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Q9HBE5

- IL21R_HUMAN

UniProt

Q9HBE5 - IL21R_HUMAN

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Protein

Interleukin-21 receptor

Gene

IL21R

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

Functioni

This is a receptor for interleukin-21.

GO - Molecular functioni

  1. interleukin-21 receptor activity Source: UniProtKB

GO - Biological processi

  1. interleukin-21-mediated signaling pathway Source: GOC
  2. natural killer cell activation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

SignaLinkiQ9HBE5.

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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:6006. IL21R.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

IL21R immunodeficiency (IL21RID) [MIM:615207]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti81 – 822Missing in IL21RID; loss of function mutation. 1 Publication
VAR_069898
Natural varianti201 – 2011R → 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 Publication
VAR_069899
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

MIMi615207. phenotype.
Orphaneti357329. Cryptosporidiosis - chronic cholangitis - liver disease.
PharmGKBiPA29821.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 19191 PublicationAdd
BLAST
Chaini20 – 538519Interleukin-21 receptorPRO_0000010881Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi20 ↔ 1091 Publication
Disulfide bondi25 ↔ 351 Publication
Disulfide bondi65 ↔ 811 Publication
Glycosylationi73 – 731N-linked (GlcNAc...)1 Publication
Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
Glycosylationi104 – 1041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi125 – 1251N-linked (GlcNAc...)Sequence Analysis
Glycosylationi135 – 1351N-linked (GlcNAc...)Sequence Analysis
Glycosylationi214 – 2141C-linked (Man)

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.
PRIDEiQ9HBE5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9HBE5.
CleanExiHS_IL21R.
GenevestigatoriQ9HBE5.

Organism-specific databases

HPAiHPA042296.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi119095. 4 interactions.
STRINGi9606.ENSP00000338010.

Structurei

Secondary structure

1
538
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi23 – 275
Beta strandi29 – 3810
Beta strandi40 – 434
Beta strandi46 – 516
Beta strandi64 – 729
Beta strandi74 – 829
Helixi85 – 873
Beta strandi93 – 997
Beta strandi106 – 1138
Helixi114 – 1163
Beta strandi124 – 13916
Helixi141 – 1433
Helixi145 – 1506
Beta strandi153 – 16210
Beta strandi172 – 1765
Beta strandi181 – 1855
Beta strandi195 – 20410
Beta strandi221 – 2244

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3TGXX-ray2.80A/C/E/G/I/K/M/O20-232[»]
ProteinModelPortaliQ9HBE5.
SMRiQ9HBE5. Positions 20-228.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini20 – 232213ExtracellularSequence AnalysisAdd
BLAST
Topological domaini254 – 538285CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei233 – 25321HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini21 – 11898Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini119 – 228110Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi214 – 2185WSXWS motif
Motifi266 – 2749Box 1 motif

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

eggNOGiNOG40447.
GeneTreeiENSGT00510000048783.
HOGENOMiHOG000013192.
HOVERGENiHBG052105.
InParanoidiQ9HBE5.
KOiK05075.
OMAiRDRPYGL.
OrthoDBiEOG767398.
PhylomeDBiQ9HBE5.
TreeFamiTF337874.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. Fibronectin_type3.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti386 – 3861G → R in AAG23419. (PubMed:11016959)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti81 – 822Missing in IL21RID; loss of function mutation. 1 Publication
VAR_069898
Natural varianti191 – 1911R → C.1 Publication
Corresponds to variant rs3093370 [ dbSNP | Ensembl ].
VAR_014360
Natural varianti201 – 2011R → 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 Publication
VAR_069899
Natural varianti318 – 3181S → R.1 Publication
Corresponds to variant rs3093385 [ dbSNP | Ensembl ].
VAR_014361
Natural varianti484 – 4841G → S.1 Publication
Corresponds to variant rs3093386 [ dbSNP | Ensembl ].
VAR_014362

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGeneiHs.210546.

Genome annotation databases

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

Polymorphism databases

DMDMi20454997.

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:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.210546.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3TGX X-ray 2.80 A/C/E/G/I/K/M/O 20-232 [» ]
ProteinModelPortali Q9HBE5.
SMRi Q9HBE5. Positions 20-228.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119095. 4 interactions.
STRINGi 9606.ENSP00000338010.

Polymorphism databases

DMDMi 20454997.

Proteomic databases

MaxQBi Q9HBE5.
PaxDbi Q9HBE5.
PRIDEi Q9HBE5.

Protocols and materials databases

DNASUi 50615.
Structural Biology Knowledgebase Search...

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.
GeneCardsi GC16P027413.
H-InvDB HIX0012914.
HGNCi HGNC:6006. IL21R.
HPAi HPA042296.
MIMi 605383. gene.
615207. phenotype.
neXtProti NX_Q9HBE5.
Orphaneti 357329. Cryptosporidiosis - chronic cholangitis - liver disease.
PharmGKBi PA29821.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40447.
GeneTreei ENSGT00510000048783.
HOGENOMi HOG000013192.
HOVERGENi HBG052105.
InParanoidi Q9HBE5.
KOi K05075.
OMAi RDRPYGL.
OrthoDBi EOG767398.
PhylomeDBi Q9HBE5.
TreeFami TF337874.

Enzyme and pathway databases

SignaLinki Q9HBE5.

Miscellaneous databases

GeneWikii Interleukin-21_receptor.
GenomeRNAii 50615.
NextBioi 53120.
PROi Q9HBE5.
SOURCEi Search...

Gene expression databases

Bgeei Q9HBE5.
CleanExi HS_IL21R.
Genevestigatori Q9HBE5.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR003961. Fibronectin_type3.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view ]
SMARTi SM00060. FN3. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
PROSITEi PS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Cloning of a type I cytokine receptor most related to the IL-2 receptor beta chain."
    Ozaki K., Kikly K., Michalovich D., Young P.R., Leonard W.J.
    Proc. Natl. Acad. Sci. U.S.A. 97:11439-11444(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. SeattleSNPs variation discovery resource
    Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-191; ARG-318 AND SER-484.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thymus.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: B-cell and Lymph.
  8. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 20-34.
  9. "The gene for interleukin-21 receptor is the partner of BCL6 in t(3;16)(q27;p11), which is recurrently observed in diffuse large B-cell lymphoma."
    Ueda C., Akasaka T., Kurata M., Maesako Y., Nishikori M., Ichinohasama R., Imada K., Uchiyama T., Ohno H.
    Oncogene 21:368-376(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN B-CELL NON-HODGKIN LYMPHOMA, CHROMOSOMAL TRANSLOCATION WITH BCL6.
  10. "Crystal structure of interleukin-21 receptor (IL-21R) bound to IL-21 reveals that sugar chain interacting with WSXWS motif is integral part of IL-21R."
    Hamming O.J., Kang L., Svensson A., Karlsen J.L., Rahbek-Nielsen H., Paludan S.R., Hjorth S.A., Bondensgaard K., Hartmann R.
    J. Biol. Chem. 287:9454-9460(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 20-232 IN COMPLEX WITH IL21, DOMAIN WSXWS MOTIF, GLYCOSYLATION AT ASN-73 AND TRP-214, DOMAINS FIBRONECTIN, DISULFIDE BONDS.
  11. Cited for: VARIANTS IL21RID 81-CYS-HIS-82 DEL AND LEU-201, CHARACTERIZATION VARIANT IL21RID LEU-201.

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: October 29, 2014
This is version 131 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

External Data

Dasty 3