LHX1 Gene Summary [Human]
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]
Details
| Type | Processed Transcript |
| Official Symbol | LHX1 |
| Official Name | LIM homeobox 1 [Source:HGNC Symbol;Acc:HGNC:6593] |
| Ensembl ID | ENSG00000273706 |
| Bio databases IDs | |
| Aliases | LIM homeobox 1 |
| Synonyms | LIM-1, LIM homeobox 1, LIM homeobox protein 1 |
| 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 LHX1 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
- nucleic acid binding
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- double-stranded DNA binding
- 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
- cancer
- breast cancer
- advanced cancer
- acephaly
- osteoporosis
role in cell
- expression in
- invasion by
- migration
- differentiation
- quantity
- formation
- survival
- motility
- clonogenicity
- stabilization
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
- vesicles
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LHX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- head development
- ventral spinal cord development
- post-embryonic development
- anterior/posterior pattern specification
- transcription from RNA polymerase II promoter
- forebrain regionalization
- dorsal/ventral pattern formation
- anterior/posterior axis specification
- metanephric glomerulus development
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- kidney development
- gastrulation with mouth forming second
- ectoderm formation
- endoderm formation
- somite rostral/caudal axis specification
- cerebellar Purkinje cell differentiation
- cerebellum development
- neuron differentiation
- embryonic pattern specification
- cell-cell signaling
- anatomical structure formation involved in morphogenesis
- pattern specification process
- paramesonephric duct development
- organ morphogenesis
- positive regulation of branching involved in ureteric bud morphogenesis
- positive regulation of nephron tubule epithelial cell differentiation
- nephric duct morphogenesis
- mesonephric duct development
- regulation of gene expression
- metanephric ureteric bud development
- cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation
- oviduct development
- cervix development
- vagina development
- motor axon guidance
- telencephalon development
- uterus development
- nervous system development
- anatomical structure morphogenesis
- epithelium development
- positive regulation of embryonic development
- S-shaped body morphogenesis
- metanephric S-shaped body morphogenesis
- metanephric renal vesicle morphogenesis
- comma-shaped body morphogenesis
- mesendoderm development
- spinal cord association neuron differentiation
- cellular response to fibroblast growth factor stimulus
- embryonic retina morphogenesis in camera-type eye
- regulation of transcription from RNA polymerase II promoter
- embryonic viscerocranium morphogenesis
- renal vesicle morphogenesis
- pronephros development
- ureter morphogenesis
- urogenital system development
- nephric duct elongation
- metanephric comma-shaped body morphogenesis
- ureteric bud development
- branching involved in ureteric bud morphogenesis
- positive regulation of gastrulation
- retina layer formation
- oviduct epithelium development
- uterine epithelium development
- positive regulation of anterior head development
- primitive streak formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- macromolecular complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity