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Details on Person UniProt:P16871-2 IL7R
| Class:Id | ReferenceIsoform:148797 |
|---|---|
| _chainChangeLog | signal peptide:1-20 added on Fri February 6 2015;chain:21-459 added on Fri February 6 2015 |
| _displayName | UniProt:P16871-2 IL7R |
| _timestamp | 2025-02-21 19:18:46 |
| chain | signal peptide:1-20 chain:21-459 |
| checksum | EF50BF2615EEF50C |
| comment | 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. Interacts with CD53 (PubMed:31748347).INTERACTION 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.PTM Ubiquitinated by MARCHF8; leading to lysosomal degradation.DISEASE The disease is caused by variants affecting the gene represented in this entry.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.SIMILARITY Belongs to the type I cytokine receptor family. Type 4 subfamily.SEQUENCE CAUTION Contaminating sequence. Potential poly-A sequence.ONLINE INFORMATION IL7R mutation db |
| description | recommendedName: Interleukin-7 receptor subunit alpha shortName: IL-7 receptor subunit alpha shortName: IL-7R subunit alpha shortName: IL-7R-alpha shortName: IL-7RA alternativeName: CDw127 cdAntigenNameCD127/cdAntigenName |
| geneName | IL7R |
| identifier | P16871 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell membrane Disease variant Disulfide bond Glycoprotein Membrane Phosphoprotein Proteomics identification Receptor Reference proteome SCID Secreted Signal Transmembrane Transmembrane helix Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | IL7R |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8995478] ENSEMBL:ENSG00000168685 IL7R [Homo sapiens] |
| secondaryIdentifier | IL7RA_HUMAN B2RCS6 B4DVT1 Q05CU8 Q6NSP4 Q6NWM0 Q6NWM1 Q6NWM2 Q6NWM3 Q6SV45 Q9UPC1 |
| sequenceLength | 459 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P16871-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P16871-2 IL7R (148797)
