Endometriosis Knowledgebase

Search Result

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 accession	Term name	Evidence code	Go 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