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Q13609 (DNSL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Deoxyribonuclease gamma

Short name=DNase gamma
EC=3.1.21.-
Alternative name(s):
DNase I homolog protein DHP2
Deoxyribonuclease I-like 3
Short name=DNase I-like 3
Liver and spleen DNase
Short name=LS-DNase
Short name=LSD
Gene names
Name:DNASE1L3
Synonyms:DHP2, DNAS1L3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length305 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Has DNA hydrolytic activity. Does not bind to actin. Cleaves chromatin DNA to nucleosomal units.

Cofactor

Calcium.

Magnesium.

Enzyme regulation

Inhibited by zinc.

Subcellular location

Nucleus. Note: May first pass through the ER membrane before being imported in the nucleus.

Tissue specificity

Liver and spleen.

Involvement in disease

Systemic lupus erythematosus 16 (SLEB16) [MIM:614420]: A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the DNase I family.

Biophysicochemical properties

pH dependence:

Optimum pH is about 7.2.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13609-1)

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.
Isoform 2 (identifier: Q13609-2)

The sequence of this isoform differs from the canonical sequence as follows:
     78-107: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 By similarity
Chain21 – 305285Deoxyribonuclease gamma
PRO_0000007288

Regions

Motif35 – 5117Bipartite nuclear localization signal Potential
Motif296 – 3049Nuclear localization signal Potential

Sites

Active site1001 By similarity
Active site1551 By similarity

Amino acid modifications

Disulfide bond194 ↔ 231Essential for enzymatic activity By similarity

Natural variations

Alternative sequence78 – 10730Missing in isoform 2.
VSP_047251
Natural variant191L → V in a breast cancer sample; somatic mutation. Ref.10
VAR_036079
Natural variant821G → R in a breast cancer sample; somatic mutation. Ref.10
VAR_036080
Natural variant961N → K. Ref.4
Corresponds to variant rs12491947 [ dbSNP | Ensembl ].
VAR_059249
Natural variant1171Y → S in a colorectal cancer sample; somatic mutation. Ref.10
VAR_036081
Natural variant2061R → C. Ref.9
Corresponds to variant rs35677470 [ dbSNP | Ensembl ].
VAR_061137

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1997. Version 1.
Checksum: BAB9F1A0341E6048

FASTA30535,504
        10         20         30         40         50         60 
MSRELAPLLL LLLSIHSALA MRICSFNVRS FGESKQEDKN AMDVIVKVIK RCDIILVMEI 

        70         80         90        100        110        120 
KDSNNRICPI LMEKLNRNSR RGITYNYVIS SRLGRNTYKE QYAFLYKEKL VSVKRSYHYH 

       130        140        150        160        170        180 
DYQDGDADVF SREPFVVWFQ SPHTAVKDFV IIPLHTTPET SVKEIDELVE VYTDVKHRWK 

       190        200        210        220        230        240 
AENFIFMGDF NAGCSYVPKK AWKNIRLRTD PRFVWLIGDQ EDTTVKKSTN CAYDRIVLRG 

       250        260        270        280        290        300 
QEIVSSVVPK SNSVFDFQKA YKLTEEEALD VSDHFPVEFK LQSSRAFTNS KKSVTLRKKT 


KSKRS 

« Hide

Isoform 2 [UniParc].

Checksum: 98690E78ED2EC18C
Show »

FASTA27531,860

References

« Hide 'large scale' references
[1]"Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I."
Rodriguez A.M., Rodin D., Nomura H., Morton C.C., Weremowicz S., Schneider M.C.
Genomics 42:507-513(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Cloning and characterization of a novel human DNase."
Zeng Z., Parmelee D., Hyaw H., Coleman T.A., Su K., Zhang J., Gentz R., Ruben S., Rosen C., Li Y.
Biochem. Biophys. Res. Commun. 231:499-504(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Cloning and characterization of an actin-resistant DNase I-like endonuclease secreted by macrophages."
Baron W.F., Pan C.Q., Spencer S.A., Ryan A.M., Lazarus R.A., Baker K.P.
Gene 215:291-301(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"cDNA cloning of human DNase gamma: chromosomal localization of its gene and enzymatic properties of recombinant protein."
Shiokawa D., Hirai M., Tanuma S.
Apoptosis 3:89-95(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LYS-96.
Tissue: Spleen.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Spleen.
[6]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Liver.
[9]"Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus."
Al-Mayouf S.M., Sunker A., Abdwani R., Abrawi S.A., Almurshedi F., Alhashmi N., Al Sonbul A., Sewairi W., Qari A., Abdallah E., Al-Owain M., Al Motywee S., Al-Rayes H., Hashem M., Khalak H., Al-Jebali L., Alkuraya F.S.
Nat. Genet. 43:1186-1188(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SLEB16, VARIANT CYS-206.
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-19; ARG-82 AND SER-117.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U56814 mRNA. Translation: AAB63967.1.
AF047354 mRNA. Translation: AAC35752.1.
U75744 mRNA. Translation: AAC23652.1.
AK301263 mRNA. Translation: BAH13443.1.
AK313303 mRNA. Translation: BAG36108.1.
AC137936 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW65358.1.
BC015831 mRNA. Translation: AAH15831.1.
PIRJC5361.
RefSeqNP_001243489.1. NM_001256560.1.
NP_004935.1. NM_004944.3.
UniGeneHs.476453.

3D structure databases

ProteinModelPortalQ13609.
SMRQ13609. Positions 21-281.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4723961.
STRING9606.ENSP00000316193.

Chemistry

BindingDBQ13609.
ChEMBLCHEMBL1649048.

PTM databases

PhosphoSiteQ13609.

Polymorphism databases

DMDM2494173.

Proteomic databases

PaxDbQ13609.
PRIDEQ13609.

Protocols and materials databases

DNASU1776.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318316; ENSP00000316193; ENSG00000163687. [Q13609-1]
ENST00000394549; ENSP00000378053; ENSG00000163687. [Q13609-1]
ENST00000486455; ENSP00000419052; ENSG00000163687. [Q13609-2]
GeneID1776.
KEGGhsa:1776.
UCSCuc003djo.2. human. [Q13609-1]

Organism-specific databases

CTD1776.
GeneCardsGC03M058153.
HGNCHGNC:2959. DNASE1L3.
HPAHPA019955.
MIM602244. gene.
614420. phenotype.
neXtProtNX_Q13609.
Orphanet300345. Autosomal recessive systemic lupus erythematosus.
36412. Hypocomplementemic urticarial vasculitis.
PharmGKBPA27430.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG46375.
HOGENOMHOG000059570.
HOVERGENHBG051368.
InParanoidQ13609.
KOK11995.
OMAAENFIFM.
OrthoDBEOG73V6KW.
PhylomeDBQ13609.
TreeFamTF329541.

Gene expression databases

ArrayExpressQ13609.
BgeeQ13609.
CleanExHS_DNASE1L3.
GenevestigatorQ13609.

Family and domain databases

Gene3D3.60.10.10. 1 hit.
InterProIPR018057. Deoxyribonuclease-1_AS.
IPR016202. DNase_I.
IPR005135. Endo/exonuclease/phosphatase.
[Graphical view]
PANTHERPTHR11371. PTHR11371. 1 hit.
PfamPF03372. Exo_endo_phos. 1 hit.
[Graphical view]
PIRSFPIRSF000988. DNase_I_euk. 1 hit.
PRINTSPR00130. DNASEI.
SMARTSM00476. DNaseIc. 1 hit.
[Graphical view]
SUPFAMSSF56219. SSF56219. 1 hit.
PROSITEPS00919. DNASE_I_1. 1 hit.
PS00918. DNASE_I_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDNASE1L3.
GenomeRNAi1776.
NextBio7231.
PROQ13609.
SOURCESearch...

Entry information

Entry nameDNSL3_HUMAN
AccessionPrimary (citable) accession number: Q13609
Secondary accession number(s): B2R8B1, B7Z707, O75803
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: April 16, 2014
This is version 136 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM