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    LEP leptin [ Homo sapiens (human) ]

    Gene ID: 3952, updated on 28-Jun-2015
    Official Symbol
    LEPprovided by HGNC
    Official Full Name
    leptinprovided by HGNC
    Primary source
    HGNC:HGNC:6553
    See related
    Ensembl:ENSG00000174697; HPRD:01249; MIM:164160; Vega:OTTHUMG00000157564
    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, 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
    Location:
    7q31.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (128241202..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 uncharacterized LOC101928423 Neighboring gene microRNA 129-1 Neighboring gene uncharacterized LOC105375494 Neighboring gene uncharacterized protein MGC27345 Neighboring gene aurora kinase A pseudogene Neighboring gene RNA binding motif protein 28

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Obesity, severe, due to leptin deficiency
    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
    • AMPK signaling, organism-specific biosystem (from WikiPathways)
      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...
    • 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...
    • 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...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ94114

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptide hormone receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    adult feeding behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bile acid metabolic process IEA
    Inferred from Electronic Annotation
    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 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
     
    eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    energy reserve metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    leptin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte tethering or rolling IEA
    Inferred from Electronic Annotation
    more info
     
    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 cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of glucagon secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of glutamine transport IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter 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
     
    placenta development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of STAT protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of developmental growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 myeloid cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peroxisome proliferator activated receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of tyrosine phosphorylation of Stat3 protein IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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 steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    tyrosine phosphorylation of STAT protein IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    leptin
    Names
    leptin
    leptin (murine obesity homolog)
    leptin (obesity homolog, mouse)
    obese protein
    obese, mouse, homolog of
    obesity factor

    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_000230.2NP_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/TrEMBL
      A4D0Y8
      UniProtKB/Swiss-Prot
      P41159
      Related
      ENSP00000312652, OTTHUMP00000212285, ENST00000308868, OTTHUMT00000349174
      Conserved Domains (1) summary
      pfam02024
      Location:22167
      Leptin; Leptin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

      Range
      128241202..128257629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250340.3XP_005250397.1  

      See identical proteins and their annotated locations for XP_005250397.1

      UniProtKB/Swiss-Prot
      P41159
      Conserved Domains (1) summary
      pfam02024
      Location:22166
      Leptin; Leptin

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      127814632..127830980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)