IL9R_HUMAN
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 03-AUG-2022, entry version 202.
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/";
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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. [Q01113-2]
DR RefSeq; XP_011543951.1; XM_011545649.2. [Q01113-2]
DR RefSeq; XP_016884986.1; XM_017029497.1. [Q01113-2]
DR RefSeq; XP_016884987.1; XM_017029498.1. [Q01113-2]
DR RefSeq; XP_016884988.1; XM_017029499.1. [Q01113-2]
DR RefSeq; XP_016885535.1; XM_017030046.1. [Q01113-2]
DR RefSeq; XP_016885536.1; XM_017030047.1. [Q01113-2]
DR RefSeq; XP_016885537.1; XM_017030048.1. [Q01113-2]
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 GlyGen; Q01113; 2 sites.
DR iPTMnet; Q01113; -.
DR PhosphoSitePlus; Q01113; -.
DR BioMuta; IL9R; -.
DR DMDM; 116242526; -.
DR MassIVE; Q01113; -.
DR PaxDb; Q01113; -.
DR PeptideAtlas; Q01113; -.
DR PRIDE; Q01113; -.
DR ProteomicsDB; 57919; -. [Q01113-1]
DR ProteomicsDB; 57920; -. [Q01113-2]
DR ProteomicsDB; 7556; -.
DR Antibodypedia; 4187; 443 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 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 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; CWGVSVP; -.
DR OrthoDB; 774083at2759; -.
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; 59 hits in 565 CRISPR screens.
DR GeneWiki; Interleukin-9_receptor; -.
DR GenomeRNAi; 3581; -.
DR Pharos; Q01113; Tbio.
DR PRO; PR:Q01113; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q01113; protein.
DR Bgee; ENSG00000124334; Expressed in lymph node and 93 other tissues.
DR Genevisible; Q01113; HS.
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:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0004896; F:cytokine receptor activity; IBA:GO_Central.
DR GO; GO:0019983; F:interleukin-9 binding; IBA:GO_Central.
DR GO; GO:0004919; F:interleukin-9 receptor activity; IBA:GO_Central.
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: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; -; 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 SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
DR PROSITE; PS01355; HEMATOPO_REC_S_F1; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Glycoprotein; Membrane; Receptor;
KW Reference proteome; Secreted; Signal; Transmembrane; 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"
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
