InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IL12RB1

Summary

InnateDB Protein

IDBP-37563.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IL12RB1

Protein Name

interleukin 12 receptor, beta 1

Synonyms

CD212; IL-12R-BETA1; IL12RB; IMD30;

Species

Homo sapiens

Ensembl Protein

ENSP00000314425

InnateDB Gene

IDBG-37559 (IL12RB1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12023369}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: 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. {ECO:0000269PubMed:11424023}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004896	cytokine receptor activity
GO:0005143	interleukin-12 receptor binding
GO:0005515	protein binding
GO:0016517	interleukin-12 receptor activity
GO:0042019	interleukin-23 binding
GO:0042020	interleukin-23 receptor activity

Biological Process

GO:0001916	positive regulation of T cell mediated cytotoxicity
GO:0002230	positive regulation of defense response to virus by host
GO:0002827	positive regulation of T-helper 1 type immune response
GO:0007165	signal transduction
GO:0019221	cytokine-mediated signaling pathway
GO:0032729	positive regulation of interferon-gamma production
GO:0035722	interleukin-12-mediated signaling pathway
GO:0038155	interleukin-23-mediated signaling pathway
GO:0042104	positive regulation of activated T cell proliferation
GO:0043382	positive regulation of memory T cell differentiation
GO:0071346	cellular response to interferon-gamma
GO:2000318	positive regulation of T-helper 17 type immune response
GO:2000330	positive regulation of T-helper 17 cell lineage commitment