TMEM173 Blocking Peptide

This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

TMEM173: Facilitator of innate immune signaling that promotes the production of type I interferon (IFN-alpha and IFN-beta). Innate immune response is triggered in response to non-CpG double- stranded DNA from viruses and bacteria delivered to the cytoplasm. Able to activate both NF-kappa-B and IRF3 transcription pathways to induce expression of type I interferon and exert a potent anti- viral state following expression. May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons. May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II). Mediates death signaling via activation of the extracellular signal-regulated kinase (ERK) pathway. Associates with the MHC-II complex. Homodimer; 'Lys-63'-linked ubiquitination at Lys-150 is required for homodimerization. Interacts with DDX58/RIG-I, MAVS/VISA and SSR2. Interacts with RNF5 and TRIM56. Interacts with TBK1; when homodimer, leading to subsequent production of IFN-beta. Ubiquitously expressed. Belongs to the TMEM173 family.

Protein type: Endoplasmic reticulum; Mitochondrial; Apoptosis; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 5q31.2

Cellular Component: cytoplasmic vesicle membrane; endoplasmic reticulum membrane; Golgi apparatus; integral to membrane; mitochondrial outer membrane; perinuclear region of cytoplasm; peroxisome; plasma membrane

Molecular Function: identical protein binding; protein binding; protein homodimerization activity; protein kinase binding; transcription factor binding; ubiquitin protein ligase binding

Biological Process: activation of innate immune response; apoptosis; defense response to virus; innate immune response; interferon-beta production; positive regulation of defense response to virus by host; positive regulation of interferon type I production; positive regulation of protein binding; positive regulation of protein import into nucleus, translocation; positive regulation of transcription factor import into nucleus; positive regulation of transcription from RNA polymerase II promoter; regulation of interferon type I production

Disease: Sting-associated Vasculopathy, Infantile-onset