Homo sapiens Gene: LEPR
Summary
InnateDB Gene IDBG-99469.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LEPR
Gene Name leptin receptor
Synonyms CD295; LEP-R; LEPRD; OB-R; OBR
Species Homo sapiens
Ensembl Gene ENSG00000116678
Encoded Proteins
leptin receptor
leptin receptor
leptin receptor
leptin receptor
leptin receptor
leptin receptor
leptin receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:65420652-65641559
Strand Forward strand
Band p31.3
Transcripts
ENST00000371060 ENSP00000360099
ENST00000371059 ENSP00000360098
ENST00000371058 ENSP00000360097
ENST00000349533 ENSP00000330393
ENST00000344610 ENSP00000340884
ENST00000406510 ENSP00000384025
ENST00000462765
ENST00000471762
ENST00000616738 ENSP00000483390
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
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Leptin pathway
REACTOME
KEGG
Neuroactive ligand-receptor interaction pathway
Cytokine-cytokine receptor interaction pathway
Jak-STAT signaling pathway pathway
Adipocytokine signaling pathway pathway
INOH
JAK STAT pathway and regulation pathway
PID NCI
Signaling events mediated by PTP1B
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.258228 Hs.597358 Hs.723178
RefSeq NM_001003679 NM_001003680 NM_001198687 NM_001198688 NM_001198689 NM_002303
HUGO
OMIM
CCDS CCDS30740 CCDS30741 CCDS55604 CCDS631
HPRD 03001
IMGT
EMBL
GenPept
RNA Seq Atlas