ISG15

Chr 1AR

ISG15 ubiquitin like modifier

Also known as: G1P2, IFI15, IMD38, IP17, UCRP, hUCRP

NCBI Gene: 9636 ENSG00000187608 UniProt: P05161 OMIM: 147571

The encoded protein is a ubiquitin-like modifier that conjugates to target proteins (ISGylation) and functions as a secreted cytokine, both critical for antiviral immunity and interferon signaling. Mutations cause immunodeficiency 38, an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and mycobacterial disease. The gene shows moderate tolerance to loss-of-function variants (LOEUF 1.691), consistent with the recessive inheritance pattern where biallelic mutations are required for disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…