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UniProtKB - Q9HBE5 (IL21R_HUMAN)

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Protein

Interleukin-21 receptor

Gene

IL21R

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

Functioni

This is a receptor for interleukin-21.

GO - Molecular functioni

  • interleukin-21 receptor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • interleukin-21-mediated signaling pathway Source: Reactome
  • natural killer cell activation Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

ReactomeiR-HSA-9020958 Interleukin-21 signaling
SignaLinkiQ9HBE5
SIGNORiQ9HBE5

Names & Taxonomyi

Protein namesi
Recommended name:
Interleukin-21 receptor
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103522.15
HGNCiHGNC:6006 IL21R
MIMi605383 gene
neXtProtiNX_Q9HBE5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 232ExtracellularSequence analysisAdd BLAST213
Transmembranei233 – 253HelicalSequence analysisAdd BLAST21
Topological domaini254 – 538CytoplasmicSequence analysisAdd BLAST285

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

IL21R immunodeficiency (IL21RID)1 Publication
The disease is caused by mutations 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.
See also OMIM:615207
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06989881 – 82Missing in IL21RID; loss of function mutation. 1 Publication2
Natural variantiVAR_069899201R → L in IL21RID; 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:rs397514685Ensembl.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 mutation

Organism-specific databases

DisGeNETi50615
MalaCardsiIL21R
MIMi615207 phenotype
OpenTargetsiENSG00000103522
Orphaneti357329 Cryptosporidiosis - chronic cholangitis - liver disease
PharmGKBiPA29821

Polymorphism and mutation databases

BioMutaiIL21R
DMDMi20454997

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 191 PublicationAdd BLAST19
ChainiPRO_000001088120 – 538Interleukin-21 receptorAdd BLAST519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi20 ↔ 1091 Publication
Disulfide bondi25 ↔ 351 Publication
Disulfide bondi65 ↔ 811 Publication
Glycosylationi73N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi104N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi125N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi214C-linked (Man) tryptophan1 Publication1

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, Glycoprotein

Proteomic databases

MaxQBiQ9HBE5
PaxDbiQ9HBE5
PeptideAtlasiQ9HBE5
PRIDEiQ9HBE5
ProteomicsDBi81535

PTM databases

iPTMnetiQ9HBE5
PhosphoSitePlusiQ9HBE5

Expressioni

Tissue specificityi

Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.

Gene expression databases

BgeeiENSG00000103522
CleanExiHS_IL21R
GenevisibleiQ9HBE5 HS

Organism-specific databases

HPAiHPA042296

Interactioni

Subunit structurei

Heterodimer with the common gamma subunit. Associates with JAK1.1 Publication

Protein-protein interaction databases

BioGridi119095, 2 interactors
IntActiQ9HBE5, 1 interactor
STRINGi9606.ENSP00000338010

Structurei

Secondary structure

1538
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi22 – 27Combined sources6
Beta strandi29 – 31Combined sources3
Beta strandi33 – 38Combined sources6
Beta strandi40 – 43Combined sources4
Beta strandi46 – 51Combined sources6
Beta strandi68 – 72Combined sources5
Beta strandi77 – 80Combined sources4
Helixi85 – 87Combined sources3
Beta strandi93 – 99Combined sources7
Beta strandi106 – 113Combined sources8
Helixi114 – 116Combined sources3
Beta strandi124 – 139Combined sources16
Helixi141 – 143Combined sources3
Turni149 – 153Combined sources5
Beta strandi154 – 162Combined sources9
Beta strandi172 – 176Combined sources5
Beta strandi181 – 185Combined sources5
Helixi187 – 189Combined sources3
Beta strandi195 – 204Combined sources10
Turni206 – 209Combined sources4
Beta strandi221 – 224Combined sources4

3D structure databases

ProteinModelPortaliQ9HBE5
SMRiQ9HBE5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini21 – 118Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST98
Domaini119 – 228Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST110

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi214 – 218WSXWS motif5
Motifi266 – 274Box 1 motif9

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

Belongs to the type I cytokine receptor family. Type 4 subfamily.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEDJ Eukaryota
ENOG41128NP LUCA
GeneTreeiENSGT00510000048783
HOGENOMiHOG000013192
HOVERGENiHBG052105
InParanoidiQ9HBE5
KOiK05075
OMAiFKKWVGA
OrthoDBiEOG091G0374
PhylomeDBiQ9HBE5
TreeFamiTF337874

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR003531 Hempt_rcpt_S_F1_CS
IPR013783 Ig-like_fold
SUPFAMiSSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS01355 HEMATOPO_REC_S_F1, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9HBE5-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:538
Mass (Da):59,130
Last modified:March 1, 2001 - v1
Checksum:i414079CCB974850A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti386G → R in AAG23419 (PubMed:11016959).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06989881 – 82Missing in IL21RID; loss of function mutation. 1 Publication2
Natural variantiVAR_014360191R → C1 PublicationCorresponds to variant dbSNP:rs3093370Ensembl.1
Natural variantiVAR_069899201R → L in IL21RID; 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:rs397514685Ensembl.1
Natural variantiVAR_014361318S → R1 PublicationCorresponds to variant dbSNP:rs3093385EnsemblClinVar.1
Natural variantiVAR_014362484G → 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
CCDSiCCDS10630.1
RefSeqiNP_068570.1, NM_021798.3
NP_851564.1, NM_181078.2
NP_851565.4, NM_181079.4
XP_016878746.1, XM_017023257.1
UniGeneiHs.210546

Genome annotation databases

EnsembliENST00000337929; ENSP00000338010; ENSG00000103522
ENST00000395754; ENSP00000379103; ENSG00000103522
ENST00000564089; ENSP00000456707; ENSG00000103522
GeneIDi50615
KEGGihsa:50615
UCSCiuc002doq.2 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiIL21R_HUMAN
AccessioniPrimary (citable) accession number: Q9HBE5
Secondary accession number(s): A8K9E8
, D3DWF7, Q96HZ1, Q9HB91
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: March 1, 2001
Last modified: July 18, 2018
This is version 161 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 16
    Human chromosome 16: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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