LEPROTL1 Gene - Leptin Receptor Overlapping Transcript-Like 1
Comprehensive genomic and functional annotation of LEPROTL1, a gene encoding a protein involved in intracellular trafficking and potential roles in cellular signaling.
Gene Information Card
| Symbol | LEPROTL1 |
|---|---|
| Full Name | Leptin Receptor Overlapping Transcript-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 23484 ncbi.nlm.nih.gov/gene/23484 |
| Ensembl ID | ENSG00000104611 |
| UniProt ID | O95215 |
| OMIM ID | 610333 |
| HGNC ID | 29549 |
| Aliases | LEPRL1, LEPROT, LEPROTL1 |
Description
LEPROTL1 (Leptin Receptor Overlapping Transcript-Like 1) is a protein-coding gene located on chromosome 8p21.3. The encoded protein shares similarity with the leptin receptor but its exact function is not fully characterized. It is involved in intracellular trafficking and may play a role in endosomal sorting and signaling pathways. LEPROTL1 is ubiquitously expressed with higher levels in certain tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Moderate expression |
| HeLa | 22.1 | Moderate expression |
| K562 | 14.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, uncertain significance |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • endosome (GO:0005768) |
| • intracellular protein transport (GO:0006886) | • vesicle-mediated transport (GO:0016192) |
Pathways
• Endosomal sorting complex required for transport (ESCRT) - related (inferred)
• Intracellular trafficking (inferred)
Protein Summary
The LEPROTL1 protein (UniProt O95215) is a 147-amino acid protein with a molecular weight of approximately 16.5 kDa. It contains a transmembrane domain and is localized to endosomes. It is thought to participate in endosomal sorting and vesicular trafficking, potentially interacting with components of the ESCRT machinery. The protein is widely expressed and may have a role in cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LEPROTL1 Knockout HEK293 Cell Line | EDJ-KQ7355 | Human | 23484 | 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 |
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