Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9844
Gene name Gene Name - the full gene name approved by the HGNC.	Engulfment and cell motility 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ELMO1
Synonyms (NCBI Gene) Gene synonyms aliases	CED-12, CED12, ELMO-1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p14.2-p14.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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
MIRT714039	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT714038	hsa-miR-4267	HITS-CLIP	19536157
MIRT714037	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT727779	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727778	hsa-miR-27b-3p	HITS-CLIP	22473208
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
MIRT714039	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT714038	hsa-miR-4267	HITS-CLIP	19536157
MIRT714037	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT960811	hsa-miR-1293	CLIP-seq
MIRT960812	hsa-miR-3185	CLIP-seq
MIRT960813	hsa-miR-3646	CLIP-seq
MIRT960814	hsa-miR-3714	CLIP-seq
MIRT960815	hsa-miR-4483	CLIP-seq
MIRT960816	hsa-miR-1202	CLIP-seq
MIRT960817	hsa-miR-1237	CLIP-seq
MIRT960818	hsa-miR-1260	CLIP-seq
MIRT960819	hsa-miR-1260b	CLIP-seq
MIRT960820	hsa-miR-130a	CLIP-seq
MIRT960821	hsa-miR-130b	CLIP-seq
MIRT960822	hsa-miR-148a	CLIP-seq
MIRT960823	hsa-miR-148b	CLIP-seq
MIRT960824	hsa-miR-152	CLIP-seq
MIRT960825	hsa-miR-1825	CLIP-seq
MIRT960826	hsa-miR-185	CLIP-seq
MIRT960827	hsa-miR-188-3p	CLIP-seq
MIRT960828	hsa-miR-1915	CLIP-seq
MIRT960829	hsa-miR-199a-5p	CLIP-seq
MIRT960830	hsa-miR-199b-5p	CLIP-seq
MIRT960831	hsa-miR-19a	CLIP-seq
MIRT960832	hsa-miR-19b	CLIP-seq
MIRT960833	hsa-miR-301a	CLIP-seq
MIRT960834	hsa-miR-301b	CLIP-seq
MIRT960835	hsa-miR-3074-5p	CLIP-seq
MIRT960836	hsa-miR-3156-3p	CLIP-seq
MIRT960837	hsa-miR-3194-5p	CLIP-seq
MIRT960838	hsa-miR-365	CLIP-seq
MIRT960839	hsa-miR-3653	CLIP-seq
MIRT960840	hsa-miR-3658	CLIP-seq
MIRT960841	hsa-miR-3660	CLIP-seq
MIRT960842	hsa-miR-3666	CLIP-seq
MIRT960843	hsa-miR-3913-3p	CLIP-seq
MIRT960844	hsa-miR-3925-3p	CLIP-seq
MIRT960845	hsa-miR-3972	CLIP-seq
MIRT960846	hsa-miR-4256	CLIP-seq
MIRT960847	hsa-miR-4270	CLIP-seq
MIRT960848	hsa-miR-4295	CLIP-seq
MIRT960849	hsa-miR-4306	CLIP-seq
MIRT960850	hsa-miR-4434	CLIP-seq
MIRT960851	hsa-miR-4441	CLIP-seq
MIRT960852	hsa-miR-4516	CLIP-seq
MIRT960853	hsa-miR-4517	CLIP-seq
MIRT960854	hsa-miR-4519	CLIP-seq
MIRT960855	hsa-miR-451b	CLIP-seq
MIRT960856	hsa-miR-4526	CLIP-seq
MIRT960857	hsa-miR-4535	CLIP-seq
MIRT960858	hsa-miR-454	CLIP-seq
MIRT960859	hsa-miR-4644	CLIP-seq
MIRT960860	hsa-miR-4656	CLIP-seq
MIRT960861	hsa-miR-4688	CLIP-seq
MIRT960862	hsa-miR-4726-3p	CLIP-seq
MIRT960863	hsa-miR-4766-5p	CLIP-seq
MIRT960864	hsa-miR-4768-3p	CLIP-seq
MIRT960865	hsa-miR-4776-5p	CLIP-seq
MIRT960866	hsa-miR-489	CLIP-seq
MIRT960867	hsa-miR-548ag	CLIP-seq
MIRT960868	hsa-miR-548ai	CLIP-seq
MIRT960869	hsa-miR-665	CLIP-seq
MIRT960870	hsa-miR-711	CLIP-seq
MIRT960835	hsa-miR-3074-5p	CLIP-seq
MIRT1984759	hsa-miR-3179	CLIP-seq
MIRT1984760	hsa-miR-3685	CLIP-seq
MIRT1984761	hsa-miR-4299	CLIP-seq
MIRT1984762	hsa-miR-548q	CLIP-seq
MIRT1984763	hsa-miR-622	CLIP-seq
MIRT1984760	hsa-miR-3685	CLIP-seq
MIRT1984763	hsa-miR-622	CLIP-seq
MIRT2522924	hsa-miR-1294	CLIP-seq
MIRT2522925	hsa-miR-2115	CLIP-seq
MIRT2522926	hsa-miR-218	CLIP-seq
MIRT2522927	hsa-miR-3692	CLIP-seq
MIRT2522928	hsa-miR-4316	CLIP-seq
MIRT2522929	hsa-miR-4677-3p	CLIP-seq

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
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11595183
GO:0005886	Component	Plasma membrane	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006911	Process	Phagocytosis, engulfment	IGI	11595183
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	NAS	11595183
GO:0007015	Process	Actin filament organization	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016601	Process	Rac protein signal transduction	IGI	11595183
GO:0017124	Function	SH3 domain binding	IEA
GO:0017124	Function	SH3 domain binding	IPI	12029088
GO:0030029	Process	Actin filament-based process	IEA
GO:0030036	Process	Actin cytoskeleton organization	IGI	11595183
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IBA
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IDA	12134158
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IEA
GO:0048870	Process	Cell motility	IBA
GO:0048870	Process	Cell motility	IGI	11595183
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA

MIM	HGNC	e!Ensembl
606420	16286	ENSG00000155849

Protein

UniProt ID

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

MPPPADIVKVAIEWPGAYPKLMEIDQKKPLSAIIKEVCDGWSLANHEYFALQHADSSNFY
ITEKNRNEIKNGTILRLTTSPAQNAQQLHERIQSSSMDAKLEALKDLASLSRDVTFAQEF
INLDGISLLTQMVESGTERYQKLQKIMKPCFGDMLSFTLTAFVELMDHGIVSWDTFSVAF
IKKIASFVNKSAIDISILQRSLAILESMVLNSHDLYQKVAQEITIGQLIPHLQGSDQEIQ
TYTIAVINALFLKAPDERRQEMANILAQKQLRSIILTHVIRAQRAINNEMAHQLYVLQVL
TFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLG
FINHVNPAMDFTQTPPGMLALDNMLYFAKHHQDAYIRIVLENSSREDKHECPFGRSSIEL
TKMLCEILKVGELPSETCNDFHPMFFTHDRSFEEFFCICIQLLNKTWKEMRATSEDFNKV
MQVVKEQVMRALTTKPSSLDQFKSKLQNLSYTEILKIRQSERMNQEDFQSRPILELKEKI
QPEILELIKQQRLNRLVEGTCFRKLNARRRQDKFWYCRLSPNHKVLHYGDLEESPQGEVP
HDSLQDKLPVADIKAVVTGKDCPHMKEKGALKQNKEVLELAFSILYDSNCQLNFIAPDKH
EYCIWTDGLNALLGKDMMSDLTRNDLDTLLSMEIKLRLLDLENIQIPDAPPPIPKEPSNY
DFVYDCN

Sequence length

727

Interactions

View interactions

	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

Show/Hide Unknown Diseases (12)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Biliary Cholangitis	Primary biliary cholangitis	N/A	N/A	GWAS
Biliary Cirrhosis	Primary biliary cirrhosis	N/A	N/A	GWAS
Celiac disease	Celiac disease	N/A	N/A	GWAS
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Diabetes	Adipsin levels in type 2 diabetes, Type 2 diabetes nephropathy	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Psoriasis vulgaris	Psoriasis vulgaris	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Diabetic Retinopathy	Associate	40215453
Gastritis	Associate	28418867
Kidney Diseases	Associate	19183347, 20826100, 40271977
Kidney Failure Chronic	Associate	19183347, 20826100
Leukemia Myeloid Acute	Stimulate	25360637
Lung Diseases	Associate	23591873
Myopathies Structural Congenital	Associate	36310143
Neoplasm Metastasis	Associate	23591873
Neoplasms	Associate	29495584, 36310143
Ovarian Neoplasms	Associate	24819662
Renal Insufficiency Chronic	Associate	24253112
Stomach Neoplasms	Associate	28418867, 29844130
Tertiary Lymphoid Structures	Associate	23591873
Thyroid cancer follicular	Associate	24099521

ELMO1 (engulfment and cell motility 1)