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Protein

Interleukin-12 receptor subunit beta-1

Gene

IL12RB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • cytokine receptor activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000096996-MONOMER.
ReactomeiR-HSA-447115. Interleukin-12 signaling.
R-HSA-449147. Signaling by Interleukins.
SignaLinkiP42701.
SIGNORiP42701.

Names & Taxonomyi

Protein namesi
Recommended name:
Interleukin-12 receptor subunit beta-1
Short name:
IL-12 receptor subunit beta-1
Short name:
IL-12R subunit beta-1
Short name:
IL-12R-beta-1
Short name:
IL-12RB1
Alternative name(s):
IL-12 receptor beta component
CD_antigen: CD212
Gene namesi
Name:IL12RB1
Synonyms:IL12R, IL12RB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:5971. IL12RB1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 545ExtracellularSequence analysisAdd BLAST522
Transmembranei546 – 570HelicalSequence analysisAdd BLAST25
Topological domaini571 – 662CytoplasmicSequence analysisAdd BLAST92

GO - Cellular componenti

  • external side of plasma membrane Source: Ensembl
  • interleukin-12 receptor complex Source: BHF-UCL
  • interleukin-23 receptor complex Source: BHF-UCL
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 30 (IMD30)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614891
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015577213R → W in IMD30. 1 PublicationCorresponds to variant rs121434494dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3594.
MalaCardsiIL12RB1.
MIMi614891. phenotype.
OpenTargetsiENSG00000096996.
Orphaneti319552. Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency.
186. Primary biliary cirrhosis.
PharmGKBiPA29786.

Polymorphism and mutation databases

BioMutaiIL12RB1.
DMDMi1170462.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000001091724 – 662Interleukin-12 receptor subunit beta-1Add BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi52 ↔ 62By similarity
Glycosylationi121N-linked (GlcNAc...)Sequence analysis1
Glycosylationi329N-linked (GlcNAc...)Sequence analysis1
Glycosylationi346N-linked (GlcNAc...)Sequence analysis1
Glycosylationi352N-linked (GlcNAc...)Sequence analysis1
Glycosylationi442N-linked (GlcNAc...)Sequence analysis1
Glycosylationi456N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP42701.
PaxDbiP42701.
PeptideAtlasiP42701.
PRIDEiP42701.

PTM databases

iPTMnetiP42701.
PhosphoSitePlusiP42701.

Expressioni

Gene expression databases

BgeeiENSG00000096996.
CleanExiHS_IL12RB1.
ExpressionAtlasiP42701. baseline and differential.
GenevisibleiP42701. HS.

Interactioni

Subunit structurei

Dimer or oligomer; disulfide-linked. Interacts with IL12RB2 to form the high affinity IL12 receptor. Heterodimer with IL23R; in presence of IL23. The heterodimer forms the IL23 receptor.2 Publications

Protein-protein interaction databases

BioGridi109808. 18 interactors.
DIPiDIP-3773N.
IntActiP42701. 5 interactors.
STRINGi9606.ENSP00000403103.

Structurei

3D structure databases

ProteinModelPortaliP42701.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 136Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST91
Domaini142 – 234Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST93
Domaini237 – 337Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST101
Domaini338 – 444Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST107
Domaini448 – 542Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST95

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi222 – 226WSXWS motif5
Motifi577 – 585Box 1 motif9

Domaini

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
The box 1 motif is required for JAK interaction and/or activation.

Sequence similaritiesi

Contains 5 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJY4. Eukaryota.
ENOG410YV8S. LUCA.
GeneTreeiENSGT00390000012431.
HOGENOMiHOG000082476.
HOVERGENiHBG052058.
InParanoidiP42701.
KOiK05063.
OMAiKEYVVRC.
OrthoDBiEOG091G052Z.
PhylomeDBiP42701.
TreeFamiTF338613.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 2 hits.
InterProiIPR003961. FN3_dom.
IPR003529. Hematopoietin_rcpt_Gp130_CS.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 3 hits.
PS01353. HEMATOPO_REC_L_F2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P42701-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEPLVTWVVP LLFLFLLSRQ GAACRTSECC FQDPPYPDAD SGSASGPRDL
60 70 80 90 100
RCYRISSDRY ECSWQYEGPT AGVSHFLRCC LSSGRCCYFA AGSATRLQFS
110 120 130 140 150
DQAGVSVLYT VTLWVESWAR NQTEKSPEVT LQLYNSVKYE PPLGDIKVSK
160 170 180 190 200
LAGQLRMEWE TPDNQVGAEV QFRHRTPSSP WKLGDCGPQD DDTESCLCPL
210 220 230 240 250
EMNVAQEFQL RRRQLGSQGS SWSKWSSPVC VPPENPPQPQ VRFSVEQLGQ
260 270 280 290 300
DGRRRLTLKE QPTQLELPEG CQGLAPGTEV TYRLQLHMLS CPCKAKATRT
310 320 330 340 350
LHLGKMPYLS GAAYNVAVIS SNQFGPGLNQ TWHIPADTHT EPVALNISVG
360 370 380 390 400
TNGTTMYWPA RAQSMTYCIE WQPVGQDGGL ATCSLTAPQD PDPAGMATYS
410 420 430 440 450
WSRESGAMGQ EKCYYITIFA SAHPEKLTLW STVLSTYHFG GNASAAGTPH
460 470 480 490 500
HVSVKNHSLD SVSVDWAPSL LSTCPGVLKE YVVRCRDEDS KQVSEHPVQP
510 520 530 540 550
TETQVTLSGL RAGVAYTVQV RADTAWLRGV WSQPQRFSIE VQVSDWLIFF
560 570 580 590 600
ASLGSFLSIL LVGVLGYLGL NRAARHLCPP LPTPCASSAI EFPGGKETWQ
610 620 630 640 650
WINPVDFQEE ASLQEALVVE MSWDKGERTE PLEKTELPEG APELALDTEL
660
SLEDGDRCKA KM
Length:662
Mass (Da):73,109
Last modified:November 1, 1995 - v1
Checksum:i541ADA60F62DA1EF
GO
Isoform 2 (identifier: P42701-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     659-662: KAKM → DR

Show »
Length:660
Mass (Da):72,921
Checksum:i93B9662DA1EF27F0
GO
Isoform 3 (identifier: P42701-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-422: EPVALNISVG...CYYITIFASA → DGMISAHCNL...CHHTRLILYF
     423-662: Missing.

Show »
Length:381
Mass (Da):42,366
Checksum:i49C915FAD4B667BC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0212813P → Q.1 PublicationCorresponds to variant rs17884651dbSNPEnsembl.1
Natural variantiVAR_02128247P → S.1 PublicationCorresponds to variant rs17887176dbSNPEnsembl.1
Natural variantiVAR_021283156R → H.1 PublicationCorresponds to variant rs11575926dbSNPEnsembl.1
Natural variantiVAR_015577213R → W in IMD30. 1 PublicationCorresponds to variant rs121434494dbSNPEnsembl.1
Natural variantiVAR_021284214Q → R.2 PublicationsCorresponds to variant rs11575934dbSNPEnsembl.1
Natural variantiVAR_021285339H → Q.1 PublicationCorresponds to variant rs17884957dbSNPEnsembl.1
Natural variantiVAR_011986365M → T.1 PublicationCorresponds to variant rs375947dbSNPEnsembl.1
Natural variantiVAR_011987378G → R.1 PublicationCorresponds to variant rs401502dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037043341 – 422EPVAL…IFASA → DGMISAHCNLRLPDSRDSPA SASRVAGITGICHHTRLILY F in isoform 3. 2 PublicationsAdd BLAST82
Alternative sequenceiVSP_037044423 – 662Missing in isoform 3. 2 PublicationsAdd BLAST240
Alternative sequenceiVSP_001715659 – 662KAKM → DR in isoform 2. 2 Publications4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03187 mRNA. Translation: AAA21340.1.
AJ297688
, AJ297689, AJ297690, AJ297691, AJ297692, AJ297693, AJ297694, AJ297695, AJ297696, AJ297697, AJ297698, AJ297699, AJ297700, AJ297701 Genomic DNA. Translation: CAC10446.1.
AY771996 Genomic DNA. Translation: AAV28734.1.
AK290423 mRNA. Translation: BAF83112.1.
AC020904 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84656.1.
BC029121 mRNA. Translation: AAH29121.1.
BC137404 mRNA. Translation: AAI37405.1.
BC137406 mRNA. Translation: AAI37407.1.
CCDSiCCDS32957.1. [P42701-3]
CCDS54232.1. [P42701-1]
PIRiI37892.
RefSeqiNP_001276952.1. NM_001290023.1. [P42701-2]
NP_005526.1. NM_005535.2. [P42701-1]
NP_714912.1. NM_153701.2. [P42701-3]
UniGeneiHs.567294.

Genome annotation databases

EnsembliENST00000322153; ENSP00000314425; ENSG00000096996. [P42701-3]
ENST00000593993; ENSP00000472165; ENSG00000096996. [P42701-1]
ENST00000600835; ENSP00000470788; ENSG00000096996. [P42701-1]
GeneIDi3594.
KEGGihsa:3594.
UCSCiuc002nhw.2. human. [P42701-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

IL12RB1base

IL12RB1 mutation db

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03187 mRNA. Translation: AAA21340.1.
AJ297688
, AJ297689, AJ297690, AJ297691, AJ297692, AJ297693, AJ297694, AJ297695, AJ297696, AJ297697, AJ297698, AJ297699, AJ297700, AJ297701 Genomic DNA. Translation: CAC10446.1.
AY771996 Genomic DNA. Translation: AAV28734.1.
AK290423 mRNA. Translation: BAF83112.1.
AC020904 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84656.1.
BC029121 mRNA. Translation: AAH29121.1.
BC137404 mRNA. Translation: AAI37405.1.
BC137406 mRNA. Translation: AAI37407.1.
CCDSiCCDS32957.1. [P42701-3]
CCDS54232.1. [P42701-1]
PIRiI37892.
RefSeqiNP_001276952.1. NM_001290023.1. [P42701-2]
NP_005526.1. NM_005535.2. [P42701-1]
NP_714912.1. NM_153701.2. [P42701-3]
UniGeneiHs.567294.

3D structure databases

ProteinModelPortaliP42701.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109808. 18 interactors.
DIPiDIP-3773N.
IntActiP42701. 5 interactors.
STRINGi9606.ENSP00000403103.

PTM databases

iPTMnetiP42701.
PhosphoSitePlusiP42701.

Polymorphism and mutation databases

BioMutaiIL12RB1.
DMDMi1170462.

Proteomic databases

MaxQBiP42701.
PaxDbiP42701.
PeptideAtlasiP42701.
PRIDEiP42701.

Protocols and materials databases

DNASUi3594.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322153; ENSP00000314425; ENSG00000096996. [P42701-3]
ENST00000593993; ENSP00000472165; ENSG00000096996. [P42701-1]
ENST00000600835; ENSP00000470788; ENSG00000096996. [P42701-1]
GeneIDi3594.
KEGGihsa:3594.
UCSCiuc002nhw.2. human. [P42701-1]

Organism-specific databases

CTDi3594.
DisGeNETi3594.
GeneCardsiIL12RB1.
HGNCiHGNC:5971. IL12RB1.
MalaCardsiIL12RB1.
MIMi601604. gene.
614891. phenotype.
neXtProtiNX_P42701.
OpenTargetsiENSG00000096996.
Orphaneti319552. Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency.
186. Primary biliary cirrhosis.
PharmGKBiPA29786.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJY4. Eukaryota.
ENOG410YV8S. LUCA.
GeneTreeiENSGT00390000012431.
HOGENOMiHOG000082476.
HOVERGENiHBG052058.
InParanoidiP42701.
KOiK05063.
OMAiKEYVVRC.
OrthoDBiEOG091G052Z.
PhylomeDBiP42701.
TreeFamiTF338613.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000096996-MONOMER.
ReactomeiR-HSA-447115. Interleukin-12 signaling.
R-HSA-449147. Signaling by Interleukins.
SignaLinkiP42701.
SIGNORiP42701.

Miscellaneous databases

GeneWikiiInterleukin_12_receptor,_beta_1_subunit.
GenomeRNAii3594.
PROiP42701.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000096996.
CleanExiHS_IL12RB1.
ExpressionAtlasiP42701. baseline and differential.
GenevisibleiP42701. HS.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 2 hits.
InterProiIPR003961. FN3_dom.
IPR003529. Hematopoietin_rcpt_Gp130_CS.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 3 hits.
PS01353. HEMATOPO_REC_L_F2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiI12R1_HUMAN
AccessioniPrimary (citable) accession number: P42701
Secondary accession number(s): A8K308
, B2RPF1, B7ZKK3, Q8N6Q7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: November 30, 2016
This is version 169 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.