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

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
A ZBP1 isoform blocks ZBP1-mediated cell death.
Title: A ZBP1 isoform blocks ZBP1-mediated cell death.
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.
ZBP1 condensate formation synergizes Z-NAs recognition and signal transduction.
Title: ZBP1 condensate formation synergizes Z-NAs recognition and signal transduction.
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.
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.
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.
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.
Heartbreakers: innate sensors ZBP1 and cGAS linked to cardiotoxicity.
Title: Heartbreakers: innate sensors ZBP1 and cGAS linked to cardiotoxicity.
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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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 EBI GWAS CatalogPubMed
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

GDB:335751 (e-PCR)
- UniSTS:156601

NoName (e-PCR)
- UniSTS:480466

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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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

NG_031836.1 RefSeqGene

Range

5151..21725

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AI925506, AL035541

UniProtKB/Swiss-Prot

Q9H171
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

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

57603852..57620426 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440525.1 → XP_047296481.1 Z-DNA-binding protein 1 isoform X2
XM_047440526.1 → XP_047296482.1 Z-DNA-binding protein 1 isoform X3
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
XM_047440527.1 → XP_047296483.1 Z-DNA-binding protein 1 isoform X4