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P49184

- DNSL1_HUMAN

UniProt

P49184 - DNSL1_HUMAN

Protein

Deoxyribonuclease-1-like 1

Gene

DNASE1L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
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    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, producing 5'-phosphomonoesters Source: InterPro

    GO - Biological processi

    1. DNA metabolic process Source: ProtInc

    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: 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: UniProt

    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

    ArrayExpressiP49184.
    BgeeiP49184.
    CleanExiHS_DNASE1L1.
    GenevestigatoriP49184.

    Interactioni

    Protein-protein interaction databases

    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.
    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

    MHYPTALLFL ILANGAQAFR ICAFNAQRLT LAKVAREQVM DTLVRILARC    50
    DIMVLQEVVD SSGSAIPLLL RELNRFDGSG PYSTLSSPQL GRSTYMETYV 100
    YFYRSHKTQV LSSYVYNDED DVFAREPFVA QFSLPSNVLP SLVLVPLHTT 150
    PKAVEKELNA LYDVFLEVSQ HWQSKDVILL GDFNADCASL TKKRLDKLEL 200
    RTEPGFHWVI ADGEDTTVRA STHCTYDRVV LHGERCRSLL HTAAAFDFPT 250
    SFQLTEEEAL NISDHYPVEV ELKLSQAHSV QPLSLTVLLL LSLLSPQLCP 300
    AA 302
    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:
    EMBL
    GenBank
    DDBJ
    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_001009932.1.
    NP_001009933.1. NM_001009933.1.
    NP_001009934.1. NM_001009934.1.
    NP_006721.1. NM_006730.2.
    XP_005277886.1. XM_005277829.2.
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS14747.1.
    PIRi JC4633.
    RefSeqi NP_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.
    UniGenei Hs.401929.
    Hs.534404.

    3D structure databases

    ProteinModelPortali P49184.
    SMRi P49184. Positions 19-272.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-4722206.
    STRINGi 9606.ENSP00000014935.

    Polymorphism databases

    DMDMi 1352319.

    Proteomic databases

    MaxQBi P49184.
    PaxDbi P49184.
    PRIDEi P49184.

    Protocols and materials databases

    DNASUi 1774.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000014935 ; ENSP00000014935 ; ENSG00000013563 .
    ENST00000309585 ; ENSP00000309168 ; ENSG00000013563 .
    ENST00000369807 ; ENSP00000358822 ; ENSG00000013563 .
    ENST00000369808 ; ENSP00000358823 ; ENSG00000013563 .
    ENST00000369809 ; ENSP00000358824 ; ENSG00000013563 .
    ENST00000393638 ; ENSP00000377255 ; ENSG00000013563 .
    GeneIDi 1774.
    KEGGi hsa:1774.
    UCSCi uc004fks.1. human.

    Organism-specific databases

    CTDi 1774.
    GeneCardsi GC0XM153629.
    HGNCi HGNC:2957. DNASE1L1.
    MIMi 300081. gene.
    neXtProti NX_P49184.
    PharmGKBi PA27428.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39448.
    HOGENOMi HOG000059570.
    HOVERGENi HBG051368.
    InParanoidi P49184.
    KOi K11995.
    OMAi VRILARC.
    PhylomeDBi P49184.
    TreeFami TF329541.

    Miscellaneous databases

    GeneWikii DNASE1L1.
    GenomeRNAii 1774.
    NextBioi 7217.
    PROi P49184.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P49184.
    Bgeei P49184.
    CleanExi HS_DNASE1L1.
    Genevestigatori P49184.

    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

    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. 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. 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.

    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: October 1, 2014
    This is version 133 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