TOM1 (Target of Myb1) Gene
A key regulator of endosomal trafficking and ubiquitin-mediated protein sorting
Gene Information Card
| Symbol | TOM1 |
|---|---|
| Full Name | Target of Myb1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 10043 ncbi.nlm.nih.gov/gene/10043 |
| Ensembl ID | ENSG00000100299 |
| UniProt ID | O60784 |
| OMIM ID | 604701 |
| HGNC ID | 11982 |
| Aliases | TOM1, SRCASM, TOM1A |
Description
TOM1 (Target of Myb1) encodes a protein involved in endosomal trafficking and ubiquitin-dependent sorting of membrane proteins. It functions as a component of the ESCRT-0 complex, facilitating the recognition of ubiquitinated cargo and its delivery to multivesicular bodies for lysosomal degradation. TOM1 also interacts with clathrin and other adaptors to regulate receptor recycling and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of TOM1 expression may alter growth factor receptor turnover, promoting oncogenic signaling. | COSMIC; literature |
| Neurodegenerative disorders | Impaired endosomal sorting due to TOM1 dysfunction can lead to accumulation of toxic protein aggregates. | UniProt; literature |
| Infectious diseases | TOM1 is exploited by certain viruses (e.g., HIV-1) to facilitate viral budding and immune evasion. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| A549 | 9.8 | Low expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown functional impact |
| c.1456C>T (p.Arg486Trp) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
| c.1892_1893insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in TOM1 are predicted to truncate the protein, impairing endosomal trafficking and ubiquitin binding.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for TOM1.
Dominant Negative (DN)
Missense mutations in the VHS domain may disrupt cargo recognition and exert dominant-negative effects on endosomal sorting.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal sorting complex required for transport (ESCRT)
• Clathrin-mediated endocytosis
• Ubiquitin-dependent protein degradation
Protein Summary
TOM1 is a 492-amino acid protein containing an N-terminal VHS domain and a C-terminal clathrin-binding motif. It localizes to endosomes and interacts with ubiquitinated cargo, clathrin, and other ESCRT components to facilitate sorting of membrane proteins for lysosomal degradation. TOM1 also plays a role in receptor downregulation and signal termination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOM1 Knockout HEK293 Cell Line | EDJ-KQ6239 | Human | 10043 | Details Get a Quote |
| TOM1L1 Knockout HEK293 Cell Line | EDJ-KQ6873 | Human | 10040 | Details Get a Quote |
| TOM1L2 Knockout HEK293 Cell Line | EDJ-KQ10488 | Human | 146691 | 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 |
| TOM1 Knockout A-549 Cell Line | EDJ-KQ31463 | Human | 10043 | Details Get a Quote |
| TOM1 Knockout HCT 116 Cell Line | EDJ-KQ31465 | Human | 10043 | Details Get a Quote |
| TOM1 Knockout HeLa Cell Line | EDJ-KQ31466 | Human | 10043 | Details Get a Quote |
| TOM1L2 Knockout A-549 Cell Line | EDJ-KQ37885 | Human | 146691 | Details Get a Quote |
| TOM1L2 Knockout HCT 116 Cell Line | EDJ-KQ37886 | Human | 146691 | Details Get a Quote |
| TOM1L2 Knockout HeLa Cell Line | EDJ-KQ37887 | Human | 146691 | Details Get a Quote |
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