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

    Gene ID: 140580, updated on 27-Nov-2024

    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 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    engulfment and cell motility protein 1
    Names
    engulfment and cell motility 1, ced-12 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_080288.2NP_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:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:303481
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:116279
      DUF3361; Domain of unknown function (DUF3361)
    2. NM_198093.3NP_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:66195
      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_006516544.4XP_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:561690
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:318496
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:116294
      DUF3361; Domain of unknown function (DUF3361)
    2. XM_006516547.3XP_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:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:303481
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:116279
      DUF3361; Domain of unknown function (DUF3361)
    3. XM_006516546.3XP_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:561690
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:318496
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:116294
      DUF3361; Domain of unknown function (DUF3361)
    4. XM_006516545.5XP_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:561690
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:318496
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:116294
      DUF3361; Domain of unknown function (DUF3361)
    5. XM_030247141.2XP_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:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:303481
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:116279
      DUF3361; Domain of unknown function (DUF3361)
    6. XM_030247142.1XP_030103002.1  engulfment and cell motility protein 1 isoform X3

      UniProtKB/TrEMBL
      Q571D6
      Conserved Domains (3) summary
      cd13359
      Location:465594
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:222400
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:20198
      DUF3361; Domain of unknown function (DUF3361)