FASTKD1 Gene: Structure, Function, and Clinical Relevance
Explore the FASTKD1 gene, its protein product, expression patterns, and associated diseases. This comprehensive guide covers genomic annotations, tissue expression, mutations, and functional classifications.
Gene Information Card
| Symbol | FASTKD1 |
|---|---|
| Full Name | FAST kinase domain-containing protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 79675 ncbi.nlm.nih.gov/gene/79675 |
| Ensembl ID | ENSG00000115286 |
| UniProt ID | Q53R41 |
| OMIM ID | None |
| HGNC ID | 29145 |
| Aliases | KIAA1807 |
Description
FASTKD1 (FAST kinase domain-containing protein 1) is a protein-coding gene located on chromosome 2q31.1. It encodes a protein that contains a FAST kinase-like domain, which is involved in mitochondrial RNA metabolism and apoptosis. FASTKD1 is part of the FASTKD family, known to regulate mitochondrial gene expression and cell survival. The protein is localized to mitochondria and plays a role in mitochondrial RNA processing and translation. FASTKD1 has been implicated in various cellular processes, including stress response and apoptosis, and its dysregulation has been linked to certain cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression affecting mitochondrial apoptosis and cell proliferation | COSMIC and literature reports |
| Neurodegenerative disorders | Potential mitochondrial dysfunction leading to neuronal cell death | Inferred from mitochondrial role and expression in brain |
| Mitochondrial diseases | Impaired mitochondrial RNA processing | Based on functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Low |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.2 | Low |
| Testis | 15.0 | Medium |
| Thyroid | 10.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Cervical cancer cell line |
| HepG2 | 7.0 | Liver cancer cell line |
| K562 | 9.2 | Leukemia cell line |
| A549 | 6.8 | Lung cancer cell line |
| MCF7 | 7.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Unknown; may affect protein stability |
| c.890_891insA (p.Leu297fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein or nonsense-mediated decay, resulting in loss of mitochondrial RNA processing function.
Gain of Function (GOF)
No evidence of gain-of-function mutations; overexpression may lead to increased apoptosis.
Dominant Negative (DN)
Not reported; no evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mitochondrion |
| • apoptotic process | • regulation of mitochondrial RNA catabolic process |
| • protein kinase binding |
Pathways
• Mitochondrial RNA metabolism
• Apoptosis signaling
Protein Summary
The FASTKD1 protein is a mitochondrial RNA-binding protein that regulates mitochondrial gene expression. It contains a FAST kinase-like domain and is involved in RNA processing, translation, and apoptosis. The protein is ubiquitously expressed but shows higher levels in testis and brain. It interacts with mitochondrial ribosomes and influences the stability of mitochondrial mRNAs. Dysregulation of FASTKD1 can lead to mitochondrial dysfunction and has been associated with cancer progression and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FASTKD1 Knockout HEK293 Cell Line | EDJ-KQ13450 | Human | 79675 | Details Get a Quote |
| FASTKD1 Knockout A-549 Cell Line | EDJ-KQ43008 | Human | 79675 | Details Get a Quote |
| FASTKD1 Knockout HeLa Cell Line | EDJ-KQ43010 | Human | 79675 | Details Get a Quote |
| FASTKD1 Knockout HCT 116 Cell Line | EDJ-KQ41770 | Human | 79675 | Details Get a Quote |
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