Q01113 (IL9R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Interleukin-9 receptor
Short name=IL-9 receptor
Short name=IL-9R

Alternative name(s):
CD_antigen=CD129

Gene names

Name:

IL9R

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	521 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 encoding 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.

Ontologies

Keywords
Cellular component	Cell membrane Membrane Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Receptor
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation Traceable author statement Ref.1. Source: ProtInc
Cellular_component	extracellular space Traceable author statement Ref.1. Source: ProtInc integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc
Molecular_function	interleukin-9 receptor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 40	40	Potential
	Chain	41 – 521	481	Interleukin-9 receptor		PRO_0000010911
Regions
	Topological domain	41 – 270	230	Extracellular Potential
	Transmembrane	271 – 291	21	Helical; Potential
	Topological domain	292 – 521	230	Cytoplasmic Potential
	Domain	150 – 244	95	Fibronectin type-III
	Motif	245 – 249	5	WSXWS motif
	Motif	301 – 309	9	Box 1 motif
	Compositional bias	429 – 438	10	Poly-Ser
	Compositional bias	439 – 442	4	Poly-Asn
Amino acid modifications
	Glycosylation	117	1	N-linked (GlcNAc...) Potential
	Glycosylation	156	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 21	21	Missing in isoform 2.		VSP_039025
	Alternative sequence	1 – 9	9	MGLGRCIWE → MPQTCDGTGQMHLGSNCCKN GQTLLQRTCHGVSCCGWWFQ AARSILGKGPSAQSLA in isoform 3.		VSP_046207
	Alternative sequence	85 – 154	70	SNQAP…PSDLQ → RLLAAHISASCGAVSAPSCC HLRQCSCHLTISPSLSTTAC LGGSRSAWWTRSTCPGDT in isoform 3.		VSP_046208
	Alternative sequence	297 – 307	11	VKRIFYQNVPS → LGWGPTGPVCC in isoform 3.		VSP_046209
	Alternative sequence	308 – 521	214	Missing in isoform 3.		VSP_046210
	Natural variant	63	1	R → K. Ref.4 Corresponds to variant rs3093495 [ dbSNP | Ensembl ].		VAR_038784
	Natural variant	239	1	E → Q. Ref.4 Corresponds to variant rs6522 [ dbSNP | Ensembl ].		VAR_014804
	Natural variant	288	1	Y → C. Ref.4 Corresponds to variant rs3093514 [ dbSNP | Ensembl ].		VAR_033920
	Natural variant	331	1	G → R. Ref.1 Ref.7 Corresponds to variant rs2230001 [ dbSNP | Ensembl ].		VAR_055348
	Natural variant	365	1	R → H. Corresponds to variant rs2228650 [ dbSNP | Ensembl ].		VAR_055349
Experimental info
	Sequence conflict	438	1	S → SS in AAA58679. Ref.1
	Sequence conflict	438	1	S → SS in AAL55435. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 07C40436466173F3	FASTA	521	57,147
	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
	Isoform 2 [UniParc]. Checksum: C79D0C8C1D330D8F	FASTA	500	54,686
	10 20 30 40 50 60 MGTWLLACIC ICTCVCLGVS VTGEGQGPRS RTFTCLTNNI LRIDCHWSAP ELGQGSSPWL 70 80 90 100 110 120 LFTSNQAPGG THKCILRGSE CTVVLPPEAV LVPSDNFTIT FHHCMSGREQ VSLVDPEYLP 130 140 150 160 170 180 RRHVKLDPPS DLQSNISSGH CILTWSISPA LEPMTTLLSY ELAFKKQEEA WEQAQHRDHI 190 200 210 220 230 240 VGVTWLILEA FELDPGFIHE ARLRVQMATL EDDVVEEERY TGQWSEWSQP VCFQAPQRQG 250 260 270 280 290 300 PLIPPWGWPG NTLVAVSIFL LLTGPTYLLF KLSPRVKRIF YQNVPSPAMF FQPLYSVHNG 310 320 330 340 350 360 NFQTWMGAHG AGVLLSQDCA GTPQGALEPC VQEATALLTC GPARPWKSVA LEEEQEGPGT 370 380 390 400 410 420 RLPGNLSSED VLPAGCTEWR VQTLAYLPQE DWAPTSLTRP APPDSEGSRS SSSSSSSNNN 430 440 450 460 470 480 NYCALGCYGG WHLSALPGNT QSSGPIPALA CGLSCDHQGL ETQQGVAWVL AGHCQRPGLH 490 500 EDLQGMLLPS VLSKARSWTF
	Isoform 3 [UniParc]. Checksum: BC2E46EF83989332	FASTA	342	37,389
	10 20 30 40 50 60 MPQTCDGTGQ MHLGSNCCKN GQTLLQRTCH GVSCCGWWFQ AARSILGKGP SAQSLAGWTL 70 80 90 100 110 120 ESEALRRDMG TWLLACICIC TCVCLGVSVT GEGQGPRSRT FTCLTNNILR IDCHWSAPEL 130 140 150 160 170 180 GQGSSPWLLF TRLLAAHISA SCGAVSAPSC CHLRQCSCHL TISPSLSTTA CLGGSRSAWW 190 200 210 220 230 240 TRSTCPGDTS NISSGHCILT WSISPALEPM TTLLSYELAF KKQEEAWEQA QHRDHIVGVT 250 260 270 280 290 300 WLILEAFELD PGFIHEARLR VQMATLEDDV VEEERYTGQW SEWSQPVCFQ APQRQGPLIP 310 320 330 340 PWGWPGNTLV AVSIFLLLTG PTYLLFKLSP RLGWGPTGPV CC

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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

SeattleSNPs

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.
IPI	IPI00005954. IPI00328860. IPI00956244.
PIR	B45268.
RefSeq	NP_002177.2. NM_002186.2. NP_789743.2. NM_176786.1.
UniGene	Hs.406228.
3D structure databases
ProteinModelPortal	Q01113.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-3156N.
IntAct	Q01113. 1 interaction.
MINT	MINT-120360.
STRING	9606.ENSP00000244174.
PTM databases
PhosphoSite	Q01113.
Polymorphism databases
DMDM	116242526.
Proteomic databases
PaxDb	Q01113.
PRIDE	Q01113.
Protocols and materials databases
DNASU	3581.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000244174; ENSP00000244174; ENSG00000124334. ENST00000369423; ENSP00000358431; ENSG00000124334. ENST00000424344; ENSP00000388918; ENSG00000124334.
GeneID	3581.
KEGG	hsa:3581.
UCSC	uc004fnv.1. human.
Organism-specific databases
CTD	3581.
GeneCards	GC0XP155227.
H-InvDB	HIX0176548. HIX0177609.
HGNC	HGNC:6030. IL9R.
HPA	CAB010497.
MIM	300007. gene.
neXtProt	NX_Q01113.
PharmGKB	PA29846.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45141.
HOGENOM	HOG000232001.
HOVERGEN	HBG005032.
InParanoid	Q01113.
KO	K05073.
OMA	WEGWTLE.
OrthoDB	EOG4B2SWW.
PhylomeDB	Q01113.
Gene expression databases
ArrayExpress	Q01113.
Bgee	Q01113.
CleanEx	HS_IL9R.
Genevestigator	Q01113.
GermOnline	ENSG00000124334. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.10. 1 hit.
InterPro	IPR003961. Fibronectin_type3. IPR003531. Hempt_rcpt_S_F1_CS. IPR013783. Ig-like_fold. [Graphical view]
SUPFAM	SSF49265. FN_III-like. 1 hit.
PROSITE	PS50853. FN3. False negative. PS01355. HEMATOPO_REC_S_F1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3581.
NextBio	13997.
SOURCE	Search...

Entry information

Entry name

IL9R_HUMAN

Accession

Primary (citable) accession number: Q01113
Secondary accession number(s): B9ZVT0 , Q14634, Q8WWU1, Q96TF0

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 131 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.