ISG15 (ISG15 ubiquitin like modifier)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9636
Gene name ISG15 ubiquitin like modifier
Gene symbol ISG15
Synonyms (NCBI Gene)
G1P2IFI15IMD38IP17UCRPhUCRP
Chromosome 1
Chromosome location 1p36.33
Summary The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic ac
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs672601312 G>A,T Uncertain-significance, pathogenic Stop gained, coding sequence variant, missense variant
rs672601345 ->G Pathogenic Coding sequence variant, frameshift variant
rs786201005 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT021235 hsa-miR-146a-5p Microarray 18057241
MIRT023954 hsa-miR-1-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002682 Process Regulation of immune system process IEA
GO:0005178 Function Integrin binding IPI 29100055
GO:0005515 Function Protein binding IPI 16189514, 16872604, 17597759, 18305167, 19270716, 20133869, 21245344, 21266548, 21808041, 25307056, 25416956, 28438633, 28514442, 28931677, 30644842, 31515488, 31765674, 32296183, 32428392, 32726803, 32814053, 32845033, 33727702, 33961781, 34270554, 34663977
GO:0005576 Component Extracellular region IDA 22859821
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147571 4053 ENSG00000187608
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05161
Protein name Ubiquitin-like protein ISG15 (Interferon-induced 15 kDa protein) (Interferon-induced 17 kDa protein) (IP17) (Ubiquitin cross-reactive protein) (hUCRP)
Protein function Ubiquitin-like protein which plays a key role in the innate immune response to viral infection either via its conjugation to a target protein (ISGylation) or via its action as a free or unconjugated protein (PubMed:27564865, PubMed:39465252). IS
PDB 1Z2M , 2HJ8 , 3PHX , 3PSE , 3R66 , 3RT3 , 3SDL , 5TL6 , 5W8T , 5W8U , 6BI8 , 6FFA , 6XA9 , 7RBS , 7S6P , 8OIF , 8SE9 , 8SEA , 8SEB , 8SV8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00240 ubiquitin 5 → 78 Ubiquitin family Domain
PF00240 ubiquitin 84 → 155 Ubiquitin family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in lymphoid cells, striated and smooth muscle, several epithelia and neurons. Expressed in neutrophils, monocytes and lymphocytes. Enhanced expression seen in pancreatic adenocarcinoma, endometrial cancer, and bladder cancer,
Sequence
Sequence length 165
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  RIG-I-like receptor signaling pathway
Human papillomavirus infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19 		  ISG15 antiviral mechanism
NS1 Mediated Effects on Host Pathways
DDX58/IFIH1-mediated induction of interferon-alpha/beta
Termination of translesion DNA synthesis
Interferon alpha/beta signaling
Negative regulators of DDX58/IFIH1 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
137
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Likely pathogenic; Pathogenic rs1644247121, rs672601312, rs672601345, rs786201005 RCV001330014
RCV000148988
RCV000148989
RCV000162196
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ISG15-related disorder Likely benign; Conflicting classifications of pathogenicity rs190639525, rs531701644, rs553176213, rs763176016, rs138829117 RCV003913665
RCV003901327
RCV003926831
RCV003954614
RCV003953195
Show/Hide Text Mining Associations (110)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 32402279
Adams Oliver syndrome Associate 27693507, 28287327
Aicardi Goutieres syndrome Associate 25307056
Anemia Refractory with Excess of Blasts Associate 25803272
Arthritis Psoriatic Associate 25809693
Arthritis Rheumatoid Associate 27356888
Ataxia Telangiectasia Associate 33617986
Atherosclerosis Associate 36437453
Atrophy Associate 20186858
Autism Spectrum Disorder Associate 36077244