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    ZBP1 Z-DNA binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 81030, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZBP1provided by HGNC
    Official Full Name
    Z-DNA binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:16176
    See related
    Ensembl:ENSG00000124256 MIM:606750; AllianceGenome:HGNC:16176
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAI; DLM1; DLM-1; C20orf183
    Summary
    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]
    Annotation information
    Note: ZBP1 (Gene ID: 81030) and IGF2BP1 (Gene ID:10642) share the ZBP1 symbol/alias in common. ZBP1 is a widely used alternative name for insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), which can be confused with the official symbol for ZBP1, Z-DNA binding protein 1 (ZBP1). [09 Aug 2021]
    Expression
    Biased expression in spleen (RPKM 3.6), appendix (RPKM 3.2) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBP1 in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (57603852..57620426, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59381747..59398460, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56178908..56195482, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56143743-56144243 Neighboring gene phosphoenolpyruvate carboxykinase 1 Neighboring gene Sharpr-MPRA regulatory region 2062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56165049-56165804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13064 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:56172128-56172301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56193035-56193894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56229759-56230358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56230359-56230956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56236773-56237645 Neighboring gene prostate transmembrane protein, androgen induced 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56238905-56239419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56241925-56242541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56251833-56252416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56253071-56253587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56253588-56254103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56254668-56255192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56255193-56255716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56257022-56257522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56267863-56268682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56271371-56271903 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:56272784-56273983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56279768-56280362 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:56283453-56284064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56287125-56287736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56290116-56290644 Neighboring gene uncharacterized LOC105372692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56299854-56300354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56300355-56300855 Neighboring gene NF-kappaB interacting lncRNA

    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. ZBP1 condensate formation synergizes Z-NAs recognition and signal transduction. Xie F, et al. Cell Death Dis, 2024 Jul 9. PMID 38982083, Free PMC Article
    2. ZBP1: Innate Sensor Regulating Cell Death and Inflammation. Kuriakose T, et al. Trends Immunol, 2018 Feb. PMID 29236673, Free PMC Article
    3. Enrichment of Zα domains at cytoplasmic stress granules is due to their innate ability to bind to nucleic acids. Gabriel L, et al. J Cell Sci, 2021 May 15. PMID 34037233
    4. DAI-1 Receptor Expression in Placenta in Earlyand Late-Onset Preeclampsia. Nizyaeva NV, et al. Bull Exp Biol Med, 2017 Nov. PMID 29127557
    5. DNA-dependent activator of interferon-regulatory factors (DAI) promotes lupus nephritis by activating the calcium pathway. Zhang W, et al. J Biol Chem, 2013 May 10. PMID 23553627, Free PMC Article

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Solution NMR backbone assignment of the N-terminal tandem Zalpha1-Zalpha2 domains of Z-DNA binding protein 1.
      Title: Solution NMR backbone assignment of the N-terminal tandem Zα1-Zα2 domains of Z-DNA binding protein 1.
    2. A ZBP1 isoform blocks ZBP1-mediated cell death.
      Title: A ZBP1 isoform blocks ZBP1-mediated cell death.
    3. Highly Expressed Z-DNA Binding Protein 1 in Esophageal Cancer Promotes Tumor Growth.
      Title: Highly Expressed Z-DNA Binding Protein 1 in Esophageal Cancer Promotes Tumor Growth.
    4. ZBP1 condensate formation synergizes Z-NAs recognition and signal transduction.
      Title: ZBP1 condensate formation synergizes Z-NAs recognition and signal transduction.
    5. ZBP1 promotes hepatocyte pyroptosis in acute liver injury by regulating the PGAM5/ROS pathway.
      Title: ZBP1 promotes hepatocyte pyroptosis in acute liver injury by regulating the PGAM5/ROS pathway.
    6. Sensing of mitochondrial DNA by ZBP1 promotes RIPK3-mediated necroptosis and ferroptosis in response to diquat poisoning.
      Title: Sensing of mitochondrial DNA by ZBP1 promotes RIPK3-mediated necroptosis and ferroptosis in response to diquat poisoning.
    7. The innovative checkpoint inhibitors of lung adenocarcinoma, cg09897064 methylation and ZBP1 expression reduction, have implications for macrophage polarization and tumor growth in lung cancer.
      Title: The innovative checkpoint inhibitors of lung adenocarcinoma, cg09897064 methylation and ZBP1 expression reduction, have implications for macrophage polarization and tumor growth in lung cancer.
    8. Bile acid-induced IRF3 phosphorylation mediates cell death, inflammatory responses, and fibrosis in cholestasis-induced liver and kidney injury via regulation of ZBP1.
      Title: Bile acid-induced IRF3 phosphorylation mediates cell death, inflammatory responses, and fibrosis in cholestasis-induced liver and kidney injury via regulation of ZBP1.
    9. Heartbreakers: innate sensors ZBP1 and cGAS linked to cardiotoxicity.
      Title: Heartbreakers: innate sensors ZBP1 and cGAS linked to cardiotoxicity.
    10. PANoptosome signaling and therapeutic implications in infection: central role for ZBP1 to activate the inflammasome and PANoptosis.
      Title: PANoptosome signaling and therapeutic implications in infection: central role for ZBP1 to activate the inflammasome and PANoptosis.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    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

    EBI GWAS Catalog

    Description
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    EBI GWAS Catalog
    Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates the gene expression of ZBP1 in human monocyte-derived dendritic cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables double-stranded RNA adenosine deaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables left-handed Z-DNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in antiviral innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response to fungus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in defense response to virus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of necroptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of type I interferon-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pyroptotic inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of interleukin-1-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Z-DNA-binding protein 1
    Names
    DNA-dependent activator of IRFs
    tumor stroma and activated macrophage protein DLM-1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_031836.1 RefSeqGene

      Range
      5151..21725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001160417.2 → NP_001153889.1  Z-DNA-binding protein 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the internal coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
      Source sequence(s)
      AJ300575, AK122761, AK314062, AL035541, DA674238, DB331848
      UniProtKB/TrEMBL
      A2RRL9
      Conserved Domains (1) summary
      cl02659
      Location:14 → 66
      z-alpha; Adenosine deaminase z-alpha domain

    2. NM_001160418.2 → NP_001153890.1  Z-DNA-binding protein 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AJ300575, AK122761, AL035541, DB331848
      Consensus CDS
      CCDS54477.1
      UniProtKB/Swiss-Prot
      Q9H171
      Related
      ENSP00000379167.3, ENST00000395822.7
      Conserved Domains (1) summary
      cl02659
      Location:35 → 78
      z-alpha; Adenosine deaminase z-alpha domain

    3. NM_001160419.3 → NP_001153891.1  Z-DNA-binding protein 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AI659939, CT002036, DA676308
      Consensus CDS
      CCDS54478.1
      UniProtKB/Swiss-Prot
      Q9H171
      Related
      ENSP00000440552.1, ENST00000541799.1
      Conserved Domains (1) summary
      cl02659
      Location:14 → 66
      z-alpha; Adenosine deaminase z-alpha domain

    4. NM_001323966.2 → NP_001310895.1  Z-DNA-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AI925506, AL035541
      UniProtKB/Swiss-Prot
      Q9H171

    5. NM_030776.3 → NP_110403.2  Z-DNA-binding protein 1 isoform a

      See identical proteins and their annotated locations for NP_110403.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AJ300575, AL035541, DB331848
      Consensus CDS
      CCDS13461.1
      UniProtKB/Swiss-Prot
      A2A2F7, B3KVA1, F5GYT1, Q5JY39, Q9BYW4, Q9H171
      UniProtKB/TrEMBL
      A2RRL9
      Related
      ENSP00000360215.3, ENST00000371173.8
      Conserved Domains (1) summary
      cl02659
      Location:14 → 66
      z-alpha; Adenosine deaminase z-alpha domain

    RNA

    1. NR_136660.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AJ300575, AL035541

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      57603852..57620426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440525.1 → XP_047296481.1  Z-DNA-binding protein 1 isoform X2

    2. XM_047440526.1 → XP_047296482.1  Z-DNA-binding protein 1 isoform X3

    3. XM_011529058.3 → XP_011527360.1  Z-DNA-binding protein 1 isoform X1

      Conserved Domains (1) summary
      cl02659
      Location:14 → 66
      z-alpha; Adenosine deaminase z-alpha domain

    4. XM_047440527.1 → XP_047296483.1  Z-DNA-binding protein 1 isoform X4

    RNA

    1. XR_007067480.1 RNA Sequence

    2. XR_007067481.1 RNA Sequence

    3. XR_007067477.1 RNA Sequence

    4. XR_007067479.1 RNA Sequence

    5. XR_001754408.2 RNA Sequence

    6. XR_007067478.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      59381747..59398460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324085.1 → XP_054180060.1  Z-DNA-binding protein 1 isoform X6

    2. XM_054324081.1 → XP_054180056.1  Z-DNA-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      A2RRL9

    3. XM_054324083.1 → XP_054180058.1  Z-DNA-binding protein 1 isoform X2

    4. XM_054324084.1 → XP_054180059.1  Z-DNA-binding protein 1 isoform X3

    5. XM_054324082.1 → XP_054180057.1  Z-DNA-binding protein 1 isoform X1

    6. XM_054324086.1 → XP_054180061.1  Z-DNA-binding protein 1 isoform X4

    RNA

    1. XR_008485314.1 RNA Sequence

    2. XR_008485310.1 RNA Sequence

    3. XR_008485312.1 RNA Sequence

    4. XR_008485313.1 RNA Sequence

    5. XR_008485308.1 RNA Sequence

    6. XR_008485311.1 RNA Sequence

    7. XR_008485307.1 RNA Sequence

    8. XR_008485309.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H171.2 GenPept UniProtKB/Swiss-Prot:Q9H171

    Gene LinkOut

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