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Q14626

- I11RA_HUMAN

UniProt

Q14626 - I11RA_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 370347Extracellular Reviewed prediction
Add
BLAST
Transmembranei371 – 39121Helical; Reviewed prediction
Add
BLAST
Topological domaini392 – 42231Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 422400Interleukin-11 receptor subunit alpha
PRO_0000010913Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi48 ↔ 94 By similarity
Disulfide bondi120 ↔ 130 By similarity
Glycosylationi127 – 1271N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi170 ↔ 180 By similarity
Glycosylationi194 – 1941N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Domains and Repeats

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

Motif

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

Sequence similaritiesi

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.
VSP_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]
ENST00000378817; ENSP00000368094; ENSG00000137070. [Q14626-2]
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 ]
ENST00000378817 ; ENSP00000368094 ; ENSG00000137070 . [Q14626-2 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 107 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

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