TMEFF1

Function

Neuron-specific restriction factor that prevents herpes simplex virus 1 (HHV-1) infection in the brain by blocking viral entry (PubMed:39048823, PubMed:39048830). Also able to restrict herpes simplex virus 2 (HHV-2) infection, although to a lesser extent (PubMed:39048823). Acts by preventing the association between the viral glycoprotein D (gD) and its cell surface receptor NECTIN1, thereby inhibiting fusion of the virus and the cell membrane (PubMed:39048823, PubMed:39048830). Also able to prevent the association between the viral glycoprotein B (gB) and MYH9/NMMHC-IIA and MYH10/NMMHC-IIB receptors (PubMed:39048823). May be a tumor suppressor in brain cancers (PubMed:12743596).

Involvement in disease

Encephalopathy, acute, infection-induced, herpes-specific (IIAE) (PubMed:39048830). A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals (PubMed:39048830). It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes (PubMed:39048830). Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome (PubMed:39048830). Disease susceptibility is associated with variants affecting the gene represented in this entry (PubMed:39048830).

Sequence Similarities

Belongs to the tomoregulin family.

Tissue Specificity

Expressed predominantly in brain, and at lower levels in heart, placenta and skeletal muscle (PubMed:12743596). Down-regulated in brain tumors as compared to control brain tissues (PubMed:12743596).

Cellular localization

• Cell membrane
• Single-pass type I membrane protein

Alternative names

C9orf2, TMEFF1, Tomoregulin-1, TR-1, H7365, Transmembrane protein with EGF-like and one follistatin-like domain

Database links

swissprot:Q8IYR6 omim:603421 entrezGene:8577 entrezGene:100526694