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Aliases for DNASE1L1 Gene

Aliases for DNASE1L1 Gene

  • Deoxyribonuclease I-Like 1 2 3 4 5
  • 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
  • DNase I, Lysosomal-Like 3
  • EC 3.1.21.1 63
  • EC 3.1.21.- 4
  • EC 3.1.21 63
  • 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 I-Like 1) is a Protein Coding gene. Diseases associated with DNASE1L1 include xerophthalmia and human monocytic ehrlichiosis. GO annotations related to this gene include endodeoxyribonuclease activity and endodeoxyribonuclease activity, producing 5-phosphomonoesters. An important paralog of this gene is DNASE1.

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

Promoters for DNASE1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNASE1L1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DNASE1L1 gene promoter:

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

Proteomics data for DNASE1L1 Gene at MOPED

Selected DME Specific Peptides for DNASE1L1 Gene

Post-translational modifications for DNASE1L1 Gene

  • Glycosylation at Asn 261
  • Modification sites at PhosphoSitePlus

Antibody Products

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:0016888 endodeoxyribonuclease activity, producing 5-phosphomonoesters 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

CRISPR Products

miRNA for DNASE1L1 Gene

miRTarBase miRNAs that target DNASE1L1

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:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with DNASE1L1: view

Pathways & Interactions for DNASE1L1 Gene

SuperPathways for DNASE1L1 Gene

No Data Available

Interacting Proteins for DNASE1L1 Gene

Gene Ontology (GO) - Biological Process for DNASE1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with DNASE1L1: view

No data available for Pathways by source and SIGNOR curated interactions for DNASE1L1 Gene

Drugs & Compounds for DNASE1L1 Gene

No Compound Related Data Available

Transcripts for DNASE1L1 Gene

Unigene Clusters for DNASE1L1 Gene

Deoxyribonuclease I-like 1:
Representative Sequences:

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, MOPED, and MaxQB for DNASE1L1 Gene



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

Protein tissue co-expression partners for DNASE1L1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia DNASE1L1 35
  • 82.96 (n)
  • 78.52 (a)
DNASE1L1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNASE1L1 35
  • 86.72 (n)
  • 84.13 (a)
DNASE1L1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnase1l1 35
  • 75.67 (n)
  • 71.9 (a)
Dnase1l1 16
Dnase1l1 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnase1l1 35
  • 74.85 (n)
  • 71.43 (a)
oppossum
(Monodelphis domestica)
Mammalia DNASE1L1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNASE1L1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNASE1L1 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490914 35
  • 54.99 (n)
  • 45.91 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4995 35
zebrafish
(Danio rerio)
Actinopterygii dnase1l3 36
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
ManyToMany
-- 36
  • 36 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
Species with no ortholog for DNASE1L1:
  • 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
rs34952165 - 154,403,570(-) ATGAC(A/G)TCTTT nc-transcript-variant, reference, missense
rs1130929 -- 154,405,018(-) ATCCC(A/C/G)CTCCT nc-transcript-variant, reference, synonymous-codon
rs1050094 -- 154,405,612(-) CCTGG(A/C/G)GCAGC nc-transcript-variant, utr-variant-5-prime
rs1050095 -- 154,405,042(-) GTGGT(A/G)GACTC nc-transcript-variant, reference, synonymous-codon
rs2070806 -- 154,409,398(-) GCTGG(C/T)CCGGG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7468 OTHER Inversion 18451855
esv2677035 CNV Deletion 23128226
esv2664900 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
DNASE1L1
Human Gene Mutation Database (HGMD)
DNASE1L1

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

Disorders for DNASE1L1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
xerophthalmia
  • conjunctival xerosis
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
lacrimal apparatus disease
  • lacrimal apparatus diseases
keratomalacia
  • night blindness
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 23 67
  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 23
  3. Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders. (PMID: 10409440) Malferrari G. … Biunno I. (Exp. Mol. Pathol. 1999) 3 23
  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
  5. 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 23

Products for DNASE1L1 Gene

Sources for DNASE1L1 Gene

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