Gene/Proteome Database (LMPD)

LMPD ID
LMP012343
Gene ID
3952
Species
Homo sapiens (Human)
Gene Name
leptin
Gene Symbol
LEP
Synonyms
OB; OBS; LEPD;
Chromosome
7
Map Location
7q31.3
Summary
This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for LEP

Proteins

leptin precursor
Refseq ID NP_000221
Protein GI 4557715
UniProt ID P41159
mRNA ID NM_000230
Length 167
MHWGTLCGFLWLWPYLFYVQAVPIQKVQDDTKTLIKTIVTRINDISHTQSVSSKQKVTGLDFIPGLHPILTLSKMDQTLAVYQQILTSMPSRNVIQISNDLENLRDLLHVLAFSKSCHLPWASGLETLDSLGGVLEASGYSTEVVALSRLQGSLQDMLWQLDLSPGC
sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2632 peptide sequence: MHWGTLCGFLWLWPYLFYVQA mat_peptide: 22..167 product: leptin calculated_mol_wt: 16027 peptide sequence: VPIQKVQDDTKTLIKTIVTRINDISHTQSVSSKQKVTGLDFIPGLHPILTLSKMDQTLAVYQQILTSMPSRNVIQISNDLENLRDLLHVLAFSKSCHLPWASGLETLDSLGGVLEASGYSTEVVALSRLQGSLQDMLWQLDLSPGC

Gene Information

Entrez Gene ID
3952
Gene Name
leptin
Gene Symbol
LEP
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IEA:Ensembl C cytoplasm
GO:0005576 TAS:Reactome C extracellular region
GO:0005615 ISS:HGNC C extracellular space
GO:0060612 IEA:Ensembl P adipose tissue development
GO:0008343 ISS:HGNC P adult feeding behavior
GO:0008206 IEA:Ensembl P bile acid metabolic process
GO:0035630 IEA:Ensembl P bone mineralization involved in bone maturation
GO:0071298 IEA:Ensembl P cellular response to L-ascorbic acid
GO:0071300 IEA:Ensembl P cellular response to retinoic acid
GO:0021954 IEA:Ensembl P central nervous system neuron development
GO:0008203 IEA:Ensembl P cholesterol metabolic process
GO:0007623 IEA:Ensembl P circadian rhythm
GO:0042755 IEA:Ensembl P eating behavior
GO:0006112 TAS:ProtInc P energy reserve metabolic process
GO:0006635 IEA:Ensembl P fatty acid beta-oxidation
GO:0007565 IEA:Ensembl P female pregnancy
GO:0042593 IEA:Ensembl P glucose homeostasis
GO:0006006 IEA:Ensembl P glucose metabolic process
GO:0006114 IEA:Ensembl P glycerol biosynthetic process
GO:0042445 IEA:Ensembl P hormone metabolic process
GO:0030073 IEA:Ensembl P insulin secretion
GO:0033210 IEA:Ensembl P leptin-mediated signaling pathway
GO:0050901 IEA:Ensembl P leukocyte tethering or rolling
GO:0043066 IEA:Ensembl P negative regulation of apoptotic process
GO:0032099 ISS:HGNC P negative regulation of appetite
GO:0061037 IEA:Ensembl P negative regulation of cartilage development
GO:0070093 IEA:Ensembl P negative regulation of glucagon secretion
GO:2000486 IEA:Ensembl P negative regulation of glutamine transport
GO:0000122 IEA:Ensembl P negative regulation of transcription from RNA polymerase II promoter
GO:0045906 IEA:Ensembl P negative regulation of vasoconstriction
GO:0001542 IEA:Ensembl P ovulation from ovarian follicle
GO:0001890 IDA:DFLAT P placenta development
GO:0043410 IEA:Ensembl P positive regulation of MAPK cascade
GO:2000366 IEA:Ensembl P positive regulation of STAT protein import into nucleus
GO:0008284 IEA:Ensembl P positive regulation of cell proliferation
GO:0001819 IEA:Ensembl P positive regulation of cytokine production
GO:0048639 IDA:DFLAT P positive regulation of developmental growth
GO:0046881 IEA:Ensembl P positive regulation of follicle-stimulating hormone secretion
GO:2000491 IEA:Ensembl P positive regulation of hepatic stellate cell activation
GO:0046628 IEA:Ensembl P positive regulation of insulin receptor signaling pathway
GO:0043270 IEA:Ensembl P positive regulation of ion transport
GO:0033686 IEA:Ensembl P positive regulation of luteinizing hormone secretion
GO:0045639 IEA:Ensembl P positive regulation of myeloid cell differentiation
GO:0042517 IEA:Ensembl P positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0008217 IEA:Ensembl P regulation of blood pressure
GO:0045598 IEA:Ensembl P regulation of fat cell differentiation
GO:0006111 IEA:Ensembl P regulation of gluconeogenesis
GO:0050796 IEA:Ensembl P regulation of insulin secretion
GO:0030300 IEA:Ensembl P regulation of intestinal cholesterol absorption
GO:0060587 IEA:Ensembl P regulation of lipoprotein lipid oxidation
GO:0050810 IEA:Ensembl P regulation of steroid biosynthetic process
GO:0002021 IEA:Ensembl P response to dietary excess
GO:0001666 IEA:Ensembl P response to hypoxia
GO:0032868 IEA:Ensembl P response to insulin
GO:0033197 IEA:Ensembl P response to vitamin E
GO:0007260 IEA:Ensembl P tyrosine phosphorylation of STAT protein

KEGG Pathway Links

KEGG Pathway ID Description
hsa04152 AMPK signaling pathway
ko04152 AMPK signaling pathway
hsa04920 Adipocytokine signaling pathway
ko04920 Adipocytokine signaling pathway
hsa04060 Cytokine-cytokine receptor interaction
ko04060 Cytokine-cytokine receptor interaction
hsa04630 Jak-STAT signaling pathway
ko04630 Jak-STAT signaling pathway
hsa04080 Neuroactive ligand-receptor interaction
ko04080 Neuroactive ligand-receptor interaction
hsa04932 Non-alcoholic fatty liver disease (NAFLD)
ko04932 Non-alcoholic fatty liver disease (NAFLD)

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_111045 Developmental Biology
REACT_23974 Incretin synthesis, secretion, and inactivation
REACT_17015 Metabolism of proteins
REACT_160078 Peptide hormone metabolism
REACT_111102 Signal Transduction
REACT_169118 Signaling by Leptin
REACT_19189 Synthesis, secretion, and deacylation of Ghrelin
REACT_24019 Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
REACT_27161 Transcriptional regulation of white adipocyte differentiation

Domain Information

InterPro Annotations

Accession Description
IPR012351 Four-helical cytokine, core
IPR009079 Four-helical cytokine-like, core
IPR000065 Leptin

UniProt Annotations

Entry Information

Gene Name
leptin
UniProt ID
P41159
Species
Human

Comments

Comment Type Description
Disease Leptin deficiency (LEPD) [MIM:614962]: A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age Note=The disease is caused by mutations affecting the gene represented in this entry.
Function May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass.
Similarity Belongs to the leptin family
Subcellular Location Secreted.
Subunit Interacts with SIGLEC6
Web Resource Name=R&D Systems' cytokine mini-reviews: Leptin; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1773";
Web Resource Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/lep/";
Web Resource Name=Wikipedia; Note=Leptin entry; URL="http://en.wikipedia.org/wiki/Leptin";

Identical and Related Proteins

Unique RefSeq proteins for LMP012343 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4557715 RefSeq NP_000221 167 leptin precursor

Identical Sequences to LMP012343 proteins

Reference Database Accession Length Protein Name

Related Sequences to LMP012343 proteins

Reference Database Accession Length Protein Name