Entity Details

Primary name IL7RA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP16871
EntryNameIL7RA_HUMAN
FullNameInterleukin-7 receptor subunit alpha
TaxID9606
Evidenceevidence at protein level
Length459
SequenceStatuscomplete
DateCreated1990-08-01
DateModified2021-06-02

Ontological Relatives

GenesIL7R

GO terms

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GOName
GO:0000018 regulation of DNA recombination
GO:0000902 cell morphogenesis
GO:0001915 negative regulation of T cell mediated cytotoxicity
GO:0003823 antigen binding
GO:0004896 cytokine receptor activity
GO:0004917 interleukin-7 receptor activity
GO:0005576 extracellular region
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006955 immune response
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0008284 positive regulation of cell population proliferation
GO:0008361 regulation of cell size
GO:0009897 external side of plasma membrane
GO:0010628 positive regulation of gene expression
GO:0016021 integral component of membrane
GO:0030217 T cell differentiation
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0038111 interleukin-7-mediated signaling pathway
GO:0042100 B cell proliferation
GO:0048535 lymph node development
GO:0048872 homeostasis of number of cells
GO:0050830 defense response to Gram-positive bacterium
GO:0061024 membrane organization
GO:0070233 negative regulation of T cell apoptotic process
GO:1904894 positive regulation of receptor signaling pathway via STAT

Subcellular Location

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Subcellular Location
Cell membrane
Secreted

Domains

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DomainNameCategoryType
IPR003531 Short hematopoietin receptor, family 1, conserved siteSiteConserved site
IPR003961 Fibronectin type IIIDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036116 Fibronectin type III superfamilyFamilyHomologous superfamily
IPR040997 IL-7Ralpha, fibronectin type III domainDomainDomain

Diseases

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Disease IDSourceNameDescription
608971 OMIMSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID)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. The disease is caused by variants affecting the gene represented in this entry.
612595 OMIMMultiple sclerosis 3 (MS3)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. 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.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
IL7RA_HUMANIL7_HUMANDIP, HPRD, UniProt10390077 11858939 19141282 8266077 details
IL7RA_HUMANVAMP5_HUMANIntAct32296183 details
IL7RA_HUMANFAM3C_HUMANIntAct32296183 details
IL7RA_HUMANCD302_HUMANIntAct32296183 details
IL7RA_HUMANTMM60_HUMANIntAct32296183 details
IL7RA_HUMANVATL_HUMANIntAct32296183 details
IL7RA_HUMANT120B_HUMANBioGRID, IntAct32296183 details
IL7RA_HUMANMALL_HUMANBioGRID, IntAct32296183 details
IL7RA_HUMANATRAP_HUMANBioGRID, IntAct32296183 details
IL7RA_HUMANCD20_HUMANBioGRID, IntAct32296183 details
IL7RA_HUMANAPOL3_HUMANBioGRID, IntAct32296183 details
IL7RA_HUMANSDC4_HUMANBioGRID, IntAct32296183 details
IL7RA_HUMANBRI3_HUMANIntAct30983867 details
IL7RA_HUMANRAD21_HUMANBioGRID22145905 details
IL7RA_HUMANKIT_HUMANBioGRID17554063 details
IL7RA_HUMANIL2RG_HUMANHPRD, IntAct23726671 8266077 details
IL7RA_HUMANFAK2_HUMANBioGRID, HPRD10702271 details
IL7RA_HUMANFYN_HUMANBioGRID, HPRD7515933 details
IL7RA_HUMANCBL_HUMANBioGRID20404156 details
IL7RA_HUMANJAK3_HUMANBioGRID, HPRD15996891 17554063 7481769 details
IL7RA_HUMANCISH_HUMANBioGRID27423467 27596538 details
IL7RA_HUMANSOCS1_HUMANBioGRID27423467 details
IL7RA_HUMANSOCS2_HUMANBioGRID27423467 details
IL7RA_HUMANP85A_HUMANBioGRID, HPRD7522165 details
IL7RA_HUMANSTA5A_HUMANHPRD7719938 details
IL7RA_HUMANSTA5B_HUMANHPRD7719938 details
IL7RA_HUMANSTAT3_HUMANHPRD7719938 details
IL7RA_HUMANJAK1_HUMANHPRD15996891 8647212 details
IL7RA_HUMANLYN_HUMANHPRD7515933 details
IL7RA_HUMANCRLF2_HUMANHPRD11418668 details
IL7RA_HUMANTSLP_HUMANHPRD11418668 details