TACO1
Translational Activator of Cytochrome c Oxidase 1
Gene Information Card
| Symbol | TACO1 |
|---|---|
| Full Name | Translational Activator of Cytochrome c Oxidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 51204 ncbi.nlm.nih.gov/gene/51204 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q9BSH4 |
| OMIM ID | 612958 |
| HGNC ID | 23516 |
| Aliases | COXPD7, MGC12972 |
Description
TACO1 encodes a mitochondrial protein that specifically activates translation of the mitochondrial-encoded cytochrome c oxidase subunit 1 (COX1). It is required for proper assembly and function of mitochondrial complex IV (cytochrome c oxidase). Mutations in TACO1 cause mitochondrial complex IV deficiency, leading to Leigh syndrome and other mitochondrial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 7 (COXPD7) | Loss-of-function mutations impair COX1 translation, reducing complex IV activity | OMIM #612958 |
| Leigh syndrome | Defective mitochondrial energy production due to COX deficiency | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 8.2 | Medium |
| Heart | 7.5 | Medium |
| Liver | 5.1 | Low |
| Brain | 6.8 | Medium |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.0 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cells |
| SH-SY5Y | 7.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472C>T (p.Arg158Trp) | Missense | Rare | Loss of function; reduced COX1 translation |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair TACO1 activity, reducing COX1 translation and complex IV assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial translational activation | • cytochrome c oxidase assembly |
| • mitochondrion | • translation activator activity |
Pathways
• Mitochondrial complex IV assembly
• Oxidative phosphorylation
Protein Summary
TACO1 is a 30 kDa mitochondrial matrix protein that specifically binds to the 5' untranslated region of COX1 mRNA to promote its translation. It is essential for the synthesis of COX1, a core subunit of cytochrome c oxidase. Loss of TACO1 function leads to complex IV deficiency and mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TACO1 Knockout HEK293 Cell Line | EDJ-KQ10972 | Human | 51204 | Details Get a Quote |
| TACO1 Knockout A-549 Cell Line | EDJ-KQ38793 | Human | 51204 | Details Get a Quote |
| TACO1 Knockout HCT 116 Cell Line | EDJ-KQ38794 | Human | 51204 | Details Get a Quote |
| TACO1 Knockout HeLa Cell Line | EDJ-KQ38795 | Human | 51204 | Details Get a Quote |
