STOML1
Stomatin Like 1
Gene Information Card
| Symbol | STOML1 |
|---|---|
| Full Name | Stomatin Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 93637 ncbi.nlm.nih.gov/gene/93637 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9UBI4 |
| OMIM ID | 615910 |
| HGNC ID | 20211 |
| Aliases | hSTOML1, SLP-1, STOML1 |
Description
STOML1 (Stomatin Like 1) is a protein-coding gene located on chromosome 15q24.1. It encodes a member of the stomatin family of integral membrane proteins, which are involved in ion channel regulation, lipid raft organization, and mechanosensation. STOML1 is widely expressed in various tissues and is implicated in cellular processes including endocytosis and vesicle trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Liver | 6.7 | Low |
| Lung | 14.8 | Medium |
| Muscle | 9.4 | Low |
| Pancreas | 11.3 | Medium |
| Skin | 13.0 | Medium |
| Spleen | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 12.3 | Medium expression |
| K562 | 9.8 | Low expression |
| MCF7 | 14.1 | Medium expression |
| SH-SY5Y | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | missense | <0.01% | Unknown functional effect |
| c.512G>A (p.Arg171Gln) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) | • endocytosis (GO:0006897) |
| • transport vesicle (GO:0030133) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
STOML1 is a 35 kDa integral membrane protein belonging to the stomatin family. It contains a conserved stomatin domain and is localized to the plasma membrane and intracellular vesicles. The protein is thought to modulate ion channel activity and participate in endocytic trafficking, though its precise molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STOML1 Knockout HEK293 Cell Line | EDJ-KQ6573 | Human | 9399 | Details Get a Quote |
| STOML1 Knockout A-549 Cell Line | EDJ-KQ30781 | Human | 9399 | Details Get a Quote |
| STOML1 Knockout HCT 116 Cell Line | EDJ-KQ30782 | Human | 9399 | Details Get a Quote |
| STOML1 Knockout HeLa Cell Line | EDJ-KQ30783 | Human | 9399 | Details Get a Quote |
