NP_005526.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
42,366 Da
NCBI Official Full Name
interleukin-12 receptor subunit beta-1 isoform 1
NCBI Official Synonym Full Names
interleukin 12 receptor subunit beta 1
NCBI Official Synonym Symbols
CD212; IMD30; IL12RB; IL-12R-BETA1 [Similar Products]
NCBI Protein Information
interleukin-12 receptor subunit beta-1
UniProt Protein Name
Interleukin-12 receptor subunit beta-1
UniProt Synonym Protein Names
IL-12 receptor beta component; CD_antigen: CD212
UniProt Synonym Gene Names
IL12R; IL12RB; IL-12 receptor subunit beta-1; IL-12R subunit beta-1; IL-12R-beta-1; IL-12RB1 [Similar Products]
UniProt Entry Name
I12R1_HUMAN
NCBI Summary for 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]
UniProt Comments for IL12RB1
IL12RB1: 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. Defects in IL12RB1 are a cause of mendelian susceptibility to mycobacterial disease (MSMD); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and 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. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. 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. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Belongs to the type I cytokine receptor family. Type 2 subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Receptor, cytokine
Chromosomal Location of Human Ortholog: 19p13.1
Cellular Component: plasma membrane
Molecular Function: hematopoietin/interferon-class (D200-domain) cytokine receptor activity; interleukin-12 receptor activity; interleukin-12 receptor binding; interleukin-23 binding; interleukin-23 receptor activity
Biological Process: cytokine and chemokine mediated signaling pathway; positive regulation of activated T cell proliferation; positive regulation of defense response to virus by host; positive regulation of interferon-gamma production; positive regulation of memory T cell differentiation; positive regulation of T cell mediated cytotoxicity; positive regulation of T-helper 1 type immune response; signal transduction
Disease: Immunodeficiency 30
Research Articles on IL12RB1
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Pathways associated with IL12RB1 blocking peptide
Diseases associated with IL12RB1 blocking peptide
Organs/Tissues associated with IL12RB1 blocking peptide
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