ZBP1 (Z-DNA binding protein 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 81030
• Gene name: Z-DNA binding protein 1
• Gene symbol: ZBP1
• Synonyms (NCBI Gene): C20orf183, DAI, DLM-1, DLM1
• Chromosome: 20
• Chromosome location: 20q13.31
• 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 o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1501871	hsa-miR-122	CLIP-seq
MIRT1501872	hsa-miR-1254	CLIP-seq
MIRT1501873	hsa-miR-3116	CLIP-seq
MIRT1501874	hsa-miR-4254	CLIP-seq
MIRT1501875	hsa-miR-4634	CLIP-seq

Gene ontology (GO) Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002218	Process	Activation of innate immune response	ISS
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	17618271
GO:0003677	Function	DNA binding	IEA
GO:0003692	Function	Left-handed Z-DNA binding	NAS	11842111
GO:0003723	Function	RNA binding	IDA	34192517
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	ISS
GO:0003726	Function	Double-stranded RNA adenosine deaminase activity	IEA
GO:0005515	Function	Protein binding	IPI	19590578, 32814053, 33348174
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16876127, 16990255, 19158679
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IC	34192517
GO:0005737	Component	Cytoplasm	IDA	16876127, 16990255, 19158679
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	17618271
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0042802	Function	Identical protein binding	IPI	19095800
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0045087	Process	Innate immune response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0050832	Process	Defense response to fungus	ISS
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	IMP	32200799
GO:0051607	Process	Defense response to virus	ISS
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IBA
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IEA
GO:0060545	Process	Positive regulation of necroptotic process	IEA
GO:0060545	Process	Positive regulation of necroptotic process	IMP	32200799
GO:0060545	Process	Positive regulation of necroptotic process	ISS
GO:0070269	Process	Pyroptotic inflammatory response	ISS
GO:0097527	Process	Necroptotic signaling pathway	IDA	22265413
GO:0097528	Process	Execution phase of necroptosis	IDA	24316671
GO:0140374	Process	Antiviral innate immune response	IDA	34192517
GO:2000659	Process	Regulation of interleukin-1-mediated signaling pathway	ISS

Other IDs

• MIM: 606750
• HGNC: 16176
• e!Ensembl: ENSG00000124256

Protein

• UniProt ID: Q9H171
• Protein name: Z-DNA-binding protein 1 (DNA-dependent activator of IFN-regulatory factors) (DAI) (Tumor stroma and activated macrophage protein DLM-1)
• Protein function: Key innate sensor that recognizes and binds Z-RNA structures, which are produced by a number of viruses, such as herpesvirus, orthomyxovirus or flavivirus, and triggers different forms of cell death (PubMed:32200799). ZBP1 acts as an essential m
• PDB: 2L4M , 2LNB , 3EYI , 4KA4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02295	z-alpha	11 → 69	Adenosine deaminase z-alpha domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in lymphatic tissues including lymph node, leukocytes, tonsil, bone marrow and spleen (PubMed:11842111). Expressed to a lesser extent in thymus, lung and liver (PubMed:11842111). {ECO:0000269|PubMed:11842111}.
• Sequence:

  MAQAPADPGREGHLEQRILQVLTEAGSPVKLAQLVKECQAPKRELNQVLYRMKKELKVSL
  TSPATWCLGGTDPEGEGPAELALSSPAERPQQHAATIPETPGPQFSQQREEDIYRFLKDN
  GPQRALVIAQALGMRTAKDVNRDLYRMKSRHLLDMDEQSKAWTIYRPEDSGRRAKSASII
  YQHNPINMICQNGPNSWISIANSEAIQIGHGNIITRQTVSREDGSAGPRHLPSMAPGDSS
  TWGTLVDPWGPQDIHMEQSILRRVQLGHSNEMRLHGVPSEGPAHIPPGSPPVSATAAGPE
  ASFEARIPSPGTHPEGEAAQRIHMKSCFLEDATIGNSNKMSISPGVAGPGGVAGSGEGEP
  GEDAGRRPADTQSRSHFPRDIGQPITPSHSKLTPKLETMTLGNRSHKAAEGSHYVDEASH
  EGSWWGGGI

• Sequence length: 429

Pathways

KEGG Pathway	Reactome Pathway
Necroptosis	ZBP1(DAI) mediated induction of type I IFNs
Cytosolic DNA-sensing pathway	IRF3 mediated activation of type 1 IFN
	RIP-mediated NFkB activation via ZBP1
	Regulation of innate immune responses to cytosolic DNA

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (17)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (34)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	18490442		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19461076, 22266909	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19461076	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33786632, 39955869	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27893428, 28634361, 29562280, 30779979		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36165492	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38203518	Associate	★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	31377948		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28260904		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36139069	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31572318		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28082419		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	28082419		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37367830	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10190901		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29343810		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29321042	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18490442, 19461076		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10190901, 28673325, 29361136		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18490442, 22266909		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28260904		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28707750		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	28707750	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36139069	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10564822, 19461076, 29236673		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35538559	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical periodontitis	Pubtator	36539813	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37090158	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	27076465		★☆☆☆☆ Found in Text Mining only
Psychotic episodes	Psychosis	BEFREE	28953806		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29070941		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23887627, 30115105		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38111587, 38200309	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31378906, 31524230		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

DDX41 2 shared pathwaysCytosolic DNA-sensing pathway, Regulation of innate immune responses to cytosolic DNA Related via 2 shared pathways including Cytosolic DNA-sensing pathway, Regulation of innate immune responses to cytosolic DNA. NLRP4 2 shared pathwaysIRF3 mediated activation of type 1 IFN, Regulation of innate immune responses to cytosolic DNA Related via 2 shared pathways including IRF3 mediated activation of type 1 IFN, Regulation of innate immune responses to cytosolic DNA. DTX4 2 shared pathwaysIRF3 mediated activation of type 1 IFN, Regulation of innate immune responses to cytosolic DNA Related via 2 shared pathways including IRF3 mediated activation of type 1 IFN, Regulation of innate immune responses to cytosolic DNA. RIPK3 3 shared pathwaysNecroptosis, Cytosolic DNA-sensing pathway, RIP-mediated NFkB activation via ZBP1 Related via 3 shared pathways including Necroptosis, Cytosolic DNA-sensing pathway. MLKL 2 shared pathwaysNecroptosis, Cytosolic DNA-sensing pathway Related via 2 shared pathways including Necroptosis, Cytosolic DNA-sensing pathway.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DDX41	0	[]	2	["Cytosolic DNA-sensing pathway","Regulation of innate immune responses to cytosolic DNA"]	0	[]
NLRP4	0	[]	2	["IRF3 mediated activation of type 1 IFN","Regulation of innate immune responses to cytosolic DNA"]	0	[]
DTX4	0	[]	2	["IRF3 mediated activation of type 1 IFN","Regulation of innate immune responses to cytosolic DNA"]	0	[]
RIPK3	0	[]	3	["Necroptosis","Cytosolic DNA-sensing pathway","RIP-mediated NFkB activation via ZBP1"]	0	[]
MLKL	0	[]	2	["Necroptosis","Cytosolic DNA-sensing pathway"]	0	[]

Diseases Linked via Similar Genes

Acromesomelic dysplasia Linked via 1 of 5 related genesDDX41 Aplastic anemia Linked via 1 of 5 related genesDDX41 Thrombotic microangiopathy Linked via 1 of 5 related genesDDX41 Autism Linked via 1 of 5 related genesNLRP4 Insomnia Linked via 1 of 5 related genesNLRP4

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Acromesomelic dysplasia	1	["DDX41"]
Aplastic anemia	1	["DDX41"]
Thrombotic microangiopathy	1	["DDX41"]
Autism	1	["NLRP4"]
Insomnia	1	["NLRP4"]