InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LIFR

Summary

InnateDB Protein

IDBP-17491.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LIFR

Protein Name

leukemia inhibitory factor receptor alpha

Synonyms

CD118; LIF-R; SJS2; STWS; SWS;

Species

Homo sapiens

Ensembl Protein

ENSP00000263409

InnateDB Gene

IDBG-17489 (LIFR)

Protein Structure

UniProt Annotation

Function

Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells.

Subcellular Localization

Isoform 1: Cell membrane; Single-pass type I membrane protein.Isoform 2: Secreted.

Disease Associations

Stueve-Wiedemann syndrome (STWS) [MIM:601559]: Severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. {ECO:0000269PubMed:14740318}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004897	ciliary neurotrophic factor receptor activity
GO:0004923	leukemia inhibitory factor receptor activity
GO:0004924	oncostatin-M receptor activity
GO:0005127	ciliary neurotrophic factor receptor binding
GO:0005515	protein binding
GO:0019838	growth factor binding

Biological Process

GO:0007166	cell surface receptor signaling pathway
GO:0008284	positive regulation of cell proliferation
GO:0019221	cytokine-mediated signaling pathway
GO:0034097	response to cytokine
GO:0038165	oncostatin-M-mediated signaling pathway
GO:0048861	leukemia inhibitory factor signaling pathway
GO:0070120	ciliary neurotrophic factor-mediated signaling pathway