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LEP leptin [ Homo sapiens (human) ]

Gene ID: 3952, updated on 21-Feb-2021

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
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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)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127881331..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
DNA binding IEA
Inferred from Electronic Annotation
more info
 
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-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 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)

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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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