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FLASH GENE
Symbol LIFR contributors: mct - updated : 19/12/2008
HGNC name leukemia inhibitory factor receptor
HGNC id 6597
Corresponding disease
SWS Stuve-Wiedemann syndrome
Location 5p13.1      Physical location : 38.475.064 - 38.595.507
Synonym name CD118 antigen
Synonym symbol(s) CD118, SJS2, FLJ98106, FLJ99923, LIF-R, STWS, SWS
DNA
TYPE functioning gene
STRUCTURE 120.43 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - OSMR - LIFRAS - LiFR - cen
Authors Hammarsund (2004)
Physical map
FLJ34658 5p13.2 hypothetical protein FLJ34658 LOC167127 5p13.2 hypothetical protein LOC167127 DKFZp434H2226 5p13.2 hypothetical protein DKFZp434H2226 SKP2 5p13 S-phase kinase-associated protein 2 (p45) FLJ30596 5p13.2 hypothetical protein FLJ30596 FLJ25422 5p13.2 hypothetical protein FLJ25422 SLC1A3 5p13 solute carrier family 1 (glial high affinity glutamate transporter), member 3 LOC345513 5p13.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) IDN3 5p13.2 IDN3 protein LOC391777 5 similar to ribosomal protein S4, X-linked FLJ13231 5p13.2 hypothetical protein FLJ13231 LOC389283 5 LOC389283 OFD1P1 5p13 oral-facial-digital syndrome 1, pseudogene 1 NUP155 5p13 nucleoporin 155kDa FLJ10233 5p13.2 hypothetical protein FLJ10233 GDNF 5p13-p12 glial cell derived neurotrophic factor FLJ39155 5p13.2 hypothetical protein FLJ39155 LIFR 5p13-p12 leukemia inhibitory factor receptor LOC253254 5p13.2 hypothetical LOC253254 OSMR 5p13.2 oncostatin M receptor KIAA1999 MGC39830 5p13.2 hypothetical protein MGC39830 FYB 5p13.1 FYN binding protein (FYB-120/130) C9 5p13 complement component 9 DAB2 5p13-p12.1 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) LOC285634 5p13.2 similar to DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26; RNA helicase HDB; deleted in cancer 1; RNA helicase HDB/DICE1; DEAD box protein LOC389285 5 LOC389285 PTGER4 5p13.1 prostaglandin E receptor 4 (subtype EP4) OSRF 5p15.2-p12 osmosis responsive factor PRKAA1 5p14-p11 protein kinase, AMP-activated, alpha 1 catalytic subunit LOC389286 5 similar to FKSG62 RPL37 5p13-p12 ribosomal protein L37 CARD6 5p12 caspase recruitment domain family, member 6 C7 5p13 complement component 7 FLJ40243 5p13.1 hypothetical protein FLJ40243
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 10258 - 1097 - Skiniotis (2008)
20 - 10107 - 1097 - Skiniotis (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   moderately
Reproductivefemale systemplacenta  highly
 male systemprostate  moderately
Respiratoryrespiratory tractlarynx  highly
Skeleton     
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivecartilage   
Muscularstriatumskeletal highly
cells
SystemCellPubmedSpeciesStageRna symbol
 chondrocyte
Skeletonosteoblast
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a cytokine binding domain (CBD) with two fibronectin III domains linked by a proline-rich sequence: N-terminal fibronectin III domain of the CBD characterized by two conserved disulfide bridges, C-terminal fibronectin III domain of the CBD with a conserved WSXWS motif
  • a ligand binding domain
  • cytokine-receptor-like modules
  • one immunoglobulin-like C2 type domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Lifr
    Homologene
    FAMILY class I hematopoietin receptor family
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text type 1 transmembrane protein
    basic FUNCTION
  • mediating a survival effect within oligodendrocyte and modulating severity of multiple sclerosis
  • involved in the control of osteoclast survival and size
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer LIFR/GP130 component of the endogenous defense against inflammatory CNS injury
  • quaternary cytokine receptor complex consisting of IL6ST, LIFR, the cytokine Ciliary Neurotrophic Factor (CNTF), and its alpha receptor (CNTFRA)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by SOCS3 (LIFR signaling is under tight negative regulation by the intracellular protein suppressor of cytokine signaling 3 (SOCS3))
    ASSOCIATED DISORDERS
    corresponding disease(s) SWS
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate therapeutic strategy for demyelinating disease
    Marker
    Therapy target
    ANIMAL & CELL MODELS