IL7R
entrez
3575
canonical
uniprot
P16871
canonical
ensembl
ENSG00000168685
resolver
ensp
ENSP00000306157
resolver
ensp
ENSP00000421207
resolver
genesymbol
IL7R
resolver
hgnc
HGNC:6024
resolver
uniprot
B2RCS6
resolver
uniprot
B4DVT1
resolver
uniprot
Q05CU8
resolver
uniprot
Q6NSP4
resolver
uniprot
Q6NWM0
resolver
uniprot
Q6NWM1
resolver
uniprot
Q6NWM2
resolver
uniprot
Q6NWM3
resolver
uniprot
Q6SV45
resolver
uniprot
Q9UPC1
resolver
uniprot_entry
IL7RA_HUMAN
resolver
uniprot_sec
B2RCS6
resolver
uniprot_sec
B4DVT1
resolver
uniprot_sec
Q05CU8
resolver
uniprot_sec
Q6NSP4
resolver
uniprot_sec
Q6NWM0
resolver
uniprot_sec
Q6NWM1
resolver
uniprot_sec
Q6NWM2
resolver
uniprot_sec
Q6NWM3
resolver
uniprot_sec
Q6SV45
resolver
uniprot_sec
Q9UPC1
resolver
amino_acid_sequence
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEVKCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYVKVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDPILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 104, severe combined (IMD104) [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 variants 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 variants 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.
uniprot
proteins
function
FUNCTION: Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
uniprot
proteins
mass_dalton
51579
uniprot
proteins
post_translational_modification
PTM: N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form. {ECO:0000269|PubMed:19141282}.; PTM: Ubiquitinated by MARCHF8; leading to lysosomal degradation. {ECO:0000269|PubMed:39311660}.
uniprot
proteins
protein_family
Type 4 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
11023514
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17660817
uniprot
proteins
pubmed
19141282
uniprot
proteins
pubmed
2038316
uniprot
proteins
pubmed
2317865
uniprot
proteins
pubmed
31748347
uniprot
proteins
pubmed
39311660
uniprot
proteins
pubmed
9843216
uniprot
proteins
sequence_length
459
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Single-pass type I membrane protein {ECO:0000269|PubMed:31748347}.; SUBCELLULAR LOCATION: [Isoform 3]: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: [Isoform 4]: Secreted.
uniprot
proteins
transmembrane_region
TRANSMEM 240..264; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins