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Protein

Interleukin-21 receptor

Gene

IL21R

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

Functioni

This is a receptor for interleukin-21.

GO - Molecular functioni

  • interleukin-21 receptor activity Source: UniProtKB

GO - Biological processi

  • natural killer cell activation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000103522-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:6006. IL21R.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
Complete GO annotation...

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 rs397514685dbSNPEnsembl.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...)1 Publication1
Glycosylationi97N-linked (GlcNAc...)Sequence analysis1
Glycosylationi104N-linked (GlcNAc...)Sequence analysis1
Glycosylationi125N-linked (GlcNAc...)Sequence analysis1
Glycosylationi135N-linked (GlcNAc...)Sequence analysis1
Glycosylationi214C-linked (Man)1 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.

PTM databases

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.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3TGXX-ray2.80A/C/E/G/I/K/M/O20-232[»]
4NZDX-ray2.75A/B/C20-232[»]
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

Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view]

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 → C.1 PublicationCorresponds to variant rs3093370dbSNPEnsembl.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 rs397514685dbSNPEnsembl.1
Natural variantiVAR_014361318S → R.1 PublicationCorresponds to variant rs3093385dbSNPEnsembl.1
Natural variantiVAR_014362484G → S.1 PublicationCorresponds to variant rs3093386dbSNPEnsembl.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

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.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3TGXX-ray2.80A/C/E/G/I/K/M/O20-232[»]
4NZDX-ray2.75A/B/C20-232[»]
ProteinModelPortaliQ9HBE5.
SMRiQ9HBE5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119095. 2 interactors.
STRINGi9606.ENSP00000338010.

PTM databases

PhosphoSitePlusiQ9HBE5.

Polymorphism and mutation databases

BioMutaiIL21R.
DMDMi20454997.

Proteomic databases

MaxQBiQ9HBE5.
PaxDbiQ9HBE5.
PeptideAtlasiQ9HBE5.
PRIDEiQ9HBE5.

Protocols and materials databases

DNASUi50615.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi50615.
DisGeNETi50615.
GeneCardsiIL21R.
H-InvDBHIX0012914.
HGNCiHGNC:6006. IL21R.
HPAiHPA042296.
MalaCardsiIL21R.
MIMi605383. gene.
615207. phenotype.
neXtProtiNX_Q9HBE5.
OpenTargetsiENSG00000103522.
Orphaneti357329. Cryptosporidiosis - chronic cholangitis - liver disease.
PharmGKBiPA29821.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000103522-MONOMER.
SignaLinkiQ9HBE5.
SIGNORiQ9HBE5.

Miscellaneous databases

GeneWikiiInterleukin-21_receptor.
GenomeRNAii50615.
PROiQ9HBE5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103522.
CleanExiHS_IL21R.
GenevisibleiQ9HBE5. HS.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIL21R_HUMAN
AccessioniPrimary (citable) accession number: Q9HBE5
Secondary accession number(s): A8K9E8
, D3DWF7, Q96HZ1, Q9HB91
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 151 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

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

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.