ANKZF1
Ankyrin Repeat and Zinc Finger Domain Containing 1
Gene Information Card
| Symbol | ANKZF1 |
|---|---|
| Full Name | Ankyrin Repeat and Zinc Finger Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 55139 ncbi.nlm.nih.gov/gene/55139 |
| Ensembl ID | ENSG00000163558 |
| UniProt ID | Q9H8Y5 |
| OMIM ID | 616552 |
| HGNC ID | 25822 |
| Aliases | ZNF788, MGC10744, bA108L22.1 |
Description
ANKZF1 encodes a protein containing ankyrin repeats and a zinc finger domain. It is involved in mitochondrial translation and protein quality control, particularly in the release of nascent polypeptides from stalled mitochondrial ribosomes. The gene is ubiquitously expressed and has been implicated in cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vacuolar leukoencephalopathy with cerebellar atrophy | Loss-of-function mutations impair mitochondrial translation, leading to neurodegeneration | ClinVar, OMIM |
| Mitochondrial encephalopathy | Disrupted ANKZF1 function causes mitochondrial dysfunction and energy deficiency | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Liver | 4.1 | Low |
| Kidney | 5.3 | Medium |
| Testis | 9.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.8 | Embryonic kidney cells |
| HeLa | 6.2 | Cervical cancer cells |
| SH-SY5Y | 8.9 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Ter) | Nonsense | Rare | Loss of function, associated with vacuolar leukoencephalopathy |
| c.1426G>A (p.Gly476Arg) | Missense | Rare | Likely damaging, disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of mitochondrial translation rescue activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial translation | • Protein quality control |
| • Zinc ion binding | • Ankyrin repeat binding |
| • Ribosome rescue |
Pathways
• Mitochondrial protein synthesis
• Cellular response to stress
Protein Summary
The ANKZF1 protein is a mitochondrial factor that facilitates the release of nascent polypeptides from stalled ribosomes, ensuring proper mitochondrial translation and protein homeostasis. It contains ankyrin repeats for protein-protein interactions and a zinc finger domain for nucleic acid binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKZF1 Knockout HEK293 Cell Line | EDJ-KQ12381 | Human | 55139 | Details Get a Quote |
| ANKZF1 Knockout A-549 Cell Line | EDJ-KQ39985 | Human | 55139 | Details Get a Quote |
| ANKZF1 Knockout HCT 116 Cell Line | EDJ-KQ41245 | Human | 55139 | Details Get a Quote |
| ANKZF1 Knockout HeLa Cell Line | EDJ-KQ41246 | Human | 55139 | Details Get a Quote |
