ELMO1 (engulfment and cell motility 1)

2011-07-01 Affiliation

Identity

HGNC

ELMO1

LOCATION

7p14.2

LOCUSID

9844

ALIAS

CED-12,CED12,ELMO-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9844
MIM: 606420
HGNC: 16286
Ensembl: ENSG00000155849

Variants:

dbSNP: 9844
ClinVar: 9844
TCGA: ENSG00000155849
COSMIC: ELMO1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000155849	ENST00000310758	Q92556
ENSG00000155849	ENST00000310758	A4D1X5
ENSG00000155849	ENST00000396040	Q92556
ENSG00000155849	ENST00000396045	Q92556
ENSG00000155849	ENST00000420636	H7C0S6
ENSG00000155849	ENST00000424212	H7C0N5
ENSG00000155849	ENST00000433246	H7C3P3
ENSG00000155849	ENST00000442504	Q92556
ENSG00000155849	ENST00000442504	A4D1X5
ENSG00000155849	ENST00000445322	C9J5X3
ENSG00000155849	ENST00000448602	Q92556
ENSG00000155849	ENST00000448602	A4D1X5
ENSG00000155849	ENST00000453399	C9JB20
ENSG00000155849	ENST00000455119	C9IZR8
ENSG00000155849	ENST00000455879	C9JIW2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Shigellosis	KEGG	hsa05131
Chemokine signaling pathway	KEGG	ko04062
Chemokine signaling pathway	KEGG	hsa04062
Bacterial invasion of epithelial cells	KEGG	ko05100
Bacterial invasion of epithelial cells	KEGG	hsa05100
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
Host Interactions of HIV factors	REACTOME	R-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesis	REACTOME	R-HSA-164952
Nef and signal transduction	REACTOME	R-HSA-164944
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosis	REACTOME	R-HSA-2029480
Regulation of actin dynamics for phagocytic cup formation	REACTOME	R-HSA-2029482
Signal Transduction	REACTOME	R-HSA-162582
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
Signaling by PTK6	REACTOME	R-HSA-8848021
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases	REACTOME	R-HSA-8849471

References

Pubmed ID	Year	Title	Citations
23525077	2013	Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.	278
12134158	2002	Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex.	191
14638695	2004	Dock180 and ELMO1 proteins cooperate to promote evolutionarily conserved Rac-dependent cell migration.	85
16213822	2005	The DOCK180/Elmo complex couples ARNO-mediated Arf6 activation to the downstream activation of Rac1.	72
15793258	2005	Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy.	71
15793258	2005	Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy.	71
17671188	2007	ELMO1 and Dock180, a bipartite Rac1 guanine nucleotide exchange factor, promote human glioma cell invasion.	69
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17173036	2007	Shigella IpgB1 promotes bacterial entry through the ELMO-Dock180 machinery.	57
19651817	2009	Confirmation of genetic associations at ELMO1 in the GoKinD collection supports its role as a susceptibility gene in diabetic nephropathy.	51

Citation

Dessen P

ELMO1 (engulfment and cell motility 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-07-01

Online version: http://atlasgeneticsoncology.org/gene/52519/elmo1-(engulfment-and-cell-motility-1)