InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HESX1

Summary

InnateDB Protein

IDBP-41068.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HESX1

Protein Name

HESX homeobox 1

Synonyms

ANF; CPHD5; RPX;

Species

Homo sapiens

Ensembl Protein

ENSP00000295934

InnateDB Gene

IDBG-41066 (HESX1)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Septooptic dysplasia (SOD) [MIM:182230]: A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. {ECO:0000269PubMed:11136712, ECO:0000269PubMed:9620767}. Note=The disease is caused by mutations affecting the gene represented in this entry.Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]: A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. {ECO:0000269PubMed:11136712, ECO:0000269PubMed:17148560}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid- stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. {ECO:0000269PubMed:11136712, ECO:0000269PubMed:14561704}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0043565	sequence-specific DNA binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0007420	brain development
GO:0030916	otic vesicle formation
GO:0043584	nose development
GO:0045892	negative regulation of transcription, DNA-templated
GO:0048853	forebrain morphogenesis