LEPROT Gene Summary [Human]

LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]

Details

Type
Protein Coding
Official Symbol
LEPROT
Official Name
leptin receptor overlapping transcript [Source:HGNC Symbol;Acc:HGNC:29477]
Ensembl ID
ENSG00000213625
Bio databases IDs NCBI: 54741 Ensembl: ENSG00000213625
Aliases leptin receptor overlapping transcript, leptin receptor gene related protein, endospanin-1, endospanin
Synonyms Endo1', Endospanin1, LEPR, leptin receptor overlapping transcript, OB-RGRP, VPS55
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LEPROT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Vacuolar protein sorting 55
  • protein binding
  • receptor binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Waldenström macroglobulinemia
regulated by
regulates
role in cell
  • cell viability

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • endosomes
  • Golgi Apparatus

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human LEPROT gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of protein localization at cell surface
  • negative regulation of growth hormone receptor signaling pathway
  • late endosome to vacuole transport via multivesicular body sorting pathway
  • negative regulation of JAK-STAT cascade

Cellular Component

Where in the cell the gene product is active
  • endosome
  • Golgi membrane
  • endosome membrane
  • Golgi apparatus

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • receptor binding

Gene-Specific Assays for Results You Can Trust

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