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FLASH GENE
Symbol HESX1 contributors: mct/npt/pgu - updated : 03-01-2013
HGNC name HESX homeobox 1
HGNC id 4877
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 ]
    Physical map
    WNT5A 3p21.1 wingless-type MMTV integration site family, member 5A CAST 5q15-q21 calpastatin C1orf1 1p36.2 chromosome 1 open reading frame 1 RAP140 3p21.31 retinoblastoma-associated protein 140 ARHGEF3 3p21-p13 Rho guanine nucleotide exchange factor (GEF) 3 SPATA12 3p21.2 spermatogenesis associated 12 IL17RD 3p21.1 interleukin 17 receptor D HESX1 3p21.2-p21.1 homeo box (expressed in ES cells) 1 APPL 3p21.1-p14.3 homeo box (expressed in ES cells) 1 ASB14 3p21.1 ankyrin repeat and SOCS box-containing 14 FLJ40427 3p21.2 hypothetical protein FLJ40427 FLJ44290 3p21.2 FLJ44290 protein DKFZp667B1218 3p21.2 hypothetical protein DKFZp667B1218 ARF4 3p21.2-p21.1 ADP-ribosylation factor 4 FLJ34969 3p21.2 hypothetical protein FLJ34969 SLMAP 3p21.2-p14.3 sarcolemma associated protein LOC344797 3p21.2 similar to peptidylprolyl isomerase A FLNB 3p14.3 filamin B, beta (actin binding protein 278) DNASE1L3 3p21.1-p14.3 deoxyribonuclease I-like 3 ABHD6 3p21.2 abhydrolase domain containing 6 RPP14 3p21.2 ribonuclease P (14kD) PXK 3p21.2 PX domain containing serine/threonine kinase PDHB 3p21.1-p14.3 pyruvate dehydrogenase (lipoamide) beta KCTD6 3p21.2 potassium channel tetramerisation domain containing 6 ACOX2 3p14.3 acyl-Coenzyme A oxidase 2, branched chain TU3A 3p21.1 Homo sapiens TU3A protein (TU3A), mRNA. LOC389126 3 LOC389126 FAM3D 3p21.1 family with sequence similarity 3, member D FLJ42117 3p21.2 FLJ42117 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1182 - 185 - 2011 21325470
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
    Reproductivefemale systemuterus   
     female systemovary   
    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