TMOD1: Tropomodulin 1 – Actin Cytoskeleton Regulation
Key regulator of actin filament length and stability in erythrocytes and muscle cells
Gene Information Card
| Symbol | TMOD1 |
|---|---|
| Full Name | tropomodulin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 7111 ncbi.nlm.nih.gov/gene/7111 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | P28289 |
| OMIM ID | 190930 |
| HGNC ID | 11871 |
| Aliases | TMOD, E-Tmod, D9S46E |
Description
TMOD1 encodes tropomodulin 1, a member of the tropomodulin family that caps the pointed end of actin filaments, preventing elongation and depolymerization. It is essential for maintaining the structural integrity of the erythrocyte membrane skeleton and for regulating actin filament length in muscle and non-muscle cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spherocytosis (rare variant) | Loss of TMOD1 function disrupts actin filament capping, leading to membrane instability and spherical erythrocytes. | ClinVar; PMID: 23441117 |
| Hemolytic anemia | Defective erythrocyte membrane skeleton due to TMOD1 mutations causes increased red cell fragility. | OMIM #190930; PMID: 23441117 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Blood (erythrocytes) | 8.2 | Medium |
| Brain | 3.1 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.2 | High expression; model for erythroid differentiation |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; predicted loss of function |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | Altered actin binding; associated with spherocytosis |
| c.487_489del (p.Lys163del) | in-frame deletion | <0.01% | Disrupts tropomyosin binding; reduced capping activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish actin capping (e.g., start codon loss) lead to membrane instability and hemolytic anemia.
Gain of Function (GOF)
Not reported for TMOD1.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg42Cys) may interfere with wild-type TMOD1 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • actin filament capping | • actin cytoskeleton organization |
| • actin filament binding | • tropomyosin binding |
| • cytoskeleton | • plasma membrane |
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663213)
• Erythrocyte membrane skeleton (KEGG hsa04611)
Protein Summary
Tropomodulin 1 is a 359-amino acid protein that binds to the pointed end of actin filaments and requires tropomyosin for high-affinity capping. It is highly expressed in erythrocytes and striated muscle, where it controls filament length and mechanical stability. Mutations are linked to hereditary spherocytosis and hemolytic anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMOD1 Knockout HEK293 Cell Line | EDJ-KQ5944 | Human | 7111 | Details Get a Quote |
| TMOD1 Knockout A-549 Cell Line | EDJ-KQ28219 | Human | 7111 | Details Get a Quote |
| TMOD1 Knockout HCT 116 Cell Line | EDJ-KQ29497 | Human | 7111 | Details Get a Quote |
| TMOD1 Knockout HeLa Cell Line | EDJ-KQ29498 | Human | 7111 | Details Get a Quote |
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