Version 5.4
Homo sapiens Gene: IL12RB1
Summary
InnateDB Gene IDBG-37559.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IL12RB1
Gene Name interleukin 12 receptor, beta 1
Synonyms CD212; IL-12R-BETA1; IL12RB; IMD30
Species Homo sapiens
Ensembl Gene ENSG00000096996
Encoded Proteins
IDBP-37563
interleukin 12 receptor, beta 1
IDBP-375791
interleukin 12 receptor, beta 1
IDBP-761237
IDBP-764733
IDBP-763347
IDBP-765535
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. The lack of expression of this gene was found to result in the immunodeficiency of patients with severe mycobacterial and Salmonella infections. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:18058995-18098944
Strand Reverse strand
Band p13.11
Transcripts
ENST00000322153 ENSP00000314425
ENST00000430026 ENSP00000403103
ENST00000593993 ENSP00000472165
ENST00000597416
ENST00000594176 ENSP00000473051
ENST00000600835 ENSP00000470788
ENST00000598019 ENSP00000468831
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:0019955 cytokine binding
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:0018108 peptidyl-tyrosine phosphorylation
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
Cellular Component
GO:0009897 external side of plasma membrane
GO:0042022 interleukin-12 receptor complex
GO:0072536 interleukin-23 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000791
View Gene Order
ENSBTAG00000011481
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04060
Cytokine-cytokine receptor interaction pathway
hsa04630
Jak-STAT signaling pathway pathway
INOH
INOH website
JAK STAT pathway and regulation pathway
INOH website
IL-12 signaling pathway
INOH website
IL-23 signaling pathway
PID NCI
il27pathway
IL27-mediated signaling events
il12_2pathway
IL12-mediated signaling events
il23pathway
IL23-mediated signaling events
Cross-References
SwissProt
TrEMBL X6RGM1
UniProt Splice Variant
Entrez Gene 3594
UniGene Hs.567294 Hs.735696
RefSeq NM_001290023 NM_001290024 NM_005535 NM_153701 XM_006722741
HUGO HGNC:5971
OMIM 601604
CCDS CCDS32957 CCDS54232
HPRD 03363
IMGT
EMBL AC020904
GenPept
RNA Seq Atlas 3594

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca