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

Gene ID: 81030, updated on 3-Apr-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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Location:
20q13.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (57603852..57620426, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59381747..59398460, complement)
105.20220307 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. Telomere-to-mitochondria signalling by ZBP1 mediates replicative crisis. Nassour J, et al. Nature, 2023 Feb. PMID 36755096, Free PMC Article
  2. ZBP1-Mediated Necroptosis: Mechanisms and Therapeutic Implications. Chen XY, et al. Molecules, 2022 Dec 21. PMID 36615244, Free PMC Article
  3. Fusobacterium nucleatum triggers proinflammatory cell death via Z-DNA binding protein 1 in apical periodontitis. Liu H, et al. Cell Commun Signal, 2022 Dec 20. PMID 36539813, Free PMC Article
  4. Z-DNA/RNA Binding Protein 1 Senses Mitochondrial DNA to Induce Receptor-Interacting Protein Kinase-3/Mixed Lineage Kinase Domain-Like-Driven Necroptosis in Developmental Sevoflurane Neurotoxicity. Wang WY, et al. Neuroscience, 2022 Dec 15. PMID 36370933
  5. Z-DNA binding protein 1 promotes heatstroke-induced cell death. Yuan F, et al. Science, 2022 May 6. PMID 35511979

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Heartbreakers: innate sensors ZBP1 and cGAS linked to cardiotoxicity.
    Title: Heartbreakers: innate sensors ZBP1 and cGAS linked to cardiotoxicity.
  4. 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.
  5. Z-form nucleic acid-binding protein 1 (ZBP1) as a sensor of viral and cellular Z-RNAs: walking the razor's edge.
    Title: Z-form nucleic acid-binding protein 1 (ZBP1) as a sensor of viral and cellular Z-RNAs: walking the razor's edge.
  6. ADAR1 and ZBP1 in innate immunity, cell death, and disease.
    Title: ADAR1 and ZBP1 in innate immunity, cell death, and disease.
  7. Telomere-to-mitochondria signalling by ZBP1 mediates replicative crisis.
    Title: Telomere-to-mitochondria signalling by ZBP1 mediates replicative crisis.
  8. ZBP1-Mediated Necroptosis: Mechanisms and Therapeutic Implications.
    Title: ZBP1-Mediated Necroptosis: Mechanisms and Therapeutic Implications.
  9. Fusobacterium nucleatum triggers proinflammatory cell death via Z-DNA binding protein 1 in apical periodontitis.
    Title: Fusobacterium nucleatum triggers proinflammatory cell death via Z-DNA binding protein 1 in apical periodontitis.
  10. Human ZBP1 induces cell death-independent inflammatory signaling via RIPK3 and RIPK1.
    Title: Human ZBP1 induces cell death-independent inflammatory signaling via RIPK3 and RIPK1.
Submit: New GeneRIF Correction See all GeneRIFs (39)

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)

Genotypes

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 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 pyroptosis 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_2023_10

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

  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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