InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LEPR

Summary

InnateDB Protein

IDBP-99481.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LEPR

Protein Name

leptin receptor

Synonyms

CD295; LEP-R; LEPRD; OB-R; OBR;

Species

Homo sapiens

Ensembl Protein

ENSP00000330393

InnateDB Gene

IDBG-99469 (LEPR)

Protein Structure

UniProt Annotation

Function

Receptor for obesity factor (leptin). On ligand binding, mediates signaling through JAK2/STAT3. Involved in the regulation of fat metabolism and, in a hematopoietic pathway, required for normal lymphopoiesis. May play a role in reproduction. Can also mediate the ERK/FOS signaling pathway (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein.Isoform E: Secreted {ECO:0000305}.

Disease Associations

Leptin receptor deficiency (LEPRD) [MIM:614963]: A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism. {ECO:0000269PubMed:9537324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 hypothalamus.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	20 [view]
Protein-Protein	19 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0004896	cytokine receptor activity
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0006112	energy reserve metabolic process
GO:0007166	cell surface receptor signaling pathway
GO:0007275	multicellular organismal development
GO:0008203	cholesterol metabolic process
GO:0019221	cytokine-mediated signaling pathway
GO:0045721	negative regulation of gluconeogenesis
GO:0051346	negative regulation of hydrolase activity