DNASE1 - deoxyribonuclease 1 Gene

Homo sapiens

Also known as DNL1; DRNI

Gene ID: 1773 | Gene type: protein coding

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	Reference	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

Cat. No.	Product Name	Accession	Purity
HY-P72974	DNase I Protein, Human (HEK293, His)	P24855 (M1-K282)	≥95%

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03894	DNASE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS03895	DNASE1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS03896	DNASE1L2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS03897	DNASE1L3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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