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    LEP leptin [ Homo sapiens (human) ]

    Gene ID: 3952, updated on 29-Nov-2020

    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
    109.20201120 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
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    GeneReviews: Not available
    Leptin deficiency or dysfunction
    MedGen: C3554224 OMIM: 614962 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    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 
    leptin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    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 insulin stimulus 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 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-8 production 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 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 protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    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 Updated Annotation Release 109.20201120

    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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