Lmna Gene Summary [Mouse]
This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
Details
| Type | Retained Intron |
| Official Symbol | Lmna |
| Official Name | lamin A [Source:MGI Symbol;Acc:MGI:96794] |
| Ensembl ID | ENSMUSG00000028063 |
| Bio databases IDs | |
| Aliases | lamin A |
| Synonyms | CDCD1, CDDC, CMD1A, CMT2B1, Dhe, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, Lamin A, LAMIN A/C, LAMININ A/C, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, Prelamin-A/C, PRO1 |
| Species | Mouse, Mus musculus |
| 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 mouse Lmna often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Crescentin protein
- Sumoylation motif
- Tropomyosin like
- coiled-coil domain
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- identical protein binding
- head domain
- protein phosphatase 1 binding
- CAAX box
- Lamin Tail Domain
- tail domain
- Intermediate filament protein
- structural molecule
- rod domain
- zinc metalloprotease Ste24 cleavage site
- Apolipoprotein A1/A4/E domain
Pathways
Biological processes and signaling networks where the Lmna gene in mouse 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
- obesity
- cancer
- neoplasia
- Charcot-Marie-Tooth disease type 2
- autosomal dominant Emery-Dreifuss muscular dystrophy type 2
- spindle cell neoplasm
- LMNA-related congenital muscular dystrophy
- cardiomyopathy
- epithelial cancer
- primary dilated cardiomyopathy
role in cell
- cell death
- proliferation
- differentiation
- quantity
- expression in
- apoptosis
- growth
- commitment
- survival
- phosphorylation in
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
- insoluble fractions
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Cytoplasm
- cell surface
- intranuclear region
- perinuclear region
- intermediate filaments
- cytosol
- nuclear foci
- nuclear pores
- inner nuclear membrane
- nucleoplasm
- nucleoli
- nuclear rim
- nuclear envelope
- nuclear scaffolds
- nuclear speckles
- nuclear matrix
- nuclear lamina
- chromatin
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lmna gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of release of cytochrome c from mitochondria
- negative regulation of cell proliferation
- nuclear migration
- cellular senescence
- nuclear pore localization
- nuclear envelope organization
- regulation of protein stability
- negative regulation of mesenchymal cell proliferation
- protein import into nucleus
- positive regulation of gene expression
- heterochromatin assembly
- negative regulation of extrinsic apoptotic signaling pathway
- ventricular cardiac muscle cell development
- cellular response to hypoxia
- regulation of cell migration
- protein localization to nucleus
- regulation of protein localization to nucleus
- establishment or maintenance of microtubule cytoskeleton polarity
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nucleus
- nuclear membrane
- site of double-strand break
- lamin filament
- nuclear speck
- cytosol
- nuclear matrix
- nuclear lamina
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural constituent of cytoskeleton