ARX Gene Summary [Human]
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | ARX |
| Official Name | aristaless related homeobox [Source:HGNC Symbol;Acc:HGNC:18060] |
| Ensembl ID | ENSG00000004848 |
| Bio databases IDs | |
| Aliases | aristaless related homeobox, cancer/testis antigen 121 |
| Synonyms | aristaless related homeobox, Arx1, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, RGD1562672 |
| 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 ARX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aristaless domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- OAR motif
- transcription regulator
- Eh1 motif
- nucleic acid binding
- nuclear localization sequence
- octapeptide domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- polyalanine repeat
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight gain
- obesity
- X-linked myoclonic epilepsy with generalized spasticity and intellectual disability
- X-linked lissencephaly with ambiguous genitalia
- X-linked mental retardation
- seizures
- nystagmus
- X-linked subgroup of west syndrome
- hereditary disorder
- learning disability
role in cell
- proliferation
- cell death
- morphology
- quantity
- differentiation
- migration
- cell cycle progression
- development
- loss
- length
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- organ growth
- cell proliferation in forebrain
- globus pallidus development
- positive regulation of organ growth
- cerebral cortex GABAergic interneuron migration
- embryonic olfactory bulb interneuron precursor migration
- axon guidance
- cerebral cortex tangential migration
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- lipid digestion
- positive regulation of gene expression
- epithelial cell fate commitment
- regulation of epithelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- 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 positive regulation of transcription
- 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