Human Gene DNASE1L1 (ENST00000393638.5) from GENCODE V44
  Description: Homo sapiens deoxyribonuclease 1 like 1 (DNASE1L1), transcript variant 4, mRNA. (from RefSeq NM_001009934)
RefSeq Summary (NM_001009934): This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015].
Gencode Transcript: ENST00000393638.5
Gencode Gene: ENSG00000013563.14
Transcript (Including UTRs)
   Position: hg38 chrX:154,401,238-154,412,090 Size: 10,853 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chrX:154,402,707-154,405,568 Size: 2,862 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:154,401,238-154,412,090)mRNA (may differ from genome)Protein (302 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DNSL1_HUMAN
DESCRIPTION: RecName: Full=Deoxyribonuclease-1-like 1; EC=3.1.21.-; AltName: Full=DNase X; AltName: Full=Deoxyribonuclease I-like 1; Short=DNase I-like 1; AltName: Full=Muscle-specific DNase I-like; AltName: Full=XIB; Flags: Precursor;
SUBCELLULAR LOCATION: Endoplasmic reticulum.
TISSUE SPECIFICITY: Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain.
SIMILARITY: Belongs to the DNase I family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNASE1L1
Diseases sorted by gene-association score: human monocytic ehrlichiosis (16), xerophthalmia (12), keratomalacia (8), glycogen storage disease ii (6), lacrimal apparatus disease (5), ehrlichiosis (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.77 RPKM in Muscle - Skeletal
Total median expression: 325.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -131.90287-0.460 Picture PostScript Text
3' UTR -529.601469-0.361 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018057 - Deoxyribonuclease-1_AS
IPR016202 - DNase_I-like
IPR008185 - DNase_I_euk
IPR005135 - Endo/exonuclease/phosphatase

Pfam Domains:
PF03372 - Endonuclease/Exonuclease/phosphatase family

ModBase Predicted Comparative 3D Structure on P49184
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004536 deoxyribonuclease activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006259 DNA metabolic process
GO:0006308 DNA catabolic process
GO:0043312 neutrophil degranulation
GO:0090305 nucleic acid phosphodiester bond hydrolysis

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0035580 specific granule lumen


-  Descriptions from all associated GenBank mRNAs
  AY927623 - Homo sapiens mRNA sequence.
AY927536 - Homo sapiens mRNA sequence.
U06846 - Human XIB mRNA, complete cds.
BC028092 - Homo sapiens deoxyribonuclease I-like 1, mRNA (cDNA clone MGC:39969 IMAGE:5219882), complete cds.
X90392 - H.sapiens mRNA for DNase X gene.
L40823 - Homo sapiens muscle-specific DNase-like (DNL1L) gene, complete cds.
BC001561 - Homo sapiens deoxyribonuclease I-like 1, mRNA (cDNA clone MGC:5152 IMAGE:3456429), complete cds.
KJ896713 - Synthetic construct Homo sapiens clone ccsbBroadEn_06107 DNASE1L1 gene, encodes complete protein.
KJ896714 - Synthetic construct Homo sapiens clone ccsbBroadEn_06108 DNASE1L1 gene, encodes complete protein.
BT019990 - Homo sapiens deoxyribonuclease I-like 1 mRNA, complete cds.
DQ891681 - Synthetic construct clone IMAGE:100004311; FLH179236.01X; RZPDo839E04130D deoxyribonuclease I-like 1 (DNASE1L1) gene, encodes complete protein.
DQ894866 - Synthetic construct Homo sapiens clone IMAGE:100009326; FLH179232.01L; RZPDo839E04129D deoxyribonuclease I-like 1 (DNASE1L1) gene, encodes complete protein.
AM392815 - Synthetic construct Homo sapiens clone IMAGE:100002073 for hypothetical protein (DNASE1L1 gene).
AB528125 - Synthetic construct DNA, clone: pF1KE0136, Homo sapiens DNASE1L1 gene for deoxyribonuclease I-like 1, without stop codon, in Flexi system.
CU674764 - Synthetic construct Homo sapiens gateway clone IMAGE:100018777 5' read DNASE1L1 mRNA.
JD446327 - Sequence 427351 from Patent EP1572962.
JD127172 - Sequence 108196 from Patent EP1572962.
JD106532 - Sequence 87556 from Patent EP1572962.
JD050485 - Sequence 31509 from Patent EP1572962.
JD039193 - Sequence 20217 from Patent EP1572962.
JD529286 - Sequence 510310 from Patent EP1572962.
JD280084 - Sequence 261108 from Patent EP1572962.
JD348003 - Sequence 329027 from Patent EP1572962.
X87196 - H.sapiens mRNA for G4.8 gene.
X74606 - H.sapiens XAP-1 mRNA.
JD522803 - Sequence 503827 from Patent EP1572962.
JD177000 - Sequence 158024 from Patent EP1572962.
JD532000 - Sequence 513024 from Patent EP1572962.
JD504455 - Sequence 485479 from Patent EP1572962.
JD041087 - Sequence 22111 from Patent EP1572962.
JD481825 - Sequence 462849 from Patent EP1572962.
JD225651 - Sequence 206675 from Patent EP1572962.
JD218158 - Sequence 199182 from Patent EP1572962.
JD436843 - Sequence 417867 from Patent EP1572962.
JD115924 - Sequence 96948 from Patent EP1572962.
JD493245 - Sequence 474269 from Patent EP1572962.
JD174767 - Sequence 155791 from Patent EP1572962.
JD548966 - Sequence 529990 from Patent EP1572962.
JD390422 - Sequence 371446 from Patent EP1572962.
JD371025 - Sequence 352049 from Patent EP1572962.
JD232485 - Sequence 213509 from Patent EP1572962.
JD544637 - Sequence 525661 from Patent EP1572962.
JD103930 - Sequence 84954 from Patent EP1572962.
JD427108 - Sequence 408132 from Patent EP1572962.
X90393 - H.sapiens partial mRNA for DNase X.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P49184 (Reactome details) participates in the following event(s):

R-HSA-6798749 Exocytosis of specific granule lumen proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: D3DWW7, DNAS1L1, DNL1L, DNSL1_HUMAN, ENST00000393638.1, ENST00000393638.2, ENST00000393638.3, ENST00000393638.4, NM_001009934, P49184, Q5HY41, uc033fbl.1
UCSC ID: ENST00000393638.5
RefSeq Accession: NM_001009934
Protein: P49184 (aka DNSL1_HUMAN)
CCDS: CCDS14747.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.