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Protein

Deoxyribonuclease-1-like 1

Gene

DNASE1L1

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

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei97 – 971By similarity
Active sitei148 – 1481By similarity

GO - Molecular functioni

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

GO - Biological processi

  1. DNA catabolic process, endonucleolytic Source: GO_Central
  2. DNA metabolic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Names & Taxonomyi

Protein namesi
Recommended name:
Deoxyribonuclease-1-like 1 (EC:3.1.21.-)
Alternative name(s):
DNase X
Deoxyribonuclease I-like 1
Short name:
DNase I-like 1
Muscle-specific DNase I-like
XIB
Gene namesi
Name:DNASE1L1
Synonyms:DNAS1L1, DNL1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2957. DNASE1L1.

Subcellular locationi

Endoplasmic reticulum 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: LIFEdb
  2. extracellular vesicular exosome Source: UniProtKB
  3. nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27428.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 302284Deoxyribonuclease-1-like 1PRO_0000007284Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi187 ↔ 224Essential for enzymatic activityBy similarity
Glycosylationi261 – 2611N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP49184.
PaxDbiP49184.
PRIDEiP49184.

Expressioni

Tissue specificityi

Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain.1 Publication

Gene expression databases

BgeeiP49184.
CleanExiHS_DNASE1L1.
ExpressionAtlasiP49184. baseline and differential.
GenevestigatoriP49184.

Interactioni

Protein-protein interaction databases

BioGridi108113. 4 interactions.
MINTiMINT-4722206.
STRINGi9606.ENSP00000014935.

Structurei

3D structure databases

ProteinModelPortaliP49184.
SMRiP49184. Positions 19-272.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNase I family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG39448.
GeneTreeiENSGT00390000013146.
HOGENOMiHOG000059570.
HOVERGENiHBG051368.
InParanoidiP49184.
KOiK11995.
OMAiVRILARC.
PhylomeDBiP49184.
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]

Sequencei

Sequence statusi: Complete.

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

P49184-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHYPTALLFL ILANGAQAFR ICAFNAQRLT LAKVAREQVM DTLVRILARC
60 70 80 90 100
DIMVLQEVVD SSGSAIPLLL RELNRFDGSG PYSTLSSPQL GRSTYMETYV
110 120 130 140 150
YFYRSHKTQV LSSYVYNDED DVFAREPFVA QFSLPSNVLP SLVLVPLHTT
160 170 180 190 200
PKAVEKELNA LYDVFLEVSQ HWQSKDVILL GDFNADCASL TKKRLDKLEL
210 220 230 240 250
RTEPGFHWVI ADGEDTTVRA STHCTYDRVV LHGERCRSLL HTAAAFDFPT
260 270 280 290 300
SFQLTEEEAL NISDHYPVEV ELKLSQAHSV QPLSLTVLLL LSLLSPQLCP

AA
Length:302
Mass (Da):33,893
Last modified:February 1, 1996 - v1
Checksum:iD10CE8B470173727
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti73 – 731L → I in AAB00496 (PubMed:8541839).Curated
Sequence conflicti78 – 781G → D in AAB00496 (PubMed:8541839).Curated
Sequence conflicti205 – 2051G → S in AAB00496 (PubMed:8541839).Curated
Sequence conflicti227 – 2271D → A in AAB00495 (PubMed:8541839).Curated
Sequence conflicti227 – 2271D → A in AAA92647 (PubMed:8733135).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti122 – 1221V → I.
Corresponds to variant rs34952165 [ dbSNP | Ensembl ].
VAR_048869

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X90392 mRNA. Translation: CAA62037.1.
L40817 Genomic DNA. Translation: AAB00495.1.
L40823 mRNA. Translation: AAB00496.1.
L44140 Genomic DNA. Translation: AAA92647.1.
U06846 mRNA. Translation: AAB17022.1.
BX936347 Genomic DNA. Translation: CAI43204.1.
CH471172 Genomic DNA. Translation: EAW72731.1.
CH471172 Genomic DNA. Translation: EAW72732.1.
CH471172 Genomic DNA. Translation: EAW72733.1.
CH471172 Genomic DNA. Translation: EAW72734.1.
CH471172 Genomic DNA. Translation: EAW72735.1.
BC001561 mRNA. Translation: AAH01561.1.
BC028092 mRNA. Translation: AAH28092.1.
CCDSiCCDS14747.1.
PIRiJC4633.
RefSeqiNP_001009932.1. NM_001009932.2.
NP_001009933.1. NM_001009933.2.
NP_001009934.1. NM_001009934.2.
NP_006721.1. NM_006730.3.
XP_005277886.1. XM_005277829.2.
UniGeneiHs.401929.
Hs.534404.

Genome annotation databases

EnsembliENST00000014935; ENSP00000014935; ENSG00000013563.
ENST00000309585; ENSP00000309168; ENSG00000013563.
ENST00000369807; ENSP00000358822; ENSG00000013563.
ENST00000369808; ENSP00000358823; ENSG00000013563.
ENST00000369809; ENSP00000358824; ENSG00000013563.
ENST00000393638; ENSP00000377255; ENSG00000013563.
GeneIDi1774.
KEGGihsa:1774.
UCSCiuc004fks.1. human.

Polymorphism databases

DMDMi1352319.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X90392 mRNA. Translation: CAA62037.1.
L40817 Genomic DNA. Translation: AAB00495.1.
L40823 mRNA. Translation: AAB00496.1.
L44140 Genomic DNA. Translation: AAA92647.1.
U06846 mRNA. Translation: AAB17022.1.
BX936347 Genomic DNA. Translation: CAI43204.1.
CH471172 Genomic DNA. Translation: EAW72731.1.
CH471172 Genomic DNA. Translation: EAW72732.1.
CH471172 Genomic DNA. Translation: EAW72733.1.
CH471172 Genomic DNA. Translation: EAW72734.1.
CH471172 Genomic DNA. Translation: EAW72735.1.
BC001561 mRNA. Translation: AAH01561.1.
BC028092 mRNA. Translation: AAH28092.1.
CCDSiCCDS14747.1.
PIRiJC4633.
RefSeqiNP_001009932.1. NM_001009932.2.
NP_001009933.1. NM_001009933.2.
NP_001009934.1. NM_001009934.2.
NP_006721.1. NM_006730.3.
XP_005277886.1. XM_005277829.2.
UniGeneiHs.401929.
Hs.534404.

3D structure databases

ProteinModelPortaliP49184.
SMRiP49184. Positions 19-272.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108113. 4 interactions.
MINTiMINT-4722206.
STRINGi9606.ENSP00000014935.

Polymorphism databases

DMDMi1352319.

Proteomic databases

MaxQBiP49184.
PaxDbiP49184.
PRIDEiP49184.

Protocols and materials databases

DNASUi1774.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000014935; ENSP00000014935; ENSG00000013563.
ENST00000309585; ENSP00000309168; ENSG00000013563.
ENST00000369807; ENSP00000358822; ENSG00000013563.
ENST00000369808; ENSP00000358823; ENSG00000013563.
ENST00000369809; ENSP00000358824; ENSG00000013563.
ENST00000393638; ENSP00000377255; ENSG00000013563.
GeneIDi1774.
KEGGihsa:1774.
UCSCiuc004fks.1. human.

Organism-specific databases

CTDi1774.
GeneCardsiGC0XM153629.
HGNCiHGNC:2957. DNASE1L1.
MIMi300081. gene.
neXtProtiNX_P49184.
PharmGKBiPA27428.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39448.
GeneTreeiENSGT00390000013146.
HOGENOMiHOG000059570.
HOVERGENiHBG051368.
InParanoidiP49184.
KOiK11995.
OMAiVRILARC.
PhylomeDBiP49184.
TreeFamiTF329541.

Miscellaneous databases

GeneWikiiDNASE1L1.
GenomeRNAii1774.
NextBioi7217.
PROiP49184.
SOURCEiSearch...

Gene expression databases

BgeeiP49184.
CleanExiHS_DNASE1L1.
ExpressionAtlasiP49184. baseline and differential.
GenevestigatoriP49184.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation, differential splicing and protein expression of a DNase on the human X chromosome."
    Coy J.F., Velhagen I., Himmele R., Delius H., Poustka A., Zentgraf H.
    Cell Death Differ. 3:199-206(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY.
    Tissue: Heart.
  3. "Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci."
    Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N., Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D., D'Urso M.
    Hum. Mol. Genet. 5:659-668(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region."
    Pergolizzi R., Appierto V., Bosetti A., Debellis G.L., Rovida E., Biunno I.
    Gene 168:267-270(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Muscle.
  5. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Blood and Cervix.
  8. "Physical and biochemical properties of mammalian DNase X proteins: non-AUG translation initiation of porcine and bovine mRNAs for DNase X."
    Shiokawa D., Shika Y., Saito K., Yamazaki K., Tanuma S.
    Biochem. J. 392:511-517(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-261.

Entry informationi

Entry nameiDNSL1_HUMAN
AccessioniPrimary (citable) accession number: P49184
Secondary accession number(s): D3DWW7, Q5HY41
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: March 4, 2015
This is version 137 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 X
    Human chromosome X: 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

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 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.