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

Gene ID: 3669, updated on 12-Jan-2019

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
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
Expression
Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.7) and 13 other tissues See more
Orthologs

Genomic context

See ISG20 in Genome Data Viewer
Location:
15q26.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (88635614..88656344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89178904..89198881)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene microRNA 1179 Neighboring gene microRNA 3529 Neighboring gene microRNA 7-2 Neighboring gene apoptosis enhancing nuclease Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Interferon Signaling, organism-specific biosystem (from REACTOME)
    Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
  • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
    Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5'-exoribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
U1 snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
U2 snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
U3 snoRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
exonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
exoribonuclease II activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
single-stranded DNA 3'-5' exodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, exonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
RNA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
RNA phosphodiester bond hydrolysis, exonucleolytic IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of viral genome replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
rRNA processing IEA
Inferred from Electronic Annotation
more info
 
response to virus IDA
Inferred from Direct Assay
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
PML body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
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
XP_005254956.1
XP_006720551.1
XP_011519823.1
XP_016877636.1
XP_016877637.1

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.

mRNA and Protein(s)

  1. NM_001303233.1NP_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
    Q96AZ6
    Conserved Domains (1) summary
    cl10012
    Location:8163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  2. NM_001303234.1NP_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
    Q96AZ6
    Conserved Domains (1) summary
    cl10012
    Location:8163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  3. NM_001303235.1NP_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
    Conserved Domains (1) summary
    cl10012
    Location:64152
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  4. NM_001303236.1NP_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/Swiss-Prot
    Q96AZ6
    Conserved Domains (1) summary
    cl10012
    Location:64152
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  5. NM_001303237.1NP_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
    Related
    ENSP00000453666.1, ENST00000559876.1
    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
    Q96AZ6
    Related
    ENSP00000306565.5, ENST00000306072.9
    Conserved Domains (1) summary
    cl10012
    Location:8163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

RNA

  1. NR_130134.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    88635614..88656344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022148.1XP_016877637.1  interferon-stimulated gene 20 kDa protein isoform X3

    Conserved Domains (1) summary
    cl10012
    Location:8143
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  2. XM_006720488.3XP_006720551.1  interferon-stimulated gene 20 kDa protein isoform X1

    See identical proteins and their annotated locations for XP_006720551.1

    UniProtKB/Swiss-Prot
    Q96AZ6
    Related
    ENSP00000453638.1, ENST00000560741.5
    Conserved Domains (1) summary
    cl10012
    Location:8163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  3. XM_017022147.1XP_016877636.1  interferon-stimulated gene 20 kDa protein isoform X2

    Conserved Domains (1) summary
    cl10012
    Location:64152
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  4. XM_005254899.2XP_005254956.1  interferon-stimulated gene 20 kDa protein isoform X1

    See identical proteins and their annotated locations for XP_005254956.1

    UniProtKB/Swiss-Prot
    Q96AZ6
    Conserved Domains (1) summary
    cl10012
    Location:8163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  5. XM_011521521.2XP_011519823.1  interferon-stimulated gene 20 kDa protein isoform X4

    Conserved Domains (1) summary
    cl10012
    Location:53139
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
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