ANKZF1 (ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1)

Gene

• Entrez ID: 55139
• Gene name: Ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
• Gene symbol: ANKZF1
• Synonyms (NCBI Gene): Vms1, ZNF744
• Chromosome: 2
• Chromosome location: 2q35

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018525	hsa-miR-335-5p	Microarray	18185580
MIRT032393	hsa-let-7b-5p	Proteomics	18668040
MIRT045168	hsa-miR-186-5p	CLASH	23622248
MIRT2172132	hsa-miR-101	CLIP-seq
MIRT2172133	hsa-miR-3180-5p	CLIP-seq
MIRT2172134	hsa-miR-4267	CLIP-seq
MIRT2172135	hsa-miR-4282	CLIP-seq
MIRT2172136	hsa-miR-4645-3p	CLIP-seq
MIRT2172137	hsa-miR-520a-5p	CLIP-seq
MIRT2172138	hsa-miR-525-5p	CLIP-seq
MIRT2172139	hsa-miR-634	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001680	Process	TRNA 3'-terminal CCA addition	IDA	32075755
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	IDA	30244831, 31011209
GO:0005515	Function	Protein binding	IPI	22190034
GO:0005737	Component	Cytoplasm	IDA	28302725
GO:0005737	Component	Cytoplasm	IEA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IDA	29632312, 30244831, 31011209, 32075755
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0036503	Process	ERAD pathway	IBA
GO:0042780	Process	TRNA 3'-end processing	IDA	32075755
GO:0046872	Function	Metal ion binding	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IMP	28302725
GO:0072344	Process	Rescue of stalled ribosome	IDA	29632312, 30244831, 31011209, 32075755
GO:0140101	Function	Catalytic activity, acting on a tRNA	IDA	30244831, 31011209, 32075755

Other IDs

• MIM: 617541
• HGNC: 25527
• e!Ensembl: ENSG00000163516

Protein

• UniProt ID: Q9H8Y5
• Protein name: tRNA endonuclease ANKZF1 (EC 3.1.-.-) (Ankyrin repeat and zinc finger domain-containing protein 1) (Zinc finger protein 744)
• Protein function: 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 pathwa
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18826	bVLRF1	207 → 351	Bacteroidetes VLRF1 release factor	Domain
  PF00023	Ank	534 → 566	Ankyrin repeat	Repeat
  PF18716	VATC	683 → 725	Vms1-associating treble clef domain	Domain

• Sequence:

  MSPAPDAAPAPASISLFDLSADAPVFQGLSLVSHAPGEALARAPRTSCSGSGERESPERK
  LLQGPMDISEKLFCSTCDQTFQNHQEQREHYKLDWHRFNLKQRLKDKPLLSALDFEKQSS
  TGDLSSISGSEDSDSASEEDLQTLDRERATFEKLSRPPGFYPHRVLFQNAQGQFLYAYRC
  VLGPHQDPPEEAELLLQNLQSRGPRDCVVLMAAAGHFAGAIFQGREVVTHKTFHRYTVRA
  KRGTAQGLRDARGGPSHSAGANLRRYNEATLYKDVRDLLAGPSWAKALEEAGTILLRAPR
  SGRSLFFGGKGAPLQRGDPRLWDIPLATRRPTFQELQRVLHKLTTLHVYEEDPREAVRLH
  SPQTHWKTVREERKKPTEEEIRKICRDEKEALGQNEESPKQGSGSEGEDGFQVELELVEL
  TVGTLDLCESEVLPKRRRRKRNKKEKSRDQEAGAHRTLLQQTQEEEPSTQSSQAVAAPLG
  PLLDEAKAPGQPELWNALLAACRAGDVGVLKLQLAPSPADPRVLSLLSAPLGSGGFTLLH
  AAAAAGRGSVVRLLLEAGADPTVQDSRARPPYTVAADKSTRNEFRRFMEKNPDAYDYNKA
  QVPGPLTPEMEARQATRKREQKAARRQREEQQQRQQEQEEREREEQRRFAALSDREKRAL
  AAERRLAAQLGAPTSPIPDSAIVNTRRCWSCGASLQGLTPFHYLDFSFCSTRCLQDHRRQ
  AGRPSS

• Sequence length: 726

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKZF1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma	Associate	35109912	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	35123420	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	33287763, 33836688, 34596153	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	32744303, 35109912	★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	34596153	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Associate	28302725	★★☆☆☆ Found in Text Mining + Unknown/Other Associations