Gene Gene information from NCBI Gene database.
Entrez ID 9844
Gene name Engulfment and cell motility 1
Gene symbol ELMO1
Synonyms (NCBI Gene)
CED-12CED12ELMO-1
Chromosome 7
Chromosome location 7p14.2-p14.1
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
miRNA miRNA information provided by mirtarbase database.
92
miRTarBase ID miRNA Experiments Reference
MIRT714044 hsa-miR-21-3p HITS-CLIP 19536157
MIRT714043 hsa-miR-3591-3p HITS-CLIP 19536157
MIRT714042 hsa-miR-1323 HITS-CLIP 19536157
MIRT714041 hsa-miR-548o-3p HITS-CLIP 19536157
MIRT714040 hsa-miR-1226-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 12134158
GO:0005515 Function Protein binding IPI 12029088, 12134158, 12879077, 15247908, 15723800, 17960134, 18768751, 24567399, 25416956, 28514442, 30853625, 31515488, 33513601, 33961781
GO:0005737 Component Cytoplasm IDA 11595183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606420 16286 ENSG00000155849
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92556
Protein name Engulfment and cell motility protein 1 (Protein ced-12 homolog)
Protein function Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May en
PDB 2RQR , 2VSZ , 3A98 , 6JPP , 6TGB , 6TGC , 7DPA , 7Y4A , 8JHK , 8XM7 , 8ZJ2 , 8ZJI , 8ZJJ , 8ZJK , 8ZJL , 8ZJM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11841 DUF3361 115 280 Domain of unknown function (DUF3361) Family
PF04727 ELMO_CED12 303 481 ELMO/CED-12 family Family
PF16457 PH_12 548 674 Pleckstrin homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with a higher expression in the spleen and placenta.
Sequence
Sequence length 727
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Chemokine signaling pathway
Efferocytosis
Bacterial invasion of epithelial cells
Shigellosis
Salmonella infection
Yersinia infection
  Nef and signal transduction
Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of urinary bladder Uncertain significance rs141508815 RCV005928805
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23525077
Adenoma Associate 24099521
Arthritis Juvenile Associate 34101054
Arthritis Rheumatoid Associate 25901943
Breast Neoplasms Associate 23591873
Carcinogenesis Associate 36718103
Colorectal Neoplasms Associate 36310143
Diabetes Mellitus Type 1 Associate 19651817
Diabetes Mellitus Type 2 Associate 17653210, 19183347, 20826100, 40215453, 40271977
Diabetic Nephropathies Associate 17653210, 19183347, 19651817, 20299368, 20826100, 31909452, 32634861, 40271977