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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Candidate cardiovascular disease genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q32.1
Chromosome location (bp)
128241278 - 128257629
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways 1,2,3. In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) 4,5,6,7,8. In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption 9. Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) 10. May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression 11. Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) 12. In innate immunity, modulates the activity and function of neutrophils by increasing chemotaxis and the secretion of oxygen radicals. Increases phagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells 13. Plays a pro-inflammatory role, in synergy with IL1B, by inducing NOS2 wich promotes the production of IL6, IL8 and Prostaglandin E2, through a signaling pathway that involves JAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 14,15. In adaptive immunity, promotes the switch of memory T-cells towards T helper-1 cell immune responses (By similarity). Increases CD4(+)CD25(-) T-cell proliferation and reduces autophagy during TCR (T-cell receptor) stimulation, through MTOR signaling pathway activation and BCL2 up-regulation 16....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Candidate cardiovascular disease genes Disease related genes Human disease related genes Endocrine and metabolic diseases Other endocrine and metabolic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001525[angiogenesis] GO:0001542[ovulation from ovarian follicle] GO:0001666[response to hypoxia] GO:0001819[positive regulation of cytokine production] GO:0001890[placenta development] GO:0001932[regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0001936[regulation of endothelial cell proliferation] GO:0002021[response to dietary excess] GO:0003300[cardiac muscle hypertrophy] GO:0003677[DNA binding] GO:0005102[signaling receptor binding] GO:0005179[hormone activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006006[glucose metabolic process] GO:0006111[regulation of gluconeogenesis] GO:0006112[energy reserve metabolic process] GO:0006114[glycerol biosynthetic process] GO:0006629[lipid metabolic process] GO:0006635[fatty acid beta-oxidation] GO:0006909[phagocytosis] GO:0007165[signal transduction] GO:0007260[tyrosine phosphorylation of STAT protein] GO:0007565[female pregnancy] GO:0007584[response to nutrient] GO:0007623[circadian rhythm] GO:0008203[cholesterol metabolic process] GO:0008206[bile acid metabolic process] GO:0008217[regulation of blood pressure] GO:0008284[positive regulation of cell population proliferation] GO:0008340[determination of adult lifespan] GO:0008343[adult feeding behavior] GO:0009062[fatty acid catabolic process] GO:0009892[negative regulation of metabolic process] GO:0010507[negative regulation of autophagy] GO:0010888[negative regulation of lipid storage] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0014823[response to activity] GO:0019222[regulation of metabolic process] GO:0019953[sexual reproduction] GO:0021954[central nervous system neuron development] GO:0030073[insulin secretion] GO:0030217[T cell differentiation] GO:0030300[regulation of intestinal cholesterol absorption] GO:0031667[response to nutrient levels] GO:0032008[positive regulation of TOR signaling] GO:0032099[negative regulation of appetite] GO:0032310[prostaglandin secretion] GO:0032355[response to estradiol] GO:0032735[positive regulation of interleukin-12 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032757[positive regulation of interleukin-8 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032814[regulation of natural killer cell activation] GO:0032817[regulation of natural killer cell proliferation] GO:0032868[response to insulin] GO:0032869[cellular response to insulin stimulus] GO:0033197[response to vitamin E] GO:0033210[leptin-mediated signaling pathway] GO:0033686[positive regulation of luteinizing hormone secretion] GO:0035360[positive regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035556[intracellular signal transduction] GO:0035630[bone mineralization involved in bone maturation] GO:0035904[aorta development] GO:0038108[negative regulation of appetite by leptin-mediated signaling pathway] GO:0042102[positive regulation of T cell proliferation] GO:0042269[regulation of natural killer cell mediated cytotoxicity] GO:0042307[positive regulation of protein import into nucleus] GO:0042445[hormone metabolic process] GO:0042531[positive regulation of tyrosine phosphorylation of STAT protein] GO:0042593[glucose homeostasis] GO:0042755[eating behavior] GO:0043066[negative regulation of apoptotic process] GO:0043270[positive regulation of ion transport] GO:0043410[positive regulation of MAPK cascade] GO:0044320[cellular response to leptin stimulus] GO:0045471[response to ethanol] GO:0045598[regulation of fat cell differentiation] GO:0045765[regulation of angiogenesis] GO:0045906[negative regulation of vasoconstriction] GO:0046325[negative regulation of glucose import] GO:0046427[positive regulation of receptor signaling pathway via JAK-STAT] GO:0046628[positive regulation of insulin receptor signaling pathway] GO:0046850[regulation of bone remodeling] GO:0046881[positive regulation of follicle-stimulating hormone secretion] GO:0046890[regulation of lipid biosynthetic process] GO:0048639[positive regulation of developmental growth] GO:0050790[regulation of catalytic activity] GO:0050796[regulation of insulin secretion] GO:0050810[regulation of steroid biosynthetic process] GO:0050892[intestinal absorption] GO:0050901[leukocyte tethering or rolling] GO:0050999[regulation of nitric-oxide synthase activity] GO:0051428[peptide hormone receptor binding] GO:0051541[elastin metabolic process] GO:0051726[regulation of cell cycle] GO:0051897[positive regulation of protein kinase B signaling] GO:0060587[regulation of lipoprotein lipid oxidation] GO:0060612[adipose tissue development] GO:0061037[negative regulation of cartilage development] GO:0070093[negative regulation of glucagon secretion] GO:0071298[cellular response to L-ascorbic acid] GO:0071300[cellular response to retinoic acid] GO:0090335[regulation of brown fat cell differentiation] GO:0098868[bone growth] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900015[regulation of cytokine production involved in inflammatory response] GO:1900180[regulation of protein localization to nucleus] GO:1900745[positive regulation of p38MAPK cascade] GO:1904651[positive regulation of fat cell apoptotic process] GO:1990051[activation of protein kinase C activity] GO:1990460[leptin receptor binding] GO:2000379[positive regulation of reactive oxygen species metabolic process] GO:2000486[negative regulation of glutamine transport] GO:2000491[positive regulation of hepatic stellate cell activation]
The Human Protein Atlas project is funded
