LMOD1 Gene Summary [Human]
The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LMOD1 |
| Official Name | leiomodin 1 [Source:HGNC Symbol;Acc:HGNC:6647] |
| Ensembl ID | ENSG00000163431 |
| Bio databases IDs | |
| Aliases | leiomodin 1 |
| Synonyms | 1D, 9530015K06Rik, D1, leiomodin 1, leiomodin 1 (smooth muscle), MMIHS3, SM-LMOD |
| Species | Human, Homo sapiens |
| Orthologies |
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insomnia
- Huntington disease
- colorectal cancer
- neuroticism
- megacystis-microcolon-intestinal hypoperistalsis syndrome type 3
- coronary artery disease
- endometrial cancer
- visceral myopathy type 1
- hydronephrosis
- tracheoesophageal fistula
regulates
- actin
- LMOD1
role in cell
- expression in
- formation in
- activity
- formation
- polymerization
- length
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoskeleton
- cellular membrane
- actin filaments
- sarcomere
- cytosol
- myofibrils
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LMOD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- myofibril assembly
- pointed-end actin filament capping
- muscle contraction
- actin nucleation
- positive regulation of actin filament polymerization
- actin filament organization
Cellular Component
Where in the cell the gene product is active
- striated muscle thin filament
- cytoskeleton
- membrane
- cytosol
- actin filament
- sarcomere
- myofibril
Molecular Function
What the gene product does at the molecular level
- actin binding
- tropomyosin binding