DNASE1 - deoxyribonuclease 1 Gene

Also Known as DNL1; DRNI

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1773

About DNASE1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:3,611,760-3,665,461 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in small intestine (RPKM 12.9), duodenum (RPKM 11.9) and 25 other tissues.

Summary

This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

DNASE1 Products (6)

mRNA	Protein	Name
NM_001351825.2	NP_001338754.1	deoxyribonuclease-1 isoform 1 precursor
NM_001387135.1	NP_001374064.1	deoxyribonuclease-1 isoform 1 precursor
NM_001387139.1	NP_001374068.1	deoxyribonuclease-1 isoform 2 precursor
NM_001387140.1	NP_001374069.1	deoxyribonuclease-1 isoform 3 precursor
NM_001387141.1	NP_001374070.1	deoxyribonuclease-1 isoform 4
NM_005223.4	NP_005214.2	deoxyribonuclease-1 isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12849983	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNASE1 Protein Structure

Exo_endo_phos

0
100
200
282 a.a.

Protein Preferred Names	Protein Names
deoxyribonuclease-1	DNase I, lysosomal

Recombinant DNASE1 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P72974	DNase I Protein, Human (HEK293, His)	P24855-1 (L23-K282)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Systemic Lupus Erythematosus 16	SLEB16 Autosomal Systemic Lupus Erythematosus Autosomal Sle Familial Sle Familial Systemic Lupus Erythematosus Lupus Erythematosus, Systemic, Type 16
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Lupus Erythematosus	Lupus Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus, Systemic Subacute Cutaneous Lupus Le - [Lupus Erythematosus]
Maxillary Sinus Inverted Papilloma	Inverted Papilloma Of The Maxillary Sinus
Maxillary Sinus Benign Neoplasm	Neoplasm Of Maxillary Sinus Tumor Of Maxillofacial Sinus Maxillary Sinus Neoplasms Maxillary Sinus Neoplasm
Inflammatory Bowel Disease 29	IBD29 {Inflammatory Bowel Disease 29}
Bronchitis	Chronic Bronchitis Acute Bronchitis Bronchitis, Chronic Acute Bronchitis And Bronchiolitis Chest Cold Chest Infection Ci - Chest Infection Recurrent Wheezy Bronchitis Bronchitis Chronic Lower Respiratory Tract Infection Acute Lower Respiratory Tract Infection Chronic Bronchitis Nos Senile Bronchitis Bronchitis Nos In Those Under L5 Years Of Age Bronchitis Nos
Corneal Dystrophy, Posterior Polymorphous, 4	PPCD4 Posterior Polymorphous Corneal Dystrophy 4
Acute Frontal Sinusitis
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Ciliary Dyskinesia, Primary, 1	CILD1 Pcd Primary Ciliary Dyskinesia 1 Kartagener Syndrome Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Immotile Cilia Syndrome Ics Polynesian Bronchiectasis Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus Ics1 Immotile Cilia Syndrome 1 Primary Ciliary Dyskinesia KTGS Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome Kartagener Type Primary Ciliary Dyskinesia Kartagener Type Siewert Syndrome Immotile Cilia Dyskinesia, Ciliary, Primary, Type 1 Ciliary Motility Disorders
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Immune Deficiency Disease	Immunodeficiency Primary Immunodeficiency Primary Immunodeficiency Disease Immunologic Deficiency Syndromes Hypoimmunity Immune Deficiency Disorder Immunodeficiency Syndrome Immune Disorder Primary Immune Deficiency Disorder Immune System Diseases Human Immunodeficiency Virus Infection Hiv - [Human Immunodeficiency Virus Infection] Hiv Positive Nos Hiv Disease Acquired Immune Deficiency Syndrome-Related Complex Aids-Like Syndrome Aids-Related Complex Nos Arc - [Aids-Related Complex] Immunodeficiency Due To Human Immunodeficiency Virus Infection Unspecified Human Immunodeficiency Virus Disease Hiv Disease Nos Human Immunodeficiency Virus Positive Nos Hiv Nos Deficiency Of Complement Initial Pathway Deficiency Of Complement Terminal Pathway Cfdd - [Complement Factor D Deficiency] Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency Nonfamilial Hypogammaglobulinaemia Common Variable Immune Deficiency Nonfamilial Agammaglobulinaemia Common Variable Agammaglobulinaemia Agammaglobulinaemia Nos Agammaglobulinaemia Antibody Deficiency Syndrome Hypogammaglobulinaemia Antibody Deficiency Syndrome Acquired Agammaglobulinaemia Nos Hypogammaglobulinaemia Nos Hyper Igm
Aicardi-Goutieres Syndrome	Aicardi Goutieres Syndrome Cree Encephalitis Aicardi-Goutières Syndrome Encephalopathy With Basal Ganglia Calcification Ags Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid Pseudotoxoplasmosis Syndrome Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis Aicardi-Goutieres Syndrome 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-145996	STC314		/	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03894	DNASE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03895	DNASE1L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03896	DNASE1L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03897	DNASE1L3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18729	Dnase1l3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20150	Dnase1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25216	Dnase1l3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26654	Dnase1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P991956	ABB071	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DNASE1	VGNC	VGNC:71946
Rattus norvegicus	DNASE1	RGD	RGD:2510
Bos taurus	DNASE1	VGNC	VGNC:28132
Mus musculus	DNASE1	MGD	MGI:103157
Canis familiaris	DNASE1	VGNC	VGNC:40023
Felis catus	DNASE1	VGNC	VGNC:61551
Others	DNASE1	NCBI