LMX1B Gene Summary [Human]
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | LMX1B |
| Official Name | LIM homeobox transcription factor 1 beta [Source:HGNC Symbol;Acc:HGNC:6654] |
| Ensembl ID | ENSG00000136944 |
| Bio databases IDs | |
| Aliases | LIM homeobox transcription factor 1 beta |
| Synonyms | FSGS10, Icst, LIM homeobox transcription factor 1 beta, LIM homeobox transcription factor 1 β, LMX1.1, LMX1.2, NPS1 |
| 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 LMX1B 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
- non-insulin-dependent diabetes mellitus
- pain
- breast carcinoma
- chronic obstructive pulmonary disease
- nail-patella syndrome
- multiple system atrophy
- hereditary disorder
- microphthalmia
- neurodevelopmental disorder
- open-angle glaucoma
role in cell
- expression in
- cell death
- production in
- apoptosis
- phosphorylation in
- survival
- morphology
- migration
- proliferation
- formation
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
- nuclear fraction
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LMX1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- dopaminergic neuron differentiation
- neuron differentiation
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- dorsal/ventral pattern formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- metal ion binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity