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ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 [ Homo sapiens (human) ]

Gene ID: 55139, updated on 5-Mar-2024

Summary

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Official Symbol
ANKZF1provided by HGNC
Official Full Name
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1provided by HGNC
Primary source
HGNC:HGNC:25527
See related
Ensembl:ENSG00000163516 MIM:617541; AllianceGenome:HGNC:25527
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Vms1; ZNF744
Summary
Predicted to enable metal ion binding activity. Involved in cellular response to hydrogen peroxide. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 19.0), spleen (RPKM 18.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q35
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219229806..219236679)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219714571..219721444)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220094528..220101401)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 6 (LAN blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220082897-220083764 Neighboring gene autophagy related 9A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093298-220093846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093847-220094394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220094395-220094942 Neighboring gene galactosidase beta 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220109882-220110464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17145 Neighboring gene serine/threonine kinase 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12351 Neighboring gene tubulin alpha 4a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17148 Neighboring gene tubulin alpha 4b

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. High ANKZF1 expression is associated with poor overall survival and recurrence-free survival in colon cancer. Zhou X, et al. Future Oncol, 2019 Jun. PMID 31257922
  2. ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control. Yip MCJ, et al. Cell Rep, 2020 Feb 18. PMID 32075755, Free PMC Article
  3. Mechanism for recycling tRNAs on stalled ribosomes. Yip MCJ, et al. Nat Struct Mol Biol, 2019 May. PMID 31011209
  4. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease. van Haaften-Visser DY, et al. J Biol Chem, 2017 May 12. PMID 28302725, Free PMC Article
  5. The general definition of the p97/valosin-containing protein (VCP)-interacting motif (VIM) delineates a new family of p97 cofactors. Stapf C, et al. J Biol Chem, 2011 Nov 4. PMID 21896481, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High ANKZF1 is an independent factor of poor survival (overall survival and recurrence-free survival) in colon cancer by taking part in angiogenesis and some cancer signaling pathways.
    Title: High ANKZF1 expression is associated with poor overall survival and recurrence-free survival in colon cancer.
  2. Rendering 60S RNCs resistant to Ptrh1 but susceptible to ANKZF1.
    Title: Release of Ubiquitinated and Non-ubiquitinated Nascent Chains from Stalled Mammalian Ribosomal Complexes by ANKZF1 and Ptrh1.
  3. ANKZF1 peptidyl-tRNA hydrolases release nascent chains from stalled ribosomes
    Title: Vms1 and ANKZF1 peptidyl-tRNA hydrolases release nascent chains from stalled ribosomes.
  4. loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity, and this may play a pathogenic role in the development of infantile-onset inflammatory bowel disease
    Title: Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10415, FLJ13144

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA endonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables catalytic activity, acting on a tRNA IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to hydrogen peroxide IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein quality control for misfolded or incompletely synthesized proteins IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in rescue of stalled ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 

General protein information

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Preferred Names
tRNA endonuclease ANKZF1
Names
ankyrin repeat and zinc finger domain containing 1
ankyrin repeat and zinc finger domain-containing protein 1
zinc finger protein 744

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001042410.2 → NP_001035869.1  tRNA endonuclease ANKZF1 isoform 1

    See identical proteins and their annotated locations for NP_001035869.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC068946, AK023206, BC028334, DA899467
    Consensus CDS
    CCDS42821.1
    UniProtKB/Swiss-Prot
    Q9H8Y5, Q9NVZ4
    Related
    ENSP00000386337.3, ENST00000410034.7
    Conserved Domains (5) summary
    smart00451
    Location:69 → 103
    ZnF_U1; U1-like zinc finger
    cd00204
    Location:495 → 578
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00020
    Location:74 → 96
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13637
    Location:495 → 555
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:495 → 532
    ANK; ANK repeat [structural motif]

  2. NM_001282792.2 → NP_001269721.1  tRNA endonuclease ANKZF1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks three consecutive exons in the 5' region, and initiates translation at a downstream AUG codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA482007, AC068946, AK225275, BC028334, DA226194
    Consensus CDS
    CCDS63129.1
    UniProtKB/TrEMBL
    B8ZZS4
    Related
    ENSP00000386815.1, ENST00000409849.5
    Conserved Domains (3) summary
    cd00204
    Location:285 → 368
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam13637
    Location:285 → 345
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:285 → 322
    ANK; ANK repeat [structural motif]

  3. NM_018089.3 → NP_060559.2  tRNA endonuclease ANKZF1 isoform 1

    See identical proteins and their annotated locations for NP_060559.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1)represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC068946, BC008948, BC028334, DA226194
    Consensus CDS
    CCDS42821.1
    UniProtKB/Swiss-Prot
    Q9H8Y5, Q9NVZ4
    Related
    ENSP00000321617.5, ENST00000323348.10
    Conserved Domains (5) summary
    smart00451
    Location:69 → 103
    ZnF_U1; U1-like zinc finger
    cd00204
    Location:495 → 578
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00020
    Location:74 → 96
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13637
    Location:495 → 555
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:495 → 532
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    219229806..219236679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511392.4 → XP_011509694.1  tRNA endonuclease ANKZF1 isoform X1

    Conserved Domains (5) summary
    smart00451
    Location:69 → 103
    ZnF_U1; U1-like zinc finger
    cd00204
    Location:494 → 577
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00020
    Location:74 → 96
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13637
    Location:494 → 554
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:494 → 531
    ANK; ANK repeat [structural motif]

  2. XM_017004421.3 → XP_016859910.1  tRNA endonuclease ANKZF1 isoform X5

  3. XM_047444866.1 → XP_047300822.1  tRNA endonuclease ANKZF1 isoform X6

  4. XM_047444865.1 → XP_047300821.1  tRNA endonuclease ANKZF1 isoform X4

  5. XM_047444864.1 → XP_047300820.1  tRNA endonuclease ANKZF1 isoform X3

  6. XM_005246663.4 → XP_005246720.1  tRNA endonuclease ANKZF1 isoform X2

    Conserved Domains (5) summary
    smart00451
    Location:4 → 38
    ZnF_U1; U1-like zinc finger
    cd00204
    Location:430 → 513
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00020
    Location:9 → 31
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13637
    Location:430 → 490
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:430 → 467
    ANK; ANK repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    219714571..219721444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342737.1 → XP_054198712.1  tRNA endonuclease ANKZF1 isoform X1

  2. XM_054342741.1 → XP_054198716.1  tRNA endonuclease ANKZF1 isoform X5

  3. XM_054342742.1 → XP_054198717.1  tRNA endonuclease ANKZF1 isoform X6

  4. XM_054342740.1 → XP_054198715.1  tRNA endonuclease ANKZF1 isoform X4

  5. XM_054342739.1 → XP_054198714.1  tRNA endonuclease ANKZF1 isoform X3

  6. XM_054342738.1 → XP_054198713.1  tRNA endonuclease ANKZF1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H8Y5.1 GenPept UniProtKB/Swiss-Prot:Q9H8Y5

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