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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ANKZF1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
Chromosome 2 · 2q35
NCBI Gene: 55139Ensembl: ENSG00000163516.14HGNC: HGNC:25527UniProt: B8ZZS4
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA endonuclease activityprotein bindingcatalytic activity, acting on a tRNAprotein quality control for misfolded or incompletely synthesized proteinsneurodegenerative diseaselysosomal storage diseaseinflammatory bowel diseaseAlzheimer disease
✦AI Summary

ANKZF1 is an endonuclease that functions as a critical component of the ribosome-associated quality control (RQC) pathway, which resolves stalled translation complexes. Its primary function is to cleave polypeptidyl-tRNAs by precisely removing the terminal 3'-CCA nucleotides, thereby releasing ubiquitinated incompletely synthesized polypeptides from 60S ribosomal subunits for proteasomal degradation 1. The cleaved tRNAs are subsequently recycled through a two-step repair process involving ELAC1 phosphatase activity and TRNT1-mediated CCA re-addition 12. Beyond translation quality control, ANKZF1 plays essential roles in mitochondrial proteostasis. It localizes to the cytoplasm and translocates to mitochondria under cellular stress, maintaining mitochondrial integrity and respiration 3. ANKZF1 participates in PINK1-Parkin-mediated mitophagy by physically interacting with Parkin and LC3 via LC3-interacting regions (LIRs), facilitating clearance of stress-damaged mitochondria 4. In glioblastoma, ANKZF1 knockdown promotes intramitochondrial protein aggregation through mitochondrial RQC dysfunction, activating the unfolded protein response and triggering mitochondrial apoptosis 5. Clinically, ANKZF1 dysfunction associates with infantile-onset inflammatory bowel disease through loss-of-function mutations impairing mitochondrial responses to stress 3. Conversely, high ANKZF1 expression correlates with poor survival in colorectal cancer 6. ANKZF1 depletion reduces repeat-associated non-AUG translation in C9ORF72 and FMR1 repeat expansion disorders, suggesting therapeutic potential 7.

Sources cited
1
ANKZF1 cleaves polypeptidyl-tRNAs by removing 3'CCA nucleotides to release ubiquitinated polypeptides from 60S subunits during RQC; cleaved tRNAs require TRNT1-mediated repair
PMID: 31011209
2
ELAC1 removes 2',3'-cyclic phosphate from ANKZF1-cleaved tRNAs to permit CCA re-addition by TRNT1 for tRNA recycling
PMID: 32075755
3
ANKZF1 maintains mitochondrial integrity and respiration under cellular stress; loss-of-function mutations cause infantile-onset IBD through mitochondrial dysfunction
PMID: 28302725
4
ANKZF1 participates in PINK1-Parkin-mediated mitophagy by interacting with LC3 via LIR motifs to eliminate stress-damaged mitochondria
PMID: 40730577
5
ANKZF1 knockdown in glioblastoma promotes mitochondrial protein aggregation and CAT-tail accumulation, activating mitochondrial unfolded protein response and apoptosis
PMID: 38670305
6
High ANKZF1 expression associates with poor overall and recurrence-free survival in colorectal cancer through involvement in angiogenesis and cancer signaling
PMID: 31257922
7
ANKZF1 depletion markedly boosts repeat-associated non-AUG translation from GC-rich repeats in C9ORF72 and FMR1; suggests augmenting RQC as therapy for repeat expansion disorders
PMID: 38412259
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
lysosomal storage diseaseOpen Targets
0.43Moderate
inflammatory bowel diseaseOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.23Weak
Parkinson diseaseOpen Targets
0.23Weak
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
glioblastomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
pachyonychia congenitaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
readingOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NPLOC4Protein interaction100%UFD1Protein interaction82%VCPProtein interaction82%UBE4AProtein interaction82%PLAAProtein interaction82%UBE4BProtein interaction82%
Tissue Expression6 tissues
Ovary
100%
Liver
69%
Lung
66%
Heart
36%
Bone Marrow
31%
Brain
12%
Gene Interaction Network
Click a node to explore
ANKZF1NPLOC4UFD1VCPUBE4APLAAUBE4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H8Y5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.79–1.13]
RankingsWhere ANKZF1 stands among ~20K protein-coding genes
  • #8,642of 20,598
    Most Researched51
  • #11,617of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedANKZF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
PMID: 28302725
J Biol Chem · 2017
1.00
2
Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.
PMID: 38412259
Nucleic Acids Res · 2024
0.90
3
ANKZF1 knockdown inhibits glioblastoma progression by promoting intramitochondrial protein aggregation through mitoRQC.
PMID: 38670305
Cancer Lett · 2024
0.80
4
ANKZF1 helps to eliminate stress-damaged mitochondria by LC3-mediated mitophagy.
PMID: 40730577
Cell Death Discov · 2025
0.70
5
High
PMID: 31257922
Future Oncol · 2019
0.60