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

    Gene ID: 81030, updated on 12-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001160417.2NP_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:1466
      z-alpha; Adenosine deaminase z-alpha domain
    2. NM_001160418.2NP_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:3578
      z-alpha; Adenosine deaminase z-alpha domain
    3. NM_001160419.3NP_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:1466
      z-alpha; Adenosine deaminase z-alpha domain
    4. NM_001323966.2NP_001310895.1  Z-DNA-binding protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AI925506, AL035541
      UniProtKB/Swiss-Prot
      Q9H171
    5. NM_030776.3NP_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:1466
      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_047440525.1XP_047296481.1  Z-DNA-binding protein 1 isoform X2

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

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

      Conserved Domains (1) summary
      cl02659
      Location:1466
      z-alpha; Adenosine deaminase z-alpha domain
    4. XM_047440527.1XP_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_054324085.1XP_054180060.1  Z-DNA-binding protein 1 isoform X6

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

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

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

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

    6. XM_054324086.1XP_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