Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANKZF1 Gene

Aliases for ANKZF1 Gene

  • Ankyrin Repeat And Zinc Finger Domain Containing 1 2 3 5
  • Zinc Finger Protein 744 3 4
  • ZNF744 3 4
  • Ankyrin Repeat And Zinc Finger Domain-Containing Protein 1 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 Domain Containing 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ANKZF1 Gene

Genomics for ANKZF1 Gene

GeneHancer (GH) Regulatory Elements for ANKZF1 Gene

Promoters and enhancers for ANKZF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J219227 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.1 -149 3.4 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ANKZF1 ATG9A USP37 NHEJ1 DNPEP GLB1L ABCB6 AAMP CNOT9 TUBA4B
GH02J218393 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.2 -828.8 -828750 14.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ENSG00000273361 GC02P218403 MIR26B CTDSP1 CNOT9 AAMP USP37 RNF25 NHEJ1 ZNF142
GH02J218281 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.3 -939.5 -939519 17.9 MLX DMAP1 IRF4 YY1 ZNF143 SP3 NFYC MEF2D GLIS1 RCOR2 TMBIM1 ENSG00000261338 SLC11A1 ANKZF1 CTDSP1 MIR26B CNOT9 ARPC2 PNKD CATIP-AS1
GH02J218710 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.6 -518.5 -518545 2.4 HDGF PKNOX1 FOXA2 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 TTLL4 AAMP CNOT9 NHEJ1 SLC23A3 USP37 STK36 ANKZF1 LINC00608 RNF25
GH02J219244 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.6 +20.4 20361 11.2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 GLIS1 GLB1L TUBA4A STK16 ZFAND2B LINC00608 LINC01803 ANKZF1 ATG9A DNAJB2 MIR153-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKZF1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ANKZF1 Gene

Genomic Locations for ANKZF1 Gene
chr2:219,229,757-219,236,669
(GRCh38/hg38)
Size:
6,913 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; Positions=318; Evidence={ECO:0000305}; Sequence=BAA91596.1; Type=Frameshift; Positions=318; 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

Suggested Antigen Peptide Sequences for ANKZF1 Gene

GenScript: Design optimal peptide antigens:

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 --
GO:0005515 protein binding IPI 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

miRNA for ANKZF1 Gene

miRTarBase miRNAs that target 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

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 --
genes like me logo Genes that share ontologies with ANKZF1: view

Pathways & Interactions for ANKZF1 Gene

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 --
GO:0070301 cellular response to hydrogen peroxide IMP 28302725
GO:0071630 nuclear protein quality control by the ubiquitin-proteasome system IBA --
GO:0072671 mitochondria-associated ubiquitin-dependent protein catabolic process IBA --
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

Unigene Clusters for ANKZF1 Gene

Ankyrin repeat and zinc finger domain containing 1:
Representative Sequences:

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: - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - - - -
SP10: - - - - - -
SP11: - - - - -
SP12: - - -
SP13: - - - - -
SP14: - - - -
SP15:
SP16:
SP17:
SP18:
SP19: - - - - - - - - - - - - - - - - -
SP20: -
SP21: - - - - -
SP22:
SP23:
SP24:
SP25: - -
SP26: - - - - - - - - - - - -
SP27:
SP28:
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:
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15: -
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:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:
SP21:
SP22:
SP23:
SP24: -
SP25:
SP26:
SP27:
SP28:
SP29:

Relevant External Links for ANKZF1 Gene

GeneLoc Exon Structure for
ANKZF1
ECgene alternative splicing isoforms for
ANKZF1

Expression for ANKZF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ANKZF1 Gene:

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 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKZF1 34 33
  • 86.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKZF1 34 33
  • 84.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankzf1 16 34 33
  • 83.47 (n)
rat
(Rattus norvegicus)
Mammalia Ankzf1 33
  • 83.47 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKZF1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKZF1 34 33
  • 55.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKZF1 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankzf1 33
  • 53.71 (n)
zebrafish
(Danio rerio)
Actinopterygii ankzf1 34 33
  • 53.4 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea vms-1 34 33
  • 44.93 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMS1 36 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10916 34
  • 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 from dbSNP and Humsavar for ANKZF1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000150580 -- 219,236,722(+) G/C downstream_transcript_variant
rs1000301786 -- 219,233,350(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1000683660 -- 219,233,642(+) G/A intron_variant
rs1000763126 -- 219,231,106(+) T/A intron_variant
rs1002446579 -- 219,230,273(+) G/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

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

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

Additional Disease Information for ANKZF1

No disorders were found for ANKZF1 Gene.

No data available for MalaCards , 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 58
  2. 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 58
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ANKZF1 Gene

Sources for ANKZF1 Gene