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P49184 (DNSL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DNASE1L1
Synonyms:DNAS1L1, DNL1L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length302 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Endoplasmic reticulum Ref.8.

Tissue specificity

Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain. Ref.2

Sequence similarities

Belongs to the DNase I family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 302284Deoxyribonuclease-1-like 1
PRO_0000007284

Sites

Active site971 By similarity
Active site1481 By similarity

Amino acid modifications

Glycosylation2611N-linked (GlcNAc...) Ref.8
Disulfide bond187 ↔ 224Essential for enzymatic activity By similarity

Natural variations

Natural variant1221V → I.
Corresponds to variant rs34952165 [ dbSNP | Ensembl ].
VAR_048869

Experimental info

Sequence conflict731L → I in AAB00496. Ref.2
Sequence conflict781G → D in AAB00496. Ref.2
Sequence conflict2051G → S in AAB00496. Ref.2
Sequence conflict2271D → A in AAB00495. Ref.2
Sequence conflict2271D → A in AAA92647. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P49184 [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: D10CE8B470173727

FASTA30233,893
        10         20         30         40         50         60 
MHYPTALLFL ILANGAQAFR ICAFNAQRLT LAKVAREQVM DTLVRILARC DIMVLQEVVD 

        70         80         90        100        110        120 
SSGSAIPLLL RELNRFDGSG PYSTLSSPQL GRSTYMETYV YFYRSHKTQV LSSYVYNDED 

       130        140        150        160        170        180 
DVFAREPFVA QFSLPSNVLP SLVLVPLHTT PKAVEKELNA LYDVFLEVSQ HWQSKDVILL 

       190        200        210        220        230        240 
GDFNADCASL TKKRLDKLEL RTEPGFHWVI ADGEDTTVRA STHCTYDRVV LHGERCRSLL 

       250        260        270        280        290        300 
HTAAAFDFPT SFQLTEEEAL NISDHYPVEV ELKLSQAHSV QPLSLTVLLL LSLLSPQLCP 


AA 

« Hide

References

« Hide 'large scale' references
[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(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"A muscle-specific DNase I-like gene in human Xq28."
Parrish J.E., Ciccodicola A., Wehnert M., Cox G.F., Chen E., Nelson D.L.
Hum. Mol. Genet. 4:1557-1564(1995) [PubMed] [Europe PMC] [Abstract]
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(1996) [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(1996) [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. expand/collapse author list , 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(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
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(2004) [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(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-261.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRJC4633.
RefSeqNP_001009932.1. NM_001009932.1.
NP_001009933.1. NM_001009933.1.
NP_001009934.1. NM_001009934.1.
NP_006721.1. NM_006730.2.
XP_005277886.1. XM_005277829.2.
UniGeneHs.401929.
Hs.534404.

3D structure databases

ProteinModelPortalP49184.
SMRP49184. Positions 19-272.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4722206.
STRING9606.ENSP00000014935.

Polymorphism databases

DMDM1352319.

Proteomic databases

PaxDbP49184.
PRIDEP49184.

Protocols and materials databases

DNASU1774.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000014935; ENSP00000014935; ENSG00000013563.
ENST00000309585; ENSP00000309168; ENSG00000013563.
ENST00000369807; ENSP00000358822; ENSG00000013563.
ENST00000369808; ENSP00000358823; ENSG00000013563.
ENST00000369809; ENSP00000358824; ENSG00000013563.
ENST00000393638; ENSP00000377255; ENSG00000013563.
ENST00000595836; ENSP00000473041; ENSG00000267993.
ENST00000596762; ENSP00000471031; ENSG00000267993.
ENST00000597132; ENSP00000470406; ENSG00000267993.
ENST00000598223; ENSP00000471305; ENSG00000267993.
ENST00000598641; ENSP00000472669; ENSG00000267993.
ENST00000601862; ENSP00000471171; ENSG00000267993.
GeneID1774.
KEGGhsa:1774.
UCSCuc004fks.1. human.

Organism-specific databases

CTD1774.
GeneCardsGC0XM153629.
HGNCHGNC:2957. DNASE1L1.
MIM300081. gene.
neXtProtNX_P49184.
PharmGKBPA27428.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39448.
HOGENOMHOG000059570.
HOVERGENHBG051368.
InParanoidP49184.
KOK11995.
OMAVRILARC.
PhylomeDBP49184.
TreeFamTF329541.

Gene expression databases

ArrayExpressP49184.
BgeeP49184.
CleanExHS_DNASE1L1.
GenevestigatorP49184.

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

GeneWikiDNASE1L1.
GenomeRNAi1774.
NextBio7217.
PROP49184.
SOURCESearch...

Entry information

Entry nameDNSL1_HUMAN
AccessionPrimary (citable) accession number: P49184
Secondary accession number(s): D3DWW7, Q5HY41
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: April 16, 2014
This is version 129 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 X

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