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    ISG20 interferon stimulated exonuclease gene 20 [ Homo sapiens (human) ]

    Gene ID: 3669, updated on 5-Nov-2024

    Summary

    Official Symbol
    ISG20provided by HGNC
    Official Full Name
    interferon stimulated exonuclease gene 20provided by HGNC
    Primary source
    HGNC:HGNC:6130
    See related
    Ensembl:ENSG00000172183 MIM:604533; AllianceGenome:HGNC:6130
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD25; HEM45
    Summary
    Enables 3'-5' exonuclease activity and RNA binding activity. Involved in several processes, including DNA catabolic process; defense response to virus; and negative regulation of viral genome replication. Located in cytoplasm and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.7) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ISG20 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88635632..88656483)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86390338..86411119)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89178863..89199714)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89156265-89156949 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89163779-89164452 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89164453-89165126 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:89166102-89167301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89169771-89170314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10029 Neighboring gene microRNA 1179 Neighboring gene microRNA 3529 Neighboring gene microRNA 7-2 Neighboring gene Sharpr-MPRA regulatory region 1748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89181184-89182162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89182163-89183141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10033 Neighboring gene apoptosis enhancing nuclease Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89191225-89191986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10035 Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390146-89390646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390647-89391147 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89391205-89391372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89421781-89422356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89428493-89429204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89438001-89438612 Neighboring gene hyaluronan and proteoglycan link protein 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including HEM45, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed
    Vpr vpr HIV-1 Vpr upregulates the expression of ISG20 in human monocyte-derived dendritic cells PubMed
    Vpu vpu The expression of ISG20 is enhanced in Vpu-deficient HIV-1-infected cells as compared to that in wild-type-infected cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5'-RNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables U1 snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables U2 snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables U3 snoRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables exonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables exoribonuclease II activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables single-stranded DNA 3'-5' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in RNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in RNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of viral genome replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of viral genome replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in P-body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    interferon-stimulated gene 20 kDa protein
    Names
    estrogen-regulated transcript 45 protein
    interferon stimulated exonuclease gene 20kDa
    promyelocytic leukemia nuclear body-associated protein ISG20
    NP_001290162.1
    NP_001290163.1
    NP_001290164.1
    NP_001290165.1
    NP_001290166.1
    NP_002192.2

    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.

    mRNA and Protein(s)

    1. NM_001303233.2NP_001290162.1  interferon-stimulated gene 20 kDa protein isoform a

      See identical proteins and their annotated locations for NP_001290162.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC104259, AK307769, AV737297, BM691295, BX339191
      Consensus CDS
      CCDS10345.1
      UniProtKB/Swiss-Prot
      O00441, O00586, Q96AZ6
      Conserved Domains (1) summary
      cl10012
      Location:8163
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    2. NM_001303234.2NP_001290163.1  interferon-stimulated gene 20 kDa protein isoform a

      See identical proteins and their annotated locations for NP_001290163.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC104259, AK307769, AV737297, BI838264, BM691295, BX339191
      Consensus CDS
      CCDS10345.1
      UniProtKB/Swiss-Prot
      O00441, O00586, Q96AZ6
      Related
      ENSP00000368526.6, ENST00000379224.10
      Conserved Domains (1) summary
      cl10012
      Location:8163
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    3. NM_001303235.2NP_001290164.1  interferon-stimulated gene 20 kDa protein isoform b

      See identical proteins and their annotated locations for NP_001290164.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (b).
      Source sequence(s)
      AC104259, AK122793, AK307769, BM691295
      UniProtKB/TrEMBL
      Q59F22
      Conserved Domains (1) summary
      cl10012
      Location:64152
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    4. NM_001303236.2NP_001290165.1  interferon-stimulated gene 20 kDa protein isoform b

      See identical proteins and their annotated locations for NP_001290165.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction at the 5' end of an internal exon, resulting in translation initiation at an alternate start codon compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (b).
      Source sequence(s)
      AC104259, AK122793, AK307769, BC016341, BG759382
      UniProtKB/TrEMBL
      Q59F22
      Conserved Domains (1) summary
      cl10012
      Location:64152
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    5. NM_001303237.2NP_001290166.1  interferon-stimulated gene 20 kDa protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice junction at the 5' end of an internal exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC104259, AK307769, AV737297, BG759382, BX339191, CN265233
      Consensus CDS
      CCDS92053.1
      UniProtKB/TrEMBL
      H0YMM4
      Related
      ENSP00000453666.2, ENST00000559876.2
      Conserved Domains (1) summary
      cl10012
      Location:8143
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    6. NM_002201.6NP_002192.2  interferon-stimulated gene 20 kDa protein isoform a

      See identical proteins and their annotated locations for NP_002192.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC104259, AK307769, BC007922, BG759382, BX339191
      Consensus CDS
      CCDS10345.1
      UniProtKB/Swiss-Prot
      O00441, O00586, Q96AZ6
      Related
      ENSP00000306565.5, ENST00000306072.10
      Conserved Domains (1) summary
      cl10012
      Location:8163
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

    RNA

    1. NR_130134.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has an alternate first exon in place of the first two exons compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC104259, AK307769, AV737297, BM691295, BX339191

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      88635632..88656483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      86390338..86411119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)