MYG1 (MYG1 Exonuclease)
A mitochondrial genome maintenance exonuclease involved in RNA processing and cellular stress response
Gene Information Card
| Symbol | MYG1 |
|---|---|
| Full Name | MYG1 exonuclease |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 153571 ncbi.nlm.nih.gov/gene/153571 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9H0L4 |
| OMIM ID | 616985 |
| HGNC ID | 29163 |
| Aliases | C12orf10, MYG1, SLC35A4 |
Description
MYG1 encodes a mitochondrial exonuclease involved in RNA processing and mitochondrial genome maintenance. The protein localizes to mitochondria and is implicated in cellular stress responses and RNA metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disorders | Impaired RNA processing due to MYG1 dysfunction | Inferred from functional studies (UniProt) |
| Cancer (various) | Altered expression and potential mutations affecting mitochondrial function | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • exonuclease activity (GO:0004527) | • mitochondrion (GO:0005739) |
| • mRNA processing (GO:0006397) | • cellular response to DNA damage stimulus (GO:0006974) |
Pathways
• Mitochondrial RNA processing
• DNA damage response
Protein Summary
MYG1 is a 45 kDa mitochondrial exonuclease that processes RNA substrates, contributing to mitochondrial genome stability and cellular stress responses. It contains a conserved exonuclease domain and is ubiquitously expressed with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYG1 Knockout HEK293 Cell Line | EDJ-KQ2882 | Human | 60314 | Details Get a Quote |
| MYG1 Knockout A-549 Cell Line | EDJ-KQ23938 | Human | 60314 | Details Get a Quote |
| MYG1 Knockout HCT 116 Cell Line | EDJ-KQ23939 | Human | 60314 | Details Get a Quote |
| MYG1 Knockout HeLa Cell Line | EDJ-KQ23940 | Human | 60314 | Details Get a Quote |
