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Protein

Deoxyribonuclease-1

Gene

DNASE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity).By similarity

Catalytic activityi

Endonucleolytic cleavage to 5'-phosphodinucleotide and 5'-phosphooligonucleotide end-products.

Cofactori

Ca2+, Mg2+Note: Divalent metal cations. Prefers Ca2+ or Mg2+.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei100By similarity1
Active sitei156By similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

Actin-binding, Calcium

Enzyme and pathway databases

BioCyciZFISH:HS05036-MONOMER.
BRENDAi3.1.21.1. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Deoxyribonuclease-1 (EC:3.1.21.1)
Alternative name(s):
Deoxyribonuclease I
Short name:
DNase I
INN: Dornase alfa
Gene namesi
Name:DNASE1
Synonyms:DNL1, DRNI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:2956. DNASE1.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular region Source: ProtInc
  • nuclear envelope Source: UniProtKB-SubCell
  • nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus, Secreted

Pathology & Biotechi

Involvement in diseasei

Systemic lupus erythematosus (SLE)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
See also OMIM:152700

Pharmaceutical usei

Available under the name Pulmozyme (Genentech). Used to reduce the viscosity of cystic fibrosis sputum by hydrolyzing the extracellular DNA released by degenerating leukocytes that accumulate in response to infection.

Keywords - Diseasei

Systemic lupus erythematosus

Organism-specific databases

DisGeNETi1773.
MalaCardsiDNASE1.
MIMi152700. phenotype.
OpenTargetsiENSG00000213918.
Orphaneti536. Systemic lupus erythematosus.
PharmGKBiPA27427.

Chemistry databases

ChEMBLiCHEMBL3351219.

Polymorphism and mutation databases

BioMutaiDNASE1.
DMDMi118919.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 222 PublicationsAdd BLAST22
ChainiPRO_000000727723 – 282Deoxyribonuclease-1Add BLAST260

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi40N-linked (GlcNAc...)1
Disulfide bondi123 ↔ 126By similarity
Glycosylationi128N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi195 ↔ 231Essential for enzymatic activityBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP24855.
PeptideAtlasiP24855.
PRIDEiP24855.

PTM databases

iPTMnetiP24855.
PhosphoSitePlusiP24855.

Expressioni

Tissue specificityi

Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.

Gene expression databases

BgeeiENSG00000213918.
CleanExiHS_DNASE1.
ExpressionAtlasiP24855. baseline and differential.
GenevisibleiP24855. HS.

Organism-specific databases

HPAiHPA010703.

Interactioni

Protein-protein interaction databases

BioGridi108112. 1 interactor.
MINTiMINT-4722539.
STRINGi9606.ENSP00000246949.

Chemistry databases

BindingDBiP24855.

Structurei

Secondary structure

1282
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi24 – 34Combined sources11
Helixi35 – 38Combined sources4
Helixi41 – 51Combined sources11
Beta strandi55 – 62Combined sources8
Helixi68 – 77Combined sources10
Turni78 – 80Combined sources3
Beta strandi86 – 89Combined sources4
Beta strandi93 – 98Combined sources6
Beta strandi100 – 106Combined sources7
Turni108 – 110Combined sources3
Beta strandi112 – 118Combined sources7
Turni124 – 127Combined sources4
Beta strandi136 – 141Combined sources6
Beta strandi149 – 154Combined sources6
Helixi159 – 161Combined sources3
Helixi162 – 180Combined sources19
Beta strandi185 – 190Combined sources6
Turni195 – 197Combined sources3
Helixi200 – 205Combined sources6
Helixi207 – 210Combined sources4
Beta strandi214 – 216Combined sources3
Beta strandi225 – 228Combined sources4
Beta strandi234 – 240Combined sources7
Helixi241 – 246Combined sources6
Helixi257 – 260Combined sources4
Helixi265 – 271Combined sources7
Beta strandi277 – 281Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AWNX-ray1.95A23-282[»]
ProteinModelPortaliP24855.
SMRiP24855.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNase I family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IFZB. Eukaryota.
ENOG410Z4MV. LUCA.
GeneTreeiENSGT00390000013146.
HOGENOMiHOG000059570.
HOVERGENiHBG051368.
InParanoidiP24855.
KOiK11994.
OMAiTSTHCAY.
OrthoDBiEOG091G0I0B.
PhylomeDBiP24855.
TreeFamiTF329541.

Family and domain databases

Gene3Di3.60.10.10. 1 hit.
InterProiIPR018057. Deoxyribonuclease-1_AS.
IPR016202. DNase_I.
IPR033125. DNASE_I_2.
IPR005135. Endo/exonuclease/phosphatase.
[Graphical view]
PANTHERiPTHR11371. PTHR11371. 1 hit.
PIRSFiPIRSF000988. DNase_I_euk. 1 hit.
PRINTSiPR00130. DNASEI.
SMARTiSM00476. DNaseIc. 1 hit.
[Graphical view]
SUPFAMiSSF56219. SSF56219. 1 hit.
PROSITEiPS00919. DNASE_I_1. 1 hit.
PS00918. DNASE_I_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P24855-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRGMKLLGAL LALAALLQGA VSLKIAAFNI QTFGETKMSN ATLVSYIVQI
60 70 80 90 100
LSRYDIALVQ EVRDSHLTAV GKLLDNLNQD APDTYHYVVS EPLGRNSYKE
110 120 130 140 150
RYLFVYRPDQ VSAVDSYYYD DGCEPCGNDT FNREPAIVRF FSRFTEVREF
160 170 180 190 200
AIVPLHAAPG DAVAEIDALY DVYLDVQEKW GLEDVMLMGD FNAGCSYVRP
210 220 230 240 250
SQWSSIRLWT SPTFQWLIPD SADTTATPTH CAYDRIVVAG MLLRGAVVPD
260 270 280
SALPFNFQAA YGLSDQLAQA ISDHYPVEVM LK
Length:282
Mass (Da):31,434
Last modified:March 1, 1992 - v1
Checksum:i040042E2D23555B6
GO
Isoform 2 (identifier: P24855-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MRGMKLLGAL...ALVQEVRDSH → MHQTPITTWS...PLSGSSPGSQ
     67-183: Missing.
     268-282: AQAISDHYPVEVMLK → FSVHTCSGAGLGERHGLPASAALPSNTCRAGTHRVST

Note: No experimental confirmation available.
Show »
Length:187
Mass (Da):19,771
Checksum:iC66A988635746FB9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti143R → Q in BAE96964 (PubMed:16771825).Curated1

Polymorphismi

At least 6 alleles of DNASE1 are known: DNASE1*1 to DNASE1*6. The sequence shown is that of DNASE1*2.4 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0244342R → S.Corresponds to variant rs8176927dbSNPEnsembl.1
Natural variantiVAR_00226431Q → E in allele DNASE1*4. Corresponds to variant rs77254040dbSNPEnsembl.1
Natural variantiVAR_029172107R → G.Corresponds to variant rs8176928dbSNPEnsembl.1
Natural variantiVAR_009300114V → M in allele DNASE1*5. Corresponds to variant rs530214101dbSNPEnsembl.1
Natural variantiVAR_024435127G → R.Corresponds to variant rs8176919dbSNPEnsembl.1
Natural variantiVAR_002265154P → A in allele DNASE1*3. Corresponds to variant rs1799891dbSNPEnsembl.1
Natural variantiVAR_009301207R → C in allele DNASE1*6. Corresponds to variant rs148373909dbSNPEnsembl.1
Natural variantiVAR_029173231C → Y.Corresponds to variant rs8176940dbSNPEnsembl.1
Natural variantiVAR_002266244R → Q in allele DNASE1*1. 1 PublicationCorresponds to variant rs1053874dbSNPEnsembl.1
Natural variantiVAR_029174246A → P.Corresponds to variant rs8176939dbSNPEnsembl.1
Natural variantiVAR_029175262G → D.Corresponds to variant rs8176924dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0569741 – 66MRGMK…VRDSH → MHQTPITTWSVSHWDGTAIR SATCSCTGLTRCLRWTATTT MMAASPAGTTPSTESQPLSG SSPGSQ in isoform 2. 1 PublicationAdd BLAST66
Alternative sequenceiVSP_05697567 – 183Missing in isoform 2. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_056976268 – 282AQAIS…EVMLK → FSVHTCSGAGLGERHGLPAS AALPSNTCRAGTHRVST in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55983 mRNA. Translation: AAA63170.1.
D83195 Genomic DNA. Translation: BAA11841.1.
AJ298844 mRNA. Translation: CAC12813.1.
AB188151 mRNA. Translation: BAE96964.1.
AB188152 mRNA. Translation: BAE96965.1.
AK300914 mRNA. Translation: BAG62547.1.
AC005203 Genomic DNA. Translation: AAC24721.1.
AC006111 Genomic DNA. No translation available.
CH471112 Genomic DNA. Translation: EAW85344.1.
BC029437 mRNA. Translation: AAH29437.1.
CCDSiCCDS10507.1. [P24855-1]
PIRiA38417. NDHU1.
RefSeqiNP_005214.2. NM_005223.3. [P24855-1]
XP_011520695.1. XM_011522393.2. [P24855-1]
XP_016878488.1. XM_017022999.1. [P24855-1]
XP_016878492.1. XM_017023003.1. [P24855-2]
XP_016878493.1. XM_017023004.1. [P24855-2]
XP_016878494.1. XM_017023005.1. [P24855-2]
XP_016878495.1. XM_017023006.1. [P24855-2]
UniGeneiHs.629638.
Hs.733045.

Genome annotation databases

EnsembliENST00000246949; ENSP00000246949; ENSG00000213918. [P24855-1]
ENST00000407479; ENSP00000385905; ENSG00000213918. [P24855-1]
GeneIDi1773.
KEGGihsa:1773.
UCSCiuc002cvr.4. human. [P24855-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Pulmozyme

Clinical information on Pulmozyme

Wikipedia

Deoxyribonuclease entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55983 mRNA. Translation: AAA63170.1.
D83195 Genomic DNA. Translation: BAA11841.1.
AJ298844 mRNA. Translation: CAC12813.1.
AB188151 mRNA. Translation: BAE96964.1.
AB188152 mRNA. Translation: BAE96965.1.
AK300914 mRNA. Translation: BAG62547.1.
AC005203 Genomic DNA. Translation: AAC24721.1.
AC006111 Genomic DNA. No translation available.
CH471112 Genomic DNA. Translation: EAW85344.1.
BC029437 mRNA. Translation: AAH29437.1.
CCDSiCCDS10507.1. [P24855-1]
PIRiA38417. NDHU1.
RefSeqiNP_005214.2. NM_005223.3. [P24855-1]
XP_011520695.1. XM_011522393.2. [P24855-1]
XP_016878488.1. XM_017022999.1. [P24855-1]
XP_016878492.1. XM_017023003.1. [P24855-2]
XP_016878493.1. XM_017023004.1. [P24855-2]
XP_016878494.1. XM_017023005.1. [P24855-2]
XP_016878495.1. XM_017023006.1. [P24855-2]
UniGeneiHs.629638.
Hs.733045.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AWNX-ray1.95A23-282[»]
ProteinModelPortaliP24855.
SMRiP24855.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108112. 1 interactor.
MINTiMINT-4722539.
STRINGi9606.ENSP00000246949.

Chemistry databases

BindingDBiP24855.
ChEMBLiCHEMBL3351219.

PTM databases

iPTMnetiP24855.
PhosphoSitePlusiP24855.

Polymorphism and mutation databases

BioMutaiDNASE1.
DMDMi118919.

Proteomic databases

PaxDbiP24855.
PeptideAtlasiP24855.
PRIDEiP24855.

Protocols and materials databases

DNASUi1773.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000246949; ENSP00000246949; ENSG00000213918. [P24855-1]
ENST00000407479; ENSP00000385905; ENSG00000213918. [P24855-1]
GeneIDi1773.
KEGGihsa:1773.
UCSCiuc002cvr.4. human. [P24855-1]

Organism-specific databases

CTDi1773.
DisGeNETi1773.
GeneCardsiDNASE1.
HGNCiHGNC:2956. DNASE1.
HPAiHPA010703.
MalaCardsiDNASE1.
MIMi125505. gene.
152700. phenotype.
neXtProtiNX_P24855.
OpenTargetsiENSG00000213918.
Orphaneti536. Systemic lupus erythematosus.
PharmGKBiPA27427.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFZB. Eukaryota.
ENOG410Z4MV. LUCA.
GeneTreeiENSGT00390000013146.
HOGENOMiHOG000059570.
HOVERGENiHBG051368.
InParanoidiP24855.
KOiK11994.
OMAiTSTHCAY.
OrthoDBiEOG091G0I0B.
PhylomeDBiP24855.
TreeFamiTF329541.

Enzyme and pathway databases

BioCyciZFISH:HS05036-MONOMER.
BRENDAi3.1.21.1. 2681.

Miscellaneous databases

ChiTaRSiDNASE1. human.
GeneWikiiDeoxyribonuclease_I.
GenomeRNAii1773.
PROiP24855.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213918.
CleanExiHS_DNASE1.
ExpressionAtlasiP24855. baseline and differential.
GenevisibleiP24855. HS.

Family and domain databases

Gene3Di3.60.10.10. 1 hit.
InterProiIPR018057. Deoxyribonuclease-1_AS.
IPR016202. DNase_I.
IPR033125. DNASE_I_2.
IPR005135. Endo/exonuclease/phosphatase.
[Graphical view]
PANTHERiPTHR11371. PTHR11371. 1 hit.
PIRSFiPIRSF000988. DNase_I_euk. 1 hit.
PRINTSiPR00130. DNASEI.
SMARTiSM00476. DNaseIc. 1 hit.
[Graphical view]
SUPFAMiSSF56219. SSF56219. 1 hit.
PROSITEiPS00919. DNASE_I_1. 1 hit.
PS00918. DNASE_I_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDNAS1_HUMAN
AccessioniPrimary (citable) accession number: P24855
Secondary accession number(s): B4DV35, Q14UU9, Q14UV0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: November 2, 2016
This is version 176 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Pharmaceutical, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.