SAMD9L Gene Summary [Human]
This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]
Details
| Type | Protein Coding |
| Official Symbol | SAMD9L |
| Official Name | sterile alpha motif domain containing 9 like [Source:HGNC Symbol;Acc:HGNC:1349] |
| Ensembl ID | ENSG00000177409 |
| Bio databases IDs | |
| Aliases | sterile alpha motif domain containing 9 like |
| Synonyms | ATXPC, C7DELq, C7ORF6, DEL7q, DRIF2, ESTM25, FLJ39885, M7MLS1, mKIAA2005, MLSM7, NM, SCA49, sterile alpha motif domain containing 9-like, sterile α motif domain containing 9-like, UEF1 |
| 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 SAMD9L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SAM (Sterile alpha motif )
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- rheumatoid arthritis
- epithelial cancer
- COVID-19
- systemic lupus erythematosus
- monosomy 7 myelodysplasia and leukemia syndrome type 1
- hepatocellular carcinoma
- liver cancer
- ulcerative colitis
- spinocerebellar ataxia type 49
role in cell
- proliferation
- cell death
- migration
- invasion by
- differentiation
- translation in
- cell division
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Mitochondria
- early endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SAMD9L gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- early endosome
- cytoplasm
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding