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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 3.1.21.1 61
  • EC 3.1.21.- 4
  • EC 3.1.21 61
  • 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 Immune System. GO annotations related to this gene include endodeoxyribonuclease activity and endodeoxyribonuclease activity, producing 5-phosphomonoesters. An important paralog of this gene is DNASE1L3.

Gene Wiki entry for DNASE1L1 Gene

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

Genomics for DNASE1L1 Gene

Regulatory Elements for DNASE1L1 Gene

Enhancers for DNASE1L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF154396 0.6 ENCODE 20.8 +12.6 12633 6.2 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 PLXNA3 DNASE1L1 FAM50A EMD SNORA70 HCFC1 TMEM187 ENSG00000280195 GC0XP154401 GC0XP154402
GH0XF154436 0.4 ENCODE 18.8 -25.5 -25526 3.1 TBP WRNIP1 KLF17 ARID4B SIN3A YY1 GLIS2 SCRT2 ZNF143 CREM FAM50A PLXNA3 DNASE1L1 GDI1 GC0XM154442
GH0XF154408 1.1 ENCODE 17.6 +2.8 2815 2.0 PKNOX1 KLF17 ARID4B SIN3A RAD21 RFX5 RARA ZNF121 FOS CREM DNASE1L1 FAM3A TAZ SNORA70
GH0XF155067 0.5 ENCODE 7.9 -658.1 -658141 4.9 ARID4B GLI4 ZNF2 YY1 GLIS2 ELK1 FOS SP3 YY2 NFYC DNASE1L1 CMC4 F8
GH0XF154038 1.2 FANTOM5 Ensembl ENCODE 7.3 +368.8 368809 9.2 ZNF133 FEZF1 RAD21 ZNF121 GATA2 SCRT2 FOS EGR2 CEBPB NR2F2 TMEM187 HCFC1 MIR718 HCFC1-AS1 PLXNA3 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DNASE1L1 on UCSC Golden Path with GeneCards custom track

Promoters for DNASE1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000483214 312 2001 HDGF ARID4B SIN3A FEZF1 GLI4 DMAP1 ZNF2 GLIS2 YY2 KAT8

Genomic Location for DNASE1L1 Gene

Chromosome:
X
Start:
154,401,236 bp from pter
End:
154,412,112 bp from pter
Size:
10,877 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

Selected DME Specific Peptides for DNASE1L1 Gene

Post-translational modifications for DNASE1L1 Gene

  • Glycosylation at Asn 261
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for DNASE1L1

Domains & Families for DNASE1L1 Gene

Protein Domains for DNASE1L1 Gene

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

No data available for Gene Families for DNASE1L1 Gene

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

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:0004536 deoxyribonuclease activity IEA,TAS --
GO:0016787 hydrolase activity 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

miRNA for DNASE1L1 Gene

miRTarBase miRNAs that target DNASE1L1

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for DNASE1L1 Gene COMPARTMENTS Subcellular localization image for DNASE1L1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
nucleus 3

Gene Ontology (GO) - Cellular Components for DNASE1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005783 endoplasmic reticulum IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with DNASE1L1: view

Pathways & Interactions for DNASE1L1 Gene

SuperPathways for DNASE1L1 Gene

SuperPathway Contained pathways
1 Immune System
genes like me logo Genes that share pathways with DNASE1L1: view

Pathways by source for DNASE1L1 Gene

2 Reactome pathways for DNASE1L1 Gene

Interacting Proteins for DNASE1L1 Gene

Selected Interacting proteins: P49184-DNSL1_HUMAN for DNASE1L1 Gene via IID

Gene Ontology (GO) - Biological Process for DNASE1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process TAS 9205125
GO:0006308 DNA catabolic process IEA --
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

Transcripts for DNASE1L1 Gene

Unigene Clusters for DNASE1L1 Gene

Deoxyribonuclease I-like 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with DNASE1L1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 86.72 (n)
cow
(Bos Taurus)
Mammalia DNASE1L1 34 35
  • 82.96 (n)
mouse
(Mus musculus)
Mammalia Dnase1l1 34 16 35
  • 75.67 (n)
rat
(Rattus norvegicus)
Mammalia Dnase1l1 34
  • 74.85 (n)
oppossum
(Monodelphis domestica)
Mammalia DNASE1L1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNASE1L1 35
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNASE1L1 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490914 34
  • 54.99 (n)
zebrafish
(Danio rerio)
Actinopterygii dnase1l3 35
  • 40 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4995 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 27 (a)
ManyToMany
-- 35
  • 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)

Paralogs for DNASE1L1 Gene

Paralogs for DNASE1L1 Gene

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

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 Sequence Context AA Info Type
rs104894937 Pathogenic 154,413,549(+) GCAAG(C/T)GTGTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs104894941 Pathogenic 154,412,129(+) CTGTA(C/G)GAGCT nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs104894942 Pathogenic 154,413,248(+) TGATG(A/C/T)GTTGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs397515741 Pathogenic 154,413,507(+) TCTGC(C/T)TCACC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs794729166 Pathogenic 154,412,130(+) TGTAC(G/T)AGCTC nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime

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)

Relevant External Links 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

(5) MalaCards diseases for DNASE1L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
xerophthalmia
  • conjunctival xerosis
keratomalacia
  • night blindness
lacrimal apparatus disease
  • lacrimal apparatus diseases
glycogen storage disease ii
  • acid maltase deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DNASE1L1

Genetic Association Database (GAD)
DNASE1L1
Human Genome Epidemiology (HuGE) Navigator
DNASE1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNASE1L1
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 J.E. … Nelson D.L. (Hum. Mol. Genet. 1995) 2 3 4 22 64
  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. (Biochem. J. 2005) 3 4 22 64
  3. 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 64
  4. Isolation, differential splicing and protein expression of a DNase on the human X chromosome. (PMID: 17180083) Coy J.F. … Zentgraf H. (Cell Death Differ. 1996) 3 4 22 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for DNASE1L1 Gene

Sources for DNASE1L1 Gene

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