Human Gene LEP (ENST00000308868.5_4) from GENCODE V47lift37
  Description: leptin (from RefSeq NM_000230.3)
Gencode Transcript: ENST00000308868.5_4
Gencode Gene: ENSG00000174697.5_7
Transcript (Including UTRs)
   Position: hg19 chr7:127,881,331-127,897,682 Size: 16,352 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr7:127,892,072-127,894,816 Size: 2,745 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:127,881,331-127,897,682)mRNA (may differ from genome)Protein (167 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LEP_HUMAN
DESCRIPTION: RecName: Full=Leptin; AltName: Full=Obese protein; AltName: Full=Obesity factor; Flags: Precursor;
FUNCTION: May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass.
SUBUNIT: Interacts with SIGLEC6.
SUBCELLULAR LOCATION: Secreted.
DISEASE: Defects in LEP may be a cause of obesity (OBESITY) [MIM:601665]. It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
SIMILARITY: Belongs to the leptin family.
WEB RESOURCE: Name=R&D Systems' cytokine mini-reviews: Leptin; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1773";
WEB RESOURCE: Name=Wikipedia; Note=Leptin entry; URL="http://en.wikipedia.org/wiki/Leptin";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/lep/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LEP
Diseases sorted by gene-association score: obesity, morbid, due to leptin deficiency* (1550), obesity due to congenital leptin deficiency* (500), congenital leptin deficiency* (418), overnutrition (28), morbid obesity (26), eating disorder (24), obstructive sleep apnea (23), gestational diabetes (22), obesity (21), severe pre-eclampsia (20), glucose intolerance (19), anorexia nervosa (19), bulimia nervosa (18), idiopathic recurrent pericarditis (18), familial partial lipodystrophy (15), sleep apnea (15), hyperinsulinism (15), fatty liver disease (13), classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (13), acanthosis nigricans (13), protein-energy malnutrition (12), acquired metabolic disease (12), nonalcoholic steatohepatitis (11), acquired generalized lipodystrophy (11), muscle hypertrophy (11), alstrom syndrome (10), polycystic ovary syndrome (10), nutritional deficiency disease (10), lipodystrophy (10), congenital generalized lipodystrophy (9), myoma (9), berardinelli-seip congenital lipodystrophy (9), lipodystrophy, familial partial, type 2 (9), nontuberculous mycobacterial lung disease (9), premature ejaculation (9), placental insufficiency (9), chronic kidney failure (9), prader-willi syndrome (9), central sleep apnea (9), abdominal obesity-metabolic syndrome 1 (8), placental choriocarcinoma (8), sick building syndrome (8), diabetic foot ulcers (8), uremia (8), hyperglycemia (8), gastrointestinal adenoma (8), central precocious puberty (8), amenorrhea (8), abdominal obesity-metabolic syndrome (7), hyperthyroidism (7), lipid metabolism disorder (7), glucose metabolism disease (7), lipoblastoma (7), adolescent idiopathic scoliosis (7), endocrine pancreas disease (7), coronary artery aneurysm (7), narcolepsy (7), idiopathic scoliosis (6), avascular necrosis of the femoral head (6), poliomyelitis (6), mass syndrome (6), liver disease (6), diabetes mellitus, noninsulin-dependent (6), anovulation (6), prediabetes syndrome (6), adrenal gland hyperfunction (5), hypoplastic left heart syndrome (5), pancreas disease (5), lateral medullary syndrome (5), multiple symmetrical lipomatosis (5), diabetes mellitus, insulin-dependent (5), sleep disorder (5), mild pre-eclampsia (5), preeclampsia/eclampsia 1 (4), fetal macrosomia (4), pre-eclampsia (3), osteoporosis (3), asthma (2), insulin-like growth factor i (2), bardet-biedl syndrome (2), kallmann syndrome (1), hypertension, essential (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 100.95 RPKM in Adipose - Subcutaneous
Total median expression: 166.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.7057-0.258 Picture PostScript Text
3' UTR -1084.702866-0.378 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009079 - 4_helix_cytokine-like_core
IPR012351 - 4_helix_cytokine_core
IPR000065 - Leptin

Pfam Domains:
PF02024 - Leptin

SCOP Domains:
47266 - 4-helical cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1AX8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P41159
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005179 hormone activity
GO:0051428 peptide hormone receptor binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
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:0001936 regulation of endothelial cell proliferation
GO:0002021 response to dietary excess
GO:0003300 cardiac muscle hypertrophy
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 proliferation
GO:0008343 adult feeding behavior
GO:0009062 fatty acid catabolic process
GO:0009892 negative regulation of metabolic process
GO:0010469 regulation of receptor activity
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:0032615 interleukin-12 production
GO:0032635 interleukin-6 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: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: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 JAK-STAT cascade
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:0048639 positive regulation of developmental growth
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: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:0072604 interleukin-6 secretion
GO:0072606 interleukin-8 secretion
GO:0090335 regulation of brown fat cell differentiation
GO:0098868 bone growth
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: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

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  U43653 - Human obese protein (ob) mRNA, complete cds.
AK313553 - Homo sapiens cDNA, FLJ94114, highly similar to Homo sapiens leptin (obesity homolog, mouse) (LEP), mRNA.
BC060830 - Homo sapiens leptin, mRNA (cDNA clone MGC:71704 IMAGE:30333193), complete cds.
BC069323 - Homo sapiens leptin, mRNA (cDNA clone MGC:96888 IMAGE:7262097), complete cds.
BC069452 - Homo sapiens leptin, mRNA (cDNA clone MGC:96900 IMAGE:7262109), complete cds.
BC069527 - Homo sapiens leptin, mRNA (cDNA clone MGC:96912 IMAGE:7262121), complete cds.
AF008123 - Homo sapiens obese protein (ob) mRNA, complete cds.
D49487 - Homo sapiens obese mRNA, complete cds.
AB464606 - Synthetic construct DNA, clone: pF1KB8876, Homo sapiens LEP gene for leptin, without stop codon, in Flexi system.
LV577653 - JP 2017500865-A/13: LEPTIN MRNA COMPOSITIONS AND FORMULATIONS.
CU686749 - Synthetic construct Homo sapiens gateway clone IMAGE:100022614 5' read LEP mRNA.
HQ448411 - Synthetic construct Homo sapiens clone IMAGE:100071838; CCSB013790_01 leptin (obesity homolog, mouse) (LEP) gene, encodes complete protein.
KJ897126 - Synthetic construct Homo sapiens clone ccsbBroadEn_06520 LEP gene, encodes complete protein.
KR711315 - Synthetic construct Homo sapiens clone CCSBHm_00022833 LEP (LEP) mRNA, encodes complete protein.
KR711316 - Synthetic construct Homo sapiens clone CCSBHm_00022834 LEP (LEP) mRNA, encodes complete protein.
KR711317 - Synthetic construct Homo sapiens clone CCSBHm_00022835 LEP (LEP) mRNA, encodes complete protein.
LV577646 - JP 2017500865-A/6: LEPTIN MRNA COMPOSITIONS AND FORMULATIONS.
U18915 - Human obese (ob) mRNA, complete cds.
JD071719 - Sequence 52743 from Patent EP1572962.
JD539853 - Sequence 520877 from Patent EP1572962.
JD284757 - Sequence 265781 from Patent EP1572962.
JD096628 - Sequence 77652 from Patent EP1572962.
JD174208 - Sequence 155232 from Patent EP1572962.
JD289850 - Sequence 270874 from Patent EP1572962.
JD118036 - Sequence 99060 from Patent EP1572962.
JD331273 - Sequence 312297 from Patent EP1572962.
JD554529 - Sequence 535553 from Patent EP1572962.
JD246076 - Sequence 227100 from Patent EP1572962.
JD331380 - Sequence 312404 from Patent EP1572962.
JD165939 - Sequence 146963 from Patent EP1572962.
JD261699 - Sequence 242723 from Patent EP1572962.
JD054180 - Sequence 35204 from Patent EP1572962.
JD126735 - Sequence 107759 from Patent EP1572962.
JD229268 - Sequence 210292 from Patent EP1572962.
JD195703 - Sequence 176727 from Patent EP1572962.
JD355375 - Sequence 336399 from Patent EP1572962.
JD451646 - Sequence 432670 from Patent EP1572962.
JD479334 - Sequence 460358 from Patent EP1572962.
JD416782 - Sequence 397806 from Patent EP1572962.
JD043719 - Sequence 24743 from Patent EP1572962.
JD265368 - Sequence 246392 from Patent EP1572962.
JD548320 - Sequence 529344 from Patent EP1572962.
JD159340 - Sequence 140364 from Patent EP1572962.
JD231785 - Sequence 212809 from Patent EP1572962.
JD475458 - Sequence 456482 from Patent EP1572962.
JD092709 - Sequence 73733 from Patent EP1572962.
JD455225 - Sequence 436249 from Patent EP1572962.
JD236136 - Sequence 217160 from Patent EP1572962.
JD156800 - Sequence 137824 from Patent EP1572962.
JD557767 - Sequence 538791 from Patent EP1572962.
JD350653 - Sequence 331677 from Patent EP1572962.
JD236801 - Sequence 217825 from Patent EP1572962.
JD288493 - Sequence 269517 from Patent EP1572962.
JD385295 - Sequence 366319 from Patent EP1572962.
JD216950 - Sequence 197974 from Patent EP1572962.
JD091003 - Sequence 72027 from Patent EP1572962.
JD052383 - Sequence 33407 from Patent EP1572962.
JD173911 - Sequence 154935 from Patent EP1572962.
JD254356 - Sequence 235380 from Patent EP1572962.
JD495907 - Sequence 476931 from Patent EP1572962.
JD507665 - Sequence 488689 from Patent EP1572962.
JD331408 - Sequence 312432 from Patent EP1572962.
JD233144 - Sequence 214168 from Patent EP1572962.
JD282604 - Sequence 263628 from Patent EP1572962.
JD446201 - Sequence 427225 from Patent EP1572962.
JD177254 - Sequence 158278 from Patent EP1572962.
JD317609 - Sequence 298633 from Patent EP1572962.
JD106298 - Sequence 87322 from Patent EP1572962.
JD063997 - Sequence 45021 from Patent EP1572962.
JD345483 - Sequence 326507 from Patent EP1572962.
JD342465 - Sequence 323489 from Patent EP1572962.
JD442382 - Sequence 423406 from Patent EP1572962.
JD131387 - Sequence 112411 from Patent EP1572962.
JD344217 - Sequence 325241 from Patent EP1572962.
JD355605 - Sequence 336629 from Patent EP1572962.
JD143434 - Sequence 124458 from Patent EP1572962.
JD228641 - Sequence 209665 from Patent EP1572962.
JD194839 - Sequence 175863 from Patent EP1572962.
JD194840 - Sequence 175864 from Patent EP1572962.
JD079452 - Sequence 60476 from Patent EP1572962.
JD428836 - Sequence 409860 from Patent EP1572962.
JD502458 - Sequence 483482 from Patent EP1572962.
JD037087 - Sequence 18111 from Patent EP1572962.
JD307098 - Sequence 288122 from Patent EP1572962.
JD322977 - Sequence 304001 from Patent EP1572962.
JD401655 - Sequence 382679 from Patent EP1572962.
JD401656 - Sequence 382680 from Patent EP1572962.
JD425088 - Sequence 406112 from Patent EP1572962.
JD096431 - Sequence 77455 from Patent EP1572962.
JD308903 - Sequence 289927 from Patent EP1572962.
JD332323 - Sequence 313347 from Patent EP1572962.
JD448303 - Sequence 429327 from Patent EP1572962.
JD351706 - Sequence 332730 from Patent EP1572962.
JD523380 - Sequence 504404 from Patent EP1572962.
JD406713 - Sequence 387737 from Patent EP1572962.
JD461336 - Sequence 442360 from Patent EP1572962.
JD405267 - Sequence 386291 from Patent EP1572962.
JD185499 - Sequence 166523 from Patent EP1572962.
JD417160 - Sequence 398184 from Patent EP1572962.
JD520567 - Sequence 501591 from Patent EP1572962.
JD142513 - Sequence 123537 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_leptinPathway - Reversal of Insulin Resistance by Leptin

Reactome (by CSHL, EBI, and GO)

Protein P41159 (Reactome details) participates in the following event(s):

R-HSA-2586559 Leptin Binds Leptin Receptor
R-HSA-2586555 JAK2 Autophosphorylates in Response to Leptin
R-HSA-2586553 JAK2 Phosphorylates LEPR
R-HSA-2671747 Phosphorylated LEPR Binds SHP2 (PTPN11)
R-HSA-2671855 Phosphorylated LEPR Binds STAT5
R-HSA-2671868 Phosphorylated LEPR Binds STAT3
R-HSA-2671872 Phosphorylated LEP:LEPR:JAK2 Binds SH2B1
R-HSA-2672302 Phosphorylated LEPR Binds SOCS3
R-HSA-2671839 Phosphorylated STAT3 Dissociates from Leptin Receptor
R-HSA-2671876 Phosphorylated STAT5 Dissociates from Leptin Receptor
R-HSA-2671742 JAK2 Phosphorylates SHP2 (PTPN11) in Response to Leptin
R-HSA-2671829 JAK2 Phosphorylates STAT5 in Response to Leptin
R-HSA-2671862 JAK2 Phosphorylates IRS in Response to Leptin
R-HSA-2671873 Phosphorylated LEP:LEPR:JAK2:SH2B1 Binds IRS1/2
R-HSA-2671850 JAK2 Phosphoryates STAT3 in Response to Leptin
R-HSA-2586552 Signaling by Leptin
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000308868.1, ENST00000308868.2, ENST00000308868.3, ENST00000308868.4, LEP , LEP_HUMAN, NM_000230, O15158, OB , OBS , P41159, Q56A88, uc317oka.1, uc317oka.2
UCSC ID: ENST00000308868.5_4
RefSeq Accession: NM_000230.3
Protein: P41159 (aka LEP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.