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Q13609

- DNSL3_HUMAN

UniProt

Q13609 - DNSL3_HUMAN

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Protein

Deoxyribonuclease gamma

Gene

DNASE1L3

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

Functioni

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

Cofactori

Calcium.
Magnesium.

Enzyme regulationi

Inhibited by zinc.

pH dependencei

Optimum pH is about 7.2.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei100 – 1001By similarity
Active sitei155 – 1551By similarity

GO - Molecular functioni

  1. calcium ion binding Source: ProtInc
  2. deoxyribonuclease activity Source: ProtInc
  3. DNA binding Source: ProtInc
  4. endodeoxyribonuclease activity, producing 5'-phosphomonoesters Source: InterPro

GO - Biological processi

  1. apoptotic DNA fragmentation Source: Ensembl
  2. developmental programmed cell death Source: Ensembl
  3. DNA metabolic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Deoxyribonuclease gamma (EC:3.1.21.-)
Short name:
DNase gamma
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 namesi
Name:DNASE1L3
Synonyms:DHP2, DNAS1L3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:2959. DNASE1L3.

Subcellular locationi

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

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Systemic lupus erythematosus

Organism-specific databases

MIMi614420. phenotype.
Orphaneti300345. Autosomal recessive systemic lupus erythematosus.
36412. Hypocomplementemic urticarial vasculitis.
PharmGKBiPA27430.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020By similarityAdd
BLAST
Chaini21 – 305285Deoxyribonuclease gammaPRO_0000007288Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi194 ↔ 231Essential for enzymatic activityBy similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ13609.
PRIDEiQ13609.

PTM databases

PhosphoSiteiQ13609.

Expressioni

Tissue specificityi

Liver and spleen.

Gene expression databases

BgeeiQ13609.
CleanExiHS_DNASE1L3.
ExpressionAtlasiQ13609. baseline and differential.
GenevestigatoriQ13609.

Organism-specific databases

HPAiHPA019955.

Interactioni

Protein-protein interaction databases

MINTiMINT-4723961.
STRINGi9606.ENSP00000316193.

Structurei

3D structure databases

ProteinModelPortaliQ13609.
SMRiQ13609. Positions 21-281.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi35 – 5117Bipartite nuclear localization signalSequence AnalysisAdd
BLAST
Motifi296 – 3049Nuclear localization signalSequence Analysis

Sequence similaritiesi

Belongs to the DNase I family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG46375.
GeneTreeiENSGT00390000013146.
HOGENOMiHOG000059570.
HOVERGENiHBG051368.
InParanoidiQ13609.
KOiK11995.
OMAiAENFIFM.
OrthoDBiEOG73V6KW.
PhylomeDBiQ13609.
TreeFamiTF329541.

Family and domain databases

Gene3Di3.60.10.10. 1 hit.
InterProiIPR018057. Deoxyribonuclease-1_AS.
IPR016202. DNase_I.
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. Align

Isoform 1 (identifier: Q13609-1) [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
MSRELAPLLL LLLSIHSALA MRICSFNVRS FGESKQEDKN AMDVIVKVIK
60 70 80 90 100
RCDIILVMEI KDSNNRICPI LMEKLNRNSR RGITYNYVIS SRLGRNTYKE
110 120 130 140 150
QYAFLYKEKL VSVKRSYHYH DYQDGDADVF SREPFVVWFQ SPHTAVKDFV
160 170 180 190 200
IIPLHTTPET SVKEIDELVE VYTDVKHRWK AENFIFMGDF NAGCSYVPKK
210 220 230 240 250
AWKNIRLRTD PRFVWLIGDQ EDTTVKKSTN CAYDRIVLRG QEIVSSVVPK
260 270 280 290 300
SNSVFDFQKA YKLTEEEALD VSDHFPVEFK LQSSRAFTNS KKSVTLRKKT

KSKRS
Length:305
Mass (Da):35,504
Last modified:November 1, 1997 - v1
Checksum:iBAB9F1A0341E6048
GO
Isoform 2 (identifier: Q13609-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     78-107: Missing.

Note: Gene prediction based on EST data.

Show »
Length:275
Mass (Da):31,860
Checksum:i98690E78ED2EC18C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191L → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_036079
Natural varianti82 – 821G → R in a breast cancer sample; somatic mutation. 1 Publication
VAR_036080
Natural varianti96 – 961N → K.1 Publication
Corresponds to variant rs12491947 [ dbSNP | Ensembl ].
VAR_059249
Natural varianti117 – 1171Y → S in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036081
Natural varianti206 – 2061R → C.1 Publication
Corresponds to variant rs35677470 [ dbSNP | Ensembl ].
VAR_061137

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei78 – 10730Missing in isoform 2. 1 PublicationVSP_047251Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2886.1. [Q13609-1]
CCDS58836.1. [Q13609-2]
PIRiJC5361.
RefSeqiNP_001243489.1. NM_001256560.1. [Q13609-2]
NP_004935.1. NM_004944.3. [Q13609-1]
UniGeneiHs.476453.

Genome annotation databases

EnsembliENST00000394549; ENSP00000378053; ENSG00000163687. [Q13609-1]
ENST00000486455; ENSP00000419052; ENSG00000163687. [Q13609-2]
GeneIDi1776.
KEGGihsa:1776.
UCSCiuc003djo.2. human. [Q13609-1]

Polymorphism databases

DMDMi2494173.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2886.1. [Q13609-1 ]
CCDS58836.1. [Q13609-2 ]
PIRi JC5361.
RefSeqi NP_001243489.1. NM_001256560.1. [Q13609-2 ]
NP_004935.1. NM_004944.3. [Q13609-1 ]
UniGenei Hs.476453.

3D structure databases

ProteinModelPortali Q13609.
SMRi Q13609. Positions 21-281.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

MINTi MINT-4723961.
STRINGi 9606.ENSP00000316193.

Chemistry

BindingDBi Q13609.
ChEMBLi CHEMBL1649048.

PTM databases

PhosphoSitei Q13609.

Polymorphism databases

DMDMi 2494173.

Proteomic databases

PaxDbi Q13609.
PRIDEi Q13609.

Protocols and materials databases

DNASUi 1776.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000394549 ; ENSP00000378053 ; ENSG00000163687 . [Q13609-1 ]
ENST00000486455 ; ENSP00000419052 ; ENSG00000163687 . [Q13609-2 ]
GeneIDi 1776.
KEGGi hsa:1776.
UCSCi uc003djo.2. human. [Q13609-1 ]

Organism-specific databases

CTDi 1776.
GeneCardsi GC03M058153.
HGNCi HGNC:2959. DNASE1L3.
HPAi HPA019955.
MIMi 602244. gene.
614420. phenotype.
neXtProti NX_Q13609.
Orphaneti 300345. Autosomal recessive systemic lupus erythematosus.
36412. Hypocomplementemic urticarial vasculitis.
PharmGKBi PA27430.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG46375.
GeneTreei ENSGT00390000013146.
HOGENOMi HOG000059570.
HOVERGENi HBG051368.
InParanoidi Q13609.
KOi K11995.
OMAi AENFIFM.
OrthoDBi EOG73V6KW.
PhylomeDBi Q13609.
TreeFami TF329541.

Miscellaneous databases

GeneWikii DNASE1L3.
GenomeRNAii 1776.
NextBioi 7231.
PROi Q13609.
SOURCEi Search...

Gene expression databases

Bgeei Q13609.
CleanExi HS_DNASE1L3.
ExpressionAtlasi Q13609. baseline and differential.
Genevestigatori Q13609.

Family and domain databases

Gene3Di 3.60.10.10. 1 hit.
InterProi IPR018057. Deoxyribonuclease-1_AS.
IPR016202. DNase_I.
IPR005135. Endo/exonuclease/phosphatase.
[Graphical view ]
PANTHERi PTHR11371. PTHR11371. 1 hit.
Pfami PF03372. Exo_endo_phos. 1 hit.
[Graphical view ]
PIRSFi PIRSF000988. DNase_I_euk. 1 hit.
PRINTSi PR00130. DNASEI.
SMARTi SM00476. DNaseIc. 1 hit.
[Graphical view ]
SUPFAMi SSF56219. SSF56219. 1 hit.
PROSITEi PS00919. DNASE_I_1. 1 hit.
PS00918. DNASE_I_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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.
    , 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. 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. Cited for: INVOLVEMENT IN SLEB16, VARIANT CYS-206.
  10. Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-19; ARG-82 AND SER-117.

Entry informationi

Entry nameiDNSL3_HUMAN
AccessioniPrimary (citable) accession number: Q13609
Secondary accession number(s): B2R8B1, B7Z707, O75803
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: October 29, 2014
This is version 140 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3