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FLASH GENE

Symbol

ELMOD1

contributors: mct - updated : 25-09-2018

HGNC name	ELMO domain containing 1
HGNC id	25334

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

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 Hearing/Equilibrium ear         Homo sapiens Nervous brain hindbrain medulla oblongata     Homo sapiens   brain limbic system hippocampus     Homo sapiens Respiratory respiratory tract larynx

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens Nervous Purkinje cell Homo sapiens Nervous pyramidal cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a highly conserved arginine residue within the GAP domain was critically important to the GAP activity of ELMOD1 and ELMOD2

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus,nucleoplasm
text	ELMOD1 is an Arf family GAP at the Golgi

basic FUNCTION	involved in phagocytosis and apoptosis
	ELMOD1 and ELMOD2 recently were shown to function as GTPase-activating proteins (GAPs) for the Arf family of small G proteins
	acts as a GTPase-activating protein for ARF6 in hair cells, and its developmentally regulated GAP activity is required to stabilize apical structures of hair cells

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ELMOD1 is a GTPase-activating protein in hair cells for the small GTP-binding protein ARF6, known to participate in actin assembly and membrane trafficking
	by inactivating ARF6, ELMOD1 apparently controls the extent of actin remodeling in hair cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutations in Elmod1 lead to deafness and vestibular dysfunction in mice