-positive B cell enhancer ABC_E5371 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:20299067-20299268 Neighboring gene STARR-seq mESC enhancer starr_33815 Neighboring gene STARR-seq mESC enhancer starr_33817 Neighboring gene STARR-seq mESC enhancer starr_33818 Neighboring gene predicted gene, 32036 Neighboring gene STARR-seq mESC enhancer starr_33821 Neighboring gene STARR-seq mESC enhancer starr_33822 Neighboring gene predicted gene 7614 Neighboring gene STARR-seq mESC enhancer starr_33823 Neighboring gene acyloxyacyl hydrolase Neighboring gene STARR-seq mESC enhancer starr_33824 Neighboring gene STARR-seq mESC enhancer starr_33826 Neighboring gene predicted gene, 32242

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. Engulfment and Cell Motility Protein 1 Protects Against DSS-induced Colonic Injury in Mice via Rac1 Activation. Zheng XB, et al. J Crohns Colitis, 2019 Jan 1. PMID 30219846
  2. ELMO1 Regulates Autophagy Induction and Bacterial Clearance During Enteric Infection. Sarkar A, et al. J Infect Dis, 2017 Dec 19. PMID 29029244, Free PMC Article
  3. ELMO1 deficiency enhances platelet function. Patel A, et al. Blood Adv, 2019 Feb 26. PMID 30787021, Free PMC Article
  4. The interaction of enteric bacterial effectors with the host engulfment pathway control innate immune responses. Sayed IM, et al. Gut Microbes, 2021 Jan-Dec. PMID 34719317, Free PMC Article
  5. ELMO1 signaling is a promoter of osteoclast function and bone loss. Arandjelovic S, et al. Nat Commun, 2021 Aug 17. PMID 34404802, Free PMC Article

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ELMO1 Deficiency Reduces Neutrophil Chemotaxis in Murine Peritonitis.
    Title: ELMO1 Deficiency Reduces Neutrophil Chemotaxis in Murine Peritonitis.
  2. 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.
  3. 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.
  4. 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.
  5. ELMO1 signaling is a promoter of osteoclast function and bone loss.
    Title: ELMO1 signaling is a promoter of osteoclast function and bone loss.
  6. Host engulfment pathway controls inflammation in inflammatory bowel disease.
    Title: Host engulfment pathway controls inflammation in inflammatory bowel disease.
  7. 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.
  8. 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.
  9. 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.
  10. 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 (4) 
  • Targeted (5)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0281

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
  
enables SH3 domain binding ISO
Inferred from Sequence Orthology
more info
  
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
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 
involved_in 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 
involved_in regulation of postsynapse assembly IEA
Inferred from Electronic Annotation
more info
  
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
  
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)

  1. 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)

  2. 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
    Related
    ENSMUSP00000160033.1, ENSMUST00000249938.1
    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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    20274677..20792523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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)

  6. 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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BPU7.2 GenPept UniProtKB/Swiss-Prot:Q8BPU7

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