ELMO1 - engulfment and cell motility 1 Gene

Homo sapiens

Also known as CED12; CED-12; ELMO-1

Gene ID: 9844 | Gene type: protein coding

About ELMO1

Cytogenetic location: 7p14.2-p14.1 Genomic coordinates (GRCh38): 7:36,852,906-37,449,326 (from NCBI)

This gene has 19 transcripts (splice variants), 239 orthologues and 5 paralogues. Broad expression in brain (RPKM 17.7), thyroid (RPKM 16.1) and 22 other tissues.

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]

ELMO1 Products(5)

mRNA	Protein	Name
NM_001039459.3	NP_001034548.1	engulfment and cell motility protein 1 isoform 2
NM_001206480.2	NP_001193409.1	engulfment and cell motility protein 1 isoform 1
NM_001206482.2	NP_001193411.1	engulfment and cell motility protein 1 isoform 1
NM_014800.11	NP_055615.8	engulfment and cell motility protein 1 isoform 1
NM_130442.4	NP_569709.1	engulfment and cell motility protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	12029088	GOA
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	12134158	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12029088	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Rac protein signal transduction	IGI IGI: Inferred from genetic interaction	11595183	GOA
involved in actin cytoskeleton organization	IGI IGI: Inferred from genetic interaction	11595183	GOA
involved in cell motility	IGI IGI: Inferred from genetic interaction	11595183	GOA
involved in phagocytosis, engulfment	IGI IGI: Inferred from genetic interaction	11595183	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11595183	GOA
part of guanyl-nucleotide exchange factor complex	IDA IDA: Inferred from direct assay	12134158	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11595183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ELMO1 Protein Structure

DUF3361

ELMO_CED12

0
200
400
600
727 a.a.

Protein Preferred Names

Protein Names

engulfment and cell motility protein 1

ced-12 homolog 1

ELMO1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ELMO1	Q92556	TRIM54	Homo sapiens	Q9BYV2	Y2H Prey Pooling	25416956
Intra	ELMO1	Q92556	TRIM54	Homo sapiens	Q9BYV2	Y2H Array	25416956
Intra	ELMO1	Q92556	HCK	Homo sapiens	P08631	Anti Bait CoIP	12029088
Intra	ELMO1	Q92556	HCK	Homo sapiens	P08631	Pull Down	12029088
Intra	ELMO1	Q92556	ANXA2	Homo sapiens	P07355	Confocal	30853625
Intra	ELMO1	Q92556	ANXA2	Homo sapiens	P07355	Anti Tag CoIP	30853625
Intra	ELMO1	Q92556	RHOG	Homo sapiens	P84095	Pull Down	12879077
Intra	ELMO1	Q92556	DOCK1	Homo sapiens	Q14185	Anti Tag CoIP	33961781
Intra	ELMO1	Q92556	DOCK1	Homo sapiens	Q14185	Anti Tag CoIP	30853625
Intra	ELMO1	Q92556	DOCK1	Homo sapiens	Q14185	Anti Bait CoIP	18768751
Intra	ELMO1	Q92556	DOCK1	Homo sapiens	Q14185	Anti Tag CoIP	28514442
Intra	ELMO1	Q92556	DOCK1	Homo sapiens	Q14185	Pull Down	18768751
Intra	ELMO1	Q92556	ZNF398	Homo sapiens	Q8TD17	Y2H Array	31515488
Intra	ELMO1	Q92556	ZNF398	Homo sapiens	Q8TD17	Anti Tag CoIP	33961781
Intra	ELMO1	Q92556	ZNF398	Homo sapiens	Q8TD17	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Diaphanospondylodysostosis

Vertebral Ossification, Defect In, With Nephrogenic Rests	DSD
Defect In Vertebral Ossification With Nephrogenic Rests

Immunodeficiency 40

Dock2 Deficiency	IMD40
Immunodeficiency, Type 40

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04311	ELMO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ELMO1	MGD	MGI:2153044
Bos taurus	ELMO1	VGNC	VGNC:28438
Rattus norvegicus	ELMO1	RGD	RGD:1308182
Canis familiaris	ELMO1	VGNC	VGNC:40309
Macaca mulatta	ELMO1	VGNC	VGNC:72051
Felis catus	ELMO1	VGNC	VGNC:61815

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