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    ELMO1 engulfment and cell motility 1 [ Homo sapiens (human) ]

    Gene ID: 9844, updated on 18-Mar-2017
    Official Symbol
    ELMO1provided by HGNC
    Official Full Name
    engulfment and cell motility 1provided by HGNC
    Primary source
    HGNC:HGNC:16286
    See related
    Ensembl:ENSG00000155849 MIM:606420; Vega:OTTHUMG00000023701
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CED12; CED-12; ELMO-1
    Summary
    This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Orthologs
    Location:
    7p14.2-p14.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (36852906..37449409, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36892511..37488895, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene acyloxyacyl hydrolase Neighboring gene AOAH intronic transcript 1 Neighboring gene uncharacterized LOC105375235 Neighboring gene nucleophosmin 1 pseudogene 18 Neighboring gene microRNA 1200 Neighboring gene ELMO1 antisense RNA 1 Neighboring gene ribosomal protein S17 pseudogene 13 Neighboring gene RNA, U6 small nuclear 565, pseudogene Neighboring gene ribosomal protein S10 pseudogene 14 Neighboring gene NECAP endocytosis associated 1 pseudogene 1 Neighboring gene G protein-coupled receptor 141

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    NHGRI GWA Catalog
    A genome-wide association study of the Protein C anticoagulant pathway.
    NHGRI GWA Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    NHGRI GWA Catalog
    Genome-wide association study of smoking behaviours in patients with COPD.
    NHGRI GWA Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
    NHGRI GWA Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Interaction of HIV-1 Nef with a protein complex, which includes Rac2, DOCK2, and ELMO1, activates Rac activity in T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
      Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Chemokine signaling pathway, organism-specific biosystem (from KEGG)
      Chemokine signaling pathway, organism-specific biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • Chemokine signaling pathway, conserved biosystem (from KEGG)
      Chemokine signaling pathway, conserved biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
      Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
    • HIV Infection, organism-specific biosystem (from REACTOME)
      HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
    • Host Interactions of HIV factors, organism-specific biosystem (from REACTOME)
      Host Interactions of HIV factors, organism-specific biosystemLike all viruses, HIV-1 must co-opt the host cell macromolecular transport and processing machinery. HIV-1 Vpr and Rev proteins play key roles in this co-optation. Efficient HIV-1 replication likewis...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Infectious disease, organism-specific biosystem (from REACTOME)
      Infectious disease, organism-specific biosystem
      Infectious disease
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Nef and signal transduction, organism-specific biosystem (from REACTOME)
      Nef and signal transduction, organism-specific biosystemNef interferes with cellular signal transduction pathways in a number of ways. Nef is associated with lipid rafts through its amino-terminal myristoylation and a proline-rich SH3-binding domain. Thes...
    • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
      Neurotrophic factor-mediated Trk receptor signaling
    • PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystem (from REACTOME)
      PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystemPTK6 promotes cell motility and migration by regulating the activity of RHO GTPases RAC1 (Chen et al. 2004) and RHOA (Shen et al. 2008). PTK6 inhibits RAS GTPase activating protein RASA1 (Shen et al....
    • Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RAC1 activity, organism-specific biosystem
      Regulation of RAC1 activity
    • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
      Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
    • Shigellosis, organism-specific biosystem (from KEGG)
      Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by PTK6, organism-specific biosystem (from REACTOME)
      Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by focal adhesion kinase, organism-specific biosystem
      Signaling events mediated by focal adhesion kinase
    • The role of Nef in HIV-1 replication and disease pathogenesis, organism-specific biosystem (from REACTOME)
      The role of Nef in HIV-1 replication and disease pathogenesis, organism-specific biosystemThe HIV-1 Nef protein is a 27-kDa myristoylated protein that is abundantly produced during the early phase of viral replication cycle. It is highly conserved in all primate lentiviruses, suggesting t...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0281, MGC126406

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    Rac protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    actin cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    cell motility IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    phagocytosis, engulfment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of defense response to virus by virus TAS
    Traceable Author Statement
    more info
     
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    guanyl-nucleotide exchange factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    engulfment and cell motility protein 1
    Names
    ced-12 homolog 1

    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_001039459.2NP_001034548.1  engulfment and cell motility protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001034548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC007349, BC064635, BI600726
      Consensus CDS
      CCDS5450.1
      UniProtKB/Swiss-Prot
      Q92556
      Related
      ENSP00000379355, OTTHUMP00000207065, ENST00000396040, OTTHUMT00000337935
      Conserved Domains (1) summary
      cd13359
      Location:66195
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    2. NM_001206480.2NP_001193409.1  engulfment and cell motility protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001193409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 4 and 5 encode the same isoform (1).
      Source sequence(s)
      AC007349, AF398885, AK314349, DA238090, DA312397
      Consensus CDS
      CCDS5449.1
      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Related
      ENSP00000394458, OTTHUMP00000207056, ENST00000448602, OTTHUMT00000337919
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)
    3. NM_001206482.1NP_001193411.1  engulfment and cell motility protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001193411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 4 and 5 encode the same isoform (1).
      Source sequence(s)
      AC007349, AK291784
      Consensus CDS
      CCDS5449.1
      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Related
      ENSP00000406952, OTTHUMP00000207060, ENST00000442504, OTTHUMT00000337924
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)
    4. NM_014800.10NP_055615.8  engulfment and cell motility protein 1 isoform 1

      See identical proteins and their annotated locations for NP_055615.8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 4 and 5 encode the same isoform.
      Source sequence(s)
      AC007349, AC078843, AL136787
      Consensus CDS
      CCDS5449.1
      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Related
      ENSP00000312185, OTTHUMP00000128209, ENST00000310758, OTTHUMT00000219830
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)
    5. NM_130442.3NP_569709.1  engulfment and cell motility protein 1 isoform 2

      See identical proteins and their annotated locations for NP_569709.1

      Status: REVIEWED

      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 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC007349, BC077074, DC366992
      UniProtKB/Swiss-Prot
      Q92556
      Related
      ENSP00000379360, OTTHUMP00000128236, ENST00000396045, OTTHUMT00000219863
      Conserved Domains (1) summary
      cd13359
      Location:66195
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

    RNA

    1. NR_038120.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' exon structure and lacks an alternate internal exon compared to variant 1 and lacks an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007349, AK301151, DC366992

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      36852906..37449409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515654.1XP_011513956.1  engulfment and cell motility protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011513956.1

      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)
    2. XM_005249919.2XP_005249976.1  engulfment and cell motility protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005249976.1

      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)
    3. XM_017012838.1XP_016868327.1  engulfment and cell motility protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)
    4. XM_017012839.1XP_016868328.1  engulfment and cell motility protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)
    5. XM_006715805.1XP_006715868.1  engulfment and cell motility protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006715868.1

      UniProtKB/Swiss-Prot
      Q92556
      UniProtKB/TrEMBL
      A4D1X5
      Conserved Domains (3) summary
      cd13359
      Location:546675
      PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
      pfam04727
      Location:305476
      ELMO_CED12; ELMO/CED-12 family
      pfam11841
      Location:115279
      DUF3361; Domain of unknown function (DUF3361)

    RNA

    1. XR_001744894.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      36891996..37488314 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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