LMNB1 Gene Summary [Human]
This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | LMNB1 |
| Official Name | lamin B1 [Source:HGNC Symbol;Acc:HGNC:6637] |
| Ensembl ID | ENSG00000113368 |
| Bio databases IDs | |
| Aliases | lamin B1 |
| Synonyms | ADLD, ADLDAT, LAMIN, LAMIN B, lamin B1, LMN, LMN2, LMNB, MCPH26 |
| 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 LMNB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CAAX box
- double-stranded DNA binding
- nuclear localization sequence
- enzyme binding
- Lamin Tail Domain
- tail domain
- protein binding
- Intermediate filament protein
- sequence-specific DNA binding
- structural molecule
Pathways
Biological processes and signaling networks where the LMNB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- neoplasia
- chronic sinusitis
- respiratory failure
- hereditary disorder
- autosomal dominant primary microcephaly 26
- microcephaly
- astrocytosis
- neonatal late-onset sepsis
- adult onset autosomal dominant leukodystrophy
role in cell
- expression in
- phosphorylation in
- activation in
- apoptosis
- G1 phase
- growth
- cell death
- number
- differentiation
- proliferation
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
- interchromatin granule cluster fractions
- nuclear fraction
- nuclear membrane fraction
- nuclear matrix fraction
- detergent-insoluble fractions
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Cytoplasm
- cytosol
- nuclear pores
- inner nuclear membrane
- nucleoplasm
- nucleoli
- nuclear rim
- nuclear envelope
- nuclear matrix
- nuclear lamina
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LMNB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nuclear pore localization
- nuclear envelope organization
- cytoskeleton organization
- heterochromatin assembly
- nuclear migration
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nucleus
- nuclear membrane
- nuclear inner membrane
- lamin filament
- membrane
- nuclear matrix
- nuclear lamina
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- phospholipase binding
- structural constituent of cytoskeleton