Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DNASE1L1 Gene

Aliases for DNASE1L1 Gene

  • Deoxyribonuclease 1 Like 1 2 3 5
  • Deoxyribonuclease I-Like 1 2 3 4
  • DNase I-Like 1 3 4
  • DNase X 2 4
  • DNAS1L1 3 4
  • DNL1L 3 4
  • XIB 3 4
  • DNase I-Like, Muscle-Specific 3
  • Muscle-Specific DNase I-Like 4
  • Deoxyribonuclease-1-Like 1 3
  • DNase I, Lysosomal-Like 3
  • EC 3.1.21.- 4
  • DNASEX 3
  • G4.8 3

External Ids for DNASE1L1 Gene

Previous HGNC Symbols for DNASE1L1 Gene

  • DNL1L

Previous GeneCards Identifiers for DNASE1L1 Gene

  • GC0XM147693
  • GC0XM150010
  • GC0XM151215
  • GC0XM152098
  • GC0XM153150
  • GC0XM153282
  • GC0XM153629
  • GC0XM142206

Summaries for DNASE1L1 Gene

Entrez Gene Summary for DNASE1L1 Gene

  • 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]

GeneCards Summary for DNASE1L1 Gene

DNASE1L1 (Deoxyribonuclease 1 Like 1) is a Protein Coding gene. Diseases associated with DNASE1L1 include Human Monocytic Ehrlichiosis and Xerophthalmia. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include endodeoxyribonuclease activity and endodeoxyribonuclease activity, producing 5-phosphomonoesters. An important paralog of this gene is DNASE1L2.

Gene Wiki entry for DNASE1L1 Gene

Additional gene information for DNASE1L1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNASE1L1 Gene

Genomics for DNASE1L1 Gene

GeneHancer (GH) Regulatory Elements for DNASE1L1 Gene

Promoters and enhancers for DNASE1L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ154410 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.1 -97 2.8 HDGF ATF1 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF2 YY1 POLR2B DNASE1L1 TAZ FAM50A HCFC1 PLXNA3 SLC10A3 SNORA56 SNORA70 EMD CH17-340M24.3
GH0XJ154408 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 667.6 +2.8 2815 2 HDAC1 HDGF PKNOX1 CLOCK RB1 ARID4B KLF17 SIN3A ZBTB7B RFX5 DNASE1L1 TAZ FAM3A SNORA70 RPL10
GH0XJ154396 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.8 +12.6 12632 6.2 HNRNPUL1 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SNORA70 GC0XP154401 GC0XP154402 ENSG00000280195 RPL10 HCFC1 PLXNA3 DKC1 SNORA56 EMD
GH0XJ154436 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 18.8 -25.5 -25526 3.1 HDAC1 ATF1 RB1 ARID4B KLF17 SIN3A YY1 ZNF335 GLIS2 ZNF213 GC0XP154437 GC0XP154438 GC0XP154439 GDI1 FAM50A PLXNA3 DNASE1L1 ATP6AP1 GC0XM154442
GH0XJ155067 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 7.9 -658.1 -658141 4.9 FOXA2 ARID4B SIN3A GLI4 ZNF2 YY1 POLR2B GLIS2 ZNF213 ELK1 CMC4 BRCC3 DNASE1L1 F8 MTCP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNASE1L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNASE1L1 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • Nkx2-5

Genomic Locations for DNASE1L1 Gene

Genomic Locations for DNASE1L1 Gene
chrX:154,401,236-154,412,112
(GRCh38/hg38)
Size:
10,877 bases
Orientation:
Minus strand
chrX:153,629,579-153,640,449
(GRCh37/hg19)
Size:
10,871 bases
Orientation:
Minus strand

Genomic View for DNASE1L1 Gene

Genes around DNASE1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNASE1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNASE1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNASE1L1 Gene

Proteins for DNASE1L1 Gene

  • Protein details for DNASE1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49184-DNSL1_HUMAN
    Recommended name:
    Deoxyribonuclease-1-like 1
    Protein Accession:
    P49184
    Secondary Accessions:
    • D3DWW7
    • Q5HY41

    Protein attributes for DNASE1L1 Gene

    Size:
    302 amino acids
    Molecular mass:
    33893 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DNASE1L1 Gene

Post-translational modifications for DNASE1L1 Gene

  • Glycosylation at posLast=261261
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for DNASE1L1

No data available for DME Specific Peptides for DNASE1L1 Gene

Domains & Families for DNASE1L1 Gene

Gene Families for DNASE1L1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for DNASE1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49184

UniProtKB/Swiss-Prot:

DNSL1_HUMAN :
  • Belongs to the DNase I family.
Family:
  • Belongs to the DNase I family.
genes like me logo Genes that share domains with DNASE1L1: view

Function for DNASE1L1 Gene

Molecular function for DNASE1L1 Gene

GENATLAS Biochemistry:
DNase I-like endonuclease X-linked,35kDa,cardiac and muscle specific

Enzyme Numbers (IUBMB) for DNASE1L1 Gene

Phenotypes From GWAS Catalog for DNASE1L1 Gene

Gene Ontology (GO) - Molecular Function for DNASE1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9205125
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004520 endodeoxyribonuclease activity IBA --
GO:0004536 deoxyribonuclease activity TAS,IEA --
genes like me logo Genes that share ontologies with DNASE1L1: view
genes like me logo Genes that share phenotypes with DNASE1L1: view

Animal Models for DNASE1L1 Gene

MGI Knock Outs for DNASE1L1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DNASE1L1

CRISPR Products

miRNA for DNASE1L1 Gene

miRTarBase miRNAs that target DNASE1L1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNASE1L1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNASE1L1 Gene

Localization for DNASE1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNASE1L1 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNASE1L1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
nucleus 3

Gene Ontology (GO) - Cellular Components for DNASE1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IBA --
GO:0005783 endoplasmic reticulum IDA --
GO:0035580 specific granule lumen TAS --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with DNASE1L1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNASE1L1 Gene

Pathways & Interactions for DNASE1L1 Gene

genes like me logo Genes that share pathways with DNASE1L1: view

Pathways by source for DNASE1L1 Gene

3 Reactome pathways for DNASE1L1 Gene

Gene Ontology (GO) - Biological Process for DNASE1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000737 DNA catabolic process, endonucleolytic IBA --
GO:0006259 DNA metabolic process TAS 9205125
GO:0006308 DNA catabolic process IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with DNASE1L1: view

No data available for SIGNOR curated interactions for DNASE1L1 Gene

Drugs & Compounds for DNASE1L1 Gene

No Compound Related Data Available

Transcripts for DNASE1L1 Gene

mRNA/cDNA for DNASE1L1 Gene

Unigene Clusters for DNASE1L1 Gene

Deoxyribonuclease I-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNASE1L1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNASE1L1 Gene

No ASD Table

Relevant External Links for DNASE1L1 Gene

GeneLoc Exon Structure for
DNASE1L1
ECgene alternative splicing isoforms for
DNASE1L1

Expression for DNASE1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNASE1L1 Gene

mRNA differential expression in normal tissues according to GTEx for DNASE1L1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.7).

Protein differential expression in normal tissues from HIPED for DNASE1L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.3), Monocytes (7.8), and Placenta (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNASE1L1 Gene



Protein tissue co-expression partners for DNASE1L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNASE1L1 Gene:

DNASE1L1

SOURCE GeneReport for Unigene cluster for DNASE1L1 Gene:

Hs.401929

mRNA Expression by UniProt/SwissProt for DNASE1L1 Gene:

P49184-DNSL1_HUMAN
Tissue specificity: Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain.

Evidence on tissue expression from TISSUES for DNASE1L1 Gene

  • Muscle(4.7)
  • Heart(4.6)
  • Blood(4.2)
  • Stomach(3.2)
  • Intestine(2.7)
  • Liver(2.7)
  • Kidney(2.5)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with DNASE1L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNASE1L1 Gene

Orthologs for DNASE1L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNASE1L1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia DNASE1L1 34 33
  • 86.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNASE1L1 34 33
  • 82.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnase1l1 16 34 33
  • 75.67 (n)
rat
(Rattus norvegicus)
Mammalia Dnase1l1 33
  • 74.85 (n)
oppossum
(Monodelphis domestica)
Mammalia DNASE1L1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNASE1L1 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNASE1L1 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490914 33
  • 54.99 (n)
zebrafish
(Danio rerio)
Actinopterygii dnase1l3 34
  • 40 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4995 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
-- 34
  • 22 (a)
ManyToMany
Species where no ortholog for DNASE1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNASE1L1 Gene

ENSEMBL:
Gene Tree for DNASE1L1 (if available)
TreeFam:
Gene Tree for DNASE1L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNASE1L1: view image

Paralogs for DNASE1L1 Gene

Paralogs for DNASE1L1 Gene

(3) SIMAP similar genes for DNASE1L1 Gene using alignment to 6 proteins:

  • DNSL1_HUMAN
  • A3KQT1_HUMAN
  • A6QRJ0_HUMAN
  • E7ESG1_HUMAN
  • E7EUJ0_HUMAN
  • Q5HY40_HUMAN
genes like me logo Genes that share paralogs with DNASE1L1: view

Variants for DNASE1L1 Gene

Sequence variations from dbSNP and Humsavar for DNASE1L1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894937 pathogenic, 3-Methylglutaconic aciduria type 2 154,413,549(-) T/C upstream_transcript_variant
rs104894941 pathogenic, 3-Methylglutaconic aciduria type 2 154,412,129(-) C/G upstream_transcript_variant
rs104894942 pathogenic, 3-Methylglutaconic aciduria type 2, not provided 154,413,248(-) C/A/T upstream_transcript_variant
rs1060500044 uncertain-significance, 3-Methylglutaconic aciduria type 2 154,413,249(-) G/T upstream_transcript_variant
rs113130344 likely-benign, Dilated cardiomyopathy 3B, Left ventricular noncompaction cardiomyopathy, Endocardial fibroelastosis, 3-Methylglutaconic aciduria type 2 154,411,756(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DNASE1L1 Gene

Variant ID Type Subtype PubMed ID
esv2664900 CNV deletion 23128226
esv2677035 CNV deletion 23128226
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
esv3559502 CNV deletion 23714750
nsv519042 CNV gain 19592680
nsv7468 OTHER inversion 18451855

Variation tolerance for DNASE1L1 Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNASE1L1 Gene

Human Gene Mutation Database (HGMD)
DNASE1L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNASE1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNASE1L1 Gene

Disorders for DNASE1L1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DNASE1L1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
xerophthalmia
  • conjunctival xerosis
keratomalacia
  • night blindness
endocardial fibroelastosis
  • efe
glycogen storage disease ii
  • gsd2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNASE1L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNASE1L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNASE1L1 Gene

Publications for DNASE1L1 Gene

  1. A muscle-specific DNase I-like gene in human Xq28. (PMID: 8541839) Parrish JE … Nelson DL (Human molecular genetics 1995) 2 3 4 22 58
  2. Physical and biochemical properties of mammalian DNase X proteins: non-AUG translation initiation of porcine and bovine mRNAs for DNase X. (PMID: 16107205) Shiokawa D … Tanuma S (The Biochemical journal 2005) 3 4 22 58
  3. Isolation, differential splicing and protein expression of a DNase on the human X chromosome. (PMID: 17180083) Coy JF … Zentgraf H (Cell death and differentiation 1996) 3 4 22 58
  4. Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region. (PMID: 8654957) Pergolizzi R … Biunno I (Gene 1996) 2 3 4 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for DNASE1L1 Gene

Sources for DNASE1L1 Gene

Content
Loading form....