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

Gene ID: 3669, updated on 11-Apr-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 defense response to virus; negative regulation of viral genome replication; and nucleobase-containing compound catabolic process. Located in cytoplasm and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.7) and 13 other tissues See more
Orthologs
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Genomic context

Location:
15q26.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88635632..88656483)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86390338..86411119)
105.20220307 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
  • 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 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_2023_10

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)