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FLASH GENE

Symbol

HESX1

contributors: mct/npt/pgu - updated : 03-01-2013

HGNC name	HESX homeobox 1
HGNC id	4877

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	APIT pituitary aplasia SOPT septooptic dysplasia
Location	3p14.3      Physical location : 57.231.946 - 57.234.280
Synonym name	homeo box (expressed in ES cells) 1
	RATHKE pouch homeobox
	homeo box (expressed in ES cells) 1
	homeobox protein ANF
Synonym symbol(s)	RPX, HESX, ANF, CPHD5, MGC138294

DNA

TYPE	functioning gene
STRUCTURE	2.34 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

Map	pter - D3S1616 - D3S3616 - [D3S3532 ] - D3S1295 - D3S300 - cen
Text	[HESX1 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003865 4 - 1182 NP_003856 - 185 - 2011 21325470

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 Digestive intestine         Reproductive female system uterus         female system ovary

cell lineage	ES (embryonic stem) cells
cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text	anterior extreme of the rostral neural, in the developing anterior pituitary fold, olfactory placode, prechordal in Rathke's pouch

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain, homeodomain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to murine embryonic stem cells

Homologene

FAMILY

ANF homeobox family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in normal development of the forebrain, eyes and other anterior and midline structures (olfactory placodes and pituitary gland)
	RNA polymerase 2 transcription factor, repressor of PROP1-mediated gene stimulation
	might play a role in the maintenance of the anterior pituitary cell types and function, as well as in the differentiation of pituitary adenomas
	required to establish binding to a portion of the N-terminus of DNMT1 and its catalytic domain in the C-terminus
	conserved vertebrate-specific transcription factor that is required for forebrain development
	novel function in mediating repression of Wnt/CTNNB target activation in the developing forebrain

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

formation of a heterodimer between HESX1 and PROP1 provides a condition in which, in the early pituitary primordium, HESX1 alters its repressive role to an active one by forming a heterodimer with newly appearing PROP1 so that PROP1 finally replaces HESX1 to advance to the middle stage of pituitary development

INTERACTION

DNA

binding

RNA

small molecule

protein	interacting with OTX2
	interacting with DNMT1 (HESX1-DNMT1 complexes co-localise in the nucleus, suggesting a novel mechanism for the repressing properties of HESX1)
	in the presence of PROP1, HESX1 develops to bind to an inverted TAAT motif by forming a heterodimer
	possible synergistic gene dosage-dependent interaction between HESX1 and TCF3, a transcriptional repressor of Wnt target genes, to maintain anterior forebrain identity

cell & other

REGULATION

repressed by

during pituitary organogenesis

ASSOCIATED DISORDERS

corresponding disease(s)

SOPT , APIT

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mouse embryos deficient for Hesx1 exhibit a variable degree of forebrain defects