LRSAM1 Gene Summary [Human]
This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | LRSAM1 |
| Official Name | leucine rich repeat and sterile alpha motif containing 1 [Source:HGNC Symbol;Acc:HGNC:25135] |
| Ensembl ID | ENSG00000148356 |
| Bio databases IDs | |
| Aliases | leucine rich repeat and sterile alpha motif containing 1, E3 ubiquitin-protein ligase LRSAM1, TSG 101-associated ligase, RING finger leucine repeat rich |
| Synonyms | CMT2G, CMT2P, leucine rich repeat and sterile alpha motif containing 1, leucine rich repeat and sterile α motif containing 1, RGD1564403, RIFLE, TAL |
| 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 LRSAM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ermad domain
- Tropomyosin like
- SAM (Sterile alpha motif )
- ubiquitin protein ligase activity
- SAM domain
- Leucine rich repeat
- coiled-coil domain
- enzyme
- PSAP motif
- protein binding
- tandem tetrapeptide motif
- Sterile alpha motif
- leucine-rich repeat
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- ubiquitin-protein transferase activity
- SAM domain (Sterile alpha motif)
- PTAP motif
- Zinc finger, C3HC4 type (RING finger)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cellular membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LRSAM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ubiquitin-dependent endocytosis
- negative regulation of endocytosis
- autophagy
- protein catabolic process
- protein polyubiquitination
- non-lytic virus budding
- positive regulation of autophagic vacuole assembly
- protein autoubiquitination
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- protein binding
- metal ion binding