LEPR - leptin receptor Gene
Also Known as OBR; OB-R; CD295; LEP-R; LEPRD
Species: Homo sapiens
About LEPR
This gene has 8 transcripts (splice variants), 206 orthologues, 23 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 22.2), endometrium (RPKM 12.0) and 23 other tissues.
Summary
The protein encoded by this gene belongs to the gp130 family of Cytokine Receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for Leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
LEPR Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001003679.3 | NP_001003679.1 | leptin receptor isoform 3 precursor |
| NM_001003680.3 | NP_001003680.1 | leptin receptor isoform 2 precursor |
| NM_001198687.2 | NP_001185616.1 | leptin receptor isoform 2 precursor |
| NM_001198688.1 | NP_001185617.1 | leptin receptor isoform 4 precursor |
| NM_001198689.2 | NP_001185618.1 | leptin receptor isoform 3 precursor |
| NM_002303.6 | NP_002294.2 | leptin receptor isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
20347812 | GOA |
| enables leptin receptor activity |
IDA
IDA: Inferred from direct assay
|
20977476 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11279102 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in angiogenesis |
IMP
IMP: Inferred from mutant phenotype
|
21771332 | GOA |
| involved in leptin-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
27037668 | GOA |
| involved in negative regulation of autophagy |
IDA
IDA: Inferred from direct assay
|
25060689 | GOA |
| involved in positive regulation of protein phosphorylation |
IDA
IDA: Inferred from direct assay
|
27037668 | GOA |
| involved in regulation of transport |
IDA
IDA: Inferred from direct assay
|
20977476 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
23382219 | GOA |
LEPR Protein Structure
Lep_receptor_Ig: Ig-like C2-type domain (334 - 422)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1165 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
leptin receptor |
|
LEPR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
LEPR | P48357 | LEP | Homo sapiens | P41159 | 22405007 | |
|
Intra
|
LEPR | P48357 | LEPROT | Homo sapiens | O15243 | 18042720 | |
|
Intra
|
LEPR | P48357 | LEPROT | Homo sapiens | O15243 | 18042720 | |
|
Intra
|
LEPR | P48357 | GRB2 | Homo sapiens | P62993 | 17474147 |
Recombinant LEPR Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72524 | Leptin Receptor/LEPR Protein, Human (HEK293, His) | P48357-1 (F22-D839) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73273 | Leptin Receptor/LEPR Protein, Human (HEK293, His-Fc) | P48357-1 (F22-D839) | ≥ 95%, as determined by reducing SDS-PAGE. |
LEPR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82748 | Leptin Receptor Antibody (YA2493) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Leptin Receptor Deficiency |
|
|
| Leptin Deficiency Or Dysfunction |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Anorexia Nervosa |
|
|
| Fatty Liver Disease |
|
|
| Glucose Intolerance |
|
|
| Eating Disorder |
|
|
| Hypogonadotropic Hypogonadism |
|
|
| Liver Disease |
|
|
| Hypogonadism |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Prader-Willi Syndrome |
|
|
| Gestational Diabetes |
|
|
| Craniopharyngioma |
|
|
| Non-Alcoholic Fatty Liver Disease |
|
|
| Sleep Apnea |
|
|
| Liver Cirrhosis |
|
|
| Hyperinsulinism |
|
|
| Pre-Eclampsia |
|
|
| Bardet-Biedl Syndrome |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Hyperlipidemia, Familial Combined, 3 |
|
|
| Hellp Syndrome |
|
|
| Prediabetes Syndrome |
|
|
| Endometrial Cancer |
|
|
| Nutritional Deficiency Disease |
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
|
| Diabetes Mellitus |
|
|
| Kallmann Syndrome |
|
|
| Overnutrition |
|
|
| Infertility |
|
|
| Acquired Metabolic Disease |
|
|
| Osteoporosis |
|
|
| Hypertension, Essential |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Scoliosis |
|
|
| Colorectal Cancer |
|
|
| Cardiovascular System Disease |
|
|
| Breast Cancer |
|
|
| Type 1 Diabetes Mellitus 8 |
|
|
| Lipid Metabolism Disorder |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | LEPR | VGNC | VGNC:30843 |
| Mus musculus | LEPR | MGD | MGI:104993 |
| Macaca mulatta | LEPR | VGNC | VGNC:81429 |
| Canis familiaris | LEPR | VGNC | VGNC:42638 |
| Felis catus | LEPR | VGNC | VGNC:68035 |
| Rattus norvegicus | LEPR | RGD | RGD:3001 |
| Others | LEPR | NCBI |