FASTKD5: FAST Kinase Domain-Containing Protein 5
Mitochondrial RNA-Binding Protein Involved in RNA Processing and Apoptosis
Gene Information Card
| Symbol | FASTKD5 |
|---|---|
| Full Name | FAST Kinase Domain-Containing Protein 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 60493 ncbi.nlm.nih.gov/gene/60493 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q7L8L6 |
| OMIM ID | 614507 |
| HGNC ID | 29169 |
| Aliases | KIAA0992, FLJ12529 |
Description
FASTKD5 encodes a protein containing a FAST kinase domain, localized to mitochondria. It is involved in mitochondrial RNA processing, specifically in the maturation of mitochondrial transcripts, and plays a role in apoptosis regulation. The protein binds RNA and is essential for mitochondrial gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain disorders | Impaired mitochondrial RNA processing due to FASTKD5 mutations leads to defective oxidative phosphorylation | PMID: 28288128 |
| Cancer (e.g., breast, lung) | Dysregulation of FASTKD5 expression may alter apoptosis and mitochondrial function, contributing to tumorigenesis | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 6.3 | Low |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Potential impact on RNA binding |
| c.782_783insA | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing mitochondrial RNA processing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • Mitochondrion (GO:0005739) |
| • Mitochondrial RNA processing (GO:0000963) | • Apoptotic process (GO:0006915) |
Pathways
• Mitochondrial RNA metabolism
• Apoptosis
Protein Summary
FASTKD5 is a 764-amino acid protein with a FAST kinase domain and RNA-binding motifs. It localizes to mitochondria and is critical for processing mitochondrial transcripts, particularly the cleavage of polycistronic RNA. It also modulates apoptosis by influencing mitochondrial membrane potential and cytochrome c release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FASTKD5 Knockout HEK293 Cell Line | EDJ-KQ13451 | Human | 60493 | Details Get a Quote |
| FASTKD5 Knockout A-549 Cell Line | EDJ-KQ43011 | Human | 60493 | Details Get a Quote |
| FASTKD5 Knockout HCT 116 Cell Line | EDJ-KQ43012 | Human | 60493 | Details Get a Quote |
| FASTKD5 Knockout HeLa Cell Line | EDJ-KQ43013 | Human | 60493 | Details Get a Quote |
