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Q14626

- I11RA_HUMAN

UniProt

Q14626 - I11RA_HUMAN

Protein

Interleukin-11 receptor subunit alpha

Gene

IL11RA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 2 (23 Nov 2004)
      Previous versions | rss
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    Functioni

    Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number.1 Publication

    GO - Molecular functioni

    1. cytokine receptor activity Source: InterPro
    2. signal transducer activity Source: ProtInc
    3. transmembrane signaling receptor activity Source: ProtInc

    GO - Biological processi

    1. developmental process Source: UniProtKB
    2. head development Source: UniProtKB
    3. signal transduction Source: GOC

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    SignaLinkiQ14626.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Interleukin-11 receptor subunit alpha
    Short name:
    IL-11 receptor subunit alpha
    Short name:
    IL-11R subunit alpha
    Short name:
    IL-11R-alpha
    Short name:
    IL-11RA
    Gene namesi
    Name:IL11RA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:5967. IL11RA.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]: A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti221 – 2211P → R in CRSDA. 1 Publication
    VAR_066666
    Natural varianti245 – 2451S → C in CRSDA. 1 Publication
    VAR_066667
    Natural varianti296 – 2961R → W in CRSDA; renders the receptor unable to mediate the IL11 signal. 1 Publication
    VAR_066668
    Natural varianti308 – 3081S → STWS in CRSDA.
    VAR_066669

    Keywords - Diseasei

    Craniosynostosis, Disease mutation

    Organism-specific databases

    MIMi614188. phenotype.
    Orphaneti284149. Craniosynostosis and dental anomalies.
    PharmGKBiPA29782.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 422400Interleukin-11 receptor subunit alphaPRO_0000010913Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi48 ↔ 94PROSITE-ProRule annotation
    Disulfide bondi120 ↔ 130PROSITE-ProRule annotation
    Glycosylationi127 – 1271N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi170 ↔ 180PROSITE-ProRule annotation
    Glycosylationi194 – 1941N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ14626.
    PRIDEiQ14626.

    PTM databases

    PhosphoSiteiQ14626.

    Expressioni

    Tissue specificityi

    Expressed in a number of cell lines, including the myelogenous leukemia cell line K-562, the megakaryocytic leukemia cell line M-07e, the erythroleukemia cell line TF-1, and the osteosarcoma cell lines, MG-63 and SaOS-2. Also expressed in normal and malignant prostate epithelial cell lines. Expression levels are increased in prostate carcinoma.1 Publication

    Gene expression databases

    ArrayExpressiQ14626.
    BgeeiQ14626.
    CleanExiHS_IL11RA.
    GenevestigatoriQ14626.

    Organism-specific databases

    HPAiCAB032830.
    HPA013162.
    HPA036652.

    Interactioni

    Subunit structurei

    On ligand binding, forms a multimer complex with IL6ST/gp130.

    Protein-protein interaction databases

    DIPiDIP-3776N.
    STRINGi9606.ENSP00000326500.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14626.
    SMRiQ14626. Positions 22-317.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini24 – 370347ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini392 – 42231CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei371 – 39121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini27 – 11084Ig-like C2-typeAdd
    BLAST
    Domaini112 – 219108Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini220 – 31798Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi304 – 3085WSXWS motif

    Sequence similaritiesi

    Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG28915.
    HOGENOMiHOG000231670.
    HOVERGENiHBG063427.
    InParanoidiQ14626.
    KOiK05056.
    OMAiSQYRINV.
    OrthoDBiEOG72NRQF.
    PhylomeDBiQ14626.
    TreeFamiTF331210.

    Family and domain databases

    Gene3Di2.60.40.10. 3 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR003530. Hematopoietin_rcpt_L_F3_CS.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    [Graphical view]
    SMARTiSM00060. FN3. 2 hits.
    SM00409. IG. 1 hit.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 2 hits.
    PROSITEiPS50853. FN3. 2 hits.
    PS01354. HEMATOPO_REC_L_F3. 1 hit.
    PS50835. IG_LIKE. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform HCR1 (identifier: Q14626-1) [UniParc]FASTAAdd to Basket

    Also known as: Membrane form

    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

    MSSSCSGLSR VLVAVATALV SASSPCPQAW GPPGVQYGQP GRSVKLCCPG    50
    VTAGDPVSWF RDGEPKLLQG PDSGLGHELV LAQADSTDEG TYICQTLDGA 100
    LGGTVTLQLG YPPARPVVSC QAADYENFSC TWSPSQISGL PTRYLTSYRK 150
    KTVLGADSQR RSPSTGPWPC PQDPLGAARC VVHGAEFWSQ YRINVTEVNP 200
    LGASTRLLDV SLQSILRPDP PQGLRVESVP GYPRRLRASW TYPASWPCQP 250
    HFLLKFRLQY RPAQHPAWST VEPAGLEEVI TDAVAGLPHA VRVSARDFLD 300
    AGTWSTWSPE AWGTPSTGTI PKEIPAWGQL HTQPEVEPQV DSPAPPRPSL 350
    QPHPRLLDHR DSVEQVAVLA SLGILSFLGL VAGALALGLW LRLRRGGKDG 400
    SPKPGFLASV IPVDRRPGAP NL 422
    Length:422
    Mass (Da):45,222
    Last modified:November 23, 2004 - v2
    Checksum:i1F8BC05C139FC326
    GO
    Isoform HCR2 (identifier: Q14626-2) [UniParc]FASTAAdd to Basket

    Also known as: Soluble form, sIL11RA

    The sequence of this isoform differs from the canonical sequence as follows:
         391-422: Missing.

    Note: Lacks the entire cytoplasmic domain.

    Show »
    Length:390
    Mass (Da):41,842
    Checksum:i847F8C6F5F52248D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651P → T.1 Publication
    Corresponds to variant rs11575589 [ dbSNP | Ensembl ].
    VAR_019821
    Natural varianti221 – 2211P → R in CRSDA. 1 Publication
    VAR_066666
    Natural varianti245 – 2451S → C in CRSDA. 1 Publication
    VAR_066667
    Natural varianti296 – 2961R → W in CRSDA; renders the receptor unable to mediate the IL11 signal. 1 Publication
    VAR_066668
    Natural varianti308 – 3081S → STWS in CRSDA.
    VAR_066669
    Natural varianti395 – 3951R → W.1 Publication
    Corresponds to variant rs11575580 [ dbSNP | Ensembl ].
    VAR_019822

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei391 – 42232Missing in isoform HCR2. 1 PublicationVSP_011879Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z38102 mRNA. Translation: CAA86224.1.
    Z46595 mRNA. Translation: CAA86570.1.
    U32323 Genomic DNA. Translation: AAB36491.1.
    U32324 mRNA. Translation: AAB36492.1.
    BT009864 mRNA. Translation: AAP88866.1.
    AY532110 Genomic DNA. Translation: AAS00093.1.
    AL162231 Genomic DNA. Translation: CAH69857.1.
    CH471071 Genomic DNA. Translation: EAW58423.1.
    BC003110 mRNA. Translation: AAH03110.1.
    CCDSiCCDS6567.1. [Q14626-1]
    PIRiI37891.
    RefSeqiNP_001136256.1. NM_001142784.2. [Q14626-1]
    UniGeneiHs.591088.

    Genome annotation databases

    EnsembliENST00000318041; ENSP00000326500; ENSG00000137070. [Q14626-1]
    ENST00000441545; ENSP00000394391; ENSG00000137070. [Q14626-1]
    ENST00000555003; ENSP00000450565; ENSG00000137070. [Q14626-1]
    ENST00000602473; ENSP00000473647; ENSG00000137070. [Q14626-2]
    GeneIDi3590.
    KEGGihsa:3590.
    UCSCiuc003zvi.4. human. [Q14626-1]

    Polymorphism databases

    DMDMi55976300.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z38102 mRNA. Translation: CAA86224.1 .
    Z46595 mRNA. Translation: CAA86570.1 .
    U32323 Genomic DNA. Translation: AAB36491.1 .
    U32324 mRNA. Translation: AAB36492.1 .
    BT009864 mRNA. Translation: AAP88866.1 .
    AY532110 Genomic DNA. Translation: AAS00093.1 .
    AL162231 Genomic DNA. Translation: CAH69857.1 .
    CH471071 Genomic DNA. Translation: EAW58423.1 .
    BC003110 mRNA. Translation: AAH03110.1 .
    CCDSi CCDS6567.1. [Q14626-1 ]
    PIRi I37891.
    RefSeqi NP_001136256.1. NM_001142784.2. [Q14626-1 ]
    UniGenei Hs.591088.

    3D structure databases

    ProteinModelPortali Q14626.
    SMRi Q14626. Positions 22-317.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-3776N.
    STRINGi 9606.ENSP00000326500.

    Chemistry

    ChEMBLi CHEMBL2050.
    DrugBanki DB00038. Oprelvekin.

    PTM databases

    PhosphoSitei Q14626.

    Polymorphism databases

    DMDMi 55976300.

    Proteomic databases

    PaxDbi Q14626.
    PRIDEi Q14626.

    Protocols and materials databases

    DNASUi 3590.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318041 ; ENSP00000326500 ; ENSG00000137070 . [Q14626-1 ]
    ENST00000441545 ; ENSP00000394391 ; ENSG00000137070 . [Q14626-1 ]
    ENST00000555003 ; ENSP00000450565 ; ENSG00000137070 . [Q14626-1 ]
    ENST00000602473 ; ENSP00000473647 ; ENSG00000137070 . [Q14626-2 ]
    GeneIDi 3590.
    KEGGi hsa:3590.
    UCSCi uc003zvi.4. human. [Q14626-1 ]

    Organism-specific databases

    CTDi 3590.
    GeneCardsi GC09P034650.
    HGNCi HGNC:5967. IL11RA.
    HPAi CAB032830.
    HPA013162.
    HPA036652.
    MIMi 600939. gene.
    614188. phenotype.
    neXtProti NX_Q14626.
    Orphaneti 284149. Craniosynostosis and dental anomalies.
    PharmGKBi PA29782.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG28915.
    HOGENOMi HOG000231670.
    HOVERGENi HBG063427.
    InParanoidi Q14626.
    KOi K05056.
    OMAi SQYRINV.
    OrthoDBi EOG72NRQF.
    PhylomeDBi Q14626.
    TreeFami TF331210.

    Enzyme and pathway databases

    SignaLinki Q14626.

    Miscellaneous databases

    ChiTaRSi IL11RA. human.
    GeneWikii Interleukin_11_receptor_alpha_subunit.
    GenomeRNAii 3590.
    NextBioi 14027.
    PROi Q14626.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14626.
    Bgeei Q14626.
    CleanExi HS_IL11RA.
    Genevestigatori Q14626.

    Family and domain databases

    Gene3Di 2.60.40.10. 3 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR003530. Hematopoietin_rcpt_L_F3_CS.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    [Graphical view ]
    SMARTi SM00060. FN3. 2 hits.
    SM00409. IG. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 2 hits.
    PROSITEi PS50853. FN3. 2 hits.
    PS01354. HEMATOPO_REC_L_F3. 1 hit.
    PS50835. IG_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of two isoforms of a receptor for the human hematopoietic cytokine interleukin-11."
      Cherel M., Sorel M., Lebeau B., Dubois S., Moreau J.-F., Bataille R., Minvielle S., Jacques Y.
      Blood 86:2534-2540(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS HCR1 AND HCR2).
      Tissue: Muscle.
    2. "Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13."
      Van Leuven F., Stas L., Hilliker C., Miyake Y., Bilinski P., Gossler A.
      Genomics 31:65-70(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM HCR1).
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM HCR1).
    4. SeattleSNPs variation discovery resource
      Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-65 AND TRP-395.
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM HCR1).
      Tissue: Brain.
    8. "Increased expression of the interleukin-11 receptor and evidence of STAT3 activation in prostate carcinoma."
      Campbell C.L., Jiang Z., Savarese D.M., Savarese T.M.
      Am. J. Pathol. 158:25-32(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. Cited for: FUNCTION, VARIANTS CRSDA ARG-221; CYS-245; TRP-296 AND THR-TRP-SER-308 INS, CHARACTERIZATION OF VARIANT CRSDA TRP-296.

    Entry informationi

    Entry nameiI11RA_HUMAN
    AccessioniPrimary (citable) accession number: Q14626
    Secondary accession number(s): Q16542, Q5VZ80, Q7KYJ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 23, 2004
    Last sequence update: November 23, 2004
    Last modified: October 1, 2014
    This is version 108 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3