MYO19 (Myosin XIX): Mitochondrial Motor Protein and Its Role in Human Disease
A comprehensive biomedical overview of MYO19, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | MYO19 |
|---|---|
| Full Name | Myosin XIX |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 (GRCh38: 17:36,648,349-36,987,581) |
| NCBI Gene ID | 80179 ncbi.nlm.nih.gov/gene/80179 |
| Ensembl ID | ENSG00000141294 |
| UniProt ID | Q96H55 |
| OMIM ID | 617502 |
| HGNC ID | HGNC:29806 |
| Aliases | Myosin-19, MYO19, myosin XIX |
Description
MYO19 (myosin XIX) is an actin-based motor protein that specifically localizes to mitochondria, where it plays a critical role in mitochondrial transport, fission, and distribution within cells. It is encoded by the MYO19 gene located on chromosome 17q12. MYO19 contains an N-terminal motor domain (head) that binds actin and hydrolyzes ATP, followed by a neck region with IQ motifs, and a unique C-terminal tail that mediates mitochondrial anchoring. This protein is essential for proper mitochondrial dynamics, particularly in neuronal cells and during cell division. Dysregulation of MYO19 has been implicated in various cancers and neurological disorders, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered MYO19 expression affects mitochondrial distribution, impacting cell metabolism, apoptosis, and proliferation. | COSMIC database lists MYO19 mutations in multiple cancer types; overexpression observed in breast and lung cancer cell lines (COSMIC). |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Mitochondrial transport defects due to MYO19 dysfunction lead to synaptic energy deficits and oxidative stress. | Expression changes noted in brain tissues; functional studies in neurons show impaired mitochondrial movement (UniProt, PubMed). |
| Mitochondrial diseases | MYO19 mutations may disrupt mitochondrial fission/fusion balance, causing cellular energy failure. | ClinVar lists rare variants of uncertain significance; functional assays in cell models demonstrate mitochondrial fragmentation (ClinVar). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 6.8 | Low |
| Testis | 20.3 | High |
| Skeletal Muscle | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression; mitochondrial localization confirmed |
| SH-SY5Y | 18.7 | Neuronal cell line; high expression, critical for mitochondrial transport |
| MCF7 | 12.1 | Breast cancer cell line; elevated expression linked to proliferation |
| A549 | 9.8 | Lung cancer cell line; moderate expression |
| HEK293 | 7.3 | Low-moderate expression; used for functional studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (gnomAD) | Alters ATP binding; reduces motor activity in vitro |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Truncated protein; loss of mitochondrial targeting |
| c.2345C>T (p.Pro782Leu) | Missense | 0.005% | Disrupts tail domain; impairs mitochondrial binding |
| c.3456G>A (p.Val1152Met) | Missense | 0.02% | Uncertain effect; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Mutations that truncate the protein or disrupt the motor domain (e.g., frameshift, ATP-binding site mutations) lead to loss of mitochondrial transport function, causing mitochondrial clustering and cellular energy deficits.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in cancer may act as a dominant effect but not due to mutation.
Dominant Negative (DN)
Missense mutations in the tail domain may interfere with wild-type MYO19 binding to mitochondria, acting in a dominant-negative manner to disrupt mitochondrial dynamics.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial transport (Reactome: R-HSA-983189)
• Actin cytoskeleton regulation (Reactome: R-HSA-5663220)
• Mitochondrial fission (Reactome: R-HSA-983190)
Protein Summary
MYO19 is a 970-amino-acid protein with a molecular mass of ~110 kDa. It consists of an N-terminal motor domain (head) that binds actin and hydrolyzes ATP, a neck region with two IQ motifs that bind calmodulin, and a C-terminal tail that contains a mitochondria-binding domain. The tail domain is unique to MYO19 and is essential for its mitochondrial localization. MYO19 functions as a processive motor that transports mitochondria along actin filaments, and it also interacts with microtubule-based motors (kinesin/dynein) to coordinate mitochondrial movement. During mitosis, MYO19 ensures proper mitochondrial distribution to daughter cells. Its expression is highest in testis and brain, and it is upregulated in certain cancers, suggesting a role in tumor metabolism and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO19 Knockout HEK293 Cell Line | EDJ-KQ9473 | Human | 80179 | Details Get a Quote |
| MYO19 Knockout A-549 Cell Line | EDJ-KQ36179 | Human | 80179 | Details Get a Quote |
| MYO19 Knockout HCT 116 Cell Line | EDJ-KQ36180 | Human | 80179 | Details Get a Quote |
| MYO19 Knockout HeLa Cell Line | EDJ-KQ36181 | Human | 80179 | Details Get a Quote |
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