Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3977
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol LIFR   Gene   UCSC   Ensembl
Aliases CD118, LIF-R, SJS2, STWS, SWS
Gene name LIF receptor alpha
Alternate names leukemia inhibitory factor receptor, CD118 antigen, LIF receptor, leukemia inhibitory factor receptor alpha,
Gene location 5p13.1 (38606289: 38474962)     Exons: 25     NC_000005.10
Gene summary(Entrez) This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 151443

Protein Summary

Protein general information P42702  

Name: Leukemia inhibitory factor receptor (LIF receptor) (LIF R) (CD antigen CD118)

Length: 1097  Mass: 123,743

Sequence MMDIYVCLKRPSWMVDNKRMRTASNFQWLLSTFILLYLMNQVNSQKKGAPHDLKCVTNNLQVWNCSWKAPSGTGR
GTDYEVCIENRSRSCYQLEKTSIKIPALSHGDYEITINSLHDFGSSTSKFTLNEQNVSLIPDTPEILNLSADFST
STLYLKWNDRGSVFPHRSNVIWEIKVLRKESMELVKLVTHNTTLNGKDTLHHWSWASDMPLECAIHFVEIRCYID
NLHFSGLEEWSDWSPVKNISWIPDSQTKVFPQDKVILVGSDITFCCVSQEKVLSALIGHTNCPLIHLDGENVAIK
IRNISVSASSGTNVVFTTEDNIFGTVIFAGYPPDTPQQLNCETHDLKEIICSWNPGRVTALVGPRATSYTLVESF
SGKYVRLKRAEAPTNESYQLLFQMLPNQEIYNFTLNAHNPLGRSQSTILVNITEKVYPHTPTSFKVKDINSTAVK
LSWHLPGNFAKINFLCEIEIKKSNSVQEQRNVTIKGVENSSYLVALDKLNPYTLYTFRIRCSTETFWKWSKWSNK
KQHLTTEASPSKGPDTWREWSSDGKNLIIYWKPLPINEANGKILSYNVSCSSDEETQSLSEIPDPQHKAEIRLDK
NDYIISVVAKNSVGSSPPSKIASMEIPNDDLKIEQVVGMGKGILLTWHYDPNMTCDYVIKWCNSSRSEPCLMDWR
KVPSNSTETVIESDEFRPGIRYNFFLYGCRNQGYQLLRSMIGYIEELAPIVAPNFTVEDTSADSILVKWEDIPVE
ELRGFLRGYLFYFGKGERDTSKMRVLESGRSDIKVKNITDISQKTLRIADLQGKTSYHLVLRAYTDGGVGPEKSM
YVVTKENSVGLIIAILIPVAVAVIVGVVTSILCYRKREWIKETFYPDIPNPENCKALQFQKSVCEGSSALKTLEM
NPCTPNNVEVLETRSAFPKIEDTEIISPVAERPEDRSDAEPENHVVVSYCPPIIEEEIPNPAADEAGGTAQVIYI
DVQSMYQPQAKPEEEQENDPVGGAGYKPQMHLPINSTVEDIAAEEDLDKTAGYRPQANVNTWNLVSPDSPRSIDS
NSEIVSFGSPCSINSRQFLIPPKDEDSPKSNGGGWSFTNFFQNKPND
Structural information
Protein Domains
Fibronectin (49-138)
Fibronectin (335-434)
Fibronectin (435-534)
F (538-629)

Motifs
WSXWS motif(519-523)
Box 1(869-877)
Interpro:  IPR003961 IPR003529 IPR013783
Prosite:   PS50853 PS01353

Pfam:  
PF00041
CDD:   cd00063

PDB:  
3E0G
PDBsum:   3E0G

DIP:  
5770
MINT:   1352123
STRING:   ENSP00000263409;
Other Databases GeneCards:  LIFR;  Malacards:  LIFR

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0010656 negative regulation of mu
scle cell apoptotic proce
ss
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019955 cytokine binding
IEA molecular_function
GO:0031100 animal organ regeneration
IEA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0038165 oncostatin-M-mediated sig
naling pathway
IMP biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048812 neuron projection morphog
enesis
IEA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0004897 ciliary neurotrophic fact
or receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004924 oncostatin-M receptor act
ivity
IDA molecular_function
GO:0004896 cytokine receptor activit
y
IEA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IEA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
TAS molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0010656 negative regulation of mu
scle cell apoptotic proce
ss
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019955 cytokine binding
IEA molecular_function
GO:0031100 animal organ regeneration
IEA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0038165 oncostatin-M-mediated sig
naling pathway
IMP biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048812 neuron projection morphog
enesis
IEA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0004897 ciliary neurotrophic fact
or receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004924 oncostatin-M receptor act
ivity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
TAS molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0034097 response to cytokine
IDA biological_process
GO:0038165 oncostatin-M-mediated sig
naling pathway
IMP biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0004897 ciliary neurotrophic fact
or receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004924 oncostatin-M receptor act
ivity
IDA molecular_function

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases References
Endometriosis PMID: 25631342
Female infertility INFBASE25631342
Endometriosis INFBASE25631342
Stuve-Wiedemann syndrome KEGG: H00462, OMIM: 151443

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25631342 Endometrio
sis

89 (65 women in
vestigated for
secondary infer
tility, 23 cont
rols)
Female infertility IL-1A
IL-6
LIF
LIFR and gp130
Show abstract