IL7RA_HUMAN
Source:
BD_CD
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
IL7R
Protein names and data:
IL7RA_HUMAN
, Interleukin-7 receptor subunit alpha; IL-7 receptor subunit alpha; IL-7R subunit alpha; IL-7R-alpha; IL-7RA
, CDw127; CD127; Flags: Precursor
Lenght: 459 a.a.
Mass: 51581 Da
fasta formatted sequence
Function:
Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
Disease:
( OMIM:
146661
608971
612595
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry. 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.
Cellular location:
Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 3: Cell membrane; Single-pass type I membrane protein. Isoform 4: Secreted.
Genetic variants
66 - 66
T -> I (in T(-)/B(+)/NK(+) SCID; dbSNP:rs1494558). VAR_021286
1494558
113 - 113
E -> D (in dbSNP:rs11567735). VAR_021287
11567735
132 - 132
P -> S (in T(-)/B(+)/NK(+) SCID). VAR_034870
138 - 138
I -> V (in T(-)/B(+)/NK(+) SCID; dbSNP:rs1494555). VAR_021288
1494555
244 - 244
T -> I (in dbSNP:rs6897932). VAR_021289
6897932
356 - 356
I -> V (in dbSNP:rs3194051). VAR_021290
3194051
414 - 414
T -> M (in dbSNP:rs2229232). VAR_047742
2229232
Database cross-references
UniProt:
P16871
Ensembl:
ENST00000303115
MIM:
146661
MIM:
608971
MIM:
612595
neXtProt:
NX_P16871
Antibodypedia:
P16871
(may not find the protein thus also not any antibody)
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