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UniProtKB - P24855 (DNAS1_HUMAN)

UniProt

P24855 - DNAS1_HUMAN

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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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei100 – 1001By similarity
Active sitei156 – 1561By similarity

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

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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

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

Chemistry

ChEMBLiCHEMBL3351219.

Polymorphism and mutation databases

BioMutaiDNASE1.
DMDMi118919.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 22222 PublicationsAdd
BLAST
Chaini23 – 282260Deoxyribonuclease-1PRO_0000007277Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi40 – 401N-linked (GlcNAc...)
Disulfide bondi123 ↔ 126By similarity
Glycosylationi128 – 1281N-linked (GlcNAc...)Sequence analysis
Disulfide bondi195 ↔ 231Essential for enzymatic activityBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP24855.
PeptideAtlasiP24855.
PRIDEiP24855.

PTM databases

iPTMnetiP24855.
PhosphoSiteiP24855.

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 interaction.
MINTiMINT-4722539.
STRINGi9606.ENSP00000246949.

Structurei

Secondary structure

1
282
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi24 – 3411Combined sources
Helixi35 – 384Combined sources
Helixi41 – 5111Combined sources
Beta strandi55 – 628Combined sources
Helixi68 – 7710Combined sources
Turni78 – 803Combined sources
Beta strandi86 – 894Combined sources
Beta strandi93 – 986Combined sources
Beta strandi100 – 1067Combined sources
Turni108 – 1103Combined sources
Beta strandi112 – 1187Combined sources
Turni124 – 1274Combined sources
Beta strandi136 – 1416Combined sources
Beta strandi149 – 1546Combined sources
Helixi159 – 1613Combined sources
Helixi162 – 18019Combined sources
Beta strandi185 – 1906Combined sources
Turni195 – 1973Combined sources
Helixi200 – 2056Combined sources
Helixi207 – 2104Combined sources
Beta strandi214 – 2163Combined sources
Beta strandi225 – 2284Combined sources
Beta strandi234 – 2407Combined sources
Helixi241 – 2466Combined sources
Helixi257 – 2604Combined sources
Helixi265 – 2717Combined sources
Beta strandi277 – 2815Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4AWNX-ray1.95A23-282[»]
ProteinModelPortaliP24855.
SMRiP24855. Positions 23-282.
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.
PfamiPF03372. Exo_endo_phos. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti143 – 1431R → Q in BAE96964 (PubMed:16771825).Curated

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21R → S.
Corresponds to variant rs8176927 [ dbSNP | Ensembl ].		VAR_024434
Natural varianti31 – 311Q → E in allele DNASE1*4.
Corresponds to variant rs77254040 [ dbSNP | Ensembl ].		VAR_002264
Natural varianti107 – 1071R → G.
Corresponds to variant rs8176928 [ dbSNP | Ensembl ].		VAR_029172
Natural varianti114 – 1141V → M in allele DNASE1*5.
Corresponds to variant rs530214101 [ dbSNP | Ensembl ].		VAR_009300
Natural varianti127 – 1271G → R.
Corresponds to variant rs8176919 [ dbSNP | Ensembl ].		VAR_024435
Natural varianti154 – 1541P → A in allele DNASE1*3.
Corresponds to variant rs1799891 [ dbSNP | Ensembl ].		VAR_002265
Natural varianti207 – 2071R → C in allele DNASE1*6.
Corresponds to variant rs148373909 [ dbSNP | Ensembl ].		VAR_009301
Natural varianti231 – 2311C → Y.
Corresponds to variant rs8176940 [ dbSNP | Ensembl ].		VAR_029173
Natural varianti244 – 2441R → Q in allele DNASE1*1. 1 Publication
Corresponds to variant rs1053874 [ dbSNP | Ensembl ].		VAR_002266
Natural varianti246 – 2461A → P.
Corresponds to variant rs8176939 [ dbSNP | Ensembl ].		VAR_029174
Natural varianti262 – 2621G → D.
Corresponds to variant rs8176924 [ dbSNP | Ensembl ].		VAR_029175

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6666MRGMK…VRDSH → MHQTPITTWSVSHWDGTAIR SATCSCTGLTRCLRWTATTT MMAASPAGTTPSTESQPLSG SSPGSQ in isoform 2. 1 PublicationVSP_056974Add
BLAST
Alternative sequencei67 – 183117Missing in isoform 2. 1 PublicationVSP_056975Add
BLAST
Alternative sequencei268 – 28215AQAIS…EVMLK → FSVHTCSGAGLGERHGLPAS AALPSNTCRAGTHRVST in isoform 2. 1 PublicationVSP_056976Add
BLAST

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]
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]
UniGeneiHs.629638.
Hs.733045.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4AWNX-ray1.95A23-282[»]
ProteinModelPortaliP24855.
SMRiP24855. Positions 23-282.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

Chemistry

ChEMBLiCHEMBL3351219.

PTM databases

iPTMnetiP24855.
PhosphoSiteiP24855.

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.
GeneCardsiDNASE1.
HGNCiHGNC:2956. DNASE1.
HPAiHPA010703.
MalaCardsiDNASE1.
MIMi125505. gene.
152700. phenotype.
neXtProtiNX_P24855.
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

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.
PfamiPF03372. Exo_endo_phos. 1 hit.
[Graphical view]
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: September 7, 2016
This is version 174 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.