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LEP leptin [ Homo sapiens (human) ]

Gene ID: 3952, updated on 11-Sep-2019

Summary

Official Symbol
LEPprovided by HGNC
Official Full Name
leptinprovided by HGNC
Primary source
HGNC:HGNC:6553
See related
Ensembl:ENSG00000174697 MIM:164160
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OB; OBS; LEPD
Summary
This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]
Expression
Restricted expression toward fat (RPKM 214.1) See more
Orthologs

Genomic context

See LEP in Genome Data Viewer
Location:
7q32.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (128241201..128257629)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127881241..127897682)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene microRNA 129-1 Neighboring gene uncharacterized LOC105375494 Neighboring gene LEP 5' regulatory region Neighboring gene aurora kinase A pseudogene Neighboring gene RNA binding motif protein 28 Neighboring gene RNA, U7 small nuclear 27 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Leptin deficiency or dysfunction
MedGen: C3554224 OMIM: 614962 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel loci for type 2 diabetes.
NHGRI GWA Catalog

Pathways from BioSystems

  • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
    AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
    Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
    Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Differentiation of white and brown adipocyte, organism-specific biosystem (from WikiPathways)
    Differentiation of white and brown adipocyte, organism-specific biosystemDevelopment of white versus brown adipocytes (figure from Handbook of Obesity). Transcription factors and nuclear regulators controlling the development of white versus brown adipocytes are shown in ...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network
  • Incretin synthesis, secretion, and inactivation, organism-specific biosystem (from REACTOME)
    Incretin synthesis, secretion, and inactivation, organism-specific biosystemIncretins are peptide hormones produced by the gut that enhance the ability of glucose to stimulate insulin secretion from beta cells in the pancreas. Two incretins have been identified: Glucagon-lik...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Leptin signaling pathway, organism-specific biosystem (from WikiPathways)
    Leptin signaling pathway, organism-specific biosystemLeptin is a peptide hormone mainly synthesised and secreted from adipocytes. It is also expressed in other tissues including placenta, stomach and skeletal muscle. Leptin mediates its effects by bind...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
    Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
  • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by PTP1B, organism-specific biosystem
    Signaling events mediated by PTP1B
  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
  • Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystem (from REACTOME)
    Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystemGhrelin is a peptide hormone of 28 amino acid residues which is acylated at the serine-3 of the mature peptide. Ghrelin is synthesized in several tissues: X/A-like cells of the gastric mucosa (the ma...
  • Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1), organism-specific biosystem (from REACTOME)
    Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1), organism-specific biosystemIn L cells of the intestine the transcription factors TCF-4 (TCF7L2) and Beta-catenin form a heterodimer and bind the G2 enhancer of the Proglucagon gene GCG,activating its transcription to yield Pro...
  • Transcription factor regulation in adipogenesis, organism-specific biosystem (from WikiPathways)
    Transcription factor regulation in adipogenesis, organism-specific biosystemThe transcription factors involved in adipogenesis are shown in the current pathway. Adipogensis is the biological proces of cell differentation in which preadipocytes are converted into adipocytes.
  • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ94114

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
activation of protein kinase C activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of protein kinase C activity IDA
Inferred from Direct Assay
more info
PubMed 
adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
adult feeding behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
aorta development IEA
Inferred from Electronic Annotation
more info
 
bile acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
bone growth ISS
Inferred from Sequence or Structural Similarity
more info
 
bone mineralization involved in bone maturation IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
cellular response to L-ascorbic acid IEA
Inferred from Electronic Annotation
more info
 
cellular response to leptin stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
central nervous system neuron development IEA
Inferred from Electronic Annotation
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
elastin metabolic process IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
glycerol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
insulin secretion IEA
Inferred from Electronic Annotation
more info
 
interleukin-12 production IEA
Inferred from Electronic Annotation
more info
 
interleukin-6 secretion IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-8 secretion IDA
Inferred from Direct Assay
more info
PubMed 
intestinal absorption IDA
Inferred from Direct Assay
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
leptin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
leukocyte tethering or rolling IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of appetite ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of appetite by leptin-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of appetite by leptin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of autophagy IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cartilage development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of glucagon secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of glucose import IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of glutamine transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of lipid storage IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
ovulation from ovarian follicle IEA
Inferred from Electronic Annotation
more info
 
phagocytosis IEA
Inferred from Electronic Annotation
more info
 
placenta development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JAK-STAT cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of TOR signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of developmental growth IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fat cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of follicle-stimulating hormone secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of hepatic stellate cell activation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ion transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of luteinizing hormone secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of p38MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of p38MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peroxisome proliferator activated receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol 3-kinase signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of tyrosine phosphorylation of STAT protein IEA
Inferred from Electronic Annotation
more info
 
prostaglandin secretion IDA
Inferred from Direct Assay
more info
PubMed 
regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of bone remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of brown fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cytokine production involved in inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of intestinal cholesterol absorption IEA
Inferred from Electronic Annotation
more info
 
regulation of lipoprotein lipid oxidation IEA
Inferred from Electronic Annotation
more info
 
regulation of natural killer cell activation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of natural killer cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of natural killer cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of nitric-oxide synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to dietary excess IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to insulin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
sexual reproduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
tyrosine phosphorylation of STAT protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
leptin
Names
leptin (murine obesity homolog)
leptin (obesity homolog, mouse)
obese protein
obese, mouse, homolog of
obesity factor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007450.1 RefSeqGene

    Range
    5001..21352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000230.3NP_000221.1  leptin precursor

    See identical proteins and their annotated locations for NP_000221.1

    Status: REVIEWED

    Source sequence(s)
    AC018635, BU752306, DA762132, U43653
    Consensus CDS
    CCDS5800.1
    UniProtKB/Swiss-Prot
    P41159
    UniProtKB/TrEMBL
    A4D0Y8
    Related
    ENSP00000312652.4, ENST00000308868.5
    Conserved Domains (1) summary
    pfam02024
    Location:26167
    Leptin; Leptin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    128241201..128257629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250340.5XP_005250397.1  leptin isoform X1

    See identical proteins and their annotated locations for XP_005250397.1

    UniProtKB/Swiss-Prot
    P41159
    Conserved Domains (1) summary
    pfam02024
    Location:26166
    Leptin; Leptin
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