ID IL9R_HUMAN Reviewed; 521 AA. AC Q01113; B9ZVT0; Q14634; Q8WWU1; Q96TF0; DT 01-APR-1993, integrated into UniProtKB/Swiss-Prot. DT 17-OCT-2006, sequence version 3. DT 27-MAR-2024, entry version 211. DE RecName: Full=Interleukin-9 receptor; DE Short=IL-9 receptor; DE Short=IL-9R; DE AltName: CD_antigen=CD129; DE Flags: Precursor; GN Name=IL9R; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ARG-331. RX PubMed=1376929; DOI=10.1073/pnas.89.12.5690; RA Renauld J.-C., Druez C., Kermouni A., Houssiau F., Uyttenhove C., RA van Roost E., van Snick J.; RT "Expression cloning of the murine and human interleukin 9 receptor cDNAs."; RL Proc. Natl. Acad. Sci. U.S.A. 89:5690-5694(1992). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RC TISSUE=Melanoma; RX PubMed=8666384; DOI=10.1006/geno.1995.9992; RA Kermouni A., van Roost E., Arden K.C., Vermeesch J.R., Weiss S., RA Godelaine D., Flint J., Lurquin C., Szikora J.-P., Higgs D.R., Marynen P., RA Renauld J.-C.; RT "The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization RT in the pseudoautosomal region of the long arm of the sex chromosomes, and RT identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter."; RL Genomics 29:371-382(1995). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=10655549; DOI=10.1093/hmg/9.3.395; RA Ciccodicola A., D'Esposito M., Esposito T., Gianfrancesco F., RA Migliaccio C., Miano M.G., Matarazzo M.R., Vacca M., Franze A., RA Cuccurese M., Cocchia M., Curci A., Terracciano A., Torino A., Cocchia S., RA Mercadante G., Pannone E., Archidiacono N., Rocchi M., Schlessinger D., RA D'Urso M.; RT "Differentially regulated and evolved genes in the fully sequenced Xq/Yq RT pseudoautosomal region."; RL Hum. Mol. Genet. 9:395-401(2000). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LYS-63; GLN-239 AND RP CYS-288. RG SeattleSNPs variation discovery resource; RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., RA Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [7] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 22-33, PARTIAL NUCLEOTIDE SEQUENCE RP [MRNA] (ISOFORM 2), AND VARIANT ARG-331. RX PubMed=8193355; RA Chang M.S., Engel G., Benedict C., Basu R., McNinch J.; RT "Isolation and characterization of the human interleukin-9 receptor gene."; RL Blood 83:3199-3205(1994). CC -!- FUNCTION: Plays an important role in the immune response against CC parasites by acting as a receptor of IL9. CC {ECO:0000250|UniProtKB:Q01114}. CC -!- SUBUNIT: Interacts with IL9. {ECO:0000250|UniProtKB:Q01114}. CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane CC protein. Secreted. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q01113-1; Sequence=Displayed; CC Name=2; CC IsoId=Q01113-2; Sequence=VSP_039025; CC Name=3; CC IsoId=Q01113-3; Sequence=VSP_046207, VSP_046208, VSP_046209, CC VSP_046210; CC -!- DOMAIN: The WSXWS motif appears to be necessary for proper protein CC folding and thereby efficient intracellular transport and cell-surface CC receptor binding. CC -!- DOMAIN: The box 1 motif is required for JAK interaction and/or CC activation. CC -!- MISCELLANEOUS: The gene coding for this protein is located in the CC pseudoautosomal region 2 (PAR2) of X and Y chromosomes. CC -!- SIMILARITY: Belongs to the type I cytokine receptor family. Type 4 CC subfamily. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAB30844.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC -!- WEB RESOURCE: Name=SeattleSNPs; CC URL="http://pga.gs.washington.edu/data/il9r/"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; M84747; AAA58679.1; -; mRNA. DR EMBL; L39064; AAC29513.1; -; Genomic_DNA. DR EMBL; AJ271736; CAB96817.1; -; Genomic_DNA. DR EMBL; AY071830; AAL55435.1; -; Genomic_DNA. DR EMBL; CH471247; EAW55884.1; -; Genomic_DNA. DR EMBL; S71404; AAB30844.2; ALT_INIT; mRNA. DR EMBL; S71420; AAD14081.1; -; Genomic_DNA. DR CCDS; CCDS14771.4; -. [Q01113-1] DR CCDS; CCDS59180.1; -. [Q01113-3] DR PIR; B45268; B45268. DR RefSeq; NP_002177.2; NM_002186.2. [Q01113-1] DR RefSeq; NP_789743.2; NM_176786.1. [Q01113-3] DR RefSeq; XP_011529456.1; XM_011531154.2. DR RefSeq; XP_011543951.1; XM_011545649.2. DR RefSeq; XP_016884986.1; XM_017029497.1. DR RefSeq; XP_016884987.1; XM_017029498.1. DR RefSeq; XP_016884988.1; XM_017029499.1. DR RefSeq; XP_016885535.1; XM_017030046.1. DR RefSeq; XP_016885536.1; XM_017030047.1. DR RefSeq; XP_016885537.1; XM_017030048.1. DR PDB; 7OX5; X-ray; 3.09 A; A/C/E/G/I/K/M/O=40-261. DR PDBsum; 7OX5; -. DR AlphaFoldDB; Q01113; -. DR SMR; Q01113; -. DR BioGRID; 109795; 28. DR DIP; DIP-3156N; -. DR ELM; Q01113; -. DR IntAct; Q01113; 12. DR MINT; Q01113; -. DR STRING; 9606.ENSP00000244174; -. DR GlyCosmos; Q01113; 2 sites, No reported glycans. DR GlyGen; Q01113; 2 sites. DR iPTMnet; Q01113; -. DR PhosphoSitePlus; Q01113; -. DR BioMuta; IL9R; -. DR DMDM; 116242526; -. DR MassIVE; Q01113; -. DR PaxDb; 9606-ENSP00000244174; -. DR PeptideAtlas; Q01113; -. DR ProteomicsDB; 57919; -. [Q01113-1] DR ProteomicsDB; 57920; -. [Q01113-2] DR ProteomicsDB; 7556; -. DR Antibodypedia; 4187; 480 antibodies from 33 providers. DR DNASU; 3581; -. DR Ensembl; ENST00000244174.11; ENSP00000244174.5; ENSG00000124334.18. [Q01113-1] DR Ensembl; ENST00000369423.7; ENSP00000358431.2; ENSG00000124334.18. [Q01113-3] DR Ensembl; ENST00000711286.1; ENSP00000518617.1; ENSG00000292373.1. [Q01113-1] DR Ensembl; ENST00000711287.1; ENSP00000518616.1; ENSG00000292373.1. [Q01113-3] DR GeneID; 3581; -. DR KEGG; hsa:3581; -. DR MANE-Select; ENST00000244174.11; ENSP00000244174.5; NM_002186.3; NP_002177.2. DR UCSC; uc004fnu.2; human. [Q01113-1] DR AGR; HGNC:6030; -. DR CTD; 3581; -. DR DisGeNET; 3581; -. DR GeneCards; IL9R; -. DR HGNC; HGNC:6030; IL9R. DR HPA; ENSG00000124334; Tissue enhanced (lymphoid tissue, urinary bladder). DR MIM; 300007; gene. DR neXtProt; NX_Q01113; -. DR OpenTargets; ENSG00000124334; -. DR PharmGKB; PA29846; -. DR VEuPathDB; HostDB:ENSG00000124334; -. DR eggNOG; ENOG502SB39; Eukaryota. DR GeneTree; ENSGT00510000049125; -. DR HOGENOM; CLU_614777_0_0_1; -. DR InParanoid; Q01113; -. DR OMA; VKRTFYQ; -. DR OrthoDB; 5361898at2759; -. DR PhylomeDB; Q01113; -. DR TreeFam; TF337874; -. DR PathwayCommons; Q01113; -. DR Reactome; R-HSA-8985947; Interleukin-9 signaling. DR SignaLink; Q01113; -. DR SIGNOR; Q01113; -. DR BioGRID-ORCS; 3581; 62 hits in 611 CRISPR screens. DR GeneWiki; Interleukin-9_receptor; -. DR GenomeRNAi; 3581; -. DR Pharos; Q01113; Tbio. DR PRO; PR:Q01113; -. DR Proteomes; UP000005640; Chromosome X. DR Proteomes; UP000005640; Chromosome Y. DR RNAct; Q01113; Protein. DR Bgee; ENSG00000124334; Expressed in primordial germ cell in gonad and 94 other cell types or tissues. DR GO; GO:0009897; C:external side of plasma membrane; IBA:GO_Central. DR GO; GO:0005615; C:extracellular space; TAS:ProtInc. DR GO; GO:0005886; C:plasma membrane; IDA:UniProt. DR GO; GO:0019983; F:interleukin-9 binding; IBA:GO_Central. DR GO; GO:0004919; F:interleukin-9 receptor activity; IDA:UniProt. DR GO; GO:0019221; P:cytokine-mediated signaling pathway; IBA:GO_Central. DR GO; GO:0016064; P:immunoglobulin mediated immune response; IBA:GO_Central. DR GO; GO:0038113; P:interleukin-9-mediated signaling pathway; IDA:UniProt. DR GO; GO:0042127; P:regulation of cell population proliferation; TAS:GO_Central. DR GO; GO:0007165; P:signal transduction; TAS:ProtInc. DR Gene3D; 2.60.40.10; Immunoglobulins; 1. DR InterPro; IPR003961; FN3_dom. DR InterPro; IPR036116; FN3_sf. DR InterPro; IPR003531; Hempt_rcpt_S_F1_CS. DR InterPro; IPR013783; Ig-like_fold. DR PANTHER; PTHR23037; CYTOKINE RECEPTOR; 1. DR PANTHER; PTHR23037:SF29; INTERLEUKIN-9 RECEPTOR; 1. DR SUPFAM; SSF49265; Fibronectin type III; 1. DR PROSITE; PS50853; FN3; 1. DR PROSITE; PS01355; HEMATOPO_REC_S_F1; 1. DR Genevisible; Q01113; HS. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Cell membrane; Glycoprotein; Membrane; KW Receptor; Reference proteome; Secreted; Signal; Transmembrane; KW Transmembrane helix. FT SIGNAL 1..40 FT /evidence="ECO:0000255" FT CHAIN 41..521 FT /note="Interleukin-9 receptor" FT /id="PRO_0000010911" FT TOPO_DOM 41..270 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 271..291 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 292..521 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT DOMAIN 149..259 FT /note="Fibronectin type-III" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316" FT REGION 413..439 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOTIF 245..249 FT /note="WSXWS motif" FT MOTIF 301..309 FT /note="Box 1 motif" FT COMPBIAS 422..439 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT CARBOHYD 117 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 156 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 1..21 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_039025" FT VAR_SEQ 1..9 FT /note="MGLGRCIWE -> MPQTCDGTGQMHLGSNCCKNGQTLLQRTCHGVSCCGWWF FT QAARSILGKGPSAQSLA (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_046207" FT VAR_SEQ 85..154 FT /note="SNQAPGGTHKCILRGSECTVVLPPEAVLVPSDNFTITFHHCMSGREQVSLVD FT PEYLPRRHVKLDPPSDLQ -> RLLAAHISASCGAVSAPSCCHLRQCSCHLTISPSLST FT TACLGGSRSAWWTRSTCPGDT (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_046208" FT VAR_SEQ 297..307 FT /note="VKRIFYQNVPS -> LGWGPTGPVCC (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_046209" FT VAR_SEQ 308..521 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_046210" FT VARIANT 63 FT /note="R -> K (in dbSNP:rs3093495)" FT /evidence="ECO:0000269|Ref.4" FT /id="VAR_038784" FT VARIANT 239 FT /note="E -> Q (in dbSNP:rs6522)" FT /evidence="ECO:0000269|Ref.4" FT /id="VAR_014804" FT VARIANT 288 FT /note="Y -> C (in dbSNP:rs149119910)" FT /evidence="ECO:0000269|Ref.4" FT /id="VAR_033920" FT VARIANT 331 FT /note="G -> R (in dbSNP:rs2230001)" FT /evidence="ECO:0000269|PubMed:1376929, FT ECO:0000269|PubMed:8193355" FT /id="VAR_055348" FT VARIANT 365 FT /note="R -> H (in dbSNP:rs2228650)" FT /id="VAR_055349" FT CONFLICT 438 FT /note="S -> SS (in Ref. 1; AAA58679 and 4; AAL55435)" FT /evidence="ECO:0000305" FT HELIX 51..53 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 54..58 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 60..69 FT /evidence="ECO:0007829|PDB:7OX5" FT TURN 71..74 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 75..77 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 80..87 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 92..96 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 99..105 FT /evidence="ECO:0007829|PDB:7OX5" FT HELIX 108..110 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 118..125 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 131..139 FT /evidence="ECO:0007829|PDB:7OX5" FT HELIX 141..143 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 151..158 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 161..167 FT /evidence="ECO:0007829|PDB:7OX5" FT HELIX 170..178 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 179..187 FT /evidence="ECO:0007829|PDB:7OX5" FT HELIX 192..194 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 196..203 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 205..209 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 218..228 FT /evidence="ECO:0007829|PDB:7OX5" FT HELIX 237..239 FT /evidence="ECO:0007829|PDB:7OX5" FT STRAND 252..255 FT /evidence="ECO:0007829|PDB:7OX5" SQ SEQUENCE 521 AA; 57147 MW; 07C40436466173F3 CRC64; MGLGRCIWEG WTLESEALRR DMGTWLLACI CICTCVCLGV SVTGEGQGPR SRTFTCLTNN ILRIDCHWSA PELGQGSSPW LLFTSNQAPG GTHKCILRGS ECTVVLPPEA VLVPSDNFTI TFHHCMSGRE QVSLVDPEYL PRRHVKLDPP SDLQSNISSG HCILTWSISP ALEPMTTLLS YELAFKKQEE AWEQAQHRDH IVGVTWLILE AFELDPGFIH EARLRVQMAT LEDDVVEEER YTGQWSEWSQ PVCFQAPQRQ GPLIPPWGWP GNTLVAVSIF LLLTGPTYLL FKLSPRVKRI FYQNVPSPAM FFQPLYSVHN GNFQTWMGAH GAGVLLSQDC AGTPQGALEP CVQEATALLT CGPARPWKSV ALEEEQEGPG TRLPGNLSSE DVLPAGCTEW RVQTLAYLPQ EDWAPTSLTR PAPPDSEGSR SSSSSSSSNN NNYCALGCYG GWHLSALPGN TQSSGPIPAL ACGLSCDHQG LETQQGVAWV LAGHCQRPGL HEDLQGMLLP SVLSKARSWT F //