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

    Gene ID: 1774, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001009932.3NP_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:2273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    2. NM_001009933.3NP_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:2273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    3. NM_001009934.3NP_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:2273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    4. NM_001303620.2NP_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:2273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    5. NM_006730.4NP_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:2273
      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_047441892.1XP_047297848.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    2. XM_005277829.5XP_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:2273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    3. XM_017029332.2XP_016884821.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
      Conserved Domains (1) summary
      cl00490
      Location:2273
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    4. XM_047441893.1XP_047297849.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    5. XM_047441891.1XP_047297847.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    6. XM_047441890.1XP_047297846.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2

    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_054326636.1XP_054182611.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    2. XM_054326635.1XP_054182610.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    3. XM_054326632.1XP_054182607.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    4. XM_054326637.1XP_054182612.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    5. XM_054326634.1XP_054182609.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2
    6. XM_054326633.1XP_054182608.1  deoxyribonuclease-1-like 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWW7, P49184, Q5HY41
      UniProtKB/TrEMBL
      Q5TZW2

    RNA

    1. XR_008485458.1 RNA Sequence