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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 Show/Hide all (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 Show/Hide all (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
PF04727 ELMO_CED12 303 → 481 ELMO/CED-12 family Family
PF11841 DUF3361 115 → 280 Domain of unknown function (DUF3361) 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 Pathway Reactome Pathway
Chemokine signaling pathway Nef and signal transduction
Efferocytosis Regulation of actin dynamics for phagocytic cup formation
Bacterial invasion of epithelial cells VEGFA-VEGFR2 Pathway
Shigellosis PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
Salmonella infection FCGR3A-mediated phagocytosis
Yersinia infection  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (34)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 23535033, 35589863
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog 25574825
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog 30572963, 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (86)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Of Esophagus Esophageal Cancer CTD_human_DG 23525077
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 23535033
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASDB_DG 23535033
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31804889
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30643265
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 34101054 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 25901943 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31804889
★★★★★
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only