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    DNASE1L1 deoxyribonuclease 1 like 1 [ Homo sapiens (human) ]

    Gene ID: 1774, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DNASE1L1provided by HGNC
    Official Full Name
    deoxyribonuclease 1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:2957
    See related
    Ensembl:ENSG00000013563 MIM:300081; AllianceGenome:HGNC:2957
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XIB; G4.8; DNL1L; DNASEX; DNAS1L1
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 6.9), heart (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNASE1L1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154401236..154412101, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152637756..152648607, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153629577..153640438, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene uncharacterized LOC124905228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21100 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153626083-153626628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30060 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627173-153627718 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627719-153628262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153628263-153628808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153628809-153629352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30061 Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21101 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153641748-153641921 Neighboring gene tafazzin, phospholipid-lysophospholipid transacylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153647927-153648428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153648429-153648928 Neighboring gene ATP6AP1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153656739-153657240 Neighboring gene ATPase H+ transporting accessory protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A muscle-specific DNase I-like gene in human Xq28. Parrish JE, et al. Hum Mol Genet, 1995 Sep. PMID 8541839
    2. Functional characterization of a human DNase-like protein encoded by a gene positioned in Xq28. Appierto V, et al. Gene, 1997 Mar 25. PMID 9099869
    3. Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders. Malferrari G, et al. Exp Mol Pathol, 1999 Jun. PMID 10409440
    4. Deletion polymorphism of DNASE1L1, an X-linked DNase I-like gene, in acid maltase deficiency disorders. Malferrari G, et al. Exp Mol Pathol, 2001 Apr. PMID 11263960
    5. Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease). Lichtenbelt KD, et al. Exp Mol Pathol, 2006 Jun. PMID 16569403

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.
      Title: Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.
    2. genotyping of all 21 nonsynonymous DNase 1L1 SNPs was performed in 16 populations representing 3 ethnic groups; 2 activity-abolishing and 4 activity-reducing SNPs were confirmed to be functional; may be plausible that a minor allele of 6 SNPs producing a loss-of-function or low-activity variant could serve as a risk factor for disease
      Title: Evaluation of all nonsynonymous single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 1, possibly implicated in the blocking of endocytosis-mediated foreign gene transfer.
    3. Yeast two-hybrid screening revealed that DNase X, a glycosylphosphatidyl inositol-anchored mammalian cell-surface protein binds EtpE-C.
      Title: Ehrlichia chaffeensis uses its surface protein EtpE to bind GPI-anchored protein DNase X and trigger entry into mammalian cells.
    4. DNASEX and TKTL1 detection in patient blood is associated with poor disease-free survival rate in oral squamous cell carcinoma.
      Title: A biomarker based detection and characterization of carcinomas exploiting two fundamental biophysical mechanisms in mammalian cells.
    5. Several SNPs in the deoxyribonuclease I-like 1 (DNase 1L1) and DNase 1L2 were investigated.
      Title: Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.
    6. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.
    7. Genotyping of all the non-synonymous SNPs of was performed in three ethnic groups including six different populations using the PCR-RFLP method newly developed.
      Title: Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA nuclease activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables deoxyribonuclease I activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    deoxyribonuclease-1-like 1
    Names
    DNase I, lysosomal-like
    DNase I-like 1
    DNase I-like, muscle-specific
    deoxyribonuclease I-like 1
    NP_001009932.1
    NP_001009933.1
    NP_001009934.1
    NP_001290549.1
    NP_006721.1
    XP_005277886.1
    XP_016884821.1
    XP_047297846.1
    XP_047297847.1
    XP_047297848.1
    XP_047297849.1
    XP_054182607.1
    XP_054182608.1
    XP_054182609.1
    XP_054182610.1
    XP_054182611.1
    XP_054182612.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012884.2 RefSeqGene

      Range
      7835..15853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001009932.3 → NP_001009932.1  deoxyribonuclease-1-like 1 precursor

      See identical proteins and their annotated locations for NP_001009932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AC245140, AL079680, AW445150, BC001561, BC028092, BE900752, BG468580, X90393
      Consensus CDS
      CCDS14747.1
      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Related
      ENSP00000358824.1, ENST00000369809.5
      Conserved Domains (1) summary
      cl00490
      Location:2 → 273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. NM_001009933.3 → NP_001009933.1  deoxyribonuclease-1-like 1 precursor

      See identical proteins and their annotated locations for NP_001009933.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AC245140, AL079680, AW445150, BC028092, BE900752, BG468580, L40823
      Consensus CDS
      CCDS14747.1
      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Related
      ENSP00000309168.5, ENST00000309585.9
      Conserved Domains (1) summary
      cl00490
      Location:2 → 273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    3. NM_001009934.3 → NP_001009934.1  deoxyribonuclease-1-like 1 precursor

      See identical proteins and their annotated locations for NP_001009934.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AC245140, AL079680, AW445150, BC028092, BE900752, BG468580
      Consensus CDS
      CCDS14747.1
      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Related
      ENSP00000377255.1, ENST00000393638.5
      Conserved Domains (1) summary
      cl00490
      Location:2 → 273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    4. NM_001303620.2 → NP_001290549.1  deoxyribonuclease-1-like 1 precursor

      See identical proteins and their annotated locations for NP_001290549.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AW445150, BC028092, BE900752, U06846
      Consensus CDS
      CCDS14747.1
      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Related
      ENSP00000358822.1, ENST00000369807.6
      Conserved Domains (1) summary
      cl00490
      Location:2 → 273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    5. NM_006730.4 → NP_006721.1  deoxyribonuclease-1-like 1 precursor

      See identical proteins and their annotated locations for NP_006721.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AW445150, BC028092, BE900752
      Consensus CDS
      CCDS14747.1
      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Related
      ENSP00000358823.3, ENST00000369808.7
      Conserved Domains (1) summary
      cl00490
      Location:2 → 273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154401236..154412101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441892.1 → XP_047297848.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    2. XM_005277829.5 → XP_005277886.1  deoxyribonuclease-1-like 1 isoform X1

      See identical proteins and their annotated locations for XP_005277886.1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Related
      ENSP00000014935.3, ENST00000014935.7
      Conserved Domains (1) summary
      cl00490
      Location:2 → 273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    3. XM_017029332.2 → XP_016884821.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Conserved Domains (1) summary
      cl00490
      Location:2 → 273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    4. XM_047441893.1 → XP_047297849.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    5. XM_047441891.1 → XP_047297847.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    6. XM_047441890.1 → XP_047297846.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    RNA

    1. XR_007068182.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152637756..152648607 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326636.1 → XP_054182611.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    2. XM_054326635.1 → XP_054182610.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    3. XM_054326632.1 → XP_054182607.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    4. XM_054326637.1 → XP_054182612.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    5. XM_054326634.1 → XP_054182609.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    6. XM_054326633.1 → XP_054182608.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41

    RNA

    1. XR_008485458.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49184.1 GenPept UniProtKB/Swiss-Prot:P49184

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