LEP (leptin)

Gene

• Entrez ID: 3952
• Gene name: Leptin
• Gene symbol: LEP
• Synonyms: LEPD, OB, OBS
• Chromosome: 7
• Chromosome location: 7q32.1
• 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 pathwa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894023	C>T	Pathogenic	Missense variant, coding sequence variant
rs201523305	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs724159998	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1554394014	T>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1107446	hsa-miR-1207-3p	CLIP-seq
MIRT1107447	hsa-miR-149	CLIP-seq
MIRT1107448	hsa-miR-155	CLIP-seq
MIRT1107449	hsa-miR-1913	CLIP-seq
MIRT1107450	hsa-miR-1914	CLIP-seq
MIRT1107451	hsa-miR-197	CLIP-seq
MIRT1107452	hsa-miR-2113	CLIP-seq
MIRT1107453	hsa-miR-24	CLIP-seq
MIRT1107454	hsa-miR-298	CLIP-seq
MIRT1107455	hsa-miR-3125	CLIP-seq
MIRT1107456	hsa-miR-3183	CLIP-seq
MIRT1107457	hsa-miR-3187-3p	CLIP-seq
MIRT1107458	hsa-miR-3194-3p	CLIP-seq
MIRT1107459	hsa-miR-324-3p	CLIP-seq
MIRT1107460	hsa-miR-326	CLIP-seq
MIRT1107461	hsa-miR-330-5p	CLIP-seq
MIRT1107462	hsa-miR-3662	CLIP-seq
MIRT1107463	hsa-miR-3678-3p	CLIP-seq
MIRT1107464	hsa-miR-3916	CLIP-seq
MIRT1107465	hsa-miR-3921	CLIP-seq
MIRT1107466	hsa-miR-411	CLIP-seq
MIRT1107467	hsa-miR-4270	CLIP-seq
MIRT1107468	hsa-miR-4284	CLIP-seq
MIRT1107469	hsa-miR-4290	CLIP-seq
MIRT1107470	hsa-miR-4435	CLIP-seq
MIRT1107471	hsa-miR-4441	CLIP-seq
MIRT1107472	hsa-miR-4536	CLIP-seq
MIRT1107473	hsa-miR-4633-5p	CLIP-seq
MIRT1107474	hsa-miR-4653-5p	CLIP-seq
MIRT1107475	hsa-miR-4661-3p	CLIP-seq
MIRT1107476	hsa-miR-4687-3p	CLIP-seq
MIRT1107477	hsa-miR-4695-3p	CLIP-seq
MIRT1107478	hsa-miR-4701-5p	CLIP-seq
MIRT1107479	hsa-miR-4716-5p	CLIP-seq
MIRT1107480	hsa-miR-4723-3p	CLIP-seq
MIRT1107481	hsa-miR-4766-5p	CLIP-seq
MIRT1107482	hsa-miR-4781-3p	CLIP-seq
MIRT1107483	hsa-miR-483-5p	CLIP-seq
MIRT1107484	hsa-miR-498	CLIP-seq
MIRT1107485	hsa-miR-5096	CLIP-seq
MIRT1107486	hsa-miR-532-5p	CLIP-seq
MIRT1107487	hsa-miR-548s	CLIP-seq
MIRT1107488	hsa-miR-588	CLIP-seq
MIRT1107489	hsa-miR-599	CLIP-seq
MIRT1107490	hsa-miR-647	CLIP-seq
MIRT1107491	hsa-miR-659	CLIP-seq
MIRT1107492	hsa-miR-7	CLIP-seq
MIRT1107493	hsa-miR-877	CLIP-seq
MIRT1107494	hsa-miR-9	CLIP-seq
MIRT1107446	hsa-miR-1207-3p	CLIP-seq
MIRT2029684	hsa-miR-1972	CLIP-seq
MIRT1107452	hsa-miR-2113	CLIP-seq
MIRT2029685	hsa-miR-335	CLIP-seq
MIRT2029686	hsa-miR-4264	CLIP-seq
MIRT1107472	hsa-miR-4536	CLIP-seq
MIRT2029687	hsa-miR-4634	CLIP-seq
MIRT2029688	hsa-miR-4650-5p	CLIP-seq
MIRT1107476	hsa-miR-4687-3p	CLIP-seq
MIRT2029689	hsa-miR-4743	CLIP-seq
MIRT2029690	hsa-miR-549	CLIP-seq
MIRT1107489	hsa-miR-599	CLIP-seq
MIRT1107490	hsa-miR-647	CLIP-seq
MIRT1107451	hsa-miR-197	CLIP-seq
MIRT2029684	hsa-miR-1972	CLIP-seq
MIRT1107452	hsa-miR-2113	CLIP-seq
MIRT2260566	hsa-miR-2278	CLIP-seq
MIRT2260567	hsa-miR-23a	CLIP-seq
MIRT2260568	hsa-miR-23b	CLIP-seq
MIRT2260569	hsa-miR-23c	CLIP-seq
MIRT2260570	hsa-miR-3180-5p	CLIP-seq
MIRT2260571	hsa-miR-3189-3p	CLIP-seq
MIRT2260572	hsa-miR-331-3p	CLIP-seq
MIRT2029685	hsa-miR-335	CLIP-seq
MIRT1107466	hsa-miR-411	CLIP-seq
MIRT2029688	hsa-miR-4650-5p	CLIP-seq
MIRT1107479	hsa-miR-4716-5p	CLIP-seq
MIRT2029689	hsa-miR-4743	CLIP-seq
MIRT1107481	hsa-miR-4766-5p	CLIP-seq
MIRT1107482	hsa-miR-4781-3p	CLIP-seq
MIRT1107483	hsa-miR-483-5p	CLIP-seq
MIRT1107485	hsa-miR-5096	CLIP-seq
MIRT2260573	hsa-miR-520a-5p	CLIP-seq
MIRT2260574	hsa-miR-525-5p	CLIP-seq
MIRT2029690	hsa-miR-549	CLIP-seq
MIRT1107489	hsa-miR-599	CLIP-seq
MIRT2029685	hsa-miR-335	CLIP-seq
MIRT2029690	hsa-miR-549	CLIP-seq
MIRT2452924	hsa-miR-1254	CLIP-seq
MIRT2452925	hsa-miR-1276	CLIP-seq
MIRT2452926	hsa-miR-138	CLIP-seq
MIRT2452927	hsa-miR-3116	CLIP-seq
MIRT2452928	hsa-miR-320e	CLIP-seq
MIRT2452929	hsa-miR-3907	CLIP-seq
MIRT2452930	hsa-miR-4254	CLIP-seq
MIRT2452931	hsa-miR-4434	CLIP-seq
MIRT2452932	hsa-miR-4516	CLIP-seq
MIRT2452933	hsa-miR-4531	CLIP-seq
MIRT2452934	hsa-miR-548q	CLIP-seq
MIRT2560591	hsa-miR-1281	CLIP-seq
MIRT2560592	hsa-miR-1915	CLIP-seq
MIRT2560593	hsa-miR-4279	CLIP-seq
MIRT2560594	hsa-miR-4503	CLIP-seq
MIRT2560595	hsa-miR-4726-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Activation	21983012
HIF1A	Activation	18559540
HIF1A	Unknown	19080496
KHDRBS1	Activation	21672929
SP1	Activation	18559540
STAT3	Activation	18242580;19492417

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001525	Process	Angiogenesis	IDA	19910644, 21771332
GO:0001542	Process	Ovulation from ovarian follicle	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001890	Process	Placenta development	IDA	17957153
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	27037668
GO:0001936	Process	Regulation of endothelial cell proliferation	IDA	11460888
GO:0002021	Process	Response to dietary excess	IEA
GO:0003300	Process	Cardiac muscle hypertrophy	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005179	Function	Hormone activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	ISS
GO:0005829	Component	Cytosol	ISS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006111	Process	Regulation of gluconeogenesis	IEA
GO:0006112	Process	Energy reserve metabolic process	IBA	21873635
GO:0006114	Process	Glycerol biosynthetic process	IEA
GO:0006629	Process	Lipid metabolic process	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007260	Process	Tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0007565	Process	Female pregnancy	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008343	Process	Adult feeding behavior	ISS
GO:0010507	Process	Negative regulation of autophagy	IDA	25060689
GO:0010888	Process	Negative regulation of lipid storage	IEA
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IBA	21873635
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IDA	24340098
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	ISS
GO:0014823	Process	Response to activity	IEA
GO:0019953	Process	Sexual reproduction	IMP	8589726
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0030300	Process	Regulation of intestinal cholesterol absorption	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IBA	21873635
GO:0032008	Process	Positive regulation of TOR signaling	IDA	25060689
GO:0032099	Process	Negative regulation of appetite	ISS
GO:0032310	Process	Prostaglandin secretion	IDA	19688109
GO:0032355	Process	Response to estradiol	IEA
GO:0032635	Process	Interleukin-6 production	IDA	19688109
GO:0032637	Process	Interleukin-8 production	IDA	19688109
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032814	Process	Regulation of natural killer cell activation	IDA	12504075
GO:0032817	Process	Regulation of natural killer cell proliferation	IDA	12504075
GO:0032868	Process	Response to insulin	IBA	21873635
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033197	Process	Response to vitamin E	IEA
GO:0033210	Process	Leptin-mediated signaling pathway	ISS
GO:0033686	Process	Positive regulation of luteinizing hormone secretion	IEA
GO:0035360	Process	Positive regulation of peroxisome proliferator activated receptor signaling pathway	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035630	Process	Bone mineralization involved in bone maturation	IEA
GO:0035904	Process	Aorta development	IEA
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	IBA	21873635
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	ISS
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	25060689
GO:0042269	Process	Regulation of natural killer cell mediated cytotoxicity	IDA	12504075
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042755	Process	Eating behavior	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	24340098
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0044320	Process	Cellular response to leptin stimulus	IDA	17344214
GO:0045471	Process	Response to ethanol	IEA
GO:0045765	Process	Regulation of angiogenesis	IDA	11460888
GO:0045906	Process	Negative regulation of vasoconstriction	IEA
GO:0046325	Process	Negative regulation of glucose import	IDA	24340098
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA	21873635
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	17344214
GO:0046628	Process	Positive regulation of insulin receptor signaling pathway	IEA
GO:0046850	Process	Regulation of bone remodeling	ISS
GO:0046881	Process	Positive regulation of follicle-stimulating hormone secretion	IEA
GO:0048639	Process	Positive regulation of developmental growth	IDA	17957153
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050810	Process	Regulation of steroid biosynthetic process	IEA
GO:0050892	Process	Intestinal absorption	IDA	24340098
GO:0050901	Process	Leukocyte tethering or rolling	IEA
GO:0050999	Process	Regulation of nitric-oxide synthase activity	IDA	15899045
GO:0051428	Function	Peptide hormone receptor binding	IBA	21873635
GO:0051541	Process	Elastin metabolic process	IEA
GO:0051726	Process	Regulation of cell cycle	IDA	17344214
GO:0051897	Process	Positive regulation of protein kinase B signaling	ISS
GO:0060587	Process	Regulation of lipoprotein lipid oxidation	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0061037	Process	Negative regulation of cartilage development	IEA
GO:0070093	Process	Negative regulation of glucagon secretion	IEA
GO:0071298	Process	Cellular response to L-ascorbic acid	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0090335	Process	Regulation of brown fat cell differentiation	ISS
GO:0098868	Process	Bone growth	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27986616
GO:1900015	Process	Regulation of cytokine production involved in inflammatory response	IDA	19688109
GO:1900745	Process	Positive regulation of p38MAPK cascade	IBA	21873635
GO:1900745	Process	Positive regulation of p38MAPK cascade	IDA	24340098
GO:1904651	Process	Positive regulation of fat cell apoptotic process	IEA
GO:1990051	Process	Activation of protein kinase C activity	IBA	21873635
GO:1990051	Process	Activation of protein kinase C activity	IDA	24340098
GO:1990460	Function	Leptin receptor binding	IDA	27037668
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IEA
GO:2000486	Process	Negative regulation of glutamine transport	IEA
GO:2000491	Process	Positive regulation of hepatic stellate cell activation	IEA

Other IDs

• MIM: 164160
• HGNC: 6553
• e!Ensembl: ENSG00000174697

Protein

• UniProt ID: P41159
• Protein name: Leptin (Obese protein) (Obesity factor)
• Protein function: 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 pat
• PDB: 1AX8, 7Z3Q, 8AVE, 8AVF, 8AVO, 8K6Z, 8X80, 8X81, 8X85
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02024	Leptin	23 → 167	Leptin	Domain

• Sequence:

  MHWGTLCGFLWLWPYLFYVQAVPIQKVQDDTKTLIKTIVTRINDISHTQSVSSKQKVTGL
  DFIPGLHPILTLSKMDQTLAVYQQILTSMPSRNVIQISNDLENLRDLLHVLAFSKSCHLP
  WASGLETLDSLGGVLEASGYSTEVVALSRLQGSLQDMLWQLDLSPGC

• Sequence length: 167