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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.
12-AUG-2020, entry version 205.
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:
P16871; Q6RW13-2: AGTRAP; NbExp=3; IntAct=EBI-80490, EBI-11522760;
P16871; O95236-2: APOL3; NbExp=3; IntAct=EBI-80490, EBI-11976321;
P16871; P27449: ATP6V0C; NbExp=3; IntAct=EBI-80490, EBI-721179;
P16871; Q8IX05: CD302; NbExp=3; IntAct=EBI-80490, EBI-14259393;
P16871; Q92520: FAM3C; NbExp=3; IntAct=EBI-80490, EBI-2876774;
P16871; P13232: IL7; NbExp=10; IntAct=EBI-80490, EBI-80516;
P16871; Q13021: MALL; NbExp=3; IntAct=EBI-80490, EBI-750078;
P16871; P11836: MS4A1; NbExp=3; IntAct=EBI-80490, EBI-2808234;
P16871; P31431: SDC4; NbExp=3; IntAct=EBI-80490, EBI-3913237;
P16871; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-80490, EBI-10171534;
P16871; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-80490, EBI-2852148;
P16871; O95183: VAMP5; NbExp=3; IntAct=EBI-80490, EBI-10191195;
-!- 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]
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.
PDB; 6P50; X-ray; 2.90 A; C=21-239.
PDB; 6P67; X-ray; 2.90 A; G/I/J/K=21-239.
PDBsum; 3DI2; -.
PDBsum; 3DI3; -.
PDBsum; 3UP1; -.
PDBsum; 5J11; -.
PDBsum; 6P50; -.
PDBsum; 6P67; -.
SMR; P16871; -.
BioGRID; 109789; 123.
DIP; DIP-3045N; -.
ELM; P16871; -.
IntAct; P16871; 18.
STRING; 9606.ENSP00000306157; -.
GuidetoPHARMACOLOGY; 1698; -.
GlyGen; P16871; 6 sites.
iPTMnet; P16871; -.
PhosphoSitePlus; P16871; -.
BioMuta; IL7R; -.
DMDM; 215274000; -.
MassIVE; P16871; -.
PaxDb; P16871; -.
PeptideAtlas; P16871; -.
PRIDE; P16871; -.
ProteomicsDB; 53396; -. [P16871-1]
ProteomicsDB; 53397; -. [P16871-2]
ProteomicsDB; 53398; -. [P16871-3]
ProteomicsDB; 53399; -. [P16871-4]
ABCD; P16871; 4 sequenced antibodies.
Antibodypedia; 4129; 1249 antibodies.
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; -.
HGNC; HGNC:6024; IL7R.
HPA; ENSG00000168685; Group enriched (blood, intestine, lung, lymphoid tissue).
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; ENOG502S4WE; Eukaryota.
GeneTree; ENSGT00510000048500; -.
HOGENOM; CLU_045398_0_0_1; -.
InParanoid; P16871; -.
KO; K05072; -.
OMA; KPIVWPS; -.
OrthoDB; 617812at2759; -.
PhylomeDB; P16871; -.
TreeFam; TF336573; -.
PathwayCommons; P16871; -.
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; -.
BioGRID-ORCS; 3575; 1 hit in 871 CRISPR screens.
ChiTaRS; IL7R; human.
EvolutionaryTrace; P16871; -.
GeneWiki; Interleukin-7_receptor-%CE%B1; -.
GenomeRNAi; 3575; -.
Pharos; P16871; Tbio.
PRO; PR:P16871; -.
Proteomes; UP000005640; Chromosome 5.
RNAct; P16871; protein.
Bgee; ENSG00000168685; Expressed in blood and 174 other tissues.
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; IPR040997; FN3_7.
InterPro; IPR003961; FN3_dom.
InterPro; IPR036116; FN3_sf.
InterPro; IPR003531; Hempt_rcpt_S_F1_CS.
InterPro; IPR013783; Ig-like_fold.
Pfam; PF00041; fn3; 1.
Pfam; PF18447; FN3_7; 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; Disease mutation;
Disulfide bond; Glycoprotein; Membrane; Phosphoprotein; Polymorphism;
Receptor; Reference proteome; SCID; Secreted; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1..20
CHAIN 21..459
/note="Interleukin-7 receptor subunit alpha"
/id="PRO_0000010909"
TOPO_DOM 21..239
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 240..264
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 265..459
/note="Cytoplasmic"
/evidence="ECO:0000255"
DOMAIN 131..231
/note="Fibronectin type-III"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
MOTIF 217..221
/note="WSXWS motif"
MOTIF 272..280
/note="Box 1 motif"
COMPBIAS 184..189
/note="Ser/Thr-rich"
MOD_RES 282
/note="Phosphothreonine; by PKC"
/evidence="ECO:0000255"
CARBOHYD 49
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000269|PubMed:19141282"
CARBOHYD 65
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000269|PubMed:19141282"
CARBOHYD 151
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000269|PubMed:19141282"
CARBOHYD 182
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
CARBOHYD 232
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
CARBOHYD 233
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
DISULFID 42..57
/evidence="ECO:0000269|PubMed:19141282"
DISULFID 74..82
/evidence="ECO:0000269|PubMed:19141282"
DISULFID 108..118
/evidence="ECO:0000269|PubMed:19141282"
VAR_SEQ 237..459
/note="EMDPILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCK
KPRKNLNVSFNPESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSP
NCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLL
SLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ -> LS
LSYGPVSPIIRRLWNIFVRNQEK (in isoform 4)"
/evidence="ECO:0000303|PubMed:14702039"
/id="VSP_001713"
VAR_SEQ 237..252
/note="EMDPILLTISILSFFS -> LSLSYGPVSPIIRQEL (in isoform 2)"
/evidence="ECO:0000303|PubMed:2038316"
/id="VSP_012618"
VAR_SEQ 253..459
/note="Missing (in isoform 2)"
/evidence="ECO:0000303|PubMed:2038316"
/id="VSP_012619"
VAR_SEQ 293..459
/note="NLNVSFNPESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDV
QSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQD
LLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ ->
VSVFGA (in isoform 3)"
/evidence="ECO:0000305"
/id="VSP_001714"
VARIANT 66
/note="I -> T (in dbSNP:rs1494558)"
/evidence="ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2317865,
ECO:0000269|PubMed:9843216, ECO:0000269|Ref.5"
/id="VAR_021286"
VARIANT 113
/note="E -> D (in dbSNP:rs11567735)"
/evidence="ECO:0000269|Ref.5"
/id="VAR_021287"
VARIANT 132
/note="P -> S (in T(-)B(+)NK(+) SCID; dbSNP:rs104893894)"
/evidence="ECO:0000269|PubMed:11023514"
/id="VAR_034870"
VARIANT 138
/note="V -> I (in dbSNP:rs1494555)"
/evidence="ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2317865,
ECO:0000269|PubMed:9843216, ECO:0000269|Ref.5"
/id="VAR_021288"
VARIANT 244
/note="T -> I (in dbSNP:rs6897932)"
/evidence="ECO:0000269|PubMed:17660817,
ECO:0000269|PubMed:9843216, ECO:0000269|Ref.5"
/id="VAR_021289"
VARIANT 356
/note="I -> V (in dbSNP:rs3194051)"
/evidence="ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2038316,
ECO:0000269|PubMed:2317865"
/id="VAR_021290"
VARIANT 414
/note="T -> M (in dbSNP:rs2229232)"
/id="VAR_047742"
CONFLICT 39
/note="S -> T (in Ref. 7; AAH67539)"
/evidence="ECO:0000305"
CONFLICT 52
/note="Q -> R (in Ref. 7; AAH67538)"
/evidence="ECO:0000305"
CONFLICT 384
/note="S -> P (in Ref. 7; AAH67537)"
/evidence="ECO:0000305"
CONFLICT 386
/note="R -> G (in Ref. 7; AAH67539)"
/evidence="ECO:0000305"
HELIX 35..38
/evidence="ECO:0000244|PDB:3UP1"
STRAND 40..49
/evidence="ECO:0000244|PDB:3UP1"
STRAND 52..61
/evidence="ECO:0000244|PDB:3UP1"
STRAND 69..79
/evidence="ECO:0000244|PDB:3UP1"
STRAND 81..84
/evidence="ECO:0000244|PDB:3UP1"
STRAND 86..88
/evidence="ECO:0000244|PDB:3UP1"
STRAND 91..97
/evidence="ECO:0000244|PDB:3UP1"
STRAND 102..111
/evidence="ECO:0000244|PDB:3UP1"
STRAND 114..122
/evidence="ECO:0000244|PDB:3UP1"
HELIX 123..125
/evidence="ECO:0000244|PDB:3UP1"
STRAND 133..140
/evidence="ECO:0000244|PDB:3UP1"
TURN 141..144
/evidence="ECO:0000244|PDB:3UP1"
STRAND 145..151
/evidence="ECO:0000244|PDB:3UP1"
HELIX 153..156
/evidence="ECO:0000244|PDB:3UP1"
STRAND 158..160
/evidence="ECO:0000244|PDB:3UP1"
STRAND 163..173
/evidence="ECO:0000244|PDB:3UP1"
STRAND 179..191
/evidence="ECO:0000244|PDB:3UP1"
HELIX 192..194
/evidence="ECO:0000244|PDB:3UP1"
STRAND 200..209
/evidence="ECO:0000244|PDB:3UP1"
STRAND 211..213
/evidence="ECO:0000244|PDB:3DI3"
STRAND 224..227
/evidence="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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WP219: Cytoplasmic tRNA Synthetases
WP457: TNF-alpha NF-kB Signaling Pathway
WP1003: Ovarian Infertility Genes
WP262: EBV LMP1 signaling
WP537: Translation Factors
WP1369: TNF-alpha NF-kB Signaling Pathway
WP231: TNF alpha Signaling Pathway
WP811: TNF-alpha NF-kB Signaling Pathway
WP1225: estrogen signalling
WP34: Ovarian Infertility Genes
WP2100: AhR pathway
WP402: ERK1 - ERK2 MAPK cascade
WP246: TNF-alpha NF-kB Signaling Pathway
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WP773: Ovarian Infertility Genes
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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)
[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)
[IL7R] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (IL7Ra) (CD antigen CD127)
[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)
[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)]
[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)]
[IL7R] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CD antigen CD127)
[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) [Cleaved into: Soluble interleukin-6 receptor subunit alpha (sIL6R)]
[IL3RA IL3R] Interleukin-3 receptor subunit alpha (IL-3 receptor subunit alpha) (IL-3R subunit alpha) (IL-3R-alpha) (IL-3RA) (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)
[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)
[IL1R1 IL1R IL1RA IL1RT1] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (EC 3.2.2.6) (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)]
[Il1r1 Il-1r1 Il1ra] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (EC 3.2.2.6) (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)
[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)
[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)
[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)
[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) [Cleaved into: Soluble interleukin-11 receptor subunit alpha (sIL-11R) (sIL-11RA) (sIL11RA)]
[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)
[IL11RA] Interleukin-11 receptor subunit alpha (IL-11 receptor subunit alpha) (IL-11R subunit alpha) (IL-11R-alpha) (IL-11RA) [Cleaved into: Soluble interleukin-11 receptor subunit alpha (sIL-11R) (sIL-11RA) (sIL11RA)]
[Il1r1 Il1ra] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (EC 3.2.2.6) (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)]
[IL18R1 IL1RRP] Interleukin-18 receptor 1 (IL-18R-1) (IL-18R1) (EC 3.2.2.6) (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)
[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)
[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)
[Il18r1] Interleukin-18 receptor 1 (IL-18R-1) (IL-18R1) (EC 3.2.2.6) (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)
[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)

Bibliography :
No related Items