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UniProt functional annotation for P48551 | ||
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| UniProt codes: P48551, Q15467. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Associates with IFNAR1 to form the plasma membrane receptor in the type I interferon signaling pathway (PubMed:26424569, PubMed:28165510, PubMed:32972995). Directly involved in signal transduction through its association with the TYR kinase JAK1 (PubMed:8181059, PubMed:7665574, PubMed:7759950). Involved in interferon-mediated STAT1, STAT2 and STAT3 activation (PubMed:26424569, PubMed:32972995). {ECO:0000269|PubMed:10049744, ECO:0000269|PubMed:11682488, ECO:0000269|PubMed:12105218, ECO:0000269|PubMed:26424569, ECO:0000269|PubMed:28165510, ECO:0000269|PubMed:32972995, ECO:0000269|PubMed:7665574, ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059}. |
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| Function: | |
[Isoform 3]: Potent inhibitor of type I IFN receptor activity. {ECO:0000269|PubMed:7759950}. |
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| Subunit: | |
Heterodimer with IFNAR1 (PubMed:8181059, PubMed:7665574, PubMed:10049744, PubMed:24075985, PubMed:21854986). Interacts with the transcriptional factors STAT1 and STAT2 (PubMed:9121453, PubMed:28165510). Interacts with JAK1 (PubMed:8181059, PubMed:7759950). Interacts with USP18; indirectly via STAT2, it negatively regulates the assembly of the ternary interferon-IFNAR1-IFNAR2 complex and therefore type I interferon signaling (PubMed:28165510). {ECO:0000269|PubMed:10049744, ECO:0000269|PubMed:17001036, ECO:0000269|PubMed:20496919, ECO:0000269|PubMed:21854986, ECO:0000269|PubMed:24075985, ECO:0000269|PubMed:28165510, ECO:0000269|PubMed:7665574, ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059, ECO:0000269|PubMed:9121453}. |
| Subcellular location: | |
[Isoform 1]: Cell membrane {ECO:0000269|PubMed:7665574}; Single-pass type I membrane protein {ECO:0000269|PubMed:7665574}. |
| Subcellular location: | |
[Isoform 2]: Cell membrane {ECO:0000269|PubMed:7665574, ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059}; Single-pass type I membrane protein {ECO:0000269|PubMed:7665574}. |
| Subcellular location: | |
[Isoform 3]: Secreted {ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059}. |
| Tissue specificity: | |
Isoform 3 is detected in the urine (at protein level) (PubMed:8181059, PubMed:7759950). Expressed in blood cells. Expressed in lymphoblastoid and fibrosarcoma cell lines. {ECO:0000269|PubMed:7588638, ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059}. |
| Ptm: | |
Phosphorylated on tyrosine residues upon interferon binding. Phosphorylation at Tyr-337 or Tyr-512 are sufficient to mediate interferon dependent activation of STAT1, STAT2 and STAT3 leading to antiproliferative effects on many different cell types. {ECO:0000269|PubMed:11682488, ECO:0000269|PubMed:12105218, ECO:0000269|PubMed:7759950}. |
| Ptm: | |
Glycosylated. {ECO:0000269|PubMed:8181059}. |
| Polymorphism: | |
Genetic variations in IFNAR2 influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]. |
| Disease: | |
Immunodeficiency 45 (IMD45) [MIM:616669]: An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection- associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. {ECO:0000269|PubMed:26424569}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Miscellaneous: | |
[Isoform 3]: Soluble receptor. {ECO:0000305}. |
| Similarity: | |
Belongs to the type II cytokine receptor family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.