TOM1L1 Gene
Target of Myb1 Like 1 Membrane Trafficking Protein
Gene Information Card
| Symbol | TOM1L1 |
|---|---|
| Full Name | Target of Myb1 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 10040 ncbi.nlm.nih.gov/gene/10040 |
| Ensembl ID | ENSG00000141198 |
| UniProt ID | Q6ZVM7 |
| OMIM ID | 615556 |
| HGNC ID | 11982 |
| Aliases | SHR5, TOM1L, PP10537 |
Description
TOM1L1 (Target of Myb1 Like 1) encodes a protein involved in clathrin-mediated endocytosis and intracellular membrane trafficking. It contains a VHS domain and a GAT domain, which mediate interactions with ubiquitin and endosomal sorting complexes. The protein is thought to regulate receptor signaling and degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect growth factor receptor trafficking | COSMIC mutation data |
| No specific disease association established | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Low |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney |
| HeLa | 8.2 | Cervical carcinoma |
| A549 | 7.9 | Lung carcinoma |
| K562 | 6.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown |
| c.1456C>T (p.Arg486Trp) | Missense | <0.01% | Unknown |
| c.1789_1790insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of endocytic function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • endocytosis (GO:0006897) |
| • protein transporter activity (GO:0008565) | • endosomal transport (GO:0016197) |
| • phosphatidylinositol binding (GO:0035091) |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Endosomal sorting complex required for transport (ESCRT)
Protein Summary
TOM1L1 is a 492-amino acid protein containing an N-terminal VHS domain and a central GAT domain. It localizes to endosomes and the trans-Golgi network, where it facilitates the sorting of ubiquitinated cargo for degradation. The protein interacts with clathrin and adaptor proteins to regulate receptor downregulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOM1L1 Knockout HEK293 Cell Line | EDJ-KQ6873 | Human | 10040 | Details Get a Quote |
| TOM1L1 Knockout A-549 Cell Line | EDJ-KQ31457 | Human | 10040 | Details Get a Quote |
| TOM1L1 Knockout HCT 116 Cell Line | EDJ-KQ31458 | Human | 10040 | Details Get a Quote |
| TOM1L1 Knockout HeLa Cell Line | EDJ-KQ31459 | Human | 10040 | Details Get a Quote |
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