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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.
25-NOV-2008, sequence version 2.
25-OCT-2017, entry version 183.
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
VARIANT 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), AND VARIANT VAL-356.
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), VARIANTS T(-)B(+)NK(+)
SCID ILE-66 AND VAL-138, AND VARIANT 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 VARIANT
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), VARIANTS
T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138, AND VARIANTS ASP-113 AND
ILE-244.
SeattleSNPs variation discovery resource;
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS
T(-)B(+)NK(+) SCID ILE-66 AND VAL-138.
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), VARIANTS
T(-)B(+)NK(+) SCID ILE-66 AND VAL-138, AND VARIANT 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]
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=7; IntAct=EBI-15750828, 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:15372022,
ECO:0000269|PubMed:15489334, 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.
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; 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.
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; 119.
DIP; DIP-3045N; -.
ELM; P16871; -.
IntAct; P16871; 3.
STRING; 9606.ENSP00000306157; -.
GuidetoPHARMACOLOGY; 1698; -.
iPTMnet; P16871; -.
PhosphoSitePlus; P16871; -.
BioMuta; IL7R; -.
DMDM; 215274000; -.
MaxQB; P16871; -.
PaxDb; P16871; -.
PeptideAtlas; P16871; -.
PRIDE; P16871; -.
DNASU; 3575; -.
Ensembl; ENST00000303115; ENSP00000306157; ENSG00000168685.
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; -.
Orphanet; 39041; Omenn syndrome.
Orphanet; 169154; T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency.
PharmGKB; PA29840; -.
eggNOG; ENOG410IGXR; Eukaryota.
eggNOG; ENOG410YWZG; LUCA.
HOVERGEN; HBG055773; -.
InParanoid; P16871; -.
KO; K05072; -.
OrthoDB; EOG091G0N4J; -.
PhylomeDB; P16871; -.
TreeFam; TF336573; -.
Reactome; R-HSA-1266695; Interleukin-7 signaling.
SignaLink; P16871; -.
SIGNOR; P16871; -.
EvolutionaryTrace; P16871; -.
GeneWiki; Interleukin-7_receptor-%CE%B1; -.
GenomeRNAi; 3575; -.
PRO; PR:P16871; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000168685; -.
CleanEx; HS_IL7R; -.
ExpressionAtlas; P16871; baseline and differential.
Genevisible; P16871; HS.
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:0004917; F:interleukin-7 receptor activity; TAS:ProtInc.
GO; GO:0042100; P:B cell proliferation; IEA:Ensembl.
GO; GO:0016049; P:cell growth; 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:0001915; P:negative regulation of T cell mediated cytotoxicity; IEA:Ensembl.
GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
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 T -> I (in T(-)B(+)NK(+) SCID;
dbSNP:rs1494558).
{ECO:0000269|PubMed:15372022,
ECO:0000269|PubMed:15489334,
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).
{ECO:0000269|PubMed:11023514}.
/FTId=VAR_034870.
VARIANT 138 138 I -> V (in T(-)B(+)NK(+) SCID;
dbSNP:rs1494555).
{ECO:0000269|PubMed:15372022,
ECO:0000269|PubMed:15489334,
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; 51581 MW; EE556426C22A182B CRC64;
MTILGTTFGM VFSLLQVVSG ESGYAQNGDL EDAELDDYSF SCYSQLEVNG SQHSLTCAFE
DPDVNTTNLE FEICGALVEV KCLNFRKLQE IYFIETKKFL LIGKSNICVK VGEKSLTCKK
IDLTTIVKPE APFDLSVIYR 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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