Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 9844, updated on 25-Jul-2014
Official Symbol
ELMO1provided by HGNC
Official Full Name
engulfment and cell motility 1provided by HGNC
Primary source
HGNC:16286
See related
Ensembl:ENSG00000155849; HPRD:12102; 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]
See ELMO1 in Epigenomics, MapViewer
Location:
7p14.1
Exon count:
28
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (36852906..37449326, 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 (neutrophil) Neighboring gene AOAH intronic transcript 1 (non-protein coding) Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 18 Neighboring gene microRNA 1200 Neighboring gene ELMO1 antisense RNA 1 Neighboring gene ribosomal protein S17 pseudogene 13 Neighboring gene ribosomal protein S10 pseudogene 14 Neighboring gene G protein-coupled receptor 141 Neighboring gene NECAP endocytosis associated 1 pseudogene 1 Neighboring gene uncharacterized LOC101928643

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 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 Protein 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...
  • 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
  • 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 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 
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 
cellular component movement IGI
Inferred from Genetic Interaction
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
 
phagocytosis, engulfment IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
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
engulfment and cell motility protein 1
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 proteins identical to 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
    Conserved Domains (1) summary
    cd13359
    Location:66195
    Blast Score: 624
    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 proteins identical to 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/TrEMBL
    A4D1X5
    UniProtKB/Swiss-Prot
    Q92556
    Conserved Domains (3) summary
    cd13359
    Location:546675
    Blast Score: 639
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:300482
    Blast Score: 495
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:114281
    Blast Score: 665
    DUF3361; Domain of unknown function (DUF3361)
  3. NM_001206482.1NP_001193411.1  engulfment and cell motility protein 1 isoform 1

    See proteins identical to 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/TrEMBL
    A4D1X5
    UniProtKB/Swiss-Prot
    Q92556
    Conserved Domains (3) summary
    cd13359
    Location:546675
    Blast Score: 639
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:300482
    Blast Score: 495
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:114281
    Blast Score: 665
    DUF3361; Domain of unknown function (DUF3361)
  4. NM_014800.10NP_055615.8  engulfment and cell motility protein 1 isoform 1

    See proteins identical to 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/TrEMBL
    A4D1X5
    UniProtKB/Swiss-Prot
    Q92556
    Conserved Domains (3) summary
    cd13359
    Location:546675
    Blast Score: 639
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:300482
    Blast Score: 495
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:114281
    Blast Score: 665
    DUF3361; Domain of unknown function (DUF3361)
  5. NM_130442.3NP_569709.1  engulfment and cell motility protein 1 isoform 2

    See proteins identical to 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
    Conserved Domains (1) summary
    cd13359
    Location:66195
    Blast Score: 624
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    36852906..37449326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249920.1XP_005249977.1  

    See proteins identical to XP_005249977.1

    UniProtKB/TrEMBL
    A4D1X5
    UniProtKB/Swiss-Prot
    Q92556
    Conserved Domains (3) summary
    cd13359
    Location:546675
    Blast Score: 639
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:300482
    Blast Score: 495
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:114281
    Blast Score: 665
    DUF3361; Domain of unknown function (DUF3361)
  2. XM_005249919.1XP_005249976.1  

    See proteins identical to XP_005249976.1

    UniProtKB/TrEMBL
    A4D1X5
    UniProtKB/Swiss-Prot
    Q92556
    Related
    ENSP00000312185, OTTHUMP00000128209, ENST00000310758, OTTHUMT00000219830
    Conserved Domains (3) summary
    cd13359
    Location:546675
    Blast Score: 639
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:300482
    Blast Score: 495
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:114281
    Blast Score: 665
    DUF3361; Domain of unknown function (DUF3361)
  3. XM_006715805.1XP_006715868.1  

    See proteins identical to XP_006715868.1

    UniProtKB/TrEMBL
    A4D1X5
    UniProtKB/Swiss-Prot
    Q92556
    Conserved Domains (3) summary
    cd13359
    Location:546675
    Blast Score: 639
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:300482
    Blast Score: 495
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:114281
    Blast Score: 665
    DUF3361; Domain of unknown function (DUF3361)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    36771444..37368530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

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