MSX1 Gene Summary [Human]
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MSX1 |
| Official Name | msh homeobox 1 [Source:HGNC Symbol;Acc:HGNC:7391] |
| Ensembl ID | ENSG00000163132 |
| Bio databases IDs | |
| Aliases | msh homeobox 1 |
| Synonyms | ECTD3, HOX7, Hox7.1, HYD1, msh, msh homeobox 1, STHAG1 |
| 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 MSX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Msx homology domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- alpha helix
- p53 binding
- protein binding
- sequence-specific 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
- primary ovarian cancer
- hypoplastic enamel-onycholysis-hypohidrosis syndrome
- cyanosis
- selective tooth agenesis type 1
- growth failure
- orofacial cleft 5
- cleft face
- hypodontia
- Huntington disease
- cleft palate
role in cell
- expression in
- apoptosis
- activation in
- proliferation
- survival
- transcription in
- differentiation
- cell cycle progression
- growth
- morphogenesis
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic nail plate morphogenesis
- cell surface receptor signaling pathway involved in heart development
- inner ear development
- positive regulation of mesenchymal cell apoptotic process
- negative regulation of cell proliferation
- palate development
- bone morphogenesis
- signal transduction involved in regulation of gene expression
- anterior/posterior pattern specification
- transcription from RNA polymerase II promoter
- nose development
- middle ear morphogenesis
- positive regulation of cell cycle
- odontogenesis of dentin-containing tooth
- epithelial to mesenchymal transition involved in endocardial cushion formation
- positive regulation of transcription from RNA polymerase II promoter
- face morphogenesis
- mesenchymal cell apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- midbrain development
- forebrain development
- stem cell differentiation
- negative regulation of cell growth
- in utero embryonic development
- regulation of odontogenesis
- positive regulation of odontogenesis
- BMP signaling pathway
- mammary gland epithelium development
- protein localization to nucleus
- embryonic forelimb morphogenesis
- embryonic hindlimb morphogenesis
- positive regulation of DNA damage response, signal transduction by p53 class mediator
- cell morphogenesis
- cardiac conduction system development
- cartilage morphogenesis
- regulation of transcription from RNA polymerase II promoter
- muscle organ development
- negative regulation of gene expression
- positive regulation of BMP signaling pathway
- negative regulation of striated muscle cell differentiation
- embryonic morphogenesis
- negative regulation of apoptotic process
- protein stabilization
- mesenchymal cell proliferation
- activation of meiosis
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- nuclear periphery
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- p53 binding
- protein binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- transcription 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity