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FLASH GENE

Symbol

EMX1

contributors: MCT/npt - updated : 16-01-2008

HGNC name	empty spiracles homeobox 1
HGNC id	3340

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2p13.2      Physical location : 73.144.603 - 73.162.020
Synonym name	empty spiracles homolog 1 (Drosophila)
	empty spiracles-like protein 1

DNA

TYPE	functioning gene
STRUCTURE	18.63 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004097 3 - 2188 NP_004088 - 290 - -

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 Nervous brain forebrain cerebral cortex     Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	in optic cup in early embryo, in the developing forebrain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain

HOMOLOGY

interspecies	homolog to Drosophila empty spiracles (ems)1,Dres 93
	homolog to murine Emx1
	homolog to C.elegans k09f5.4

Homologene

FAMILY

EMX homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	expressed in cell nuclei of the developing cerebral cortex and in the axons of the olfactory sensory neurons

basic FUNCTION	involved in brain development
	functioning in combinations with OTX1/2 to specify cells fates in the developing central nervous system
	suppress choroid plexus development and promote neuroepithelial cell fate
	homeodomain transcription factor involved in the development of olfactory neurons

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	neural development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deletion of Lhx2 with Emx1-cre at embryonic day 10.5 (E10.5) altered the fates of progenitors, causing them to generate three-layer cortex, phenocopying olfactory cortex rather than lateral neocortex (Chou 2009)