LEPROT
Leptin Receptor Overlapping Transcript (LEPROT) Gene
Gene Information Card
| Symbol | LEPROT |
|---|---|
| Full Name | Leptin Receptor Overlapping Transcript |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 54741 ncbi.nlm.nih.gov/gene/54741 |
| Ensembl ID | ENSG00000162572 |
| UniProt ID | O15243 |
| OMIM ID | 607075 |
| HGNC ID | 29535 |
| Aliases | LEPROT1, OB-RGRP, OB-RG, LEPROT1 |
Description
LEPROT (Leptin Receptor Overlapping Transcript) is a protein-coding gene located on chromosome 1p31.3. It encodes a transmembrane protein that interacts with the leptin receptor (LEPR) and modulates leptin signaling. LEPROT is involved in energy homeostasis, body weight regulation, and may play a role in obesity and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | LEPROT variants may alter leptin receptor function, affecting satiety and energy balance. | ClinVar, OMIM |
| Type 2 Diabetes | Dysregulation of leptin signaling via LEPROT may contribute to insulin resistance. | NCBI Gene, literature |
| Metabolic Syndrome | LEPROT expression changes are associated with altered lipid and glucose metabolism. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Adipose Tissue | 8.1 | Medium |
| Liver | 3.4 | Low |
| Pancreas | 6.7 | Medium |
| Muscle | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.5 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 6.1 | Neuroblastoma cell line |
| 3T3-L1 | 9.2 | Adipocyte precursor cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.454G>A (p.Gly152Ser) | Missense | <0.01% | Likely benign; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in LEPROT.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • leptin receptor binding | • protein homodimerization activity |
| • membrane | • integral component of membrane |
| • leptin-mediated signaling pathway | • energy homeostasis |
Pathways
• Leptin signaling pathway
• Adipocytokine signaling pathway
Protein Summary
The LEPROT protein is a 184-amino acid transmembrane protein that forms homodimers and interacts with the leptin receptor (LEPR). It is involved in the modulation of leptin signaling, which regulates appetite, energy expenditure, and body weight. LEPROT is expressed in various tissues, including brain, adipose tissue, and liver, and its dysregulation is linked to obesity and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LEPROTL1 Knockout HEK293 Cell Line | EDJ-KQ7355 | Human | 23484 | Details Get a Quote |
| LEPROT Knockout HEK293 Cell Line | EDJ-KQ12000 | Human | 54741 | Details Get a Quote |
| LEPROTL1 Knockout A-549 Cell Line | EDJ-KQ33803 | Human | 23484 | Details Get a Quote |
| LEPROTL1 Knockout HCT 116 Cell Line | EDJ-KQ33804 | Human | 23484 | Details Get a Quote |
| LEPROTL1 Knockout HeLa Cell Line | EDJ-KQ33805 | Human | 23484 | Details Get a Quote |
| LEPROT Knockout A-549 Cell Line | EDJ-KQ40579 | Human | 54741 | Details Get a Quote |
| LEPROT Knockout HCT 116 Cell Line | EDJ-KQ40580 | Human | 54741 | Details Get a Quote |
| LEPROT Knockout HeLa Cell Line | EDJ-KQ40581 | Human | 54741 | Details Get a Quote |
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