Full text data of DNASE1L1
DNASE1L1
(DNAS1L1, DNL1L)
[Confidence: low (only semi-automatic identification from reviews)]
Deoxyribonuclease-1-like 1; 3.1.21.- (DNase X; Deoxyribonuclease I-like 1; DNase I-like 1; Muscle-specific DNase I-like; XIB; Flags: Precursor)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Deoxyribonuclease-1-like 1; 3.1.21.- (DNase X; Deoxyribonuclease I-like 1; DNase I-like 1; Muscle-specific DNase I-like; XIB; Flags: Precursor)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P49184
ID DNSL1_HUMAN Reviewed; 302 AA.
AC P49184; D3DWW7; Q5HY41;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-FEB-1996, sequence version 1.
DT 22-JAN-2014, entry version 127.
DE RecName: Full=Deoxyribonuclease-1-like 1;
DE EC=3.1.21.-;
DE AltName: Full=DNase X;
DE AltName: Full=Deoxyribonuclease I-like 1;
DE Short=DNase I-like 1;
DE AltName: Full=Muscle-specific DNase I-like;
DE AltName: Full=XIB;
DE Flags: Precursor;
GN Name=DNASE1L1; Synonyms=DNAS1L1, DNL1L;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=17180083;
RA Coy J.F., Velhagen I., Himmele R., Delius H., Poustka A., Zentgraf H.;
RT "Isolation, differential splicing and protein expression of a DNase on
RT the human X chromosome.";
RL Cell Death Differ. 3:199-206(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Heart;
RX PubMed=8541839; DOI=10.1093/hmg/4.9.1557;
RA Parrish J.E., Ciccodicola A., Wehnert M., Cox G.F., Chen E.,
RA Nelson D.L.;
RT "A muscle-specific DNase I-like gene in human Xq28.";
RL Hum. Mol. Genet. 4:1557-1564(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8733135; DOI=10.1093/hmg/5.5.659;
RA Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N.,
RA Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D.,
RA D'Urso M.;
RT "Long-range sequence analysis in Xq28: thirteen known and six
RT candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
RT G6PD loci.";
RL Hum. Mol. Genet. 5:659-668(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Muscle;
RX PubMed=8654957; DOI=10.1016/0378-1119(95)00741-5;
RA Pergolizzi R., Appierto V., Bosetti A., Debellis G.L., Rovida E.,
RA Biunno I.;
RT "Cloning of a gene encoding a DNase I-like endonuclease in the human
RT Xq28 region.";
RL Gene 168:267-270(1996).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Blood, and Cervix;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP SUBCELLULAR LOCATION, AND GLYCOSYLATION AT ASN-261.
RX PubMed=16107205; DOI=10.1042/BJ20051114;
RA Shiokawa D., Shika Y., Saito K., Yamazaki K., Tanuma S.;
RT "Physical and biochemical properties of mammalian DNase X proteins:
RT non-AUG translation initiation of porcine and bovine mRNAs for DNase
RT X.";
RL Biochem. J. 392:511-517(2005).
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum.
CC -!- TISSUE SPECIFICITY: Highest levels in skeletal and cardiac
CC muscles. Detectable in all other tissues tested except brain.
CC -!- SIMILARITY: Belongs to the DNase I family.
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DR EMBL; X90392; CAA62037.1; -; mRNA.
DR EMBL; L40817; AAB00495.1; -; Genomic_DNA.
DR EMBL; L40823; AAB00496.1; -; mRNA.
DR EMBL; L44140; AAA92647.1; -; Genomic_DNA.
DR EMBL; U06846; AAB17022.1; -; mRNA.
DR EMBL; BX936347; CAI43204.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72731.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72732.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72733.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72734.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72735.1; -; Genomic_DNA.
DR EMBL; BC001561; AAH01561.1; -; mRNA.
DR EMBL; BC028092; AAH28092.1; -; mRNA.
DR PIR; JC4633; JC4633.
DR RefSeq; NP_001009932.1; NM_001009932.1.
DR RefSeq; NP_001009933.1; NM_001009933.1.
DR RefSeq; NP_001009934.1; NM_001009934.1.
DR RefSeq; NP_006721.1; NM_006730.2.
DR RefSeq; XP_005274710.1; XM_005274653.1.
DR RefSeq; XP_005274711.1; XM_005274654.1.
DR RefSeq; XP_005277886.1; XM_005277829.1.
DR RefSeq; XP_005277887.1; XM_005277830.1.
DR UniGene; Hs.401929; -.
DR UniGene; Hs.534404; -.
DR ProteinModelPortal; P49184; -.
DR SMR; P49184; 19-272.
DR MINT; MINT-4722206; -.
DR STRING; 9606.ENSP00000014935; -.
DR DMDM; 1352319; -.
DR PaxDb; P49184; -.
DR PRIDE; P49184; -.
DR DNASU; 1774; -.
DR Ensembl; ENST00000014935; ENSP00000014935; ENSG00000013563.
DR Ensembl; ENST00000309585; ENSP00000309168; ENSG00000013563.
DR Ensembl; ENST00000369807; ENSP00000358822; ENSG00000013563.
DR Ensembl; ENST00000369808; ENSP00000358823; ENSG00000013563.
DR Ensembl; ENST00000369809; ENSP00000358824; ENSG00000013563.
DR Ensembl; ENST00000393638; ENSP00000377255; ENSG00000013563.
DR Ensembl; ENST00000595836; ENSP00000473041; ENSG00000267993.
DR Ensembl; ENST00000596762; ENSP00000471031; ENSG00000267993.
DR Ensembl; ENST00000597132; ENSP00000470406; ENSG00000267993.
DR Ensembl; ENST00000598223; ENSP00000471305; ENSG00000267993.
DR Ensembl; ENST00000598641; ENSP00000472669; ENSG00000267993.
DR Ensembl; ENST00000601862; ENSP00000471171; ENSG00000267993.
DR GeneID; 1774; -.
DR KEGG; hsa:1774; -.
DR UCSC; uc004fks.1; human.
DR CTD; 1774; -.
DR GeneCards; GC0XM153629; -.
DR HGNC; HGNC:2957; DNASE1L1.
DR MIM; 300081; gene.
DR neXtProt; NX_P49184; -.
DR PharmGKB; PA27428; -.
DR eggNOG; NOG39448; -.
DR HOGENOM; HOG000059570; -.
DR HOVERGEN; HBG051368; -.
DR InParanoid; P49184; -.
DR KO; K11995; -.
DR OMA; VRILARC; -.
DR PhylomeDB; P49184; -.
DR GeneWiki; DNASE1L1; -.
DR GenomeRNAi; 1774; -.
DR NextBio; 7217; -.
DR PRO; PR:P49184; -.
DR ArrayExpress; P49184; -.
DR Bgee; P49184; -.
DR CleanEx; HS_DNASE1L1; -.
DR Genevestigator; P49184; -.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0004536; F:deoxyribonuclease activity; TAS:ProtInc.
DR GO; GO:0003677; F:DNA binding; TAS:ProtInc.
DR GO; GO:0016888; F:endodeoxyribonuclease activity, producing 5'-phosphomonoesters; IEA:InterPro.
DR GO; GO:0006308; P:DNA catabolic process; IEA:InterPro.
DR GO; GO:0006259; P:DNA metabolic process; TAS:ProtInc.
DR Gene3D; 3.60.10.10; -; 1.
DR InterPro; IPR018057; Deoxyribonuclease-1_AS.
DR InterPro; IPR016202; DNase_I.
DR InterPro; IPR005135; Endo/exonuclease/phosphatase.
DR PANTHER; PTHR11371; PTHR11371; 1.
DR Pfam; PF03372; Exo_endo_phos; 1.
DR PIRSF; PIRSF000988; DNase_I_euk; 1.
DR PRINTS; PR00130; DNASEI.
DR SMART; SM00476; DNaseIc; 1.
DR SUPFAM; SSF56219; SSF56219; 1.
DR PROSITE; PS00919; DNASE_I_1; 1.
DR PROSITE; PS00918; DNASE_I_2; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Disulfide bond; Endonuclease;
KW Endoplasmic reticulum; Glycoprotein; Hydrolase; Nuclease;
KW Polymorphism; Reference proteome; Signal.
FT SIGNAL 1 18 Potential.
FT CHAIN 19 302 Deoxyribonuclease-1-like 1.
FT /FTId=PRO_0000007284.
FT ACT_SITE 97 97 By similarity.
FT ACT_SITE 148 148 By similarity.
FT CARBOHYD 261 261 N-linked (GlcNAc...).
FT DISULFID 187 224 Essential for enzymatic activity (By
FT similarity).
FT VARIANT 122 122 V -> I (in dbSNP:rs34952165).
FT /FTId=VAR_048869.
FT CONFLICT 73 73 L -> I (in Ref. 2; AAB00496).
FT CONFLICT 78 78 G -> D (in Ref. 2; AAB00496).
FT CONFLICT 205 205 G -> S (in Ref. 2; AAB00496).
FT CONFLICT 227 227 D -> A (in Ref. 2; AAB00495 and 3;
FT AAA92647).
SQ SEQUENCE 302 AA; 33893 MW; D10CE8B470173727 CRC64;
MHYPTALLFL ILANGAQAFR ICAFNAQRLT LAKVAREQVM DTLVRILARC DIMVLQEVVD
SSGSAIPLLL RELNRFDGSG PYSTLSSPQL GRSTYMETYV YFYRSHKTQV LSSYVYNDED
DVFAREPFVA QFSLPSNVLP SLVLVPLHTT PKAVEKELNA LYDVFLEVSQ HWQSKDVILL
GDFNADCASL TKKRLDKLEL RTEPGFHWVI ADGEDTTVRA STHCTYDRVV LHGERCRSLL
HTAAAFDFPT SFQLTEEEAL NISDHYPVEV ELKLSQAHSV QPLSLTVLLL LSLLSPQLCP
AA
//
ID DNSL1_HUMAN Reviewed; 302 AA.
AC P49184; D3DWW7; Q5HY41;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-FEB-1996, sequence version 1.
DT 22-JAN-2014, entry version 127.
DE RecName: Full=Deoxyribonuclease-1-like 1;
DE EC=3.1.21.-;
DE AltName: Full=DNase X;
DE AltName: Full=Deoxyribonuclease I-like 1;
DE Short=DNase I-like 1;
DE AltName: Full=Muscle-specific DNase I-like;
DE AltName: Full=XIB;
DE Flags: Precursor;
GN Name=DNASE1L1; Synonyms=DNAS1L1, DNL1L;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=17180083;
RA Coy J.F., Velhagen I., Himmele R., Delius H., Poustka A., Zentgraf H.;
RT "Isolation, differential splicing and protein expression of a DNase on
RT the human X chromosome.";
RL Cell Death Differ. 3:199-206(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Heart;
RX PubMed=8541839; DOI=10.1093/hmg/4.9.1557;
RA Parrish J.E., Ciccodicola A., Wehnert M., Cox G.F., Chen E.,
RA Nelson D.L.;
RT "A muscle-specific DNase I-like gene in human Xq28.";
RL Hum. Mol. Genet. 4:1557-1564(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8733135; DOI=10.1093/hmg/5.5.659;
RA Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N.,
RA Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D.,
RA D'Urso M.;
RT "Long-range sequence analysis in Xq28: thirteen known and six
RT candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
RT G6PD loci.";
RL Hum. Mol. Genet. 5:659-668(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Muscle;
RX PubMed=8654957; DOI=10.1016/0378-1119(95)00741-5;
RA Pergolizzi R., Appierto V., Bosetti A., Debellis G.L., Rovida E.,
RA Biunno I.;
RT "Cloning of a gene encoding a DNase I-like endonuclease in the human
RT Xq28 region.";
RL Gene 168:267-270(1996).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Blood, and Cervix;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP SUBCELLULAR LOCATION, AND GLYCOSYLATION AT ASN-261.
RX PubMed=16107205; DOI=10.1042/BJ20051114;
RA Shiokawa D., Shika Y., Saito K., Yamazaki K., Tanuma S.;
RT "Physical and biochemical properties of mammalian DNase X proteins:
RT non-AUG translation initiation of porcine and bovine mRNAs for DNase
RT X.";
RL Biochem. J. 392:511-517(2005).
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum.
CC -!- TISSUE SPECIFICITY: Highest levels in skeletal and cardiac
CC muscles. Detectable in all other tissues tested except brain.
CC -!- SIMILARITY: Belongs to the DNase I family.
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DR EMBL; X90392; CAA62037.1; -; mRNA.
DR EMBL; L40817; AAB00495.1; -; Genomic_DNA.
DR EMBL; L40823; AAB00496.1; -; mRNA.
DR EMBL; L44140; AAA92647.1; -; Genomic_DNA.
DR EMBL; U06846; AAB17022.1; -; mRNA.
DR EMBL; BX936347; CAI43204.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72731.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72732.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72733.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72734.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72735.1; -; Genomic_DNA.
DR EMBL; BC001561; AAH01561.1; -; mRNA.
DR EMBL; BC028092; AAH28092.1; -; mRNA.
DR PIR; JC4633; JC4633.
DR RefSeq; NP_001009932.1; NM_001009932.1.
DR RefSeq; NP_001009933.1; NM_001009933.1.
DR RefSeq; NP_001009934.1; NM_001009934.1.
DR RefSeq; NP_006721.1; NM_006730.2.
DR RefSeq; XP_005274710.1; XM_005274653.1.
DR RefSeq; XP_005274711.1; XM_005274654.1.
DR RefSeq; XP_005277886.1; XM_005277829.1.
DR RefSeq; XP_005277887.1; XM_005277830.1.
DR UniGene; Hs.401929; -.
DR UniGene; Hs.534404; -.
DR ProteinModelPortal; P49184; -.
DR SMR; P49184; 19-272.
DR MINT; MINT-4722206; -.
DR STRING; 9606.ENSP00000014935; -.
DR DMDM; 1352319; -.
DR PaxDb; P49184; -.
DR PRIDE; P49184; -.
DR DNASU; 1774; -.
DR Ensembl; ENST00000014935; ENSP00000014935; ENSG00000013563.
DR Ensembl; ENST00000309585; ENSP00000309168; ENSG00000013563.
DR Ensembl; ENST00000369807; ENSP00000358822; ENSG00000013563.
DR Ensembl; ENST00000369808; ENSP00000358823; ENSG00000013563.
DR Ensembl; ENST00000369809; ENSP00000358824; ENSG00000013563.
DR Ensembl; ENST00000393638; ENSP00000377255; ENSG00000013563.
DR Ensembl; ENST00000595836; ENSP00000473041; ENSG00000267993.
DR Ensembl; ENST00000596762; ENSP00000471031; ENSG00000267993.
DR Ensembl; ENST00000597132; ENSP00000470406; ENSG00000267993.
DR Ensembl; ENST00000598223; ENSP00000471305; ENSG00000267993.
DR Ensembl; ENST00000598641; ENSP00000472669; ENSG00000267993.
DR Ensembl; ENST00000601862; ENSP00000471171; ENSG00000267993.
DR GeneID; 1774; -.
DR KEGG; hsa:1774; -.
DR UCSC; uc004fks.1; human.
DR CTD; 1774; -.
DR GeneCards; GC0XM153629; -.
DR HGNC; HGNC:2957; DNASE1L1.
DR MIM; 300081; gene.
DR neXtProt; NX_P49184; -.
DR PharmGKB; PA27428; -.
DR eggNOG; NOG39448; -.
DR HOGENOM; HOG000059570; -.
DR HOVERGEN; HBG051368; -.
DR InParanoid; P49184; -.
DR KO; K11995; -.
DR OMA; VRILARC; -.
DR PhylomeDB; P49184; -.
DR GeneWiki; DNASE1L1; -.
DR GenomeRNAi; 1774; -.
DR NextBio; 7217; -.
DR PRO; PR:P49184; -.
DR ArrayExpress; P49184; -.
DR Bgee; P49184; -.
DR CleanEx; HS_DNASE1L1; -.
DR Genevestigator; P49184; -.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0004536; F:deoxyribonuclease activity; TAS:ProtInc.
DR GO; GO:0003677; F:DNA binding; TAS:ProtInc.
DR GO; GO:0016888; F:endodeoxyribonuclease activity, producing 5'-phosphomonoesters; IEA:InterPro.
DR GO; GO:0006308; P:DNA catabolic process; IEA:InterPro.
DR GO; GO:0006259; P:DNA metabolic process; TAS:ProtInc.
DR Gene3D; 3.60.10.10; -; 1.
DR InterPro; IPR018057; Deoxyribonuclease-1_AS.
DR InterPro; IPR016202; DNase_I.
DR InterPro; IPR005135; Endo/exonuclease/phosphatase.
DR PANTHER; PTHR11371; PTHR11371; 1.
DR Pfam; PF03372; Exo_endo_phos; 1.
DR PIRSF; PIRSF000988; DNase_I_euk; 1.
DR PRINTS; PR00130; DNASEI.
DR SMART; SM00476; DNaseIc; 1.
DR SUPFAM; SSF56219; SSF56219; 1.
DR PROSITE; PS00919; DNASE_I_1; 1.
DR PROSITE; PS00918; DNASE_I_2; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Disulfide bond; Endonuclease;
KW Endoplasmic reticulum; Glycoprotein; Hydrolase; Nuclease;
KW Polymorphism; Reference proteome; Signal.
FT SIGNAL 1 18 Potential.
FT CHAIN 19 302 Deoxyribonuclease-1-like 1.
FT /FTId=PRO_0000007284.
FT ACT_SITE 97 97 By similarity.
FT ACT_SITE 148 148 By similarity.
FT CARBOHYD 261 261 N-linked (GlcNAc...).
FT DISULFID 187 224 Essential for enzymatic activity (By
FT similarity).
FT VARIANT 122 122 V -> I (in dbSNP:rs34952165).
FT /FTId=VAR_048869.
FT CONFLICT 73 73 L -> I (in Ref. 2; AAB00496).
FT CONFLICT 78 78 G -> D (in Ref. 2; AAB00496).
FT CONFLICT 205 205 G -> S (in Ref. 2; AAB00496).
FT CONFLICT 227 227 D -> A (in Ref. 2; AAB00495 and 3;
FT AAA92647).
SQ SEQUENCE 302 AA; 33893 MW; D10CE8B470173727 CRC64;
MHYPTALLFL ILANGAQAFR ICAFNAQRLT LAKVAREQVM DTLVRILARC DIMVLQEVVD
SSGSAIPLLL RELNRFDGSG PYSTLSSPQL GRSTYMETYV YFYRSHKTQV LSSYVYNDED
DVFAREPFVA QFSLPSNVLP SLVLVPLHTT PKAVEKELNA LYDVFLEVSQ HWQSKDVILL
GDFNADCASL TKKRLDKLEL RTEPGFHWVI ADGEDTTVRA STHCTYDRVV LHGERCRSLL
HTAAAFDFPT SFQLTEEEAL NISDHYPVEV ELKLSQAHSV QPLSLTVLLL LSLLSPQLCP
AA
//
MIM
300081
*RECORD*
*FIELD* NO
300081
*FIELD* TI
*300081 DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1
;;DNase I, LYSOSOMAL-LIKE; DNL1L;;
DNase I-LIKE, MUSCLE-SPECIFIC
read more*FIELD* TX
CLONING
Parrish et al. (1995) isolated a novel cDNA from the region of Xq28
between QM (312173) and DXS1010E. Translation of the long open reading
frame found in the cDNA yielded a putative 302-amino acid protein with
37.6% identity to human DNase I (125505). The protein was predicted to
contain a signal sequence at the amino terminus, a transmembrane domain
near the carboxyl terminus, and a helix-loop-helix domain. The
transcript was present at highest levels in skeletal and cardiac muscle,
with lower expression in other tissues.
Pergolizzi et al. (1996) screened cDNA libraries with a cosmid that had
been mapped to Xq28 in the region between RCP/GCP (300822; 300821) and
G6PD (305900). They obtained a 2.1-kb cDNA and showed that it encodes a
putative 302-amino acid protein with 44% sequence identity to pig DNase
I and 39% identity to human DNase I. Northern blot analysis detected a
single 2.0-kb transcript in adult heart and skeletal muscle and an
additional transcript of 2.5 kb in some fetal tissues. The sequence of
Pergolizzi et al. (1996) was identical to that reported by Parrish et
al. (1995).
MAPPING
The DNASE1L1 gene maps to chromosome Xq28 (Parrish et al., 1995).
*FIELD* RF
1. Parrish, J. E.; Ciccodicola, A.; Wehnert, M.; Cox, G. F.; Chen,
E.; Nelson, D. L.: A muscle-specific DNase I-like gene in human Xq28. Hum.
Molec. Genet. 4: 1557-1564, 1995.
2. Pergolizzi, R.; Appierto, V.; Bosetti, A.; DeBellis, G. L.; Rovida,
E.; Biunno, I.: Cloning of a gene encoding a DNase I-like endonuclease
in the human Xq28 region. Gene 168: 267-270, 1996.
*FIELD* CN
Alan F. Scott - updated: 5/20/1996
*FIELD* CD
Victor A. McKusick: 5/19/1997
*FIELD* ED
carol: 10/24/2013
carol: 8/30/2010
carol: 8/12/2010
mark: 5/20/1997
*RECORD*
*FIELD* NO
300081
*FIELD* TI
*300081 DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1
;;DNase I, LYSOSOMAL-LIKE; DNL1L;;
DNase I-LIKE, MUSCLE-SPECIFIC
read more*FIELD* TX
CLONING
Parrish et al. (1995) isolated a novel cDNA from the region of Xq28
between QM (312173) and DXS1010E. Translation of the long open reading
frame found in the cDNA yielded a putative 302-amino acid protein with
37.6% identity to human DNase I (125505). The protein was predicted to
contain a signal sequence at the amino terminus, a transmembrane domain
near the carboxyl terminus, and a helix-loop-helix domain. The
transcript was present at highest levels in skeletal and cardiac muscle,
with lower expression in other tissues.
Pergolizzi et al. (1996) screened cDNA libraries with a cosmid that had
been mapped to Xq28 in the region between RCP/GCP (300822; 300821) and
G6PD (305900). They obtained a 2.1-kb cDNA and showed that it encodes a
putative 302-amino acid protein with 44% sequence identity to pig DNase
I and 39% identity to human DNase I. Northern blot analysis detected a
single 2.0-kb transcript in adult heart and skeletal muscle and an
additional transcript of 2.5 kb in some fetal tissues. The sequence of
Pergolizzi et al. (1996) was identical to that reported by Parrish et
al. (1995).
MAPPING
The DNASE1L1 gene maps to chromosome Xq28 (Parrish et al., 1995).
*FIELD* RF
1. Parrish, J. E.; Ciccodicola, A.; Wehnert, M.; Cox, G. F.; Chen,
E.; Nelson, D. L.: A muscle-specific DNase I-like gene in human Xq28. Hum.
Molec. Genet. 4: 1557-1564, 1995.
2. Pergolizzi, R.; Appierto, V.; Bosetti, A.; DeBellis, G. L.; Rovida,
E.; Biunno, I.: Cloning of a gene encoding a DNase I-like endonuclease
in the human Xq28 region. Gene 168: 267-270, 1996.
*FIELD* CN
Alan F. Scott - updated: 5/20/1996
*FIELD* CD
Victor A. McKusick: 5/19/1997
*FIELD* ED
carol: 10/24/2013
carol: 8/30/2010
carol: 8/12/2010
mark: 5/20/1997