Aliases for ANKZF1 Gene

Aliases for ANKZF1 Gene

  • Ankyrin Repeat And Zinc Finger Peptidyl TRNA Hydrolase 1 2 3 5
  • Ankyrin Repeat And Zinc Finger Domain-Containing Protein 1 3 4
  • Ankyrin Repeat And Zinc Finger Domain Containing 1 2 3
  • Zinc Finger Protein 744 3 4
  • ZNF744 3 4
  • Vms1 3

External Ids for ANKZF1 Gene

Previous GeneCards Identifiers for ANKZF1 Gene

  • GC02P219802
  • GC02P220094
  • GC02P211947

Summaries for ANKZF1 Gene

GeneCards Summary for ANKZF1 Gene

ANKZF1 (Ankyrin Repeat And Zinc Finger Peptidyl TRNA Hydrolase 1) is a Protein Coding gene. Diseases associated with ANKZF1 include Pancreatic Adenosquamous Carcinoma.

UniProtKB/Swiss-Prot Summary for ANKZF1 Gene

  • Plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway (By similarity).

Gene Wiki entry for ANKZF1 Gene

Additional gene information for ANKZF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKZF1 Gene

Genomics for ANKZF1 Gene

GeneHancer (GH) Regulatory Elements for ANKZF1 Gene

Promoters and enhancers for ANKZF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKZF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKZF1

Top Transcription factor binding sites by QIAGEN in the ANKZF1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • MyoD
  • NF-kappaB1

Genomic Locations for ANKZF1 Gene

Genomic Locations for ANKZF1 Gene
chr2:219,229,757-219,236,679
(GRCh38/hg38)
Size:
6,923 bases
Orientation:
Plus strand
chr2:220,094,479-220,101,391
(GRCh37/hg19)
Size:
6,913 bases
Orientation:
Plus strand

Genomic View for ANKZF1 Gene

Genes around ANKZF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKZF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKZF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKZF1 Gene

Proteins for ANKZF1 Gene

  • Protein details for ANKZF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8Y5-ANKZ1_HUMAN
    Recommended name:
    Ankyrin repeat and zinc finger domain-containing protein 1
    Protein Accession:
    Q9H8Y5
    Secondary Accessions:
    • Q9NVZ4

    Protein attributes for ANKZF1 Gene

    Size:
    726 amino acids
    Molecular mass:
    80927 Da
    Quaternary structure:
    • Interacts (via VIM motif) with VCP.
    SequenceCaution:
    • Sequence=ABD65410.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA91596.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ANKZF1 Gene

Post-translational modifications for ANKZF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKZF1 Gene

Domains & Families for ANKZF1 Gene

Gene Families for ANKZF1 Gene

Protein Domains for ANKZF1 Gene

Blocks:
  • Ankyrin repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKZF1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 744 (ANKZ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H8Y5

UniProtKB/Swiss-Prot:

ANKZ1_HUMAN :
  • Belongs to the ANKZF1/VMS1 family.
Family:
  • Belongs to the ANKZF1/VMS1 family.
genes like me logo Genes that share domains with ANKZF1: view

Function for ANKZF1 Gene

Molecular function for ANKZF1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway (By similarity).

Phenotypes From GWAS Catalog for ANKZF1 Gene

Gene Ontology (GO) - Molecular Function for ANKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004843 contributes_to thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0005515 protein binding IPI,IEA 22190034
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ANKZF1: view
genes like me logo Genes that share phenotypes with ANKZF1: view

Animal Model Products

CRISPR Products

miRNA for ANKZF1 Gene

miRTarBase miRNAs that target ANKZF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKZF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKZF1 Gene

Localization for ANKZF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKZF1 Gene

Cytoplasm. Note=Translocates to the mitochondria upon exposure to hydrogen peroxide. {ECO:0000269 PubMed:28302725}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKZF1 gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 28302725
GO:0016020 membrane HDA 19946888
GO:0036266 Cdc48p-Npl4p-Vms1p AAA ATPase complex IBA 21873635
genes like me logo Genes that share ontologies with ANKZF1: view

Pathways & Interactions for ANKZF1 Gene

PathCards logo

SuperPathways for ANKZF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ubiquitin-dependent ERAD pathway IBA 21873635
GO:0070301 cellular response to hydrogen peroxide IMP 28302725
GO:0071630 nuclear protein quality control by the ubiquitin-proteasome system IBA 21873635
GO:0072671 mitochondria-associated ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with ANKZF1: view

No data available for Pathways by source and SIGNOR curated interactions for ANKZF1 Gene

Drugs & Compounds for ANKZF1 Gene

No Compound Related Data Available

Transcripts for ANKZF1 Gene

mRNA/cDNA for ANKZF1 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKZF1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKZF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b ·
SP1: - - - - - - - - - - -
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SP5: - - - - - - - - -
SP6: - - - - - - - - - - - - - - - -
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SP9: - - - - - - - - - - - - - - - - -
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SP19: - - - - - - - - - - - - - - - - -
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SP22:
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SP25: - -
SP26: - - - - - - - - - - - -
SP27:
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SP29:

ExUns: 8c · 8d · 8e ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b · 12c · 12d · 12e ^ 13a · 13b ^ 14a · 14b · 14c ·
SP1: -
SP2:
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SP13: -
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SP16: - -
SP17: - - -
SP18: - -
SP19:
SP20:
SP21: -
SP22: - - - -
SP23: - - - -
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:

ExUns: 14d ^ 15a · 15b ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
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SP13:
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SP15:
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SP17:
SP18: -
SP19:
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SP24: -
SP25:
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SP29:

Relevant External Links for ANKZF1 Gene

GeneLoc Exon Structure for
ANKZF1

Expression for ANKZF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKZF1 Gene

Protein differential expression in normal tissues from HIPED for ANKZF1 Gene

This gene is overexpressed in Lung (52.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKZF1 Gene



Protein tissue co-expression partners for ANKZF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKZF1

SOURCE GeneReport for Unigene cluster for ANKZF1 Gene:

Hs.437647

Evidence on tissue expression from TISSUES for ANKZF1 Gene

  • Nervous system(4.6)
  • Intestine(4.3)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with ANKZF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKZF1 Gene

Orthologs for ANKZF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANKZF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKZF1 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKZF1 31 30
  • 86.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKZF1 31 30
  • 84.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankzf1 17 31 30
  • 83.47 (n)
rat
(Rattus norvegicus)
Mammalia Ankzf1 30
  • 83.47 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKZF1 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKZF1 31 30
  • 55.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKZF1 31
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankzf1 30
  • 53.71 (n)
zebrafish
(Danio rerio)
Actinopterygii ankzf1 31 30
  • 53.4 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea vms-1 31 30
  • 44.93 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMS1 33 31
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10916 31
  • 33 (a)
OneToOne
Species where no ortholog for ANKZF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANKZF1 Gene

ENSEMBL:
Gene Tree for ANKZF1 (if available)
TreeFam:
Gene Tree for ANKZF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKZF1: view image

Paralogs for ANKZF1 Gene

No data available for Paralogs for ANKZF1 Gene

Variants for ANKZF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKZF1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs149382949 - p.Glu152Lys
rs189875478 - p.Arg585Gln
rs2293076 - p.Arg569Trp
rs2293079 - p.Pro676Leu
VAR_079139 - p.Gln638Pro

Additional dbSNP identifiers (rs#s) for ANKZF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKZF1 Gene

Variant ID Type Subtype PubMed ID
esv3594357 CNV loss 21293372
esv3893555 CNV loss 25118596
nsv508885 CNV insertion 20534489
nsv820013 CNV loss 19587683
nsv834543 CNV loss 17160897

Variation tolerance for ANKZF1 Gene

Residual Variation Intolerance Score: 86.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.04; 75.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKZF1 Gene

Human Gene Mutation Database (HGMD)
ANKZF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKZF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKZF1 Gene

Disorders for ANKZF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKZF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreatic adenosquamous carcinoma
  • adenosquamous carcinoma of pancreas
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKZF1

genes like me logo Genes that share disorders with ANKZF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKZF1 Gene

Publications for ANKZF1 Gene

  1. The general definition of the p97/valosin-containing protein (VCP)-interacting motif (VIM) delineates a new family of p97 cofactors. (PMID: 21896481) Stapf C … Buchberger A (The Journal of biological chemistry 2011) 2 3 4 54
  2. Vms1 and ANKZF1 peptidyl-tRNA hydrolases release nascent chains from stalled ribosomes. (PMID: 29632312) Verma R … Deshaies RJ (Nature 2018) 2 3 54
  3. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease. (PMID: 28302725) van Haaften-Visser DY … Coffer PJ (The Journal of biological chemistry 2017) 3 4 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 54

Products for ANKZF1 Gene

Sources for ANKZF1 Gene