P49184 (DNSL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	DNASE1L1
Synonyms:	DNAS1L1, DNL1L

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	302 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Endonuclease Hydrolase Nuclease
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA catabolic process Inferred from electronic annotation. Source: InterPro DNA metabolic process Traceable author statement PubMed 9205125. Source: ProtInc
Cellular_component	endoplasmic reticulum Inferred from direct assay. Source: LIFEdb
Molecular_function	DNA binding Traceable author statement PubMed 9205125. Source: ProtInc deoxyribonuclease activity Traceable author statement PubMed 9205125. Source: ProtInc endodeoxyribonuclease activity, producing 5'-phosphomonoesters Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 18	18	Potential
	Chain	19 – 302	284	Deoxyribonuclease-1-like 1		PRO_0000007284
Sites
	Active site	97	1	By similarity
	Active site	148	1	By similarity
Amino acid modifications
	Glycosylation	261	1	N-linked (GlcNAc...) Ref.8
	Disulfide bond	187 ↔ 224		Essential for enzymatic activity By similarity
Natural variations
	Natural variant	122	1	V → I. Corresponds to variant rs34952165 [ dbSNP | Ensembl ].		VAR_048869
Experimental info
	Sequence conflict	73	1	L → I in AAB00496. Ref.2
	Sequence conflict	78	1	G → D in AAB00496. Ref.2
	Sequence conflict	205	1	G → S in AAB00496. Ref.2
	Sequence conflict	227	1	D → A in AAB00495. Ref.2
	Sequence conflict	227	1	D → A in AAA92647. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P49184 [UniParc]. Last modified February 1, 1996. Version 1. Checksum: D10CE8B470173727	FASTA	302	33,893
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00026125.
PIR	JC4633.
RefSeq	NP_001009932.1. NM_001009932.1. NP_001009933.1. NM_001009933.1. NP_001009934.1. NM_001009934.1. NP_006721.1. NM_006730.2.
UniGene	Hs.401929. Hs.534404.
3D structure databases
ProteinModelPortal	P49184.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000014935.
Polymorphism databases
DMDM	1352319.
Proteomic databases
PaxDb	P49184.
PRIDE	P49184.
Protocols and materials databases
DNASU	1774.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000014935; 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.
GeneID	1774.
KEGG	hsa:1774.
UCSC	uc004fks.1. human.
Organism-specific databases
CTD	1774.
GeneCards	GC0XM153629.
HGNC	HGNC:2957. DNASE1L1.
MIM	300081. gene.
neXtProt	NX_P49184.
PharmGKB	PA27428.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39448.
HOGENOM	HOG000059570.
HOVERGEN	HBG051368.
InParanoid	P49184.
KO	K11995.
OMA	RILARCD.
OrthoDB	EOG41VK3G.
PhylomeDB	P49184.
Gene expression databases
ArrayExpress	P49184.
Bgee	P49184.
CleanEx	HS_DNASE1L1.
Genevestigator	P49184.
GermOnline	ENSG00000013563. Homo sapiens.
Family and domain databases
InterPro	IPR018057. Deoxyribonuclease-1_AS. IPR016202. DNase_I-like. IPR008185. DNase_I_euk. IPR005135. Endo/exonuclease/phosphatase. [Graphical view]
PANTHER	PTHR11371. PTHR11371. 1 hit.
Pfam	PF03372. Exo_endo_phos. 1 hit. [Graphical view]
PIRSF	PIRSF000988. DNase_I_euk. 1 hit.
PRINTS	PR00130. DNASEI.
SMART	SM00476. DNaseIc. 1 hit. [Graphical view]
SUPFAM	SSF56219. Exo_endo_phos. 1 hit.
PROSITE	PS00919. DNASE_I_1. 1 hit. PS00918. DNASE_I_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1774.
NextBio	7217.
SOURCE	Search...

Entry information

Entry name

DNSL1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 122 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.