LHX3 Gene Summary [Human]
This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | LHX3 |
| Official Name | LIM homeobox 3 [Source:HGNC Symbol;Acc:HGNC:6595] |
| Ensembl ID | ENSG00000107187 |
| Bio databases IDs | |
| Aliases | LIM homeobox 3 |
| Synonyms | CPHD3, DKFZp762A2013, LIM3, LIM homeobox 3, LIM homeobox protein 3, mLIM3, P-LIM |
| 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 LHX3 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 regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- double-stranded DNA binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- basic domain
- homeodomain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- prostate cancer
- combined pituitary hormone deficiency type 3
- atrial fibrillation
- adrenal cortical hyperplasia
- androgenic alopecia
- dwarfism
- combined pituitary hormone deficiency
role in cell
- expression in
- apoptosis
- replication in
- number
- differentiation
- abnormal morphology
- lack
- transactivation in
- guidance
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
- intracellular space
- nucleoplasm
- nuclear matrix
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LHX3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear development
- medial motor column neuron differentiation
- motor axon guidance
- spinal cord association neuron differentiation
- neuron differentiation
- thyroid-stimulating hormone-secreting cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- placenta development
- somatotropin secreting cell differentiation
- spinal cord motor neuron cell fate specification
- prolactin secreting cell differentiation
- organ morphogenesis
- regulation of transcription from RNA polymerase II promoter
- ventral spinal cord interneuron specification
- positive regulation of transcription, DNA-dependent
- negative regulation of apoptotic process
- apoptotic process
- lung development
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- 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
- transcription coactivator binding