SMTNL1: Smoothelin-like 1 Gene
A smooth muscle-associated gene encoding a calmodulin-binding protein involved in contractile regulation.
Gene Information Card
| Symbol | SMTNL1 |
|---|---|
| Full Name | Smoothelin-like 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 219537 ncbi.nlm.nih.gov/gene/219537 |
| Ensembl ID | ENSG00000187764 |
| UniProt ID | Q6P5W5 |
| OMIM ID | 617420 |
| HGNC ID | HGNC:28479 |
| Aliases | CH1, smoothelin-like 1, smoothelin-like protein 1 |
Description
SMTNL1 (smoothelin-like 1) is a protein-coding gene located on chromosome 11q13.1. The encoded protein is a calmodulin-binding protein expressed predominantly in smooth muscle tissues. It is involved in the regulation of smooth muscle contraction and relaxation through interaction with calmodulin and modulation of myosin light chain kinase activity. SMTNL1 has been implicated in vascular and visceral smooth muscle function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered smooth muscle contractility via calmodulin binding; potential dysregulation of vascular tone. | Limited; inferred from expression and functional studies. |
| Asthma | Modulation of airway smooth muscle contraction; SMTNL1 expression changes may affect bronchoconstriction. | Limited; based on tissue expression and animal models. |
| Gastrointestinal motility disorders | Involvement in visceral smooth muscle regulation; altered expression may contribute to dysmotility. | Limited; expression data from smooth muscle tissues. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle (aorta) | 12.5 | Medium |
| Smooth muscle (colon) | 10.8 | Medium |
| Smooth muscle (bladder) | 9.2 | Medium |
| Heart | 2.1 | Low |
| Skeletal muscle | 1.5 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells (primary) | 15.3 | High expression |
| Colonic smooth muscle cells (primary) | 11.0 | Medium expression |
| HEK293 | 0.5 | Low expression |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% (gnomAD) | Unknown; predicted possibly damaging |
| c.325G>A (p.Val109Met) | Missense | <0.01% (gnomAD) | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SMTNL1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SMTNL1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in SMTNL1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Smooth muscle contraction (Reactome: R-HSA-445355)
• Calmodulin signaling (Reactome: R-HSA-111997)
Protein Summary
The SMTNL1 protein (UniProt Q6P5W5) is a 185-amino acid calmodulin-binding protein predominantly expressed in smooth muscle. It modulates smooth muscle contraction by interacting with calmodulin and regulating myosin light chain kinase activity. The protein is localized in the cytoplasm and is involved in the fine-tuning of contractile responses in vascular and visceral smooth muscles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMTNL1 Knockout HEK293 Cell Line | EDJ-KQ8208 | Human | 219537 | Details Get a Quote |
| SMTNL1 Knockout HeLa Cell Line | EDJ-KQ59086 | Human | 219537 | Details Get a Quote |
| SMTNL1 Knockout A-549 Cell Line | EDJ-KQ67562 | Human | 219537 | Details Get a Quote |
| SMTNL1 Knockout HCT 116 Cell Line | EDJ-KQ75956 | Human | 219537 | Details Get a Quote |
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