ALX1 Gene Summary [Human]
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ALX1 |
| Official Name | ALX homeobox 1 [Source:HGNC Symbol;Acc:HGNC:1494] |
| Ensembl ID | ENSG00000180318 |
| Bio databases IDs | |
| Aliases | ALX homeobox 1 |
| Synonyms | ALX homeobox 1, C130005I02, CART1, CART1X, FND3, HEL23 |
| 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 ALX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- OAR motif
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- protein homodimerization
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- neoplasia
- cancer
- melanoma cancer
- herniation
- diabetic nephropathy
- meroanencephaly
- melanoma
- exencephaly
- cyanosis
role in cell
- expression in
- invasion
- formation in
- formation
- epithelial-mesenchymal transition
- growth
- development
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
- Golgi Apparatus
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of epithelial to mesenchymal transition
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- embryonic skeletal system morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- Golgi apparatus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity