HESX1 Gene Summary [Human]
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HESX1 |
| Official Name | HESX homeobox 1 [Source:HGNC Symbol;Acc:HGNC:4877] |
| Ensembl ID | ENSG00000163666 |
| Bio databases IDs | |
| Aliases | HESX homeobox 1 |
| Synonyms | ANF, CPHD5, HES-1, HESX homeobox 1, homeobox gene expressed in ES cells, RGD1563858, RPX |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HESX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Eh1 motif
- nucleic acid binding
- double-stranded DNA binding
- protein homodimerization
- chromatin binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- DNA binding
Pathways
Biological processes and signaling networks where the HESX1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- septo-optic dysplasia
- combined pituitary hormone deficiency type 1
- anophthalmia
- hypoplasia
- enophthalmos
- combined pituitary hormone deficiency type 5
- hereditary disorder
- microphthalmia
- growth hormone deficiency with pituitary anomalies
- microcephaly
role in cell
- differentiation
- hyperproduction
- neural cell differentiation
- response by
- quantity
- production in
- development
- maintenance
- pluripotency
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HESX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- stem cell maintenance
- regulation of embryonic development
- nose development
- brain development
- forebrain morphogenesis
- pituitary gland development
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- ERK1 and ERK2 cascade
- thyroid gland development
- gonad development
- stem cell differentiation
- leukemia inhibitory factor signaling pathway
- otic vesicle formation
- camera-type eye development
- cellular response to cadmium ion
- gene expression
- canonical Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein homodimerization activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity