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Q01113

- IL9R_HUMAN

UniProt

Q01113 - IL9R_HUMAN

Protein

Interleukin-9 receptor

Gene

IL9R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    This is a receptor for interleukin-9.

    GO - Molecular functioni

    1. interleukin-9 receptor activity Source: ProtInc

    GO - Biological processi

    1. cell proliferation Source: ProtInc
    2. positive regulation of cell growth Source: Ensembl
    3. signal transduction Source: ProtInc

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    SignaLinkiQ01113.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Interleukin-9 receptor
    Short name:
    IL-9 receptor
    Short name:
    IL-9R
    Alternative name(s):
    CD_antigen: CD129
    Gene namesi
    Name:IL9R
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:6030. IL9R.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: ProtInc
    2. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29846.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4040Sequence AnalysisAdd
    BLAST
    Chaini41 – 521481Interleukin-9 receptorPRO_0000010911Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi117 – 1171N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi156 – 1561N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ01113.
    PRIDEiQ01113.

    PTM databases

    PhosphoSiteiQ01113.

    Expressioni

    Gene expression databases

    BgeeiQ01113.
    CleanExiHS_IL9R.
    GenevestigatoriQ01113.

    Organism-specific databases

    HPAiCAB010497.

    Interactioni

    Protein-protein interaction databases

    BioGridi109795. 4 interactions.
    DIPiDIP-3156N.
    IntActiQ01113. 2 interactions.
    MINTiMINT-120360.
    STRINGi9606.ENSP00000244174.

    Structurei

    3D structure databases

    ProteinModelPortaliQ01113.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini41 – 270230ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini292 – 521230CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei271 – 29121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini149 – 259111Fibronectin type-IIIPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi245 – 2495WSXWS motif
    Motifi301 – 3099Box 1 motif

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi429 – 43810Poly-Ser
    Compositional biasi439 – 4424Poly-Asn

    Domaini

    The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
    The box 1 motif is required for JAK interaction and/or activation.

    Sequence similaritiesi

    Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG45141.
    HOGENOMiHOG000232001.
    HOVERGENiHBG005032.
    InParanoidiQ01113.
    KOiK05073.
    OMAiHEDLQGM.
    OrthoDBiEOG7TQV0Z.
    PhylomeDBiQ01113.
    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]
    SUPFAMiSSF49265. SSF49265. 1 hit.
    PROSITEiPS50853. FN3. 1 hit.
    PS01355. HEMATOPO_REC_S_F1. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q01113-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MGLGRCIWEG WTLESEALRR DMGTWLLACI CICTCVCLGV SVTGEGQGPR    50
    SRTFTCLTNN ILRIDCHWSA PELGQGSSPW LLFTSNQAPG GTHKCILRGS 100
    ECTVVLPPEA VLVPSDNFTI TFHHCMSGRE QVSLVDPEYL PRRHVKLDPP 150
    SDLQSNISSG HCILTWSISP ALEPMTTLLS YELAFKKQEE AWEQAQHRDH 200
    IVGVTWLILE AFELDPGFIH EARLRVQMAT LEDDVVEEER YTGQWSEWSQ 250
    PVCFQAPQRQ GPLIPPWGWP GNTLVAVSIF LLLTGPTYLL FKLSPRVKRI 300
    FYQNVPSPAM FFQPLYSVHN GNFQTWMGAH GAGVLLSQDC AGTPQGALEP 350
    CVQEATALLT CGPARPWKSV ALEEEQEGPG TRLPGNLSSE DVLPAGCTEW 400
    RVQTLAYLPQ EDWAPTSLTR PAPPDSEGSR SSSSSSSSNN NNYCALGCYG 450
    GWHLSALPGN TQSSGPIPAL ACGLSCDHQG LETQQGVAWV LAGHCQRPGL 500
    HEDLQGMLLP SVLSKARSWT F 521
    Length:521
    Mass (Da):57,147
    Last modified:October 17, 2006 - v3
    Checksum:i07C40436466173F3
    GO
    Isoform 2 (identifier: Q01113-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-21: Missing.

    Show »
    Length:500
    Mass (Da):54,686
    Checksum:iC79D0C8C1D330D8F
    GO
    Isoform 3 (identifier: Q01113-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MGLGRCIWE → MPQTCDGTGQMHLGSNCCKNGQTLLQRTCHGVSCCGWWFQAARSILGKGPSAQSLA
         85-154: SNQAPGGTHK...VKLDPPSDLQ → RLLAAHISAS...WTRSTCPGDT
         297-307: VKRIFYQNVPS → LGWGPTGPVCC
         308-521: Missing.

    Show »
    Length:342
    Mass (Da):37,389
    Checksum:iBC2E46EF83989332
    GO

    Sequence cautioni

    The sequence AAB30844.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti438 – 4381S → SS in AAA58679. (PubMed:1376929)Curated
    Sequence conflicti438 – 4381S → SS in AAL55435. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631R → K.1 Publication
    Corresponds to variant rs3093495 [ dbSNP | Ensembl ].
    VAR_038784
    Natural varianti239 – 2391E → Q.1 Publication
    Corresponds to variant rs6522 [ dbSNP | Ensembl ].
    VAR_014804
    Natural varianti288 – 2881Y → C.1 Publication
    Corresponds to variant rs3093514 [ dbSNP | Ensembl ].
    VAR_033920
    Natural varianti331 – 3311G → R.2 Publications
    Corresponds to variant rs2230001 [ dbSNP | Ensembl ].
    VAR_055348
    Natural varianti365 – 3651R → H.
    Corresponds to variant rs2228650 [ dbSNP | Ensembl ].
    VAR_055349

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2121Missing in isoform 2. CuratedVSP_039025Add
    BLAST
    Alternative sequencei1 – 99MGLGRCIWE → MPQTCDGTGQMHLGSNCCKN GQTLLQRTCHGVSCCGWWFQ AARSILGKGPSAQSLA in isoform 3. CuratedVSP_046207
    Alternative sequencei85 – 15470SNQAP…PSDLQ → RLLAAHISASCGAVSAPSCC HLRQCSCHLTISPSLSTTAC LGGSRSAWWTRSTCPGDT in isoform 3. CuratedVSP_046208Add
    BLAST
    Alternative sequencei297 – 30711VKRIFYQNVPS → LGWGPTGPVCC in isoform 3. CuratedVSP_046209Add
    BLAST
    Alternative sequencei308 – 521214Missing in isoform 3. CuratedVSP_046210Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84747 mRNA. Translation: AAA58679.1.
    L39064 Genomic DNA. Translation: AAC29513.1.
    AJ271736 Genomic DNA. Translation: CAB96817.1.
    AY071830 Genomic DNA. Translation: AAL55435.1.
    CH471247 Genomic DNA. Translation: EAW55884.1.
    S71404 mRNA. Translation: AAB30844.2. Different initiation.
    S71420 Genomic DNA. Translation: AAD14081.1.
    CCDSiCCDS14771.4. [Q01113-1]
    CCDS59180.1. [Q01113-3]
    PIRiB45268.
    RefSeqiNP_002177.2. NM_002186.2. [Q01113-1]
    NP_789743.2. NM_176786.1. [Q01113-3]
    UniGeneiHs.406228.

    Genome annotation databases

    EnsembliENST00000244174; ENSP00000244174; ENSG00000124334. [Q01113-1]
    ENST00000369423; ENSP00000358431; ENSG00000124334. [Q01113-3]
    GeneIDi3581.
    KEGGihsa:3581.
    UCSCiuc004fnu.1. human.
    uc004fnv.1. human. [Q01113-1]

    Polymorphism databases

    DMDMi116242526.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84747 mRNA. Translation: AAA58679.1 .
    L39064 Genomic DNA. Translation: AAC29513.1 .
    AJ271736 Genomic DNA. Translation: CAB96817.1 .
    AY071830 Genomic DNA. Translation: AAL55435.1 .
    CH471247 Genomic DNA. Translation: EAW55884.1 .
    S71404 mRNA. Translation: AAB30844.2 . Different initiation.
    S71420 Genomic DNA. Translation: AAD14081.1 .
    CCDSi CCDS14771.4. [Q01113-1 ]
    CCDS59180.1. [Q01113-3 ]
    PIRi B45268.
    RefSeqi NP_002177.2. NM_002186.2. [Q01113-1 ]
    NP_789743.2. NM_176786.1. [Q01113-3 ]
    UniGenei Hs.406228.

    3D structure databases

    ProteinModelPortali Q01113.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109795. 4 interactions.
    DIPi DIP-3156N.
    IntActi Q01113. 2 interactions.
    MINTi MINT-120360.
    STRINGi 9606.ENSP00000244174.

    PTM databases

    PhosphoSitei Q01113.

    Polymorphism databases

    DMDMi 116242526.

    Proteomic databases

    PaxDbi Q01113.
    PRIDEi Q01113.

    Protocols and materials databases

    DNASUi 3581.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000244174 ; ENSP00000244174 ; ENSG00000124334 . [Q01113-1 ]
    ENST00000369423 ; ENSP00000358431 ; ENSG00000124334 . [Q01113-3 ]
    GeneIDi 3581.
    KEGGi hsa:3581.
    UCSCi uc004fnu.1. human.
    uc004fnv.1. human. [Q01113-1 ]

    Organism-specific databases

    CTDi 3581.
    GeneCardsi GC0XP155227.
    H-InvDB HIX0176548.
    HIX0177609.
    HGNCi HGNC:6030. IL9R.
    HPAi CAB010497.
    MIMi 300007. gene.
    neXtProti NX_Q01113.
    PharmGKBi PA29846.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45141.
    HOGENOMi HOG000232001.
    HOVERGENi HBG005032.
    InParanoidi Q01113.
    KOi K05073.
    OMAi HEDLQGM.
    OrthoDBi EOG7TQV0Z.
    PhylomeDBi Q01113.
    TreeFami TF337874.

    Enzyme and pathway databases

    SignaLinki Q01113.

    Miscellaneous databases

    GeneWikii Interleukin-9_receptor.
    GenomeRNAii 3581.
    NextBioi 13997.
    PROi Q01113.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q01113.
    CleanExi HS_IL9R.
    Genevestigatori Q01113.

    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 ]
    SUPFAMi SSF49265. SSF49265. 1 hit.
    PROSITEi PS50853. FN3. 1 hit.
    PS01355. HEMATOPO_REC_S_F1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-331.
    2. "The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter."
      Kermouni A., van Roost E., Arden K.C., Vermeesch J.R., Weiss S., Godelaine D., Flint J., Lurquin C., Szikora J.-P., Higgs D.R., Marynen P., Renauld J.-C.
      Genomics 29:371-382(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Melanoma.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. SeattleSNPs variation discovery resource
      Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LYS-63; GLN-239 AND CYS-288.
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "Isolation and characterization of the human interleukin-9 receptor gene."
      Chang M.S., Engel G., Benedict C., Basu R., McNinch J.
      Blood 83:3199-3205(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 22-33, PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ARG-331.

    Entry informationi

    Entry nameiIL9R_HUMAN
    AccessioniPrimary (citable) accession number: Q01113
    Secondary accession number(s): B9ZVT0
    , Q14634, Q8WWU1, Q96TF0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 144 of the entry and version 3 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

    Miscellaneous

    The gene coding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome X
      Human chromosome X: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3