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Aliases for DZANK1 Gene

Aliases for DZANK1 Gene

  • Double Zinc Ribbon And Ankyrin Repeat Domains 1 2 3 5
  • Ankyrin Repeat Domain 64 2 3
  • C20orf12 3 4
  • C20orf84 3 4
  • Double Zinc Ribbon And Ankyrin Repeat-Containing Protein 1 3
  • Ankyrin Repeat-Containing Protein C20orf12 3
  • Chromosome 20 Open Reading Frame 12 2
  • BA189K21.1 3
  • BA189K21.8 3
  • DJ568F9.2 3
  • ANKRD64 3

External Ids for DZANK1 Gene

Previous HGNC Symbols for DZANK1 Gene

  • C20orf84
  • C20orf12

Summaries for DZANK1 Gene

Entrez Gene Summary for DZANK1 Gene

  • This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DZANK1 Gene

DZANK1 (Double Zinc Ribbon And Ankyrin Repeat Domains 1) is a Protein Coding gene. Diseases associated with DZANK1 include Corneal Dystrophy, Posterior Polymorphous, 1 and Fundus Dystrophy.

Additional gene information for DZANK1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DZANK1 Gene

Genomics for DZANK1 Gene

GeneHancer (GH) Regulatory Elements for DZANK1 Gene

Promoters and enhancers for DZANK1 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
GH20J018465 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.2 199 3 PKNOX1 CLOCK ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 DZANK1 POLR3F SNX5 GCNT1P1 DTD1 RNA5SP476
GH20J018433 Promoter 0.6 EPDnew 662.5 +33.6 33566 0.1 FEZF1 DZANK1 RNA5SP476 POLR3F SMIM26 GCNT1P1
GH20J018566 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 -100.3 -100279 2.1 HDGF PKNOX1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 SMIM26 ENSG00000284776 DTD1 SEC23B RBBP9 POLR3F DZANK1
GH20J018412 Enhancer 1 Ensembl ENCODE 22.2 +54.3 54317 1.9 CTCF USF1 RB1 MAX CEBPG BATF ZNF2 IRF4 RAD21 ZNF335 DZANK1 POLR3F LINC00851 SMIM26 GCNT1P1
GH20J018506 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 -40.4 -40427 2.2 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 SEC23B RBBP9 SMIM26 LOC100270804 POLR3F DZANK1 RN7SKP74 GC20P018562
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DZANK1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DZANK1 Gene

Genomic Locations for DZANK1 Gene
chr20:18,383,367-18,467,281
(GRCh38/hg38)
Size:
83,915 bases
Orientation:
Minus strand
chr20:18,364,011-18,447,925
(GRCh37/hg19)
Size:
83,915 bases
Orientation:
Minus strand

Genomic View for DZANK1 Gene

Genes around DZANK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DZANK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DZANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DZANK1 Gene

Proteins for DZANK1 Gene

  • Protein details for DZANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVP4-DZAN1_HUMAN
    Recommended name:
    Double zinc ribbon and ankyrin repeat-containing protein 1
    Protein Accession:
    Q9NVP4
    Secondary Accessions:
    • B7ZLZ4
    • Q4F7X1
    • Q5QPD9
    • Q5QPE0
    • Q68DN8
    • Q6ZMX9
    • Q96NF0
    • Q9H1E0
    • Q9H442

    Protein attributes for DZANK1 Gene

    Size:
    752 amino acids
    Molecular mass:
    82192 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91706.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB70949.1; Type=Erroneous termination; Positions=569; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for DZANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DZANK1 Gene

Post-translational modifications for DZANK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DZANK1 Gene

Domains & Families for DZANK1 Gene

Gene Families for DZANK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DZANK1 Gene

Suggested Antigen Peptide Sequences for DZANK1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DZANK1: view

No data available for UniProtKB/Swiss-Prot for DZANK1 Gene

Function for DZANK1 Gene

Gene Ontology (GO) - Molecular Function for DZANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27173435
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DZANK1: view
genes like me logo Genes that share phenotypes with DZANK1: view

Animal Models for DZANK1 Gene

MGI Knock Outs for DZANK1:
  • Dzank1 Dzank1<tm1a(KOMP)Wtsi>

Animal Model Products

miRNA for DZANK1 Gene

miRTarBase miRNAs that target DZANK1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DZANK1 Gene

Localization for DZANK1 Gene

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 DZANK1 gene
Compartment Confidence
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DZANK1 Gene

Pathways & Interactions for DZANK1 Gene

SuperPathways for DZANK1 Gene

No Data Available

Interacting Proteins for DZANK1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000262547%0d%0a9606.ENSP00000358400%0d%0a9606.ENSP00000240343%0d%0a
Selected Interacting proteins: ENSP00000262547 Q9NVP4-DZAN1_HUMAN for DZANK1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DZANK1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DZANK1 Gene

Drugs & Compounds for DZANK1 Gene

No Compound Related Data Available

Transcripts for DZANK1 Gene

Unigene Clusters for DZANK1 Gene

Double zinc ribbon and ankyrin repeat domains 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DZANK1 Gene

No ASD Table

Relevant External Links for DZANK1 Gene

GeneLoc Exon Structure for
DZANK1
ECgene alternative splicing isoforms for
DZANK1

Expression for DZANK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DZANK1 Gene

Protein differential expression in normal tissues from HIPED for DZANK1 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DZANK1 Gene



Protein tissue co-expression partners for DZANK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DZANK1 Gene:

DZANK1

SOURCE GeneReport for Unigene cluster for DZANK1 Gene:

Hs.472225

Evidence on tissue expression from TISSUES for DZANK1 Gene

  • Skin(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with DZANK1: 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 DZANK1 Gene

Orthologs for DZANK1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DZANK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DZANK1 34 33
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DZANK1 34 33
  • 86.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dzank1 16 34 33
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Dzank1 33
  • 83.11 (n)
cow
(Bos Taurus)
Mammalia C13H20ORF12 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DZANK1 34
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DZANK1 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves DZANK1 34 33
  • 62.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DZANK1 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dzank1 33
  • 61.74 (n)
zebrafish
(Danio rerio)
Actinopterygii dzank1 34 33
  • 55.84 (n)
OneToOne
Dr.25994 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for DZANK1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DZANK1 Gene

ENSEMBL:
Gene Tree for DZANK1 (if available)
TreeFam:
Gene Tree for DZANK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DZANK1: view image

Paralogs for DZANK1 Gene

(1) SIMAP similar genes for DZANK1 Gene using alignment to 3 proteins:

  • DZAN1_HUMAN
  • C9J2A8_HUMAN
  • V9GY46_HUMAN
genes like me logo Genes that share paralogs with DZANK1: view

No data available for Paralogs for DZANK1 Gene

Variants for DZANK1 Gene

Sequence variations from dbSNP and Humsavar for DZANK1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000003048 -- 18,459,751(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000031069 -- 18,431,113(-) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000047870 -- 18,454,831(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000096656 -- 18,387,391(-) A/G intron_variant
rs1000116798 -- 18,424,374(-) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DZANK1 Gene

Variant ID Type Subtype PubMed ID
dgv4283n100 CNV loss 25217958
esv3645437 CNV gain 21293372
esv6745 CNV gain 19470904
nsv1062244 CNV gain 25217958
nsv3313 CNV insertion 18451855
nsv509763 CNV insertion 20534489
nsv523362 CNV loss 19592680

Variation tolerance for DZANK1 Gene

Residual Variation Intolerance Score: 89.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.62; 93.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DZANK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DZANK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DZANK1 Gene

Disorders for DZANK1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DZANK1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, posterior polymorphous, 1
  • ppcd1
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DZANK1

genes like me logo Genes that share disorders with DZANK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DZANK1 Gene

Publications for DZANK1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  4. Glioma pathogenesis-related protein 1 induces prostate cancer cell death through Hsc70-mediated suppression of AURKA and TPX2. (PMID: 23333597) Li L … Thompson TC (Molecular oncology 2013) 3 58
  5. Image-based genome-wide siRNA screen identifies selective autophagy factors. (PMID: 22020285) Orvedahl A … Levine B (Nature 2011) 3 58

Products for DZANK1 Gene

Sources for DZANK1 Gene

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