LMOD1 (Leiomodin 1) Gene
Actin-binding protein involved in smooth muscle contraction and cytoskeletal organization
Gene Information Card
| Symbol | LMOD1 |
|---|---|
| Full Name | Leiomodin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 25802 ncbi.nlm.nih.gov/gene/25802 |
| Ensembl ID | ENSG00000163431 |
| UniProt ID | Q6P5Q4 |
| OMIM ID | 602715 |
| HGNC ID | 6648 |
| Aliases | Lmod1, leiomodin, smooth muscle |
Description
LMOD1 encodes leiomodin 1, an actin-binding protein predominantly expressed in smooth muscle cells. It regulates actin filament nucleation and elongation, contributing to the contractile apparatus and cytoskeletal dynamics. Mutations in LMOD1 are associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and other smooth muscle disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) | Loss-of-function mutations impair actin filament assembly in smooth muscle, leading to reduced contractility and gastrointestinal/urinary dysfunction. | ClinVar, OMIM |
| Visceral myopathy | Disrupted actin dynamics in smooth muscle cells cause impaired peristalsis and hollow organ dilation. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle (aorta) | 45.2 | High |
| Stomach | 38.1 | High |
| Small intestine | 32.7 | High |
| Colon | 29.5 | High |
| Urinary bladder | 25.8 | High |
| Heart | 2.1 | Low |
| Skeletal muscle | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells (primary) | 52.4 | Highest expression |
| Colonic smooth muscle cells (primary) | 48.9 | High |
| Bladder smooth muscle cells (primary) | 44.6 | High |
| HEK293 | 0.8 | Negligible |
| HeLa | 0.5 | Negligible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Impaired actin binding |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg42*, p.Leu168fs) lead to truncated or absent protein, causing MMIHS.
Gain of Function (GOF)
No gain-of-function mutations reported in LMOD1.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly116Arg) may act in a dominant-negative manner by disrupting actin filament nucleation.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin filament binding (GO:0051015) |
| • actin filament polymerization (GO:0030048) | • muscle contraction (GO:0006936) |
| • cytoskeleton (GO:0005856) |
Pathways
• Actin nucleation and elongation (Reactome: R-HSA-5663213)
• Smooth muscle contraction (KEGG: hsa04270)
Protein Summary
Leiomodin 1 is a 634-amino acid protein with an N-terminal actin-binding domain and a C-terminal tropomyosin-binding region. It nucleates actin filaments and promotes their elongation, essential for the assembly of the smooth muscle contractile apparatus. The protein is highly expressed in visceral and vascular smooth muscle, with low levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMOD1 Knockout HEK293 Cell Line | EDJ-KQ3871 | Human | 25802 | Details Get a Quote |
| ELMOD1 Knockout HEK293 Cell Line | EDJ-KQ12496 | Human | 55531 | Details Get a Quote |
| ELMOD1 Knockout HCT 116 Cell Line | EDJ-KQ42695 | Human | 55531 | Details Get a Quote |
| LMOD1 Knockout HeLa Cell Line | EDJ-KQ55818 | Human | 25802 | Details Get a Quote |
| ELMOD1 Knockout HeLa Cell Line | EDJ-KQ56597 | Human | 55531 | Details Get a Quote |
| LMOD1 Knockout A-549 Cell Line | EDJ-KQ64311 | Human | 25802 | Details Get a Quote |
| ELMOD1 Knockout A-549 Cell Line | EDJ-KQ65097 | Human | 55531 | Details Get a Quote |
| LMOD1 Knockout HCT 116 Cell Line | EDJ-KQ72764 | Human | 25802 | Details Get a Quote |
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