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

Gene ID: 81030, updated on 13-Jan-2020

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
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]
Expression
Biased expression in spleen (RPKM 3.6), appendix (RPKM 3.2) and 13 other tissues See more
Orthologs

Genomic context

See ZBP1 in Genome Data Viewer
Location:
20q13.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (57603852..57620480, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56178902..56195632, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene phosphoenolpyruvate carboxykinase 1 Neighboring gene uncharacterized LOC105372690 Neighboring gene prostate transmembrane protein, androgen induced 1 Neighboring gene uncharacterized LOC105372692 Neighboring gene NF-kappaB interacting lncRNA

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
left-handed Z-DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
 
positive regulation of type I interferon-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of type I interferon production TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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/Swiss-Prot
    Q9H171
    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
    Q9H171
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    57603852..57620480 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529057.2XP_011527359.1  Z-DNA-binding protein 1 isoform X1

    Conserved Domains (1) summary
    cl02659
    Location:1466
    z-alpha; Adenosine deaminase z-alpha domain
  2. XM_011529058.2XP_011527360.1  Z-DNA-binding protein 1 isoform X2

    Conserved Domains (1) summary
    cl02659
    Location:1466
    z-alpha; Adenosine deaminase z-alpha domain
  3. XM_017028086.1XP_016883575.1  Z-DNA-binding protein 1 isoform X3

RNA

  1. XR_001754414.1 RNA Sequence

  2. XR_001754412.1 RNA Sequence

  3. XR_001754409.1 RNA Sequence

  4. XR_001754413.1 RNA Sequence

  5. XR_936634.1 RNA Sequence

  6. XR_001754410.1 RNA Sequence

  7. XR_001754408.1 RNA Sequence

  8. XR_001754415.1 RNA Sequence

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