MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001617

UniProt Annotations

Entry Information
Gene Nameinterleukin 7 receptor
Protein EntryIL7RA_HUMAN
UniProt IDP16871
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=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;
DiseaseMultiple 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.
DiseaseSevere 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe box 1 motif is required for JAK interaction and/or activation.
DomainThe WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding.
FunctionReceptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
InteractionP13232:IL7; NbExp=3; IntAct=EBI-80490, EBI-80516;
PtmN-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form. {ECO:0000269|PubMed:19141282}.
Sequence CautionSequence=AAH20717.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
SimilarityBelongs to the type I cytokine receptor family. Type 4 subfamily. {ECO:0000305}.
SimilarityContains 1 fibronectin type-III domain. {ECO:0000255|PROSITE-ProRule:PRU00316}.
Subcellular LocationIsoform 1: Cell membrane; Single-pass type I membrane protein.
Subcellular LocationIsoform 3: Cell membrane; Single-pass type I membrane protein.
Subcellular LocationIsoform 4: Secreted.
SubunitThe IL7 receptor is a heterodimer of IL7R and IL2RG. The TSLP receptor is a heterodimer of CRLF2 and IL7R. {ECO:0000269|PubMed:19141282}.
Web ResourceName=IL7Rbase; Note=IL7R mutation db; URL="http://structure.bmc.lu.se/idbase/IL7Rbase/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il7r/";
  logo