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

Gene ID: 1774, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154401236..154412101, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152637756..152648607, complement)
105.20220307 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
  • 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. 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. Ueki M, et al. DNA Cell Biol, 2014 Feb. PMID 24329527, Free PMC Article
  2. Isolation, differential splicing and protein expression of a DNase on the human X chromosome. Coy JF, et al. Cell Death Differ, 1996 Apr. PMID 17180083
  3. 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
  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. 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

See all (40) 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_2023_10

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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