Aliases for ISG15 Gene
Aliases for ISG15 Gene
External Ids for ISG15 Gene
- HGNC: 4053
- Entrez Gene: 9636
- Ensembl: ENSG00000187608
- OMIM: 147571
- UniProtKB: P05161
Previous HGNC Symbols for ISG15 Gene
- G1P2
Previous GeneCards Identifiers for ISG15 Gene
- GC01P000478
- GC01P000938
- GC01P000220
Summaries for ISG15 Gene
-
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 activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
GeneCards Summary for ISG15 Gene
ISG15 (ISG15 Ubiquitin-Like Modifier) is a Protein Coding gene. Diseases associated with ISG15 include Immunodeficiency 38 With Basal Ganglia Calcification and Influenza. Among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Transport of the SLBP independent Mature mRNA. Gene Ontology (GO) annotations related to this gene include protein tag. An important paralog of this gene is UBC.
UniProtKB/Swiss-Prot for ISG15 Gene
-
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. ISGylation involves a cascade of enzymatic reactions involving E1, E2, and E3 enzymes which catalyze the conjugation of ISG15 to a lysine residue in the target protein. Its target proteins include IFIT1, MX1/MxA, PPM1B, UBE2L6, UBA7, CHMP5, CHMP2A, CHMP4B and CHMP6. Can also isgylate: EIF2AK2/PKR which results in its activation, DDX58/RIG-I which inhibits its function in antiviral signaling response, EIF4E2 which enhances its cap structure-binding activity and translation-inhibition activity, UBE2N and UBE2E1 which negatively regulates their activity, IRF3 which inhibits its ubiquitination and degradation and FLNB which prevents its ability to interact with the upstream activators of the JNK cascade therby inhibiting IFNA-induced JNK signaling. Exhibits antiviral activity towards both DNA and RNA viruses, including influenza A, HIV-1 and Ebola virus. Restricts HIV-1 and ebola virus via disruption of viral budding. Inhibits the ubiquitination of HIV-1 Gag and host TSG101 and disrupts their interaction, thereby preventing assembly and release of virions from infected cells. Inhibits Ebola virus budding mediated by the VP40 protein by disrupting ubiquitin ligase activity of NEDD4 and its ability to ubiquitinate VP40. ISGylates influenza A virus NS1 protein which causes a loss of function of the protein and the inhibition of virus replication. The secreted form of ISG15 can: induce natural killer cell proliferation, act as a chemotactic factor for neutrophils and act as a IFN-gamma-inducing cytokine playing an essential role in antimycobacterial immunity.
Additional gene information for ISG15 Gene
- Monarch Initiative
- Search for ISG15 at DataMed
- Search for ISG15 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISG15 Gene
Genomics for ISG15 Gene
GeneHancer (GH) Regulatory Elements for ISG15 Gene
Promoters and enhancers for ISG15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ISG15 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ISG15 gene promoter:
-
- STAT3
- deltaCREB
- CREB
- MyoD
- p53
Regulatory Element Products
Genomic Locations for ISG15 Gene
Genomic Locations for ISG15 Gene
- chr1:1,001,138-1,014,541
- (GRCh38/hg38)
- Size:
- 13,404 bases
- Orientation:
- Plus strand
- chr1:948,803-949,920
- (GRCh37/hg19)
- Size:
- 1,118 bases
- Orientation:
- Plus strand
Genomic View for ISG15 Gene
Genes around ISG15 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.33 by Entrez Gene
- 1p36.33 by HGNC
- 1p36.33 by Ensembl
ISG15 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ISG15 Gene
Proteins for ISG15 Gene
-
Protein details for ISG15 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P05161-ISG15_HUMAN
- Recommended name:
- Ubiquitin-like protein ISG15
- Protein Accession:
- P05161
- Q5SVA4
- Q7Z2G2
- Q96GF0
Protein attributes for ISG15 Gene
- Size:
- 165 amino acids
- Molecular mass:
- 17888 Da
- Quaternary structure:
-
- Homodimer; disulfide-linked. Interacts with, and is conjugated to its targets by the UBE1L (E1 enzyme) and UBE2E2 (E2 enzyme) (Probable). Interacts with NEDD4.
- (Microbial infection) Interacts with vaccinia virus protein E3.
- (Microbial infection) Interaction with influenza B NS1 protein inhibits its conjugation.
Protein Expression for ISG15 Gene
Post-translational modifications for ISG15 Gene
- S-nitrosylation decreases its dimerization, thereby increasing the availability as well as the solubility of monomeric ISG15 for its conjugation to cellular proteins.
- Induced as an inactive, precursor protein that is cleaved by specific proteases to expose the C-terminal diglycine (LRLRGG) motif. This motif is essential not only for its conjugation to substrates but also for its recognition by the relevant processing proteases.
- Ubiquitination at isoforms=177 and Lys35
- Modification sites at PhosphoSitePlus
Other Protein References for ISG15 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for ISG15 (ISG15/UCRP)
-
Custom Antibody ServicesOriGene Antibodies for ISG15
- Novus Biologicals Antibodies for ISG15
-
Abcam antibodies for ISG15
- Invitrogen Antibodies for ISG15 (AFLGC-ISG15)
- GeneTex ISG15 Antibody for ISG15
-
Santa Cruz Biotechnology (SCBT) Antibodies for ISG15
- Sino Biological Antibodies for ISG15
Protein Products
- R&D Systems Proteins and Enzymes for ISG15 (ISG15/UCRP)
-
OriGene Purified Proteins for ISG15
- Search Origene for MassSpec and Protein Over-expression Lysates for ISG15
- Origene Custom Protein Services for ISG15
- Sino Biological Recombinant Proteins for ISG15
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for ISG15
- Search GeneTex for Proteins for ISG15
-
ProSci Proteins for ISG15
-
Abcam proteins for ISG15
Assay Products
- R&D Systems Activity Assays and other biochemical assays for ISG15 (ISG15/UCRP)
- antibodies-online: Search results for 2 available ISG15 Elisa Kits ranked by validation data
- Compare Top ISG15 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ISG15 Gene
Domains & Families for ISG15 Gene
Gene Families for ISG15 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ISG15 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ISG15 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P05161UniProtKB/Swiss-Prot:
ISG15_HUMAN :- Both the Ubiquitin-like 1 and Ubiquitin-like 2 domains are required for its efficient conjugation to cellular proteins. The two domains play different roles in the ISGylation pathway: Ubiquitin-like 2 domain is necessary for the first two steps allowing the linking of ISG15 to the E1 and E2 enzymes while Ubiquitin-like 1 domain is essential for the final, E3-mediated transfer of ISG15, from the E2 to the Lys of the target protein (PubMed:18356159).
- Domain:
-
- Both the Ubiquitin-like 1 and Ubiquitin-like 2 domains are required for its efficient conjugation to cellular proteins. The two domains play different roles in the ISGylation pathway: Ubiquitin-like 2 domain is necessary for the first two steps allowing the linking of ISG15 to the E1 and E2 enzymes while Ubiquitin-like 1 domain is essential for the final, E3-mediated transfer of ISG15, from the E2 to the Lys of the target protein (PubMed:18356159).
Function for ISG15 Gene
Molecular function for ISG15 Gene
- UniProtKB/Swiss-Prot 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. ISGylation involves a cascade of enzymatic reactions involving E1, E2, and E3 enzymes which catalyze the conjugation of ISG15 to a lysine residue in the target protein. Its target proteins include IFIT1, MX1/MxA, PPM1B, UBE2L6, UBA7, CHMP5, CHMP2A, CHMP4B and CHMP6. Can also isgylate: EIF2AK2/PKR which results in its activation, DDX58/RIG-I which inhibits its function in antiviral signaling response, EIF4E2 which enhances its cap structure-binding activity and translation-inhibition activity, UBE2N and UBE2E1 which negatively regulates their activity, IRF3 which inhibits its ubiquitination and degradation and FLNB which prevents its ability to interact with the upstream activators of the JNK cascade therby inhibiting IFNA-induced JNK signaling. Exhibits antiviral activity towards both DNA and RNA viruses, including influenza A, HIV-1 and Ebola virus. Restricts HIV-1 and ebola virus via disruption of viral budding. Inhibits the ubiquitination of HIV-1 Gag and host TSG101 and disrupts their interaction, thereby preventing assembly and release of virions from infected cells. Inhibits Ebola virus budding mediated by the VP40 protein by disrupting ubiquitin ligase activity of NEDD4 and its ability to ubiquitinate VP40. ISGylates influenza A virus NS1 protein which causes a loss of function of the protein and the inhibition of virus replication. The secreted form of ISG15 can: induce natural killer cell proliferation, act as a chemotactic factor for neutrophils and act as a IFN-gamma-inducing cytokine playing an essential role in antimycobacterial immunity.
- UniProtKB/Swiss-Prot Induction:
- Strongly induced upon exposure to type I interferons, viruses, LPS, and other stresses, including certain genotoxic stresses.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0031386 | protein tag | IEA | -- |
| GO:0031625 | ubiquitin protein ligase binding | IBA | -- |
| GO:0070628 | proteasome binding | IBA | -- |
Phenotypes for ISG15 Gene
- MGI mutant phenotypes for ISG15:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ISG15:
-
- Decreased viability ratio
- Increased cell death HMECs cells
- Negative genetic interaction between BLM-/- and BLM+/+
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A/WSN/33 replication
- Increased transferrin (TF) endocytosis
Animal Models for ISG15 Gene
- MGI Knock Outs for ISG15:
-
- Isg15 Isg15<tm1Kpk>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ISG15
-
CRISPR Products
-
OriGene CRISPR knockouts for ISG15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ISG15
- genomics-online: gRNA clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
- Applied Biological Materials CRISPR for ISG15
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ISG15
- GenScript: Design CRISPR guide RNA sequences for ISG15
miRNA for ISG15 Gene
- miRTarBase miRNAs that target ISG15
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ISG15
- Browse OriGene Inhibitory RNA Products For ISG15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISG15
- genomics-online: shRNA clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ISG15
- Addgene plasmids for ISG15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ISG15
- Applied Biological Materials Clones for ISG15
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ISG15
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ISG15 Gene
Localization for ISG15 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ISG15 Gene
- Cytoplasm. Secreted. Note=Exists in three distinct states: free within the cell, released into the extracellular space, or conjugated to target proteins.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| lysosome | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA,IDA | 22859821 |
| GO:0005634 | nucleus | IBA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,IBA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ISG15 Gene
Pathways & Interactions for ISG15 Gene
Pathways by source for ISG15 Gene
2 BioSystems pathways for ISG15 Gene
18 Reactome pathways for ISG15 Gene
2 KEGG pathways for ISG15 Gene
1 GeneGo (Thomson Reuters) pathway for ISG15 Gene
Interacting Proteins for ISG15 Gene
Selected Interacting proteins:
P05161-ISG15_HUMAN
ENSP00000368699
for ISG15 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for ISG15
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016032 | viral process | IEA | -- |
| GO:0016567 | NOT protein ubiquitination | IBA | -- |
| GO:0019941 | modification-dependent protein catabolic process | IEA | -- |
| GO:0019985 | translesion synthesis | TAS | -- |
| GO:0030501 | positive regulation of bone mineralization | ISS,IEA | -- |
No data available for SIGNOR curated interactions for ISG15 Gene
Drugs & Compounds for ISG15 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Irinotecan | Approved, Investigational | Pharma | inhibitor, Biomarker | Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 1181 | |
| Camptothecin | Experimental | Pharma | Topoisomerase I inhibitor,prototypic | 744 | ||
| Antineoplastic Agents, Phytogenic | Pharma | 5862 | ||||
| topoisomerase I inhibitors | Pharma | 1422 | ||||
| Topoisomerase Inhibitors | Pharma | 5269 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for ISG15 Gene
mRNA/cDNA for ISG15 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (231) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000624697 788 bps (uc057ayq.1)
- ENST00000624652 657 bps (uc057ayr.1)
- ENST00000379389 711 bps (uc001acj.5)
Unigene Clusters for ISG15 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ISG15
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ISG15
- genomics-online: gRNA clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
- Applied Biological Materials CRISPR for ISG15
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ISG15
- GenScript: Design CRISPR guide RNA sequences for ISG15
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ISG15
- Browse OriGene Inhibitory RNA Products For ISG15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISG15
- genomics-online: shRNA clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ISG15
- Addgene plasmids for ISG15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ISG15
- Applied Biological Materials Clones for ISG15
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ISG15 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for ISG15 Gene
This gene is overexpressed in Brain - Substantia nigra (x8.2).
This gene is overexpressed in Amniocyte (11.1), Breast (8.3), Oral epithelium (8.1), and Platelet (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ISG15 Gene
NURSA nuclear receptor signaling pathways regulating expression of ISG15 Gene:
ISG15SOURCE GeneReport for Unigene cluster for ISG15 Gene:
Hs.458485mRNA Expression by UniProt/SwissProt for ISG15 Gene:
P05161-ISG15_HUMAN
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, as compared to non-cancerous tissue. In bladder cancer, the increase in expression exhibits a striking positive correlation with more advanced stages of the disease.
Evidence on tissue expression from TISSUES for ISG15 Gene
- Liver(4.5)
- Intestine(4.4)
- Spleen(2.8)
- Blood(2.7)
- Kidney(2.3)
- Lung(2.3)
- Lymph node(2.1)
- Bone marrow(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ISG15 Gene
Germ Layers:
- endoderm
- mesoderm
Systems:
- immune
- lymphatic
- respiratory
Regions:
Thorax:
- lung
General:
- blood
- bone marrow
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ISG15
-
OriGene qPCR primer pairs and template standards for ISG15
- genomics-online: primer clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
Gene Expression Assay Products
Orthologs for ISG15 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ISG15 34 34 33 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | ISG15 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Isg15 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | ISG15 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Isg15 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ISG15 34 |
|
OneToOne |
- Species where no ortholog for ISG15 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for ISG15 Gene
- ENSEMBL:
- Gene Tree for ISG15 (if available)
- TreeFam:
- Gene Tree for ISG15 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ISG15: view image
Paralogs for ISG15 Gene
Variants for ISG15 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs116002608 | benign, Immunodeficiency 38 with basal ganglia calcification | 1,014,451(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs140447219 | likely-benign, Immunodeficiency 38 with basal ganglia calcification | 1,014,471(+) | G/A/C | coding_sequence_variant, missense_variant | |
| rs143888043 | benign, Immunodeficiency 38 with basal ganglia calcification | 1,014,042(+) | G/A | coding_sequence_variant, missense_variant | |
| rs61766284 | benign, Immunodeficiency 38 with basal ganglia calcification | 1,014,217(+) | C/G/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs672601312 | pathogenic, Immunodeficiency 38 with basal ganglia calcification | 1,014,359(+) | G/A/T | coding_sequence_variant, missense_variant, stop_gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv17n54 | CNV | loss | 21841781 |
| dgv2n67 | CNV | gain | 20364138 |
| dgv5n100 | CNV | gain | 25217958 |
| esv2762302 | CNV | gain | 21179565 |
| nsv1013524 | CNV | gain | 25217958 |
| nsv10161 | CNV | gain+loss | 18304495 |
| nsv1160644 | CNV | deletion | 26073780 |
| nsv428334 | CNV | gain | 18775914 |
| nsv482937 | CNV | loss | 15286789 |
| nsv509146 | CNV | insertion | 20534489 |
| nsv517709 | CNV | gain+loss | 19592680 |
| nsv544895 | CNV | loss | 21841781 |
| nsv945741 | CNV | duplication | 23825009 |
| nsv950451 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
74.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.95;
79.83% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ISG15 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISG15 Gene
Disorders for ISG15 Gene
(7) MalaCards diseases for ISG15 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 38 with basal ganglia calcification |
|
|
| influenza |
|
|
| immune system disease |
|
|
| basal ganglia calcification |
|
|
| microphthalmia with limb anomalies |
|
|
Search ISG15 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ISG15_HUMAN- Immunodeficiency 38, with basal ganglia calcification (IMD38) [MIM:616126]: A primary immunodeficiency predisposing individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients are also susceptible to Salmonella and Mycobacterium tubercolosis infections. Affected individuals have intracranial calcification. {ECO:0000269 PubMed:22859821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ISG15
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ISG15 Gene
Publications for ISG15 Gene
- ISG15 conjugation system targets the viral NS1 protein in influenza A virus-infected cells. (PMID: 20133869) Zhao C … Krug RM (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 22 58
- ISG15 modification of filamin B negatively regulates the type I interferon-induced JNK signalling pathway. (PMID: 19270716) Jeon YJ … Chung CH (EMBO reports 2009) 3 4 22 58
- Interferon-induced ISG15 conjugation inhibits influenza A virus gene expression and replication in human cells. (PMID: 19357168) Hsiang TY … Krug RM (Journal of virology 2009) 3 4 22 58
- Different roles for two ubiquitin-like domains of ISG15 in protein modification. (PMID: 18356159) Chang YG … Hu HY (The Journal of biological chemistry 2008) 3 4 22 58
- Nitrosylation of ISG15 prevents the disulfide bond-mediated dimerization of ISG15 and contributes to effective ISGylation. (PMID: 18606809) Okumura F … Zhang DE (The Journal of biological chemistry 2008) 3 4 22 58
Products for ISG15 Gene
- R&D Systems Antibodies for ISG15 (ISG15/UCRP)
- R&D Systems Proteins and Enzymes for ISG15 (ISG15/UCRP)
- R&D Systems Activity Assays and other biochemical assays for ISG15 (ISG15/UCRP)
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- Custom Antibody ServicesOriGene Antibodies for ISG15
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for ISG15
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- OriGene qPCR primer pairs for ISG15
- OriGene qPCR primer pairs and template standards for ISG15
- OriGene CRISPR knockouts for ISG15
- OriGene ORF clones in human for ISG15
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ISG15
- GenScript: Next-day shipping of latest version cDNA ORF clones for ISG15 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ISG15
- GenScript Custom Assay Services for ISG15
- GenScript Custom overexpressing Cell Line Services for ISG15
- GenScript: Design CRISPR guide RNA sequences for ISG15
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Sino Biological Human cDNA Clone for ISG15
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for ISG15
- Novus Biologicals proteins and lysates for ISG15
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- Novus Biologicals Tissue Microarrays
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- ProSpec Recombinant Proteins for ISG15
- Invitrogen Antibodies for ISG15 (AFLGC-ISG15)
- Cyagen custom Knockout/knockin (KOKI) mouse models for ISG15
- Addgene plasmids for ISG15
- antibodies-online: Search results for 149 available ISG15 Antibodies ranked by validation data
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- antibodies-online: Search results for 2 available ISG15 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 35 available ISG15 Proteins ranked by validation data
- Compare Top ISG15 Proteins
- GeneTex ISG15 Antibody for ISG15
- Search GeneTex for Proteins for ISG15
- Santa Cruz Biotechnology (SCBT) Antibodies for ISG15
- Search Santa Cruz Biotechnology (SCBT) for ISG15 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ISG15
- Search for ISG15 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for ISG15
- Horizon Cell Lines for ISG15
- genomics-online: cdna clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
- orf clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
- genomics-online: gRNA clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
- genomics-online: primer clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
- genomics-online: shRNA clones - Search results for 108 available ISG15 gene related products
- Overview of 108 available ISG15 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ISG15
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ISG15
- GeneCopoeia miRNA 3'UTR Target clone products for ISG15
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISG15
Sources for ISG15 Gene
- (1) GeneCards
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- (14) ProtoNet
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
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- (91) Illumina
- (92) COMPARTMENTS
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- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
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- (108) SCBT
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
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- (164) LncRNADisease
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- (169) Biorbyt