IL12RB1

The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Interleukin 12 Receptor Subunit Beta 1

Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade.

Cellular response to interferon-gamma Source: BHF-UCL
Cytokine-mediated signaling pathway Source: GO_Central
Interleukin-12-mediated signaling pathway Source: GOC
Interleukin-23-mediated signaling pathway Source: GOC
Positive regulation of activated T cell proliferation Source: BHF-UCL
Positive regulation of defense response to virus by host Source: BHF-UCL
Positive regulation of interferon-gamma production Source: BHF-UCL
Positive regulation of memory T cell differentiation Source: BHF-UCL
Positive regulation of natural killer cell proliferation Source: ComplexPortal
Positive regulation of NK T cell proliferation Source: ComplexPortal
Positive regulation of receptor signaling pathway via JAK-STAT Source: ComplexPortal
Positive regulation of T cell mediated cytotoxicity Source: BHF-UCL
Positive regulation of T cell proliferation Source: ComplexPortal
Positive regulation of T-helper 17 cell lineage commitment Source: BHF-UCL
Positive regulation of T-helper 17 type immune response Source: BHF-UCL
Positive regulation of T-helper 1 type immune response Source: BHF-UCL
Signal transduction Source: BHF-UCL

Membrane

Immunodeficiency 30 (IMD30):
A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients.

Extracellular: 24-545
Helical: 546-570
Cytoplasmic: 571-662