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Q01113 (IL9R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Interleukin-9 receptor

Short name=IL-9 receptor
Short name=IL-9R
Alternative name(s):
CD_antigen=CD129
Gene names
Name:IL9R
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length521 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

This is a receptor for interleukin-9.

Subcellular location

Cell membrane; Single-pass type I membrane protein. Secreted.

Domain

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.

Miscellaneous

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

Sequence similarities

Belongs to the type I cytokine receptor family. Type 4 subfamily.

Contains 1 fibronectin type-III domain.

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q01113-1)

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.
Isoform 2 (identifier: Q01113-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: Missing.
Isoform 3 (identifier: Q01113-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4040 Potential
Chain41 – 521481Interleukin-9 receptor
PRO_0000010911

Regions

Topological domain41 – 270230Extracellular Potential
Transmembrane271 – 29121Helical; Potential
Topological domain292 – 521230Cytoplasmic Potential
Domain149 – 259111Fibronectin type-III
Motif245 – 2495WSXWS motif
Motif301 – 3099Box 1 motif
Compositional bias429 – 43810Poly-Ser
Compositional bias439 – 4424Poly-Asn

Amino acid modifications

Glycosylation1171N-linked (GlcNAc...) Potential
Glycosylation1561N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 2121Missing in isoform 2.
VSP_039025
Alternative sequence1 – 99MGLGRCIWE → MPQTCDGTGQMHLGSNCCKN GQTLLQRTCHGVSCCGWWFQ AARSILGKGPSAQSLA in isoform 3.
VSP_046207
Alternative sequence85 – 15470SNQAP…PSDLQ → RLLAAHISASCGAVSAPSCC HLRQCSCHLTISPSLSTTAC LGGSRSAWWTRSTCPGDT in isoform 3.
VSP_046208
Alternative sequence297 – 30711VKRIFYQNVPS → LGWGPTGPVCC in isoform 3.
VSP_046209
Alternative sequence308 – 521214Missing in isoform 3.
VSP_046210
Natural variant631R → K. Ref.4
Corresponds to variant rs3093495 [ dbSNP | Ensembl ].
VAR_038784
Natural variant2391E → Q. Ref.4
Corresponds to variant rs6522 [ dbSNP | Ensembl ].
VAR_014804
Natural variant2881Y → C. Ref.4
Corresponds to variant rs3093514 [ dbSNP | Ensembl ].
VAR_033920
Natural variant3311G → R. Ref.1 Ref.7
Corresponds to variant rs2230001 [ dbSNP | Ensembl ].
VAR_055348
Natural variant3651R → H.
Corresponds to variant rs2228650 [ dbSNP | Ensembl ].
VAR_055349

Experimental info

Sequence conflict4381S → SS in AAA58679. Ref.1
Sequence conflict4381S → SS in AAL55435. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: 07C40436466173F3

FASTA52157,147
        10         20         30         40         50         60 
MGLGRCIWEG WTLESEALRR DMGTWLLACI CICTCVCLGV SVTGEGQGPR SRTFTCLTNN 

        70         80         90        100        110        120 
ILRIDCHWSA PELGQGSSPW LLFTSNQAPG GTHKCILRGS ECTVVLPPEA VLVPSDNFTI 

       130        140        150        160        170        180 
TFHHCMSGRE QVSLVDPEYL PRRHVKLDPP SDLQSNISSG HCILTWSISP ALEPMTTLLS 

       190        200        210        220        230        240 
YELAFKKQEE AWEQAQHRDH IVGVTWLILE AFELDPGFIH EARLRVQMAT LEDDVVEEER 

       250        260        270        280        290        300 
YTGQWSEWSQ PVCFQAPQRQ GPLIPPWGWP GNTLVAVSIF LLLTGPTYLL FKLSPRVKRI 

       310        320        330        340        350        360 
FYQNVPSPAM FFQPLYSVHN GNFQTWMGAH GAGVLLSQDC AGTPQGALEP CVQEATALLT 

       370        380        390        400        410        420 
CGPARPWKSV ALEEEQEGPG TRLPGNLSSE DVLPAGCTEW RVQTLAYLPQ EDWAPTSLTR 

       430        440        450        460        470        480 
PAPPDSEGSR SSSSSSSSNN NNYCALGCYG GWHLSALPGN TQSSGPIPAL ACGLSCDHQG 

       490        500        510        520 
LETQQGVAWV LAGHCQRPGL HEDLQGMLLP SVLSKARSWT F 

« Hide

Isoform 2 [UniParc].

Checksum: C79D0C8C1D330D8F
Show »

FASTA50054,686
Isoform 3 [UniParc].

Checksum: BC2E46EF83989332
Show »

FASTA34237,389

References

« Hide 'large scale' references
[1]"Expression cloning of the murine and human interleukin 9 receptor cDNAs."
Renauld J.-C., Druez C., Kermouni A., Houssiau F., Uyttenhove C., van Roost E., van Snick J.
Proc. Natl. Acad. Sci. U.S.A. 89:5690-5694(1992) [PubMed] [Europe PMC] [Abstract]
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]"Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region."
Ciccodicola A., D'Esposito M., Esposito T., Gianfrancesco F., Migliaccio C., Miano M.G., Matarazzo M.R., Vacca M., Franze A., Cuccurese M., Cocchia M., Curci A., Terracciano A., Torino A., Cocchia S., Mercadante G., Pannone E., Archidiacono N. expand/collapse author list , Rocchi M., Schlessinger D., D'Urso M.
Hum. Mol. Genet. 9:395-401(2000) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS14771.4. [Q01113-1]
CCDS59180.1. [Q01113-3]
PIRB45268.
RefSeqNP_002177.2. NM_002186.2. [Q01113-1]
NP_789743.2. NM_176786.1. [Q01113-3]
UniGeneHs.406228.

3D structure databases

ProteinModelPortalQ01113.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109795. 4 interactions.
DIPDIP-3156N.
IntActQ01113. 2 interactions.
MINTMINT-120360.
STRING9606.ENSP00000244174.

PTM databases

PhosphoSiteQ01113.

Polymorphism databases

DMDM116242526.

Proteomic databases

PaxDbQ01113.
PRIDEQ01113.

Protocols and materials databases

DNASU3581.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000244174; ENSP00000244174; ENSG00000124334. [Q01113-1]
ENST00000369423; ENSP00000358431; ENSG00000124334. [Q01113-3]
ENST00000424344; ENSP00000388918; ENSG00000124334. [Q01113-2]
GeneID3581.
KEGGhsa:3581.
UCSCuc004fnu.1. human.
uc004fnv.1. human. [Q01113-1]

Organism-specific databases

CTD3581.
GeneCardsGC0XP155227.
H-InvDBHIX0176548.
HIX0177609.
HGNCHGNC:6030. IL9R.
HPACAB010497.
MIM300007. gene.
neXtProtNX_Q01113.
PharmGKBPA29846.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45141.
HOGENOMHOG000232001.
HOVERGENHBG005032.
InParanoidQ01113.
KOK05073.
OMAHEDLQGM.
OrthoDBEOG7TQV0Z.
PhylomeDBQ01113.
TreeFamTF337874.

Enzyme and pathway databases

SignaLinkQ01113.

Gene expression databases

BgeeQ01113.
CleanExHS_IL9R.
GenevestigatorQ01113.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR003961. Fibronectin_type3.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view]
SUPFAMSSF49265. SSF49265. 1 hit.
PROSITEPS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiInterleukin-9_receptor.
GenomeRNAi3581.
NextBio13997.
PROQ01113.
SOURCESearch...

Entry information

Entry nameIL9R_HUMAN
AccessionPrimary (citable) accession number: Q01113
Secondary accession number(s): B9ZVT0 expand/collapse secondary AC list , Q14634, Q8WWU1, Q96TF0
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 143 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries