ANKZF1

Chr 2q35

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

Aliases:: FLJ10415, ZNF744, Vms1
MANE:: ENST00000323348.10

OMIM: 617541 ↗NCBI: 55139 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ANKZF1 · Q9H8Y5

v62025-08-01

Predicted Aligned Error matrix for ANKZF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.5/ 100

Low

726 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)44%
Low(50–70)9%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.54
lysosomal storage disease
0.43
inflammatory bowel disease
0.38
Alzheimer disease
0.24
multiple sclerosis
0.23
Parkinson disease
0.23
cancer
0.08
colorectal carcinoma
0.08
nonpapillary renal cell carcinoma
0.08
malignant colon neoplasm
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

tRNA endonuclease ANKZF1

Endonuclease that cleaves polypeptidyl-tRNAs downstream of the ribosome-associated quality control (RQC) pathway to release incompletely synthesized polypeptides for degradation (PubMed:29632312, PubMed:30244831, PubMed:31011209). The RQC pathway disassembles aberrantly stalled translation complexes to recycle or degrade the constituent parts (PubMed:29632312, PubMed:30244831, PubMed:31011209). ANKZF1 acts downstream disassembly of stalled ribosomes and specifically cleaves off the terminal 3'-CCA nucleotides universal to all tRNAs from polypeptidyl-tRNAs, releasing (1) ubiquitinated polypeptides from 60S ribosomal subunit for degradation and (2) cleaved tRNAs (PubMed:31011209). ANKZF1-cleaved tRNAs are then repaired and recycled by ELAC1 and TRNT1 (PubMed:31011209, PubMed:32075755). Also plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725)