OSMR
entrez
9180
canonical
uniprot
Q99650
canonical
ensembl
ENSG00000145623
resolver
ensp
ENSP00000274276
resolver
ensp
ENSP00000422023
resolver
ensp
ENSP00000550372
resolver
ensp
ENSP00000550373
resolver
ensp
ENSP00000550374
resolver
ensp
ENSP00000688342
resolver
ensp
ENSP00000688343
resolver
ensp
ENSP00000688344
resolver
ensp
ENSP00000688347
resolver
genesymbol
OSMR
resolver
genesymbol_syn
OSMRB
resolver
hgnc
HGNC:8507
resolver
uniprot
Q6P4E8
resolver
uniprot
Q96QJ6
resolver
uniprot_entry
OSMR_HUMAN
resolver
uniprot_sec
Q6P4E8
resolver
uniprot_sec
Q96QJ6
resolver
amino_acid_sequence
MALFAVFQTTFFLTLLSLRTYQSEVLAERLPLTPVSLKVSTNSTRQSLHLQWTVHNLPYHQELKMVFQIQISRIETSNVIWVGNYSTTVKWNQVLHWSWESELPLECATHFVRIKSLVDDAKFPEPNFWSNWSSWEEVSVQDSTGQDILFVFPKDKLVEEGTNVTICYVSRNIQNNVSCYLEGKQIHGEQLDPHVTAFNLNSVPFIRNKGTNIYCEASQGNVSEGMKGIVLFVSKVLEEPKDFSCETEDFKTLHCTWDPGTDTALGWSKQPSQSYTLFESFSGEKKLCTHKNWCNWQITQDSQETYNFTLIAENYLRKRSVNILFNLTHRVYLMNPFSVNFENVNATNAIMTWKVHSIRNNFTYLCQIELHGEGKMMQYNVSIKVNGEYFLSELEPATEYMARVRCADASHFWKWSEWSGQNFTTLEAAPSEAPDVWRIVSLEPGNHTVTLFWKPLSKLHANGKILFYNVVVENLDKPSSSELHSIPAPANSTKLILDRCSYQICVIANNSVGASPASVIVISADPENKEVEEERIAGTEGGFSLSWKPQPGDVIGYVVDWCDHTQDVLGDFQWKNVGPNTTSTVISTDAFRPGVRYDFRIYGLSTKRIACLLEKKTGYSQELAPSDNPHVLVDTLTSHSFTLSWKDYSTESQPGFIQGYHVYLKSKARQCHPRFEKAVLSDGSECCKYKIDNPEEKALIVDNLKPESFYEFFITPFTSAGEGPSATFTKVTTPDEHSSMLIHILLPMVFCVLLIMVMCYLKSQWIKETCYPDIPDPYKSSILSLIKFKENPHLIIMNVSDCIPDAIEVVSKPEGTKIQFLGTRKSLTETELTKPNYLYLLPTEKNHSGPGPCICFENLTYNQAASDSGSCGHVPVSPKAPSMLGLMTSPENVLKALEKNYMNSLGEIPAGETSLNYVSQLASPMFGDKDSLPTNPVEAPHCSEYKMQMAVSLRLALPPPTENSSLSSITLLDPGEHYC
uniprot
proteins
disease_involvement
DISEASE: Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. {ECO:0000269|PubMed:18179886, ECO:0000269|PubMed:19690585}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as a shared membrane-bound signal-transducing subunit in two distinct receptor complexes, the type II OSM receptor (heterodimer composed of OSMR and IL6ST) and the IL31 receptor complex (heterodimer composed of OSMR and IL31RA) which respectively bind OSM and IL31 (PubMed:15184896, PubMed:15627637, PubMed:8999038). Functionally, OSM signaling via OSMR/IL6ST regulates many processes including cell proliferation, cell differentiation, cytokine production, whereas the IL31 signaling via OSMR/IL31RA is particularly important in skin immunity (PubMed:15184896, PubMed:8999038). Mechanistically, in both the OSM-IL6ST/gp130-OSMR and IL31-IL31RA-OSMR complexes, receptor dimerization activates JAK1 and JAK2 (and to a lesser extent TYK2) associated with the intracellular domains of IL6ST/gp130 and OSMR (or IL31RA and OSMR) (PubMed:15627637, PubMed:8999038, PubMed:9188471). These kinases phosphorylate tyrosine residues on IL6ST/gp130 and OSMR (or IL31RA and OSMR), creating docking sites for STAT1, STAT3, and STAT5B, which are then phosphorylated and activated (PubMed:15627637, PubMed:9188471). In addition, the IL31 receptor complex activates the MAPK pathway (MAPK3/ERK1-MAPK1/ERK2) via recruitment of the adapter protein SHC1 (PubMed:15627637). {ECO:0000269|PubMed:15184896, ECO:0000269|PubMed:15627637, ECO:0000269|PubMed:8999038, ECO:0000269|PubMed:9188471}.
uniprot
proteins
mass_dalton
110509
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
11016927
uniprot
proteins
pubmed
15184896
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15627637
uniprot
proteins
pubmed
18179886
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690585
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21261663
uniprot
proteins
pubmed
8999038
uniprot
proteins
pubmed
9188471
uniprot
proteins
sequence_length
979
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 741..761; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins