LIFR
entrez
3977
canonical
uniprot
P42702
canonical
ensembl
ENSG00000113594
resolver
ensp
ENSP00000263409
resolver
ensp
ENSP00000398368
resolver
ensp
ENSP00000542189
resolver
ensp
ENSP00000542190
resolver
ensp
ENSP00000622552
resolver
enst
ENST00000263409
resolver
enst
ENST00000453190
resolver
enst
ENST00000872131
resolver
enst
ENST00000952493
resolver
genesymbol
LIFR
resolver
hgnc
HGNC:6597
resolver
uniprot
A8K1Z4
resolver
uniprot
Q6LCD9
resolver
uniprot_entry
A8K1Z4_HUMAN
resolver
uniprot_entry
LIFR_HUMAN
resolver
uniprot_sec
Q6LCD9
resolver
amino_acid_sequence
MMDIYVCLKRPSWMVDNKRMRTASNFQWLLSTFILLYLMNQVNSQKKGAPHDLKCVTNNLQVWNCSWKAPSGTGRGTDYEVCIENRSRSCYQLEKTSIKIPALSHGDYEITINSLHDFGSSTSKFTLNEQNVSLIPDTPEILNLSADFSTSTLYLKWNDRGSVFPHRSNVIWEIKVLRKESMELVKLVTHNTTLNGKDTLHHWSWASDMPLECAIHFVEIRCYIDNLHFSGLEEWSDWSPVKNISWIPDSQTKVFPQDKVILVGSDITFCCVSQEKVLSALIGHTNCPLIHLDGENVAIKIRNISVSASSGTNVVFTTEDNIFGTVIFAGYPPDTPQQLNCETHDLKEIICSWNPGRVTALVGPRATSYTLVESFSGKYVRLKRAEAPTNESYQLLFQMLPNQEIYNFTLNAHNPLGRSQSTILVNITEKVYPHTPTSFKVKDINSTAVKLSWHLPGNFAKINFLCEIEIKKSNSVQEQRNVTIKGVENSSYLVALDKLNPYTLYTFRIRCSTETFWKWSKWSNKKQHLTTEASPSKGPDTWREWSSDGKNLIIYWKPLPINEANGKILSYNVSCSSDEETQSLSEIPDPQHKAEIRLDKNDYIISVVAKNSVGSSPPSKIASMEIPNDDLKIEQVVGMGKGILLTWHYDPNMTCDYVIKWCNSSRSEPCLMDWRKVPSNSTETVIESDEFRPGIRYNFFLYGCRNQGYQLLRSMIGYIEELAPIVAPNFTVEDTSADSILVKWEDIPVEELRGFLRGYLFYFGKGERDTSKMRVLESGRSDIKVKNITDISQKTLRIADLQGKTSYHLVLRAYTDGGVGPEKSMYVVTKENSVGLIIAILIPVAVAVIVGVVTSILCYRKREWIKETFYPDIPNPENCKALQFQKSVCEGSSALKTLEMNPCTPNNVEVLETRSAFPKIEDTEIISPVAERPEDRSDAEPENHVVVSYCPPIIEEEIPNPAADEAGGTAQVIYIDVQSMYQPQAKPEEEQENDPVGGAGYKPQMHLPINSTVEDIAAEEDLDKTAGYRPQANVNTWNLVSPDSPRSIDSNSEIVSFGSPCSINSRQFLIPPKDEDSPKSNGGGWSFTNFFQNKPND
uniprot
proteins
disease_involvement
DISEASE: Stuve-Wiedemann syndrome 1 (STWS1) [MIM:601559]: A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy. {ECO:0000269|PubMed:14740318}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.
uniprot
proteins
function
FUNCTION: [Isoform 1]: Functions as a membrane-bound signal-transducing subunit either in complex with IL6ST/gp130 or as part of the ciliary neurotrophic factor receptor (CNTFR) complex composed by CNTFR, IL6ST/gp130 and LIFR (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:39532904, PubMed:9030543, PubMed:9188471). Signal transmission is initiated either by binding directly to cytokines, such as OSM or LIF or CTF1, or through the binding of other cytokines, like CNTF, CLCF1 or the heterodimeric complex CRLF1-CLCF1 to the non-signaling receptor CNTFR; ligand binding induces heterodimerization of IL6ST/gp130 and LIFR which activates JAK tyrosine kinases bound to their intracellular domains (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:1915266, PubMed:9030543, PubMed:9188471). These kinases subsequently phosphorylate the homodimer or heterodimer form of IL6ST/gp130 (PubMed:11285233, PubMed:11294841, PubMed:9030543). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STATs) (PubMed:11285233, PubMed:11294841, PubMed:9030543, PubMed:9188471). Engages sites 3 of ligands cytokines (PubMed:36930708). {ECO:0000269|PubMed:11285233, ECO:0000269|PubMed:11294841, ECO:0000269|PubMed:1542794, ECO:0000269|PubMed:1915266, ECO:0000269|PubMed:36930708, ECO:0000269|PubMed:39532904, ECO:0000269|PubMed:9030543, ECO:0000269|PubMed:9188471}.; FUNCTION: [Isoform 2]: Could inhibit the biological activity of LIF by blocking its binding to receptors on target cells. {ECO:0000250|UniProtKB:P42703}.
uniprot
proteins
mass_dalton
123743
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
11285233
uniprot
proteins
pubmed
11294841
uniprot
proteins
pubmed
14740318
uniprot
proteins
pubmed
1542794
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18775332
uniprot
proteins
pubmed
1915266
uniprot
proteins
pubmed
36930708
uniprot
proteins
pubmed
39532904
uniprot
proteins
pubmed
9030543
uniprot
proteins
pubmed
9188471
uniprot
proteins
pubmed
9525740
uniprot
proteins
sequence_length
1097
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000305|PubMed:1915266}; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000250|UniProtKB:P42703}.
uniprot
proteins
transmembrane_region
TRANSMEM 834..858; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins