IL27RA
entrez
9466
canonical
uniprot
Q6UWB1
canonical
ensembl
ENSG00000104998
resolver
ensembl
ENSG00000288185
resolver
ensp
ENSP00000263379
resolver
ensp
ENSP00000500946
resolver
enst
ENST00000263379
resolver
enst
ENST00000672064
resolver
genesymbol
IL27RA
resolver
genesymbol_syn
CRL1
resolver
genesymbol_syn
TCCR
resolver
genesymbol_syn
WSX1
resolver
hgnc
HGNC:17290
resolver
uniprot
A0N0L1
resolver
uniprot
O60624
resolver
uniprot_entry
I27RA_HUMAN
resolver
uniprot_sec
A0N0L1
resolver
uniprot_sec
O60624
resolver
amino_acid_sequence
MRGGRGAPFWLWPLPKLALLPLLWVLFQRTRPQGSAGPLQCYGVGPLGDLNCSWEPLGDLGAPSELHLQSQKYRSNKTQTVAVAAGRSWVAIPREQLTMSDKLLVWGTKAGQPLWPPVFVNLETQMKPNAPRLGPDVDFSEDDPLEATVHWAPPTWPSHKVLICQFHYRRCQEAAWTLLEPELKTIPLTPVEIQDLELATGYKVYGRCRMEKEEDLWGEWSPILSFQTPPSAPKDVWVSGNLCGTPGGEEPLLLWKAPGPCVQVSYKVWFWVGGRELSPEGITCCCSLIPSGAEWARVSAVNATSWEPLTNLSLVCLDSASAPRSVAVSSIAGSTELLVTWQPGPGEPLEHVVDWARDGDPLEKLNWVRLPPGNLSALLPGNFTVGVPYRITVTAVSASGLASASSVWGFREELAPLVGPTLWRLQDAPPGTPAIAWGEVPRHQLRGHLTHYTLCAQSGTSPSVCMNVSGNTQSVTLPDLPWGPCELWVTASTIAGQGPPGPILRLHLPDNTLRWKVLPGILFLWGLFLLGCGLSLATSGRCYHLRHKVLPRWVWEKVPDPANSSSGQPHMEQVPEAQPLGDLPILEVEEMEPPPVMESSQPAQATAPLDSGYEKHFLPTPEELGLLGPPRPQVLA
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 134 (Epstein-Barr virus-specific) (IMD134) [MIM:621405]: An autosomal recessive immunologic disorder characterized by the onset of severe Epstein-Barr virus-related illnesses in early childhood or in the second decade of life, with a nevertheless favorable outcome requiring a minimal treatment. Affected individuals typically present with EBV-positive infectious mononucleosis associated with sore throat, fever, lymphadenopathy, lymphocytosis, and hepatic involvement. Some may develop acute features of hemophagocytic lymphohistiocytosis. {ECO:0000269|PubMed:38509369}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Signal-transducing subunit for an heterodimeric cytokine composed of IL27/p28 and a soluble receptor EBI3 (PubMed:14764690, PubMed:36930708). Heterodimerizes with IL6ST/GP130 to mediate signal transduction in response to the heterodimeric cytokine IL27/p28-EBI3. This signaling system acts through STAT3 and STAT1 (PubMed:14764690, PubMed:38509369). Also acts as a signaling receptor as part of the humanin receptor complex; binding of MT-RNR2/humanin (HN) activates the intracellular JAK-STAT3 signaling pathway leading to neuroprotection (PubMed:19386761). Involved in the regulation of Th1-type immune responses (By similarity). Also appears to be involved in innate defense mechanisms (PubMed:14764690). {ECO:0000250|UniProtKB:O70394, ECO:0000269|PubMed:14764690, ECO:0000269|PubMed:19386761, ECO:0000269|PubMed:36930708, ECO:0000269|PubMed:38509369}.
uniprot
proteins
mass_dalton
69474
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
11057672
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14764690
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19386761
uniprot
proteins
pubmed
36930708
uniprot
proteins
pubmed
38509369
uniprot
proteins
pubmed
9600072
uniprot
proteins
sequence_length
636
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 517..537; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins