TOMM5: Translocase of Outer Mitochondrial Membrane 5
A key component of the mitochondrial protein import machinery
Gene Information Card
| Symbol | TOMM5 |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.2 |
| NCBI Gene ID | 401505 ncbi.nlm.nih.gov/gene/401505 |
| Ensembl ID | ENSG00000136872 |
| UniProt ID | Q8N4H5 |
| OMIM ID | 616816 |
| HGNC ID | 28331 |
| Aliases | TOM5, CGI-34, HSPC014 |
Description
TOMM5 encodes a small subunit of the translocase of the outer mitochondrial membrane (TOM) complex, which is essential for importing nuclear-encoded proteins into mitochondria. The protein is a component of the TOM receptor complex and facilitates the recognition and translocation of precursor proteins across the outer mitochondrial membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex deficiency | Impaired protein import due to TOMM5 dysfunction | PMID: 25609768 |
| Encephalopathy, progressive, with or without lipodystrophy | Disrupted mitochondrial import leading to cellular energy deficit | PMID: 25609768 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Heart | 10.8 | Medium |
| Brain | 8.5 | Medium |
| Kidney | 9.1 | Medium |
| Skeletal muscle | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | High expression |
| HEK293 | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing mitochondrial import.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for TOMM5.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial outer membrane translocase complex | • protein import into mitochondrial matrix |
| • mitochondrion | • protein transmembrane transporter activity |
Pathways
• Mitochondrial protein import
• TOM complex assembly
Protein Summary
TOMM5 is a 6 kDa integral membrane protein of the mitochondrial outer membrane. It forms part of the TOM complex, interacting with TOMM40 and TOMM22 to create a channel for precursor protein translocation. The protein contains a single transmembrane domain and a short cytosolic N-terminus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMM5 Knockout HEK293 Cell Line | EDJ-KQ11642 | Human | 401505 | Details Get a Quote |
| TOMM5 Knockout HCT 116 Cell Line | EDJ-KQ39998 | Human | 401505 | Details Get a Quote |
| TOMM5 Knockout HeLa Cell Line | EDJ-KQ39999 | Human | 401505 | Details Get a Quote |
| TOMM5 Knockout A-549 Cell Line | EDJ-KQ38700 | Human | 401505 | Details Get a Quote |
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