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

Gene ID: 1774, updated on 4-Oct-2020

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
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

Genomic context

See DNASE1L1 in Genome Data Viewer
Location:
Xq28
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154401236..154412101, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153629579..153640428, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene tafazzin Neighboring gene uncharacterized protein BC009467 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
deoxyribonuclease I activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
deoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA catabolic process, endonucleolytic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA metabolic process TAS
Traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_011529424.1
XP_016884821.1

NCBI Reference Sequences (RefSeq)

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
    4998..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
    P49184
    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
    P49184
    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
    P49184
    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
    P49184
    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
    P49184
    Related
    ENSP00000358823.3, ENST00000369808.7
    Conserved Domains (1) summary
    cl00490
    Location:2273
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017029332.1XP_016884821.1  deoxyribonuclease-1-like 1 isoform X1

    UniProtKB/Swiss-Prot
    P49184
    Conserved Domains (1) summary
    cl00490
    Location:2273
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  2. XM_005277829.4XP_005277886.1  deoxyribonuclease-1-like 1 isoform X1

    See identical proteins and their annotated locations for XP_005277886.1

    UniProtKB/Swiss-Prot
    P49184
    Conserved Domains (1) summary
    cl00490
    Location:2273
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  3. XM_011531122.2XP_011529424.1  deoxyribonuclease-1-like 1 isoform X1

    See identical proteins and their annotated locations for XP_011529424.1

    UniProtKB/Swiss-Prot
    P49184
    Related
    ENSP00000014935.3, ENST00000014935.7
    Conserved Domains (1) summary
    cl00490
    Location:2273
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
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