InnateDB Protein
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IDBP-365512.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LIFR
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Protein Name
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leukemia inhibitory factor receptor alpha
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Synonyms
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CD118; LIF-R; SJS2; STWS; SWS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000398368
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InnateDB Gene
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IDBG-17489 (LIFR)
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Protein Structure
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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.
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Subcellular Localization |
Isoform 1: Cell membrane; Single-pass type I membrane protein.Isoform 2: Secreted.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
4 [view]
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Molecular Function |
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Biological Process |
GO:0007166
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cell surface receptor signaling pathway
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GO:0008284
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positive regulation of cell proliferation
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GO:0019221
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cytokine-mediated signaling pathway
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GO:0034097
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response to cytokine
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GO:0038165
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oncostatin-M-mediated signaling pathway
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GO:0048861
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leukemia inhibitory factor signaling pathway
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GO:0070120
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ciliary neurotrophic factor-mediated signaling pathway
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Cellular Component |
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PDB ID |
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InterPro |
IPR003961
Fibronectin, type III
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PFAM |
PF00041
PF01108
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PRINTS |
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PIRSF |
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SMART |
SM00060
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TIGRFAMs |
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Modification |
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SwissProt |
P42702
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PhosphoSite |
PhosphoSite-P42702
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TrEMBL |
D6RJ94
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UniProt Splice Variant |
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Entrez Gene |
3977
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UniGene |
Hs.616721
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RefSeq |
NP_001121143
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HUGO |
HGNC:6597
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OMIM |
151443
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CCDS |
CCDS3927
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HPRD |
01048
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IMGT |
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EMBL |
AC010425
AC010457
AC091823
U66563
X61615
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GenPept |
AAB61897
CAA43805
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