This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] See more...

Aliases for ZBP1 Gene

Aliases for ZBP1 Gene

  • Z-DNA Binding Protein 1 2 3 5
  • Tumor Stroma And Activated Macrophage Protein DLM-1 3 4
  • DNA-Dependent Activator Of IRFs 2 3
  • Z-DNA-Binding Protein 1 3 4
  • C20orf183 3 4
  • DLM1 3 4
  • Chromosome 20 Open Reading Frame 183 2
  • DLM-1 3
  • DAI 3

External Ids for ZBP1 Gene

Previous HGNC Symbols for ZBP1 Gene

  • C20orf183

Previous GeneCards Identifiers for ZBP1 Gene

  • GC20M055907
  • GC20M056817
  • GC20M056864
  • GC20M055602
  • GC20M056178
  • GC20M052960

Summaries for ZBP1 Gene

Entrez Gene Summary for ZBP1 Gene

  • This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for ZBP1 Gene

ZBP1 (Z-DNA Binding Protein 1) is a Protein Coding gene. Diseases associated with ZBP1 include Allergic Cutaneous Vasculitis and Leukorrhea. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and Innate Immune System. Gene Ontology (GO) annotations related to this gene include RNA binding and left-handed Z-DNA binding.

UniProtKB/Swiss-Prot Summary for ZBP1 Gene

  • Participates in the detection by the host's innate immune system of DNA from viral, bacterial or even host origin. Plays a role in host defense against tumors and pathogens. Acts as a cytoplasmic DNA sensor which, when activated, induces the recruitment of TBK1 and IRF3 to its C-terminal region and activates the downstream interferon regulatory factor (IRF) and NF-kappa B transcription factors, leading to type-I interferon production. ZBP1-induced NF-kappaB activation probably involves the recruitment of the RHIM containing kinases RIPK1 and RIPK3 (By similarity).

Gene Wiki entry for ZBP1 Gene

Additional gene information for ZBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZBP1 Gene

Genomics for ZBP1 Gene

GeneHancer (GH) Regulatory Elements for ZBP1 Gene

Promoters and enhancers for ZBP1 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
GH20J057617 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 514.4 +0.8 802 4.1 SP1 EP300 JUND CTCF RELA MEF2C HES1 RUNX1 TRIM22 EZH2 ZBP1 lnc-PMEPA1-3 piR-33965
GH20J057624 Enhancer 0.3 ENCODE 500.7 -1.5 -1548 0.1 CTCF HLF ZBP1 lnc-PMEPA1-3 piR-39098-129
GH20J057388 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.6 +225.2 225200 13.2 LARP7 HNRNPK ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 MYC POLR2G RBM38 ZBP1 RAE1 GCNT7 ENSG00000218018 BMP7 CASS4 PMEPA1 MTRNR2L3 LOC100291105
GH20J057679 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -61.3 -61268 4.5 SP1 EP300 CTCF KLF4 RELA MEF2C RCOR1 TRIM22 POLR2A BCL11A ZBP1 PMEPA1 RBM38 lnc-PMEPA1-2 NKILA lnc-ZBP1-2
GH20J057408 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +207.9 207875 9.8 HNRNPK PHB2 EP300 ZIC2 ZBTB11 AFF1 TARDBP RFX1 HES1 TOE1 RBM38 ZBP1 CTCFL ENSG00000218018 BMP7 HSALNG0131163
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBP1

Top Transcription factor binding sites by QIAGEN in the ZBP1 gene promoter:
  • c-Ets-1
  • E47
  • Elk-1
  • HEN1
  • Ik-1
  • ISGF-3
  • Lmo2
  • Tal-1

Genomic Locations for ZBP1 Gene

Genomic Locations for ZBP1 Gene
chr20:57,603,846-57,620,576
(GRCh38/hg38)
Size:
16,731 bases
Orientation:
Minus strand
chr20:56,178,902-56,195,632
(GRCh37/hg19)
Size:
16,731 bases
Orientation:
Minus strand

Genomic View for ZBP1 Gene

Genes around ZBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBP1 Gene

Proteins for ZBP1 Gene

  • Protein details for ZBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H171-ZBP1_HUMAN
    Recommended name:
    Z-DNA-binding protein 1
    Protein Accession:
    Q9H171
    Secondary Accessions:
    • A2A2F7
    • B3KVA1
    • F5GYT1
    • Q5JY39
    • Q9BYW4

    Protein attributes for ZBP1 Gene

    Size:
    429 amino acids
    Molecular mass:
    46343 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZBP1 Gene

    Alternative splice isoforms for ZBP1 Gene

neXtProt entry for ZBP1 Gene

Post-translational modifications for ZBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBP1 Gene

Domains & Families for ZBP1 Gene

Gene Families for ZBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZBP1 Gene

Blocks:
  • Double-stranded RNA-specific adenosine deaminase (DRADA)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZBP1 Gene

GenScript: Design optimal peptide antigens:
  • Z-DNA binding protein 1 (A2A2F6_HUMAN)
  • Z-DNA binding protein 1 (A2A2F7_HUMAN)
  • Z-DNA binding protein 1 (A2RRL9_HUMAN)
  • cDNA FLJ16296 fis, clone PEBLM2008861, highly similar to Z-DNA-binding protein 1 (B3KVA1_HUMAN)
  • Tumor stroma and activated macrophage protein DLM-1 (ZBP1_HUMAN)
genes like me logo Genes that share domains with ZBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZBP1 Gene

Function for ZBP1 Gene

Molecular function for ZBP1 Gene

UniProtKB/Swiss-Prot Function:
Participates in the detection by the host's innate immune system of DNA from viral, bacterial or even host origin. Plays a role in host defense against tumors and pathogens. Acts as a cytoplasmic DNA sensor which, when activated, induces the recruitment of TBK1 and IRF3 to its C-terminal region and activates the downstream interferon regulatory factor (IRF) and NF-kappa B transcription factors, leading to type-I interferon production. ZBP1-induced NF-kappaB activation probably involves the recruitment of the RHIM containing kinases RIPK1 and RIPK3 (By similarity).
GENATLAS Biochemistry:
beta-actin mRNA zipcode binding protein,68kDa,,some homology with KOC,possibly involved in localization of beta-actin at the leading edge of fibroblasts

Phenotypes From GWAS Catalog for ZBP1 Gene

Gene Ontology (GO) - Molecular Function for ZBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 17618271
GO:0003692 left-handed Z-DNA binding NAS 11842111
GO:0005515 protein binding IPI 19590578
genes like me logo Genes that share ontologies with ZBP1: view
genes like me logo Genes that share phenotypes with ZBP1: view

Animal Models for ZBP1 Gene

MGI Knock Outs for ZBP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ZBP1 Gene

Localization for ZBP1 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 ZBP1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
endosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ZBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19158679
GO:0005737 cytoplasm IDA 19158679
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with ZBP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ZBP1 Gene

Pathways & Interactions for ZBP1 Gene

genes like me logo Genes that share pathways with ZBP1: view

Gene Ontology (GO) - Biological Process for ZBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0032479 regulation of type I interferon production TAS --
GO:0032481 positive regulation of type I interferon production TAS --
GO:0045087 innate immune response IEA --
GO:0060340 positive regulation of type I interferon-mediated signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with ZBP1: view

No data available for SIGNOR curated interactions for ZBP1 Gene

Drugs & Compounds for ZBP1 Gene

No Compound Related Data Available

Transcripts for ZBP1 Gene

mRNA/cDNA for ZBP1 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 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 ZBP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - -
SP5: - -
SP6: - - -
SP7: - -
SP8: - - -
SP9:

Relevant External Links for ZBP1 Gene

GeneLoc Exon Structure for
ZBP1

Expression for ZBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZBP1 Gene

This gene is overexpressed in Whole Blood (x22.9) and Spleen (x7.8).

Protein differential expression in normal tissues from HIPED for ZBP1 Gene

This gene is overexpressed in Platelet (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZBP1 Gene



Protein tissue co-expression partners for ZBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZBP1

SOURCE GeneReport for Unigene cluster for ZBP1 Gene:

Hs.302123

mRNA Expression by UniProt/SwissProt for ZBP1 Gene:

Q9H171-ZBP1_HUMAN
Tissue specificity: Highly expressed in lymphatic tissues including lymph node, leukocytes, tonsil, bone marrow and spleen. Expressed to a lesser extent in thymus, lung and liver.

Evidence on tissue expression from TISSUES for ZBP1 Gene

  • Blood(4.3)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with ZBP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBP1 Gene

Orthologs for ZBP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBP1 31 30
  • 98.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZBP1 31 30
  • 69.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zbp1 17 31 30
  • 65.18 (n)
rat
(Rattus norvegicus)
Mammalia Zbp1 30
  • 63.25 (n)
dog
(Canis familiaris)
Mammalia ZBP1 31
  • 49 (a)
OneToOne
Species where no ortholog for ZBP1 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZBP1 Gene

ENSEMBL:
Gene Tree for ZBP1 (if available)
TreeFam:
Gene Tree for ZBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZBP1: view image

Paralogs for ZBP1 Gene

No data available for Paralogs for ZBP1 Gene

Variants for ZBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBP1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
770672 Benign: not provided 57,613,163(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
779046 Likely Benign: not provided 57,616,331(-) C/A MISSENSE_VARIANT,INTRON_VARIANT
787496 Benign: not provided 57,604,597(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs16981187 - p.Asp154His
rs2073145 - p.Glu88Lys

Additional dbSNP identifiers (rs#s) for ZBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZBP1 Gene

Variant ID Type Subtype PubMed ID
esv2758802 CNV loss 17122850

Variation tolerance for ZBP1 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.37; 85.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBP1 Gene

Disorders for ZBP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ZBP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
allergic cutaneous vasculitis
  • allergic cutaneous angiitis
leukorrhea
  • discharge - leukorrhea
uterine inversion
  • inversion of uterus during delivery
tracheitis
  • acute tracheitis
tetanus neonatorum
  • neonatal tetanus
- elite association - COSMIC cancer census association via MalaCards
Search ZBP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZBP1 Gene

Publications for ZBP1 Gene

No publications were found for ZBP1 Gene.

Products for ZBP1 Gene

Sources for ZBP1 Gene