Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

ELMO1

contributors: mct - updated : 25-08-2014

HGNC name	engulfment and cell motility 1
HGNC id	16286

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014800 22 - 3727 NP_055615 - 727 - 2008 18768751 variant 1 NM_130442 7 - 2177 NP_569709 - 247 - 2008 18768751 variant 2 NM_001039459 7 - 2129 NP_001034548 - 247 - 2008 18768751 variant 3

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Nervous brain limbic system hippocampus   highly Homo sapiens Reproductive male system testis       Homo sapiens Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Reproductive Sertoli cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains	N-terminal amphiphatic alpha-helix, and point mutants of invariant hydrophobic AAs in the helix disrupt ELMO1-DOCK1 complex formation
	C-terminal 200 AAs comprising the ELMO1 PH domain involved in interaction with DOCK1 , and promote potentially spine morphogenesis in hippocampal neurons ; C-terminal Pro-rich tail of ELMO1 winds around the Src-homology 3 domain of DOCK2, and an intermolecular five-helix bundle is formed

HOMOLOGY

interspecies	ortholog to C.elegans
	ortholog to Drosophila Ced-12

intraspecies	paralog to ELMO2
	paralog to ELMO3

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	colocolizing with CRKII and DOCK1 to membrane ruffles

basic FUNCTION	upstream regulator of RAC1 required for engulfment of dying cells and for cell migration
	having roles in mediating intracellular RAC1 signaling
	engulfment protein that functions downstream of the phosphatidylserine receptor BAI1, and, along with DOCK1 and the GTPase RAC1, promotes internalization of the dying cells
	crucial role in the phagocytic clearance of apoptotic germ cells by Sertoli cells lining the seminiferous epithelium
	requirement in the Sertoli-cell-dependent homeostatic clearance of apoptotic germ cells, with consequences for sperm production
	seems to promote downstream activation of RAC1 during phagocytosis by Sertoli cells
	necessary for functions of DOCK1, functions in a complex with DOCK1 in spine morphogenesis through activating the RAC1 GTPase
	localizes to excitatory synapses and is required for spine formation in hippocampal neurons
	ELMO1 and MACF1 cooperate to promote the formation of membrane protrusions
	role for ELMO1, ELMO2, ELMO3 in protrusion stability by acting at the interface between the actin cytoskeleton and the microtubule network

CELLULAR PROCESS	cell life, cell death/apoptosis
	cell organization/biogenesis
	cell communication

PHYSIOLOGICAL PROCESS

text	cytoskeletal rearrangements during phagocytosis and cell motility in the late steps of the apoptotic process (complementation group 2 in C elegans)

PATHWAY

metabolism

signaling

signal transduction

a component	forms a trimeric complex with BAI1 and DOCK1
	ELMO1/DOCK1 complex functions through Rac1 in various cellular contexts including migration and phagocytosis

INTERACTION

DNA

RNA

small molecule

protein	interacting with CRK1 (CRKII) and with DOCK1
	activating RAC1
	association with DOCK2 critical for DOCK2-mediated Rac activation
	DOCK1-ELMO1 interaction is necessary to modulate actin cytoskeleton for phagocytosis and cell migration
	interacting with BAI1 (BAI1 interacts through its cytoplasmic tail with ELMO1, and can activate RAC1 through the ELMO1–DOCK1 complex, thereby promoting apoptotic cell phagocytosis)
	binds directly to the HCK SH3 domain and is phosphorylated by HCK
	interacting with DOCK1
	the entire regions of both DOCK2 and ELMO1 assemble to create a rigid structure, which is required for the DOCK2/ELMO1 binding
	MACF1 interacts with the polyproline region of ELMO1
	role for ELMO1 in controlling DOCK2 levels and DOCK2-dependent T cell migration in primary lymphocytes
	NCK1-ELMO1 interaction promoting RAC1 activation and cell motility
	DOCK1 is required for signaling by ELMO1-MACF1
	binding between ELMO1 and the Mediator complex subunit MED31 (ELMO1 is a novel regulator of MED31, revealing a previously unrecognized link between cytoplasmic signaling proteins and the mediator complex)
	ELMO1-interacting protein, ARHGEF16, functions synergistically with ELMO1 to promote clearance of apoptotic cells in a RHOG-dependent and DOCK1-independent manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function           fused with NAG in translocation, t(2;7)(p24.3;p14.2), in a case of acute myeloid leukemia transformed from myelodysplastic syndrome (

Susceptibility

to diabetic nephropathy

Variant & Polymorphism other	rs1345365 and rs10951509, both of which are located in intron 13 and are in strong pairwise linkage disequilibrium with diabetic nephropathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Elmo1-/- mice revealed a striking disruption of the normal cellular organization of the seminiferous epithelium