Hesx1 Gene Summary [Mouse]

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within with a negative effect on canonical Wnt signaling pathway and gene expression. Acts upstream of or within several processes, including ERK1 and ERK2 cascade; cell surface receptor signaling pathway; and endocrine system development. Located in nucleus. Is expressed in several structures, including early conceptus; embryo ectoderm; embryo endoderm; genitourinary system; and mesendoderm. Used to study hypopituitarism and septooptic dysplasia. Human ortholog(s) of this gene implicated in septooptic dysplasia. Orthologous to human HESX1 (HESX homeobox 1). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Hesx1
Official Name
homeobox gene expressed in ES cells [Source:MGI Symbol;Acc:MGI:96071]
Ensembl ID
ENSMUSG00000040726
Bio databases IDs NCBI: 15209 Ensembl: ENSMUSG00000040726
Aliases homeobox gene expressed in ES cells
Synonyms ANF, CPHD5, HES-1, HESX homeobox 1, homeobox gene expressed in ES cells, RGD1563858, RPX
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse 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 mouse 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.
regulates
regulated by
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
phenotypes
  • abnormal forebrain development
  • abnormal neural tube morphology
  • preweaning lethality complete penetrance
  • abnormal Rathke's pouch development
  • abnormal adenohypophysis morphology
  • abnormal anterior commissure morphology
  • abnormal anterior eye segment morphology
  • abnormal corpus callosum morphology
  • abnormal craniofacial morphology
  • abnormal dorsal telencephalic commissure morphology
  • abnormal eye development
  • abnormal eye morphology
  • abnormal forebrain morphology
  • abnormal frontonasal prominence morphology
  • abnormal hypothalamus morphology
  • abnormal midbrain-hindbrain boundary development
  • abnormal nasal cavity morphology
  • abnormal nasal pit morphology
  • abnormal nasal placode morphology
  • abnormal nose morphology
  • abnormal olfactory epithelium morphology
  • abnormal optic cup morphology
  • abnormal optic vesicle formation
  • abnormal pituitary gland morphology
  • abnormal septum pellucidum morphology
  • abnormal telencephalon development
  • abnormal telencephalon morphology
  • absent Rathke's pouch
  • absent anterior commissure
  • absent corpus callosum
  • absent frontonasal prominence
  • absent hippocampal commissure
  • absent otic vesicle
  • absent pituitary infundibular stalk
  • anophthalmia
  • bifurcated Rathke's pouch
  • decreased embryonic neuroepithelium thickness
  • decreased forebrain size
  • ectopic adenohypophysis
  • ectopic pituitary gland
  • enophthalmos
  • microcephaly
  • microphthalmia
  • neonatal lethality incomplete penetrance
  • olfactory bulb hypoplasia
  • perinatal lethality complete penetrance
  • postnatal lethality incomplete penetrance
  • short snout
  • small adenohypophysis
  • small embryonic telencephalon
  • small vomeronasal organ
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 mouse 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

Gene-Specific Assays for Results You Can Trust

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