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FLASH GENE

Symbol

ESX1

contributors: mct - updated : 28-06-2012

HGNC name	extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)
HGNC id	14865

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq22.2      Physical location : 103.494.719 - 103.499.599
Synonym name	extraembryonic, spermatogenesis, homeobox 1-like
Synonym symbol(s)	ESXR1, ESX1L

DNA

TYPE	functioning gene
STRUCTURE	4.88 kb     4 Exon(s)

MAPPING

cloned

linked

status

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_153448 4 - 1591 NP_703149 - 406 - -

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 hindbrain medulla oblongata     Reproductive female system placenta         male system male genital tract seminiferous tubule       male system testis

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatogonia

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	embryonic development, in distinct epidermal patterns in head, thorax and abdomen and in an endodermal pattern in the anterior intestinal tract,placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal 45-kDa fragment containing the paired-like homeodomain, localized to the nucleus, acting as a sequence-specific transcriptional repressor
	C-terminal 20-kDa fragment localizes to the cytoplasm and inhibits the degradation of mitotic cyclins, thereby inducing M phase cell-cycle arrest
	one OAR domain
	glutamic acid-rich and proline-rich N- and C-terminal regions
	12 repeats of a unique nine amino acid motif, PPMAP(V/L)PPG, located C-terminal to the homeodomain

HOMOLOGY

interspecies

ortholog to murine ESX1

Homologene

FAMILY

paired homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	homeoprotein involved in the morphogenesis of proximal and distal pattern elements in a subset of appendages
	plays a role in concerted regulation of the cell cycle and transcription in cells
	may be playing a role in post-meiotic germ cell development
	involved in placental development and spermatogenesis
	playing a potential role within the growth control mechanism of the fetus, through its effect on placental function
	required for the translocation of Mycobacterium tuberculosis or Mycobacterium marinum to the cytosol of host cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	specifically interacts with the TAATGTTATTA sequence that is present within the first intron of the K-ras gene termed REK, and represses KRAS transcription
	NRK and ESX1 may participate in the same signaling pathway that regulates placental development

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in human pre-term idiopathic fetal growth restriction

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	potentially reliable spermatogenesis molecular marker
Therapy target	potential clinical application of TAT-mediated transduction of N-ESX1 in the treatment of cancers with K-ras mutations

ANIMAL & CELL MODELS