Endometriosis Knowledgebase

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Gene id

3953

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

LEPR Gene UCSC Ensembl

Aliases

CD295, LEP-R, LEPRD, OB-R, OBR

Gene name

leptin receptor

Alternate names

leptin receptor, OB receptor, huB219,

Gene location

1p31.3 (65420651: 65637492) Exons: 24 NC_000001.11

Gene summary(Entrez)

The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]

OMIM

601007

Protein Summary

Protein general information

P48357

Name: Leptin receptor (LEP R) (HuB219) (OB receptor) (OB R) (CD antigen CD295)

Length: 1165 Mass: 132,494

Tissue specificity: Isoform A is expressed in fetal liver and in hematopoietic tissues and choroid plexus. In adults highest expression in heart, liver, small intestine, prostate and ovary. Low level in lung and kidney. Isoform B is highly expressed in hy

Sequence

MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNSNGHYETAVEPKFNSS
GTHFSNLSKTTFHCCFRSEQDRNCSLCADNIEGKTFVSTVNSLVFQQIDANWNIQCWLKGDLKLFICYVESLFKN
LFRNYNYKVHLLYVLPEVLEDSPLVPQKGSFQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSP
LMSVQPINMVKPDPPLGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILP
GSSYEVQVRGKRLDGPGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKIVPSKEIVWWMNLAEK
IPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHHRYAELYVIDVNINISCETDGYLTKMTCRWS
TSTIQSLAESTLQLRYHRSSLYCSDIPSIHPISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSP
PTCVLPDSVVKPLPPSSVKAEITINIGLLKISWEKPVFPENNLQFQIRYGLSGKEVQWKMYEVYDAKSKSVSLPV
PDLCAVYAVQVRCKRLDGLGYWSNWSNPAYTVVMDIKVPMRGPEFWRIINGDTMKKEKNVTLLWKPLMKNDSLCS
VQRYVINHHTSCNGTWSEDVGNHTKFTFLWTEQAHTVTVLAINSIGASVANFNLTFSWPMSKVNIVQSLSAYPLN
SSCVIVSWILSPSDYKLMYFIIEWKNLNEDGEIKWLRISSSVKKYYIHDHFIPIEKYQFSLYPIFMEGVGKPKII
NSFTQDDIEKHQSDAGLYVIVPVIISSSILLLGTLLISHQRMKKLFWEDVPNPKNCSWAQGLNFQKPETFEHLFI
KHTASVTCGPLLLEPETISEDISVDTSWKNKDEMMPTTVVSLLSTTDLEKGSVCISDQFNSVNFSEAEGTEVTYE
DESQRQPFVKYATLISNSKPSETGEEQGLINSSVTKCFSSKNSPLKDSFSNSSWEIEAQAFFILSDQHPNIISPH
LTFSEGLDELLKLEGNFPEENNDKKSIYYLGVTSIKKRESGVLLTDKSRVSCPFPAPCLFTDIRVLQDSCSHFVE
NNINLGTSSKKTFASYMPQFQTCSTQTHKIMENKMCDLTV

Structural information

Protein Domains	Fibronectin (239-333) Ig-like (331-429) Fibronectin (539-634) Fibronectin (639-732)
Motifs	WSXWS motif(622-626) Box 1(871-879)
Interpro:	IPR003961 IPR003529 IPR003531 IPR007110 IPR013783 IPR010457 IPR015752
Prosite:	PS50853 PS01353
Pfam:	PF06328
CDD:	cd00063
PDB:	3V6O
PDBsum:	3V6O
DIP:	6117
MINT:	1387953
STRING:	ENSP00000330393;

Other Databases

GeneCards: LEPR; Malacards: LEPR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IMP	biological_process
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	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:0006112	energy reserve metabolic process	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008203	cholesterol metabolic pro cess	IEA	biological_process
GO:0010507	negative regulation of au tophagy	IDA	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	IEA	cellular_component
GO:0019953	sexual reproduction	ISS	biological_process
GO:0030217	T cell differentiation	ISS	biological_process
GO:0033210	leptin-mediated signaling pathway	ISS	biological_process
GO:0038021	leptin receptor activity	ISS	molecular_function
GO:0042593	glucose homeostasis	ISS	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043235	receptor complex	IDA	cellular_component
GO:0044321	response to leptin	ISS	biological_process
GO:0045721	negative regulation of gl uconeogenesis	IEA	biological_process
GO:0046850	regulation of bone remode ling	ISS	biological_process
GO:0051346	negative regulation of hy drolase activity	IEA	biological_process
GO:0060259	regulation of feeding beh avior	ISS	biological_process
GO:0097009	energy homeostasis	ISS	biological_process
GO:0098868	bone growth	ISS	biological_process
GO:2000505	regulation of energy home ostasis	ISS	biological_process
GO:0001525	angiogenesis	IMP	biological_process
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0004896	cytokine receptor activit y	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein 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:0006112	energy reserve metabolic process	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008203	cholesterol metabolic pro cess	IEA	biological_process
GO:0010507	negative regulation of au tophagy	IDA	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:0016323	basolateral plasma membra ne	IEA	cellular_component
GO:0019953	sexual reproduction	IEA	biological_process
GO:0019953	sexual reproduction	ISS	biological_process
GO:0030217	T cell differentiation	IEA	biological_process
GO:0030217	T cell differentiation	ISS	biological_process
GO:0033210	leptin-mediated signaling pathway	IEA	biological_process
GO:0033210	leptin-mediated signaling pathway	ISS	biological_process
GO:0038021	leptin receptor activity	IEA	molecular_function
GO:0038021	leptin receptor activity	IEA	molecular_function
GO:0038021	leptin receptor activity	ISS	molecular_function
GO:0042593	glucose homeostasis	IEA	biological_process
GO:0042593	glucose homeostasis	ISS	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043235	receptor complex	IDA	cellular_component
GO:0044321	response to leptin	IEA	biological_process
GO:0044321	response to leptin	ISS	biological_process
GO:0045721	negative regulation of gl uconeogenesis	IEA	biological_process
GO:0046850	regulation of bone remode ling	IEA	biological_process
GO:0046850	regulation of bone remode ling	ISS	biological_process
GO:0051346	negative regulation of hy drolase activity	IEA	biological_process
GO:0060259	regulation of feeding beh avior	IEA	biological_process
GO:0060259	regulation of feeding beh avior	ISS	biological_process
GO:0097009	energy homeostasis	IEA	biological_process
GO:0097009	energy homeostasis	ISS	biological_process
GO:0098868	bone growth	IEA	biological_process
GO:0098868	bone growth	ISS	biological_process
GO:2000505	regulation of energy home ostasis	IEA	biological_process
GO:2000505	regulation of energy home ostasis	ISS	biological_process
GO:0001525	angiogenesis	IMP	biological_process
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein 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:0006112	energy reserve metabolic process	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0010507	negative regulation of au tophagy	IDA	biological_process
GO:0019953	sexual reproduction	ISS	biological_process
GO:0030217	T cell differentiation	ISS	biological_process
GO:0033210	leptin-mediated signaling pathway	ISS	biological_process
GO:0038021	leptin receptor activity	ISS	molecular_function
GO:0042593	glucose homeostasis	ISS	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043235	receptor complex	IDA	cellular_component
GO:0044321	response to leptin	ISS	biological_process
GO:0046850	regulation of bone remode ling	ISS	biological_process
GO:0060259	regulation of feeding beh avior	ISS	biological_process
GO:0097009	energy homeostasis	ISS	biological_process
GO:0098868	bone growth	ISS	biological_process
GO:2000505	regulation of energy home ostasis	ISS	biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04932  Non-alcoholic fatty liver disease
hsa04152  AMPK signaling pathway
hsa04920  Adipocytokine signaling pathway

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Asthma	PMID: 19191138
Autism	PMID: 19058789
Azoospermia	PMID: 17212806
Cancer	PMID: 19692168
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Diabetes	PMID: 18939509
Endometriosis	PMID: 15465848
Female infertility	PMID: 22999554
Hypertension	PMID: 12050272
Implantation failure	PMID: 22265003
Male infertility	PMID: 17212806
Metabolic syndrome	PMID: 19344216
Obesity	PMID: 10805501
Oligozoospermia	PMID: 17212806
Polycystic ovary syndrome (PCOS)	PMID: 16452543
Endometriosis	INFBASE15465848
Preeclampsia	PMID: 15544427
Psychiatric disorders	PMID: 19086053
Sertoli cell-only syndrome (SCOS)	PMID: 17212806
Varicocele	PMID: 17212806

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
15465848	Endometrio sis			42 (30 patients with severe/mo derate endometr iosis, 12 ferti le controls)		LEP LEPR	Show abstract