Q5VWK5 (IL23R_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Interleukin-23 receptor Short name=IL-23 receptor Short name=IL-23R | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 629 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis. Ref.1 |
| Subunit structure | Heterodimer with IL12RB1. In presence of IL23, the heterodimer forms the IL23 receptor. Interacts with JAK2 and in presence of IL23 with STAT3. Ref.1 |
| Subcellular location | |
| Tissue specificity | Expressed by monocytes, Th1, Th0, NK and dendritic cells. Isoform 1 is specifically expressed in NK cells. Ref.1 Ref.2 |
| Post-translational modification | Phosphorylated in response to IL23. Ref.1 |
| Involvement in disease | Inflammatory bowel disease 17 (IBD17) [MIM:612261]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Psoriasis 7 (PSORS7) [MIM:605606]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. |
| Sequence similarities | Belongs to the type I cytokine receptor family. Type 2 subfamily. Contains 2 fibronectin type-III domains. |
| Sequence caution | The sequence AAH16829.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAH70408.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAI22679.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5VWK5-1) Also known as: IL-23R1; 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. | ||||||
| Isoform 2 (identifier: Q5VWK5-2) Also known as: IL-23R2-F2; The sequence of this isoform differs from the canonical sequence as follows: 1-254: Missing. | ||||||
| Note: Produced by translation in an alternate frame of the cDNA encoding isoform 4. No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q5VWK5-3) Also known as: IL-23R3-F1; The sequence of this isoform differs from the canonical sequence as follows: 349-356: DNRGDIGL → GLKEGSYC 357-629: Missing. | ||||||
| Note: Produced by translation in an alternate frame of the cDNA encoding isoform 5. No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q5VWK5-4) Also known as: IL-23R2-F1; The sequence of this isoform differs from the canonical sequence as follows: 165-174: LETEEEQQYL → DTFCSRHFQG 175-629: Missing. | ||||||
| Note: Produced by translation in an alternate frame of the cDNA encoding isoform 2. No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q5VWK5-5) Also known as: IL-23R3-F3; The sequence of this isoform differs from the canonical sequence as follows: 1-365: Missing. 366-383: MLSILSLIGIFNRSFRTG → MEFWANSCFHLYRAPYFW | ||||||
| Note: Produced by translation in an alternate frame of the cDNA encoding isoform 3. No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q5VWK5-6) Also known as: IL-23R6; The sequence of this isoform differs from the canonical sequence as follows: 1-255: Missing. 256-266: RYKATTNQTWN → MILRPYQPCGT | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q5VWK5-7) Also known as: IL-23R5; The sequence of this isoform differs from the canonical sequence as follows: 1-402: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 23 | 23 | Potential | ||||||
| Chain | 24 – 629 | 606 | Interleukin-23 receptor | PRO_0000268662 | |||||
Regions | |||||||||
| Topological domain | 24 – 355 | 332 | Extracellular Potential | ||||||
| Transmembrane | 356 – 376 | 21 | Helical; Potential | ||||||
| Topological domain | 377 – 629 | 253 | Cytoplasmic Potential | ||||||
| Domain | 124 – 214 | 91 | Fibronectin type-III 1 | ||||||
| Domain | 220 – 313 | 94 | Fibronectin type-III 2 | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 29 | 1 | N-linked (GlcNAc...); partial Ref.9 | ||||||
| Glycosylation | 47 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||
| Glycosylation | 81 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||
| Glycosylation | 141 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||
| Glycosylation | 180 | 1 | N-linked (GlcNAc...) (high mannose) Ref.9 | ||||||
| Glycosylation | 232 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||
| Glycosylation | 262 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||
| Glycosylation | 273 | 1 | N-linked (GlcNAc...); partial Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 402 | 402 | Missing in isoform 7. | VSP_021990 | |||||
| Alternative sequence | 1 – 365 | 365 | Missing in isoform 5. | VSP_021991 | |||||
| Alternative sequence | 1 – 255 | 255 | Missing in isoform 6. | VSP_021992 | |||||
| Alternative sequence | 1 – 254 | 254 | Missing in isoform 2. | VSP_021993 | |||||
| Alternative sequence | 165 – 174 | 10 | LETEEEQQYL → DTFCSRHFQG in isoform 4. | VSP_021994 | |||||
| Alternative sequence | 175 – 629 | 455 | Missing in isoform 4. | VSP_021995 | |||||
| Alternative sequence | 256 – 266 | 11 | RYKATTNQTWN → MILRPYQPCGT in isoform 6. | VSP_021996 | |||||
| Alternative sequence | 349 – 356 | 8 | DNRGDIGL → GLKEGSYC in isoform 3. | VSP_021997 | |||||
| Alternative sequence | 357 – 629 | 273 | Missing in isoform 3. | VSP_021998 | |||||
| Alternative sequence | 366 – 383 | 18 | MLSIL…SFRTG → MEFWANSCFHLYRAPYFW in isoform 5. | VSP_021999 | |||||
| Natural variant | 3 | 1 | Q → H. Ref.5 Corresponds to variant rs1884444 [ dbSNP | Ensembl ]. | VAR_029752 | |||||
| Natural variant | 175 | 1 | T → N. Corresponds to variant rs11465797 [ dbSNP | Ensembl ]. | VAR_047955 | |||||
| Natural variant | 310 | 1 | L → P. Ref.1 Ref.2 Ref.4 Ref.5 Ref.8 Corresponds to variant rs7530511 [ dbSNP | Ensembl ]. | VAR_029753 | |||||
| Natural variant | 381 | 1 | R → Q Associated with IBD17; has a protective effect against Crohn disease and psoriasis. Ref.5 Ref.6 Ref.7 Ref.8 Corresponds to variant rs11209026 [ dbSNP | Ensembl ]. | VAR_029754 | |||||
Experimental info | |||||||||
| Sequence conflict | 46 | 1 | M → T in AAY18346. Ref.2 | ||||||
| Sequence conflict | 133 | 1 | C → R in AAY18348. Ref.2 | ||||||
| Sequence conflict | 302 | 1 | R → G in AAY18348. Ref.2 | ||||||
| Sequence conflict | 475 | 1 | V → A in AAY18347. Ref.2 | ||||||
| Sequence conflict | 481 | 1 | N → D in AAY18347. Ref.2 | ||||||
| Sequence conflict | 581 | 1 | S → R in AAY18349. Ref.2 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R." Parham C., Chirica M., Timans J., Vaisberg E., Travis M., Cheung J., Pflanz S., Zhang R., Singh K.P., Vega F., To W., Wagner J., O'Farrell A.-M., McClanahan T.K., Zurawski S., Hannum C., Gorman D., Rennick D.M. Moore K.W.J. Immunol. 168:5699-5708(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH IL23; IL12RB1; JAK2 AND STAT3, PHOSPHORYLATION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT PRO-310. Tissue: Natural killer cell and T-cell. |
| [2] | "Identification and expression analysis of alternatively spliced isoforms of human interleukin-23 receptor gene in normal lymphoid cells and selected tumor cells." Zhang X.-Y., Zhang H.-J., Zhang Y., Fu Y.-J., He J., Zhu L.-P., Wang S.-H., Liu L. Immunogenetics 57:934-943(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 5), NUCLEOTIDE SEQUENCE [MRNA] OF 37-629 (ISOFORMS 1; 3 AND 4), TISSUE SPECIFICITY, VARIANT PRO-310. Tissue: Bone marrow. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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] (ISOFORMS 6 AND 7), VARIANT PRO-310. Tissue: Bone marrow and Skin. |
| [5] | "A genome-wide association study identifies IL23R as an inflammatory bowel disease gene." Duerr R.H., Taylor K.D., Brant S.R., Rioux J.D., Silverberg M.S., Daly M.J., Steinhart A.H., Abraham C., Regueiro M., Griffiths A., Dassopoulos T., Bitton A., Yang H., Targan S., Datta L.W., Kistner E.O., Schumm L.P., Lee A.T. Cho J.H.Science 314:1461-1463(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN IBD17, VARIANTS HIS-3; PRO-310 AND GLN-381. |
| [6] | "Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis." Capon F., Di Meglio P., Szaub J., Prescott N.J., Dunster C., Baumber L., Timms K., Gutin A., Abkevic V., Burden A.D., Lanchbury J., Barker J.N., Trembath R.C., Nestle F.O. Hum. Genet. 122:201-206(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN PSORIASIS, VARIANT GLN-381. |
| [7] | "Genome-wide association study for Crohn's disease in the Quebec founder population identifies multiple validated disease loci." Raelson J.V., Little R.D., Ruether A., Fournier H., Paquin B., Van Eerdewegh P., Bradley W.E.C., Croteau P., Nguyen-Huu Q., Segal J., Debrus S., Allard R., Rosenstiel P., Franke A., Jacobs G., Nikolaus S., Vidal J.-M., Szego P. Schreiber S.Proc. Natl. Acad. Sci. U.S.A. 104:14747-14752(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN IBD17, VARIANT GLN-381. |
| [8] | "Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis." Huffmeier U., Lascorz J., Bohm B., Lohmann J., Wendler J., Mossner R., Reich K., Traupe H., Kurrat W., Burkhardt H., Reis A. J. Invest. Dermatol. 129:355-358(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ASSOCIATION WITH PSORIASIS, VARIANTS PRO-310 AND GLN-381. |
| [9] | "Glycosylation analysis of interleukin-23 receptor: elucidation of glycosylation sites and characterization of attached glycan structures." Zhao J., Liu Y.H., Reichert P., Pflanz S., Pramanik B. J. Mass Spectrom. 45:1416-1425(2010) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-29; ASN-47; ASN-81; ASN-141; ASN-180; ASN-232; ASN-262 AND ASN-273. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF461422 mRNA. Translation: AAM44229.1. AY937250 mRNA. Translation: AAY18345.1. AY937251 mRNA. Translation: AAY18346.1. AY937252 mRNA. Translation: AAY18347.1. AY937253 mRNA. Translation: AAY18348.1. AY937254 mRNA. Translation: AAY18349.1. AY937255 mRNA. Translation: AAY18350.1. AL389925, AL109843 Genomic DNA. Translation: CAH70406.1. AL389925, AL109843 Genomic DNA. Translation: CAH70408.1. Different initiation. AL109843, AL389925 Genomic DNA. Translation: CAI22678.1. AL109843, AL389925 Genomic DNA. Translation: CAI22679.1. Different initiation. BC016829 mRNA. Translation: AAH16829.1. Different initiation. BC040720 mRNA. Translation: AAH40720.1. |
| IPI | IPI00303045. IPI00479853. IPI00815647. IPI00816048. IPI00816154. IPI00816175. IPI00816507. |
| RefSeq | NP_653302.2. NM_144701.2. |
| UniGene | Hs.677426. |
3D structure databases | |
| ProteinModelPortal | Q5VWK5. |
| SMR | Q5VWK5. Positions 28-318. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q5VWK5. |
Polymorphism databases | |
| DMDM | 311033431. |
Proteomic databases | |
| PaxDb | Q5VWK5. |
| PRIDE | Q5VWK5. |
Protocols and materials databases | |
| DNASU | 149233. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000347310; ENSP00000321345; ENSG00000162594. ENST00000371002; ENSP00000360041; ENSG00000162594. ENST00000395227; ENSP00000378652; ENSG00000162594. |
| GeneID | 149233. |
| KEGG | hsa:149233. |
| UCSC | uc001ddo.3. human. uc001dds.3. human. uc001ddt.3. human. uc010opk.2. human. uc010opw.2. human. |
Organism-specific databases | |
| CTD | 149233. |
| GeneCards | GC01P067632. |
| H-InvDB | HIX0023553. |
| HGNC | HGNC:19100. IL23R. |
| MIM | 605606. phenotype. 607562. gene. 612261. phenotype. |
| neXtProt | NX_Q5VWK5. |
| Orphanet | 117. Behcet disease. 206. Crohn disease. 771. Ulcerative colitis. |
| PharmGKB | PA134935109. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG41959. |
| HOVERGEN | HBG081787. |
| InParanoid | Q5VWK5. |
| KO | K05065. |
| OMA | RCQETGK. |
| OrthoDB | EOG42FSH7. |
| PhylomeDB | Q5VWK5. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | il23pathway. IL23-mediated signaling events. |
| SignaLink | Q5VWK5. |
Gene expression databases | |
| ArrayExpress | Q5VWK5. |
| Bgee | Q5VWK5. |
| Genevestigator | Q5VWK5. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 2 hits. |
| InterPro | IPR003961. Fibronectin_type3. IPR013783. Ig-like_fold. [Graphical view] |
| SMART | SM00060. FN3. 1 hit. [Graphical view] |
| SUPFAM | SSF49265. FN_III-like. 2 hits. |
| PROSITE | PS50853. FN3. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 149233. |
| NextBio | 86105. |
| SOURCE | Search... |
Entry information
| Entry name | IL23R_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5VWK5 Secondary accession number(s): C9JGX4 Q96AS1 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
