M6PR Gene Summary [Human]
This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]
Details
| Type | Protein Coding |
| Official Symbol | M6PR |
| Official Name | mannose-6-phosphate receptor, cation dependent [Source:HGNC Symbol;Acc:HGNC:6752] |
| Ensembl ID | ENSG00000003056 |
| Bio databases IDs | |
| Aliases | mannose-6-phosphate receptor, cation dependent |
| Synonyms | CD-M6PR, CD-MPR, Mannose-6-phosphate receptor, mannose-6-phosphate receptor, cation dependent, MPR-46, SMPR |
| Species | Human, Homo sapiens |
| Orthologies |
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 M6PR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phenylalanine-tryptophan motif
- acidic-cluster dileucine motif
- dileucine internalization motif
- binding protein
- Mannose-6-phosphate receptor
- cytoplasmic domain
- protein binding
- cytosolic tail domain
- Autophagy-related protein 27
- transmembrane receptor
- transporter
Pathways
Biological processes and signaling networks where the M6PR gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin-dependent diabetes mellitus
- glycogen storage disease type II
- late onset glycogen storage disease type II
- gait disturbance
- organismal death
- gastric adenocarcinoma
- gastric epithelial cancer
- renal clear cell adenocarcinoma
- renal clear cell cancer
- infantile glycogen storage disease type II
role in cell
- cell death
- quantity
- endocytosis by
- formation
- lysis
- replication in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- early endosome-associated tubule
- endocytic vesicle membrane
- cell surface
- Golgi region
- perinuclear region
- cellular membrane
- vacuole
- Plasma Membrane
- endosomes
- vesicles
- Golgi membrane
- trans Golgi network
- lysosome membrane
- endosomal compartment
- recycling endosomes
- early endosomes
- late endosomes
- transport vesicles
- endocytotic vesicle
- GLUT4 vesicles
- peripheral vesicles
- clathrin-coated pits
- clathrin-coated vesicles
- autophagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human M6PR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosomal transport
- glycosphingolipid catabolic process
- endosome to lysosome transport
- secretion of lysosomal enzymes
- protein targeting to lysosome
- receptor-mediated endocytosis
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- endosome
- perinuclear region of cytoplasm
- clathrin-coated endocytic vesicle membrane
- membrane
- late endosome
- transport vesicle
- trans-Golgi network membrane
- plasma membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding
- transmembrane signaling receptor activity