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Protein: HESX1_HUMAN

Homeobox expressed in ES cells 1

FUNCTION: Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation (By similarity). more...

SUBUNIT: Can form heterodimers with PROP1 in binding to DNA (By similarity). Interacts with TLE1.

SUBCELLULAR LOCATION: Nucleus (Probable). DEVELOPMENTAL STAGE: Strongly expressed in Rathke pouch in seven- week-old embryo.

DISEASE: Defects in HESX1 are a cause of septooptic dysplasia (SOD) [MIM:182230]; also known as de Morsier syndrome. SOD is a rare autosomal recessive disease. SOD is characterized by optic nerve hypoplasia, absence of the corpus callosum and hypoplasia of the pituitary gland with panhypopopituitarism.

DISEASE: Defects in HESX1 are a cause of growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230].

DISEASE: Defects in HESX1 are the cause of pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230]. This disorder is manifested by deficiencies in anterior pituitary tropic hormones. week-old embryo.

SIMILARITY: Belongs to the ANF homeobox family.

SIMILARITY: Contains 1 homeobox DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HESX1";

GENE SYNONYMS: HANF.

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Homo sapiens

Gene Symbol:

  • HESX1

Synonyms:

  • hAnf
  • Homeobox protein ANF

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