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
Show/Hide all (50)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Likely pathogenic; Pathogenic rs1644247121, rs672601312, rs672601345, rs786201005 RCV001330014
RCV000148988
RCV000148989
RCV000162196
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOGENESIS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, MAJOR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (148)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 14976209
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30842212
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 20186858
★★★★★
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 25307056 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 25368022, 31709456
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 25809693 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27356888 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30407862
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 23212917, 28535250, 8564949
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 33617986 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only