UniProtKB - Q9HBE5 (IL21R_HUMAN)
Protein
Interleukin-21 receptor
Gene
IL21R
Organism
Homo sapiens (Human)
Status
Functioni
This is a receptor for interleukin-21.
GO - Molecular functioni
- cytokine receptor activity Source: MGI
- interleukin-21 receptor activity Source: UniProtKB
- transmembrane signaling receptor activity Source: MGI
GO - Biological processi
- interleukin-21-mediated signaling pathway Source: Reactome
- natural killer cell activation Source: UniProtKB
Keywordsi
Molecular function | Receptor |
Enzyme and pathway databases
PathwayCommonsi | Q9HBE5 |
Reactomei | R-HSA-9020958, Interleukin-21 signaling |
SignaLinki | Q9HBE5 |
SIGNORi | Q9HBE5 |
Names & Taxonomyi
Protein namesi | Recommended name: Interleukin-21 receptorShort name: IL-21 receptor Short name: IL-21R Alternative name(s): Novel interleukin receptor CD_antigen: CD360 |
Gene namesi | Name:IL21R Synonyms:NILR ORF Names:UNQ3121/PRO10273 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6006, IL21R |
MIMi | 605383, gene |
neXtProti | NX_Q9HBE5 |
VEuPathDBi | HostDB:ENSG00000103522.15 |
Subcellular locationi
Other locations
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 20 – 232 | ExtracellularSequence analysisAdd BLAST | 213 | |
Transmembranei | 233 – 253 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 254 – 538 | CytoplasmicSequence analysisAdd BLAST | 285 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Immunodeficiency 56 (IMD56)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069898 | 81 – 82 | Missing in IMD56; loss of function mutation. 1 Publication | 2 | |
Natural variantiVAR_069899 | 201 | R → L in IMD56; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs397514685EnsemblClinVar. | 1 |
Chromosomal aberrations involving IL21R is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 50615 |
MalaCardsi | IL21R |
MIMi | 615207, phenotype |
OpenTargetsi | ENSG00000103522 |
Orphaneti | 357329, Combined immunodeficiency due to IL21R deficiency |
PharmGKBi | PA29821 |
Miscellaneous databases
Pharosi | Q9HBE5, Tbio |
Genetic variation databases
BioMutai | IL21R |
DMDMi | 20454997 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | 1 PublicationAdd BLAST | 19 | |
ChainiPRO_0000010881 | 20 – 538 | Interleukin-21 receptorAdd BLAST | 519 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 20 ↔ 109 | 1 Publication | ||
Disulfide bondi | 25 ↔ 35 | 1 Publication | ||
Disulfide bondi | 65 ↔ 81 | 1 Publication | ||
Glycosylationi | 73 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 97 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 104 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 125 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 135 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 214 | C-linked (Man) tryptophan1 Publication | 1 |
Post-translational modificationi
C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame.
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q9HBE5 |
MaxQBi | Q9HBE5 |
PaxDbi | Q9HBE5 |
PeptideAtlasi | Q9HBE5 |
PRIDEi | Q9HBE5 |
ProteomicsDBi | 81535 |
PTM databases
GlyGeni | Q9HBE5, 6 sites |
iPTMneti | Q9HBE5 |
PhosphoSitePlusi | Q9HBE5 |
Expressioni
Tissue specificityi
Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.
Gene expression databases
Bgeei | ENSG00000103522, Expressed in prostate gland and 149 other tissues |
Genevisiblei | Q9HBE5, HS |
Organism-specific databases
HPAi | ENSG00000103522, Group enriched (blood, lymphoid tissue) |
Interactioni
Subunit structurei
Heterodimer with the common gamma subunit. Associates with JAK1.
1 PublicationBinary interactionsi
Q9HBE5
With | #Exp. | IntAct |
---|---|---|
AQP1 [P29972] | 3 | EBI-12558959,EBI-745213 |
Protein-protein interaction databases
BioGRIDi | 119095, 6 interactors |
IntActi | Q9HBE5, 1 interactor |
STRINGi | 9606.ENSP00000338010 |
Miscellaneous databases
RNActi | Q9HBE5, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9HBE5 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 21 – 118 | Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST | 98 | |
Domaini | 119 – 228 | Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST | 110 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 214 – 218 | WSXWS motif | 5 | |
Motifi | 266 – 274 | Box 1 motif | 9 |
Domaini
The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.1 Publication
The box 1 motif is required for JAK interaction and/or activation.1 Publication
Sequence similaritiesi
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S0QM, Eukaryota |
GeneTreei | ENSGT00510000048783 |
HOGENOMi | CLU_039739_0_0_1 |
InParanoidi | Q9HBE5 |
OMAi | QSEDGYP |
OrthoDBi | 774083at2759 |
PhylomeDBi | Q9HBE5 |
TreeFami | TF337874 |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf IPR003531, Hempt_rcpt_S_F1_CS IPR013783, Ig-like_fold |
SUPFAMi | SSF49265, SSF49265, 1 hit |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS01355, HEMATOPO_REC_S_F1, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9HBE5-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPRGWAAPLL LLLLQGGWGC PDLVCYTDYL QTVICILEMW NLHPSTLTLT
60 70 80 90 100
WQDQYEELKD EATSCSLHRS AHNATHATYT CHMDVFHFMA DDIFSVNITD
110 120 130 140 150
QSGNYSQECG SFLLAESIKP APPFNVTVTF SGQYNISWRS DYEDPAFYML
160 170 180 190 200
KGKLQYELQY RNRGDPWAVS PRRKLISVDS RSVSLLPLEF RKDSSYELQV
210 220 230 240 250
RAGPMPGSSY QGTWSEWSDP VIFQTQSEEL KEGWNPHLLL LLLLVIVFIP
260 270 280 290 300
AFWSLKTHPL WRLWKKIWAV PSPERFFMPL YKGCSGDFKK WVGAPFTGSS
310 320 330 340 350
LELGPWSPEV PSTLEVYSCH PPRSPAKRLQ LTELQEPAEL VESDGVPKPS
360 370 380 390 400
FWPTAQNSGG SAYSEERDRP YGLVSIDTVT VLDAEGPCTW PCSCEDDGYP
410 420 430 440 450
ALDLDAGLEP SPGLEDPLLD AGTTVLSCGC VSAGSPGLGG PLGSLLDRLK
460 470 480 490 500
PPLADGEDWA GGLPWGGRSP GGVSESEAGS PLAGLDMDTF DSGFVGSDCS
510 520 530
SPVECDFTSP GDEGPPRSYL RQWVVIPPPL SSPGPQAS
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 386 | G → R in AAG23419 (PubMed:11016959).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069898 | 81 – 82 | Missing in IMD56; loss of function mutation. 1 Publication | 2 | |
Natural variantiVAR_014360 | 191 | R → C1 PublicationCorresponds to variant dbSNP:rs3093370EnsemblClinVar. | 1 | |
Natural variantiVAR_069899 | 201 | R → L in IMD56; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs397514685EnsemblClinVar. | 1 | |
Natural variantiVAR_014361 | 318 | S → R1 PublicationCorresponds to variant dbSNP:rs3093385EnsemblClinVar. | 1 | |
Natural variantiVAR_014362 | 484 | G → S1 PublicationCorresponds to variant dbSNP:rs3093386EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF254067 mRNA Translation: AAG29346.1 AF269133 mRNA Translation: AAG23419.1 AY358826 mRNA Translation: AAQ89185.1 AY064474 Genomic DNA Translation: AAL39168.1 AK292663 mRNA Translation: BAF85352.1 CH471145 Genomic DNA Translation: EAW55746.1 CH471145 Genomic DNA Translation: EAW55747.1 CH471145 Genomic DNA Translation: EAW55748.1 BC004348 mRNA Translation: AAH04348.1 BC007946 mRNA Translation: AAH07946.2 |
CCDSi | CCDS10630.1 |
RefSeqi | NP_068570.1, NM_021798.3 NP_851564.1, NM_181078.2 NP_851565.4, NM_181079.4 XP_016878746.1, XM_017023257.1 |
Genome annotation databases
Ensembli | ENST00000337929; ENSP00000338010; ENSG00000103522 ENST00000395754; ENSP00000379103; ENSG00000103522 ENST00000564089; ENSP00000456707; ENSG00000103522 |
GeneIDi | 50615 |
KEGGi | hsa:50615 |
UCSCi | uc002doq.2, human |
Keywords - Coding sequence diversityi
Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
SeattleSNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF254067 mRNA Translation: AAG29346.1 AF269133 mRNA Translation: AAG23419.1 AY358826 mRNA Translation: AAQ89185.1 AY064474 Genomic DNA Translation: AAL39168.1 AK292663 mRNA Translation: BAF85352.1 CH471145 Genomic DNA Translation: EAW55746.1 CH471145 Genomic DNA Translation: EAW55747.1 CH471145 Genomic DNA Translation: EAW55748.1 BC004348 mRNA Translation: AAH04348.1 BC007946 mRNA Translation: AAH07946.2 |
CCDSi | CCDS10630.1 |
RefSeqi | NP_068570.1, NM_021798.3 NP_851564.1, NM_181078.2 NP_851565.4, NM_181079.4 XP_016878746.1, XM_017023257.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3TGX | X-ray | 2.80 | A/C/E/G/I/K/M/O | 20-232 | [»] | |
4NZD | X-ray | 2.75 | A/B/C | 20-232 | [»] | |
6PLH | X-ray | 1.60 | C | 202-232 | [»] | |
SMRi | Q9HBE5 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119095, 6 interactors |
IntActi | Q9HBE5, 1 interactor |
STRINGi | 9606.ENSP00000338010 |
PTM databases
GlyGeni | Q9HBE5, 6 sites |
iPTMneti | Q9HBE5 |
PhosphoSitePlusi | Q9HBE5 |
Genetic variation databases
BioMutai | IL21R |
DMDMi | 20454997 |
Proteomic databases
MassIVEi | Q9HBE5 |
MaxQBi | Q9HBE5 |
PaxDbi | Q9HBE5 |
PeptideAtlasi | Q9HBE5 |
PRIDEi | Q9HBE5 |
ProteomicsDBi | 81535 |
Protocols and materials databases
ABCDi | Q9HBE5, 59 sequenced antibodies |
Antibodypediai | 12828, 473 antibodies |
DNASUi | 50615 |
Genome annotation databases
Ensembli | ENST00000337929; ENSP00000338010; ENSG00000103522 ENST00000395754; ENSP00000379103; ENSG00000103522 ENST00000564089; ENSP00000456707; ENSG00000103522 |
GeneIDi | 50615 |
KEGGi | hsa:50615 |
UCSCi | uc002doq.2, human |
Organism-specific databases
CTDi | 50615 |
DisGeNETi | 50615 |
GeneCardsi | IL21R |
HGNCi | HGNC:6006, IL21R |
HPAi | ENSG00000103522, Group enriched (blood, lymphoid tissue) |
MalaCardsi | IL21R |
MIMi | 605383, gene 615207, phenotype |
neXtProti | NX_Q9HBE5 |
OpenTargetsi | ENSG00000103522 |
Orphaneti | 357329, Combined immunodeficiency due to IL21R deficiency |
PharmGKBi | PA29821 |
VEuPathDBi | HostDB:ENSG00000103522.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S0QM, Eukaryota |
GeneTreei | ENSGT00510000048783 |
HOGENOMi | CLU_039739_0_0_1 |
InParanoidi | Q9HBE5 |
OMAi | QSEDGYP |
OrthoDBi | 774083at2759 |
PhylomeDBi | Q9HBE5 |
TreeFami | TF337874 |
Enzyme and pathway databases
PathwayCommonsi | Q9HBE5 |
Reactomei | R-HSA-9020958, Interleukin-21 signaling |
SignaLinki | Q9HBE5 |
SIGNORi | Q9HBE5 |
Miscellaneous databases
BioGRID-ORCSi | 50615, 4 hits in 982 CRISPR screens |
ChiTaRSi | IL21R, human |
GeneWikii | Interleukin-21_receptor |
GenomeRNAii | 50615 |
Pharosi | Q9HBE5, Tbio |
PROi | PR:Q9HBE5 |
RNActi | Q9HBE5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000103522, Expressed in prostate gland and 149 other tissues |
Genevisiblei | Q9HBE5, HS |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf IPR003531, Hempt_rcpt_S_F1_CS IPR013783, Ig-like_fold |
SUPFAMi | SSF49265, SSF49265, 1 hit |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS01355, HEMATOPO_REC_S_F1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | IL21R_HUMAN | |
Accessioni | Q9HBE5Primary (citable) accession number: Q9HBE5 Secondary accession number(s): A8K9E8 Q9HB91 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2002 |
Last sequence update: | March 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 179 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human cell differentiation molecules
CD nomenclature of surface proteins of human leucocytes and list of entries - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families