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Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CDw127) (CD antigen CD127)

 IL7RA_HUMAN             Reviewed;         459 AA.
P16871; B2RCS6; B4DVT1; Q05CU8; Q6NSP4; Q6NWM0; Q6NWM1; Q6NWM2;
Q6NWM3; Q6SV45; Q9UPC1;
01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
12-SEP-2018, sequence version 3.
13-FEB-2019, entry version 195.
RecName: Full=Interleukin-7 receptor subunit alpha;
Short=IL-7 receptor subunit alpha;
Short=IL-7R subunit alpha;
Short=IL-7R-alpha;
Short=IL-7RA;
AltName: Full=CDw127;
AltName: CD_antigen=CD127;
Flags: Precursor;
Name=IL7R;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, AND
VARIANTS THR-66; ILE-138 AND VAL-356.
TISSUE=B-cell;
PubMed=2317865; DOI=10.1016/0092-8674(90)90342-C;
Goodwin R.G., Friend D., Ziegler S.F., Jerzy R., Falk B.A., Gimpel S.,
Cosman D., Dower S.K., March C.J., Namen A.E., Park L.S.;
"Cloning of the human and murine interleukin-7 receptors:
demonstration of a soluble form and homology to a new receptor
superfamily.";
Cell 60:941-951(1990).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
PubMed=2038316; DOI=10.1128/MCB.11.6.3052;
Pleiman C.M., Gimpel S.D., Park L.S., Harada H., Taniguchi T.,
Ziegler S.F.;
"Organization of the murine and human interleukin-7 receptor genes:
two mRNAs generated by differential splicing and presence of a type I-
interferon-inducible promoter.";
Mol. Cell. Biol. 11:3052-3059(1991).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), INVOLVEMENT IN
T(-)B(+)NK(+) SCID, AND VARIANTS THR-66; ILE-138 AND ILE-244.
PubMed=9843216; DOI=10.1038/3877;
Puel A., Ziegler S.F., Buckley R.H., Leonard W.J.;
"Defective IL7R expression in T(-)B(+)NK(+) severe combined
immunodeficiency.";
Nat. Genet. 20:394-397(1998).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), AND
VARIANTS THR-66; ILE-138 AND VAL-356.
TISSUE=Spleen;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANTS THR-66;
ASP-113; ILE-138 AND ILE-244.
SeattleSNPs variation discovery resource;
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15372022; DOI=10.1038/nature02919;
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T.,
Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M.,
Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K.,
Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C.,
Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M.,
Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A.,
Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M.,
Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M.,
Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S.,
Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
"The DNA sequence and comparative analysis of human chromosome 5.";
Nature 431:268-274(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
THR-66; ILE-138 AND VAL-356.
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 21-239 IN COMPLEX WITH IL7,
SUBUNIT, GLYCOSYLATION AT ASN-49; ASN-65 AND ASN-151, AND DISULFIDE
BONDS.
PubMed=19141282; DOI=10.1016/j.str.2008.10.019;
McElroy C.A., Dohm J.A., Walsh S.T.;
"Structural and biophysical studies of the human IL-7/IL-7Ralpha
complex.";
Structure 17:54-65(2009).
[9]
INVOLVEMENT IN T(-)B(+)NK(+) SCID, AND VARIANT T(-)B(+)NK(+) SCID
SER-132.
PubMed=11023514;
Roifman C.M., Zhang J., Chitayat D., Sharfe N.;
"A partial deficiency of interleukin-7R alpha is sufficient to
abrogate T-cell development and cause severe combined
immunodeficiency.";
Blood 96:2803-2807(2000).
[10]
VARIANT ILE-244, AND ASSOCIATION WITH MS3.
PubMed=17660817; DOI=10.1038/ng2103;
Gregory S.G., Schmidt S., Seth P., Oksenberg J.R., Hart J., Prokop A.,
Caillier S.J., Ban M., Goris A., Barcellos L.F., Lincoln R.,
McCauley J.L., Sawcer S.J., Compston D.A., Dubois B., Hauser S.L.,
Garcia-Blanco M.A., Pericak-Vance M.A., Haines J.L.;
"Interleukin 7 receptor alpha chain (IL7R) shows allelic and
functional association with multiple sclerosis.";
Nat. Genet. 39:1083-1091(2007).
-!- FUNCTION: Receptor for interleukin-7. Also acts as a receptor for
thymic stromal lymphopoietin (TSLP).
-!- SUBUNIT: The IL7 receptor is a heterodimer of IL7R and IL2RG. The
TSLP receptor is a heterodimer of CRLF2 and IL7R.
{ECO:0000269|PubMed:19141282}.
-!- INTERACTION:
P13232:IL7; NbExp=10; IntAct=EBI-80490, EBI-80516;
-!- SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I
membrane protein.
-!- SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass type I
membrane protein.
-!- SUBCELLULAR LOCATION: Isoform 4: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1; Synonyms=H20;
IsoId=P16871-1; Sequence=Displayed;
Name=3; Synonyms=H1;
IsoId=P16871-2; Sequence=VSP_001714;
Name=4; Synonyms=H6, Secreted;
IsoId=P16871-3; Sequence=VSP_001713;
Name=2; Synonyms=Secreted;
IsoId=P16871-4; Sequence=VSP_012618, VSP_012619;
-!- DOMAIN: The WSXWS motif appears to be necessary for proper protein
folding and thereby efficient intracellular transport and cell-
surface receptor binding.
-!- DOMAIN: The box 1 motif is required for JAK interaction and/or
activation.
-!- PTM: N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly
than the unglycosylated form. {ECO:0000269|PubMed:19141282}.
-!- DISEASE: Severe combined immunodeficiency autosomal recessive T-
cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+)
SCID) [MIM:608971]: A form of severe combined immunodeficiency
(SCID), a genetically and clinically heterogeneous group of rare
congenital disorders characterized by impairment of both humoral
and cell-mediated immunity, leukopenia, and low or absent antibody
levels. Patients present in infancy recurrent, persistent
infections by opportunistic organisms. The common characteristic
of all types of SCID is absence of T-cell-mediated cellular
immunity due to a defect in T-cell development.
{ECO:0000269|PubMed:11023514, ECO:0000269|PubMed:9843216}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Multiple sclerosis 3 (MS3) [MIM:612595]: A
multifactorial, inflammatory, demyelinating disease of the central
nervous system. Sclerotic lesions are characterized by
perivascular infiltration of monocytes and lymphocytes and appear
as indurated areas in pathologic specimens (sclerosis in plaques).
The pathological mechanism is regarded as an autoimmune attack of
the myelin sheath, mediated by both cellular and humoral immunity.
Clinical manifestations include visual loss, extra-ocular movement
disorders, paresthesias, loss of sensation, weakness, dysarthria,
spasticity, ataxia and bladder dysfunction. Genetic and
environmental factors influence susceptibility to the disease.
{ECO:0000269|PubMed:17660817}. Note=Disease susceptibility is
associated with variations affecting the gene represented in this
entry. A polymorphism at position 244 strongly influences
susceptibility to multiple sclerosis. Overtransmission of the
major 'C' allele coding for Thr-244 is detected in offspring
affected with multiple sclerosis. In vitro analysis of transcripts
from minigenes containing either 'C' allele (Thr-244) or 'T'
allele (Ile-244) shows that the 'C' allele results in an
approximately two-fold increase in the skipping of exon 6, leading
to increased production of a soluble form of IL7R. Thus, the
multiple sclerosis associated 'C' risk allele of IL7R would
probably decrease membrane-bound expression of IL7R. As this risk
allele is common in the general population, some additional
triggers are probably required for the development and progression
of MS.
-!- SIMILARITY: Belongs to the type I cytokine receptor family. Type 4
subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH20717.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=IL7Rbase; Note=IL7R mutation db;
URL="http://structure.bmc.lu.se/idbase/IL7Rbase/";
-!- WEB RESOURCE: Name=SeattleSNPs;
URL="http://pga.gs.washington.edu/data/il7r/";
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EMBL; M29696; AAA59157.1; -; mRNA.
EMBL; AF043129; AAC83204.1; -; Genomic_DNA.
EMBL; AF043123; AAC83204.1; JOINED; Genomic_DNA.
EMBL; AF043124; AAC83204.1; JOINED; Genomic_DNA.
EMBL; AF043125; AAC83204.1; JOINED; Genomic_DNA.
EMBL; AF043126; AAC83204.1; JOINED; Genomic_DNA.
EMBL; AF043127; AAC83204.1; JOINED; Genomic_DNA.
EMBL; AF043128; AAC83204.1; JOINED; Genomic_DNA.
EMBL; AK301220; BAG62793.1; -; mRNA.
EMBL; AK315251; BAG37673.1; -; mRNA.
EMBL; AY449709; AAR08908.1; -; Genomic_DNA.
EMBL; AC112204; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC020717; AAH20717.1; ALT_SEQ; mRNA.
EMBL; BC067537; AAH67537.1; -; mRNA.
EMBL; BC067538; AAH67538.1; -; mRNA.
EMBL; BC067539; AAH67539.1; -; mRNA.
EMBL; BC067540; AAH67540.1; -; mRNA.
EMBL; BC069999; AAH69999.1; -; mRNA.
CCDS; CCDS3911.1; -. [P16871-1]
PIR; A34791; A34791.
PIR; B34791; B34791.
PIR; C34791; C34791.
RefSeq; NP_002176.2; NM_002185.3. [P16871-1]
UniGene; Hs.591742; -.
PDB; 3DI2; X-ray; 2.70 A; B/D=21-239.
PDB; 3DI3; X-ray; 2.90 A; B=21-239.
PDB; 3UP1; X-ray; 2.15 A; A/B=21-239.
PDB; 5J11; X-ray; 2.56 A; B=21-236.
PDBsum; 3DI2; -.
PDBsum; 3DI3; -.
PDBsum; 3UP1; -.
PDBsum; 5J11; -.
ProteinModelPortal; P16871; -.
SMR; P16871; -.
BioGrid; 109789; 122.
DIP; DIP-3045N; -.
ELM; P16871; -.
IntAct; P16871; 10.
STRING; 9606.ENSP00000306157; -.
GuidetoPHARMACOLOGY; 1698; -.
iPTMnet; P16871; -.
PhosphoSitePlus; P16871; -.
BioMuta; IL7R; -.
DMDM; 215274000; -.
PaxDb; P16871; -.
PeptideAtlas; P16871; -.
PRIDE; P16871; -.
ProteomicsDB; 53396; -.
ProteomicsDB; 53397; -. [P16871-2]
ProteomicsDB; 53398; -. [P16871-3]
ProteomicsDB; 53399; -. [P16871-4]
DNASU; 3575; -.
Ensembl; ENST00000303115; ENSP00000306157; ENSG00000168685. [P16871-1]
Ensembl; ENST00000506850; ENSP00000421207; ENSG00000168685. [P16871-3]
GeneID; 3575; -.
KEGG; hsa:3575; -.
UCSC; uc003jjs.5; human. [P16871-1]
CTD; 3575; -.
DisGeNET; 3575; -.
EuPathDB; HostDB:ENSG00000168685.14; -.
GeneCards; IL7R; -.
H-InvDB; HIX0024815; -.
HGNC; HGNC:6024; IL7R.
HPA; CAB010215; -.
MalaCards; IL7R; -.
MIM; 146661; gene.
MIM; 608971; phenotype.
MIM; 612595; phenotype.
neXtProt; NX_P16871; -.
OpenTargets; ENSG00000168685; -.
Orphanet; 39041; Omenn syndrome.
Orphanet; 169154; T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency.
PharmGKB; PA29840; -.
eggNOG; ENOG410IGXR; Eukaryota.
eggNOG; ENOG410YWZG; LUCA.
GeneTree; ENSGT00510000048500; -.
HOVERGEN; HBG055773; -.
InParanoid; P16871; -.
KO; K05072; -.
OrthoDB; 617812at2759; -.
PhylomeDB; P16871; -.
TreeFam; TF336573; -.
Reactome; R-HSA-1266695; Interleukin-7 signaling.
Reactome; R-HSA-8856825; Cargo recognition for clathrin-mediated endocytosis.
Reactome; R-HSA-8856828; Clathrin-mediated endocytosis.
SignaLink; P16871; -.
SIGNOR; P16871; -.
ChiTaRS; IL7R; human.
EvolutionaryTrace; P16871; -.
GeneWiki; Interleukin-7_receptor-%CE%B1; -.
GenomeRNAi; 3575; -.
PRO; PR:P16871; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000168685; Expressed in 157 organ(s), highest expression level in blood.
ExpressionAtlas; P16871; baseline and differential.
Genevisible; P16871; HS.
GO; GO:0030665; C:clathrin-coated vesicle membrane; TAS:Reactome.
GO; GO:0009897; C:external side of plasma membrane; IEA:Ensembl.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0003823; F:antigen binding; TAS:ProtInc.
GO; GO:0004896; F:cytokine receptor activity; IDA:UniProtKB.
GO; GO:0004917; F:interleukin-7 receptor activity; TAS:ProtInc.
GO; GO:0042100; P:B cell proliferation; IEA:Ensembl.
GO; GO:0000902; P:cell morphogenesis; IEA:Ensembl.
GO; GO:0007166; P:cell surface receptor signaling pathway; TAS:ProtInc.
GO; GO:0048872; P:homeostasis of number of cells; IEA:Ensembl.
GO; GO:0006955; P:immune response; TAS:ProtInc.
GO; GO:0002377; P:immunoglobulin production; IEA:Ensembl.
GO; GO:0038111; P:interleukin-7-mediated signaling pathway; TAS:Reactome.
GO; GO:0048535; P:lymph node development; IEA:Ensembl.
GO; GO:0061024; P:membrane organization; TAS:Reactome.
GO; GO:0070233; P:negative regulation of T cell apoptotic process; IEA:Ensembl.
GO; GO:0001915; P:negative regulation of T cell mediated cytotoxicity; IEA:Ensembl.
GO; GO:0008284; P:positive regulation of cell population proliferation; IDA:UniProtKB.
GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
GO; GO:1904894; P:positive regulation of receptor signaling pathway via STAT; IDA:UniProtKB.
GO; GO:0033089; P:positive regulation of T cell differentiation in thymus; IEA:Ensembl.
GO; GO:0008361; P:regulation of cell size; IEA:Ensembl.
GO; GO:0000018; P:regulation of DNA recombination; TAS:ProtInc.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
GO; GO:0030217; P:T cell differentiation; IEA:Ensembl.
CDD; cd00063; FN3; 1.
Gene3D; 2.60.40.10; -; 1.
InterPro; IPR003961; FN3_dom.
InterPro; IPR036116; FN3_sf.
InterPro; IPR003531; Hempt_rcpt_S_F1_CS.
InterPro; IPR013783; Ig-like_fold.
Pfam; PF00041; fn3; 1.
SUPFAM; SSF49265; SSF49265; 1.
PROSITE; PS50853; FN3; 1.
PROSITE; PS01355; HEMATOPO_REC_S_F1; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Disease mutation; Disulfide bond; Glycoprotein; Membrane;
Phosphoprotein; Polymorphism; Receptor; Reference proteome; SCID;
Secreted; Signal; Transmembrane; Transmembrane helix.
SIGNAL 1 20
CHAIN 21 459 Interleukin-7 receptor subunit alpha.
/FTId=PRO_0000010909.
TOPO_DOM 21 239 Extracellular. {ECO:0000255}.
TRANSMEM 240 264 Helical. {ECO:0000255}.
TOPO_DOM 265 459 Cytoplasmic. {ECO:0000255}.
DOMAIN 131 231 Fibronectin type-III.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
MOTIF 217 221 WSXWS motif.
MOTIF 272 280 Box 1 motif.
COMPBIAS 184 189 Ser/Thr-rich.
MOD_RES 282 282 Phosphothreonine; by PKC. {ECO:0000255}.
CARBOHYD 49 49 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19141282}.
CARBOHYD 65 65 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19141282}.
CARBOHYD 151 151 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19141282}.
CARBOHYD 182 182 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 232 232 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 233 233 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 42 57 {ECO:0000269|PubMed:19141282}.
DISULFID 74 82 {ECO:0000269|PubMed:19141282}.
DISULFID 108 118 {ECO:0000269|PubMed:19141282}.
VAR_SEQ 237 459 EMDPILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLP
DHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARD
EVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPE
SFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHV
YQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSL
GSNQEEAYVTMSSFYQNQ -> LSLSYGPVSPIIRRLWNIF
VRNQEK (in isoform 4).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_001713.
VAR_SEQ 237 252 EMDPILLTISILSFFS -> LSLSYGPVSPIIRQEL (in
isoform 2). {ECO:0000303|PubMed:2038316}.
/FTId=VSP_012618.
VAR_SEQ 253 459 Missing (in isoform 2).
{ECO:0000303|PubMed:2038316}.
/FTId=VSP_012619.
VAR_SEQ 293 459 NLNVSFNPESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLE
ESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNV
SACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTL
PPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFY
QNQ -> VSVFGA (in isoform 3).
{ECO:0000305}.
/FTId=VSP_001714.
VARIANT 66 66 I -> T (in dbSNP:rs1494558).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:2317865,
ECO:0000269|PubMed:9843216,
ECO:0000269|Ref.5}.
/FTId=VAR_021286.
VARIANT 113 113 E -> D (in dbSNP:rs11567735).
{ECO:0000269|Ref.5}.
/FTId=VAR_021287.
VARIANT 132 132 P -> S (in T(-)B(+)NK(+) SCID;
dbSNP:rs104893894).
{ECO:0000269|PubMed:11023514}.
/FTId=VAR_034870.
VARIANT 138 138 V -> I (in dbSNP:rs1494555).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:2317865,
ECO:0000269|PubMed:9843216,
ECO:0000269|Ref.5}.
/FTId=VAR_021288.
VARIANT 244 244 T -> I (in dbSNP:rs6897932).
{ECO:0000269|PubMed:17660817,
ECO:0000269|PubMed:9843216,
ECO:0000269|Ref.5}.
/FTId=VAR_021289.
VARIANT 356 356 I -> V (in dbSNP:rs3194051).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:2038316,
ECO:0000269|PubMed:2317865}.
/FTId=VAR_021290.
VARIANT 414 414 T -> M (in dbSNP:rs2229232).
/FTId=VAR_047742.
CONFLICT 39 39 S -> T (in Ref. 7; AAH67539).
{ECO:0000305}.
CONFLICT 52 52 Q -> R (in Ref. 7; AAH67538).
{ECO:0000305}.
CONFLICT 384 384 S -> P (in Ref. 7; AAH67537).
{ECO:0000305}.
CONFLICT 386 386 R -> G (in Ref. 7; AAH67539).
{ECO:0000305}.
HELIX 35 38 {ECO:0000244|PDB:3UP1}.
STRAND 40 49 {ECO:0000244|PDB:3UP1}.
STRAND 52 61 {ECO:0000244|PDB:3UP1}.
STRAND 69 79 {ECO:0000244|PDB:3UP1}.
STRAND 81 84 {ECO:0000244|PDB:3UP1}.
STRAND 86 88 {ECO:0000244|PDB:3UP1}.
STRAND 91 97 {ECO:0000244|PDB:3UP1}.
STRAND 102 111 {ECO:0000244|PDB:3UP1}.
STRAND 114 122 {ECO:0000244|PDB:3UP1}.
HELIX 123 125 {ECO:0000244|PDB:3UP1}.
STRAND 133 140 {ECO:0000244|PDB:3UP1}.
TURN 141 144 {ECO:0000244|PDB:3UP1}.
STRAND 145 151 {ECO:0000244|PDB:3UP1}.
HELIX 153 156 {ECO:0000244|PDB:3UP1}.
STRAND 158 160 {ECO:0000244|PDB:3UP1}.
STRAND 163 173 {ECO:0000244|PDB:3UP1}.
STRAND 179 191 {ECO:0000244|PDB:3UP1}.
HELIX 192 194 {ECO:0000244|PDB:3UP1}.
STRAND 200 209 {ECO:0000244|PDB:3UP1}.
STRAND 211 213 {ECO:0000244|PDB:3DI3}.
STRAND 224 227 {ECO:0000244|PDB:3UP1}.
SEQUENCE 459 AA; 51579 MW; EF50BF2615EEF50C CRC64;
MTILGTTFGM VFSLLQVVSG ESGYAQNGDL EDAELDDYSF SCYSQLEVNG SQHSLTCAFE
DPDVNITNLE FEICGALVEV KCLNFRKLQE IYFIETKKFL LIGKSNICVK VGEKSLTCKK
IDLTTIVKPE APFDLSVVYR EGANDFVVTF NTSHLQKKYV KVLMHDVAYR QEKDENKWTH
VNLSSTKLTL LQRKLQPAAM YEIKVRSIPD HYFKGFWSEW SPSYYFRTPE INNSSGEMDP
ILLTISILSF FSVALLVILA CVLWKKRIKP IVWPSLPDHK KTLEHLCKKP RKNLNVSFNP
ESFLDCQIHR VDDIQARDEV EGFLQDTFPQ QLEESEKQRL GGDVQSPNCP SEDVVITPES
FGRDSSLTCL AGNVSACDAP ILSSSRSLDC RESGKNGPHV YQDLLLSLGT TNSTLPPPFS
LQSGILTLNP VAQGQPILTS LGSNQEEAYV TMSSFYQNQ


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Gentaur; yes we can

Pathways :
WP1566: Citrate cycle (TCA cycle)
WP1614: 1- and 2-Methylnaphthalene degradation
WP1655: Geraniol degradation
WP1963: The effect of Glucocorticoids on target gene expression
WP566: canonical wnt - zebrafish
WP2272: Pathogenic Escherichia coli infection
WP2292: Chemokine signaling pathway
WP1003: Ovarian Infertility Genes
WP1047: TNF-alpha NF-kB Signaling Pathway
WP1120: Ovarian Infertility Genes
WP1163: TNF-alpha NF-kB Signaling Pathway
WP1209: EBV LMP1 signaling
WP1224: EBV LMP1 signaling
WP1225: estrogen signalling
WP1340: Ovarian Infertility Genes
WP1369: TNF-alpha NF-kB Signaling Pathway
WP1434: Osteopontin Signaling
WP1487: TNF-alpha and mucus production in lung epythelium
WP1531: Vitamin D synthesis
WP1571: EBV LMP1 signaling
WP1584: Type II diabetes mellitus
WP1618: alpha-Linolenic acid metabolism
WP1772: Apoptosis Modulation and Signaling
WP1835: Interferon alpha/beta signaling
WP1904: RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways

Related Genes :
[IL7R] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CDw127) (CD antigen CD127)
[Il7r] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CD antigen CD127)
[IL7R] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CD antigen CD127)
[IL7R] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (IL7Ra) (CD antigen CD127)
[IL7R] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CD antigen CD127)
[IL4R IL4RA 582J2.1] Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124) [Cleaved into: Soluble interleukin-4 receptor subunit alpha (Soluble IL-4 receptor subunit alpha) (Soluble IL-4R-alpha) (sIL4Ralpha/prot) (IL-4-binding protein) (IL4-BP)]
[Il4r Il4ra] Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124) [Cleaved into: Soluble interleukin-4 receptor subunit alpha (Soluble IL-4 receptor subunit alpha) (Soluble IL-4R-alpha) (sIL4Ralpha/prot) (IL-4-binding protein) (IL4-BP)]
[IL15RA] Interleukin-15 receptor subunit alpha (IL-15 receptor subunit alpha) (IL-15R-alpha) (IL-15RA) (CD antigen CD215) [Cleaved into: Soluble interleukin-15 receptor subunit alpha (sIL-15 receptor subunit alpha) (sIL-15R-alpha) (sIL-15RA)]
[IL10RA IL10R] Interleukin-10 receptor subunit alpha (IL-10 receptor subunit alpha) (IL-10R subunit alpha) (IL-10RA) (CDw210a) (Interleukin-10 receptor subunit 1) (IL-10R subunit 1) (IL-10R1) (CD antigen CD210)
[IL2RG] Cytokine receptor common subunit gamma (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD antigen CD132)
[IL13RA1 IL13R IL13RA] Interleukin-13 receptor subunit alpha-1 (IL-13 receptor subunit alpha-1) (IL-13R subunit alpha-1) (IL-13R-alpha-1) (IL-13RA1) (Cancer/testis antigen 19) (CT19) (CD antigen CD213a1)
[IL1R1 IL1R IL1RA IL1RT1] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (CD121 antigen-like family member A) (Interleukin-1 receptor alpha) (IL-1R-alpha) (Interleukin-1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin-1 receptor type 1, membrane form (mIL-1R1) (mIL-1RI); Interleukin-1 receptor type 1, soluble form (sIL-1R1) (sIL-1RI)]
[IL6R] Interleukin-6 receptor subunit alpha (IL-6 receptor subunit alpha) (IL-6R subunit alpha) (IL-6R-alpha) (IL-6RA) (IL-6R 1) (Membrane glycoprotein 80) (gp80) (CD antigen CD126)
[Il3ra Sut-1] Interleukin-3 receptor subunit alpha (IL-3 receptor subunit alpha) (IL-3R subunit alpha) (IL-3R-alpha) (IL-3RA) (Interleukin-3 receptor class II alpha chain) (CD antigen CD123)
[Il4r Il4ra] Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124)
[Il1r1 Il-1r1 Il1ra] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (CD121 antigen-like family member A) (Interleukin-1 receptor alpha) (IL-1R-alpha) (Interleukin-1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin-1 receptor type 1, membrane form (mIL-1R1) (mIL-1RI); Interleukin-1 receptor type 1, soluble form (sIL-1R1) (sIL-1RI)]
[IL31RA CRL3 GPL UNQ6368/PRO21073/PRO21384] Interleukin-31 receptor subunit alpha (IL-31 receptor subunit alpha) (IL-31R subunit alpha) (IL-31R-alpha) (IL-31RA) (Cytokine receptor-like 3) (GLM-R) (hGLM-R) (Gp130-like monocyte receptor) (Gp130-like receptor) (ZcytoR17)
[IL13RA2 IL13R] Interleukin-13 receptor subunit alpha-2 (IL-13 receptor subunit alpha-2) (IL-13R subunit alpha-2) (IL-13R-alpha-2) (IL-13RA2) (Interleukin-13-binding protein) (CD antigen CD213a2)
[IL5RA IL5R] Interleukin-5 receptor subunit alpha (IL-5 receptor subunit alpha) (IL-5R subunit alpha) (IL-5R-alpha) (IL-5RA) (CDw125) (CD antigen CD125)
[IL18R1 IL1RRP] Interleukin-18 receptor 1 (IL-18R-1) (IL-18R1) (CD218 antigen-like family member A) (CDw218a) (IL1 receptor-related protein) (IL-1Rrp) (IL1R-rp) (Interleukin-18 receptor alpha) (IL-18R-alpha) (IL-18Ralpha) (CD antigen CD218a)
[IL3RA IL3R] Interleukin-3 receptor subunit alpha (IL-3 receptor subunit alpha) (IL-3R subunit alpha) (IL-3R-alpha) (IL-3RA) (CD antigen CD123)
[Il11ra1 Etl2 Il11ra] Interleukin-11 receptor subunit alpha-1 (IL-11 receptor subunit alpha-1) (IL-11R subunit alpha-1) (IL-11R-alpha-1) (IL-11RA1) (Enhancer trap locus homolog 2) (Etl-2) (Novel cytokine receptor 1) (NR-1) (NR1)
[Il1r1 Il1ra] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (CD121 antigen-like family member A) (Interleukin-1 receptor alpha) (IL-1R-alpha) (Interleukin-1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin-1 receptor type 1, membrane form (mIL-1R1) (mIL-1RI); Interleukin-1 receptor type 1, soluble form (sIL-1R1) (sIL-1RI)]
[IL6ST] Interleukin-6 receptor subunit beta (IL-6 receptor subunit beta) (IL-6R subunit beta) (IL-6R-beta) (IL-6RB) (CDw130) (Interleukin-6 signal transducer) (Membrane glycoprotein 130) (gp130) (Oncostatin-M receptor subunit alpha) (CD antigen CD130)
[Il6st] Interleukin-6 receptor subunit beta (IL-6 receptor subunit beta) (IL-6R subunit beta) (IL-6R-beta) (IL-6RB) (Interleukin-6 signal transducer) (Membrane glycoprotein 130) (gp130) (Oncostatin-M receptor subunit alpha) (CD antigen CD130)
[IL27RA CRL1 TCCR WSX1 UNQ296/PRO336] Interleukin-27 receptor subunit alpha (IL-27 receptor subunit alpha) (IL-27R subunit alpha) (IL-27R-alpha) (IL-27RA) (Cytokine receptor WSX-1) (Cytokine receptor-like 1) (Type I T-cell cytokine receptor) (TCCR) (ZcytoR1)
[IL11RA] Interleukin-11 receptor subunit alpha (IL-11 receptor subunit alpha) (IL-11R subunit alpha) (IL-11R-alpha) (IL-11RA)
[IFNLR1 IL28RA LICR2] Interferon lambda receptor 1 (IFN-lambda receptor 1) (IFN-lambda-R1) (Cytokine receptor class-II member 12) (Cytokine receptor family 2 member 12) (CRF2-12) (Interleukin-28 receptor subunit alpha) (IL-28 receptor subunit alpha) (IL-28R-alpha) (IL-28RA) (Likely interleukin or cytokine receptor 2) (LICR2)
[Il18r1] Interleukin-18 receptor 1 (IL-18R-1) (IL-18R1) (CD218 antigen-like family member A) (IL1 receptor-related protein) (IL-1Rrp) (IL1R-rp) (Interleukin-18 receptor alpha) (IL-18R-alpha) (IL-18Ralpha) (CD antigen CD218a)
[IL18RAP IL1R7] Interleukin-18 receptor accessory protein (IL-18 receptor accessory protein) (IL-18RAcP) (Accessory protein-like) (AcPL) (CD218 antigen-like family member B) (CDw218b) (IL-1R accessory protein-like) (IL-1RAcPL) (Interleukin-1 receptor 7) (IL-1R-7) (IL-1R7) (Interleukin-18 receptor accessory protein-like) (Interleukin-18 receptor beta) (IL-18R-beta) (IL-18Rbeta) (CD antigen CD218b)

Bibliography :
[30003111] CD4CD25CD127FoxP Regulatory T Cell Subpopulations in the Bone Marrow and Peripheral Blood of Children with ALL: Brief Report.
[29262860] Increased CD127+ and decreased CD57+ T cell expression levels in HIV-infected patients on NRTI-sparing regimens.
[29244714] Identification of Novel Human NK Cell Progenitor Subsets.
[28400540] CD56 NK IL-7Rα expression negatively associates with HCV level, and IL-7-induced NK function is impaired during HCV and HIV infections.
[27455951] High antigen levels induce an exhausted phenotype in a chronic infection without impairing T cell expansion and survival.
[27215784] The differential frequency of Lineage(-)CRTH2(-)CD45(+)NKp44(-)CD117(-)CD127(+)ILC subset in the inflamed terminal ileum of patients with Crohn's disease.
[30475541] Phenotypic and functional characteristics of dendritic cells and contents of suppressor cell populations in peripheral blood of breast cancer patients.
[26282876] Interleukin 27R regulates CD4+ T cell phenotype and impacts protective immunity during Mycobacterium tuberculosis infection.
[25966995] The composition and differentiation potential of the duodenal intraepithelial innate lymphocyte compartment is altered in coeliac disease.
[25948100] Higher frequency of regulatory T cells in granulocyte colony-stimulating factor (G-CSF)-primed bone marrow grafts compared with G-CSF-primed peripheral blood grafts.