homeobox protein ANF; homeobox expressed in ES cells 1 (hAnf, HESX1)

Function

• required for normal development of the forebrain, eyes & other anterior structures including olfactory placodes & pituitary gland
• possible transcriptional repressor
• binds to palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'
• HESX1 & PROP1 bind as heterodimers on this palindromic site, &, in vitro, HESX1 can antagonize PROP1 activation
• can form heterodimers with PROP1 in binding to DNA
• interacts with TLE1

Structure

• belongs to the ANF homeobox family
• contains 1 homeobox DNA-binding domain

Compartment

• nucleus (probable)
• strongly expressed in Rathke pouch in 7-week-old embryo

Pathology

• defects in HESX1 are a cause of
  • septooptic dysplasia
  • combined pituitary hormone deficiency

More general terms

• homeobox protein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8820
• OMIM: https://mirror.omim.org/entry/182230
• OMIM: https://mirror.omim.org/entry/262600
• OMIM: https://mirror.omim.org/entry/601802
• UniProt: http://www.uniprot.org/uniprot/Q9UBX0.html