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CD212; interleukin-12 (IL-12) receptor beta-1 chain; IL-12R-beta1; interleukin-12 receptor beta; IL-12 receptor beta component; IL-12RB1 (IL12RB1, IL12R, IL12RB)
Function:
- low affinity interleukin-12 receptor
- associates with IL12RB2 to form a functional, high affinity IL-12 receptor
- involved in IL-12 signal transduction
- associates with IL23R in presence of IL23 to form the IL-23 receptor
Structure:
- dimer or oligomer; disulfide-linked
- the WSXWS motif appears to be necessary for proper protein folding, efficient intracellular transport & cell-surface receptor binding
- the box 1 motif is required for JAK interaction &/or activation
- belongs to the type I cytokine receptor family, type 2 subfamily
- contains 5 fibronectin F3 modules
Compartment: membrane
Alternative splicing: named isoforms=2
Pathology:
- defects in IL12RB1 are a cause of Mendelian susceptibility to mycobacterial disease
General
cluster-of-differentiation antigen; cluster designation antigen; CD antigen
glycoprotein
protein subunit
Properties
SIZE: entity length = 662 aa
MW = 73 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-23}
fibronectin type III domain or F3 module {43-133}
MOTIF: cysteine residue {C52}
MODIFICATION: cysteine residue {C62}
cysteine residue {C62}
MODIFICATION: cysteine residue {C52}
N-glycosylation site {N121}
fibronectin type III domain or F3 module {143-236}
MOTIF: WSXWS motif {222-226}
fibronectin type III domain or F3 module {237-337}
MOTIF: N-glycosylation site {N329}
fibronectin type III domain or F3 module {338-444}
MOTIF: N-glycosylation site {N346}
N-glycosylation site {N352}
N-glycosylation site {N442}
fibronectin type III domain or F3 module {445-539}
MOTIF: N-glycosylation site {N456}
transmembrane domain {546-570}
box1 motif
SITE: 577-585
FOR-BINDING-OF: Janus kinase (JAK)
Database Correlations
OMIM correlations
MORBIDMAP 601604
UniProt P42701
Pfam PF00041
Entrez Gene 3594
Kegg hsa:3594
References
- UniProt :accession P42701
- IL12RB1base; Note: IL12RB1 mutation db
http://bioinf.uta.fi/IL12RB1base/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB1
- SeattleSNPs
http://pga.gs.washington.edu/data/il12rb1/
- Altare F et al
Impairment of mycobacterial immunity in human interleukin-12
receptor deficiency.
Science. 1998 May 29;280(5368):1432-5.
PMID: 9603732
- de Jong R et al
Severe mycobacterial and Salmonella infections in
interleukin-12 receptor-deficient patients.
Science. 1998 May 29;280(5368):1435-8.
PMID: 9603733
Component-of
interleukin-12 receptor