SAMHD1 Gene Summary [Human]
This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | SAMHD1 |
| Official Name | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:15925] |
| Ensembl ID | ENSG00000101347 |
| Bio databases IDs | |
| Aliases | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1, HD domain containing 1, monocyte protein 5, Aicardi-Goutieres syndrome 5 |
| Synonyms | CHBL2, DCIP, DKFZP564A032, E330031J07Rik, HDDC1, hSAMHD1, Mg11, MOP-5, mSAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1, SAM domain and HD domain, 1, SBBI88 |
| 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 SAMHD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nucleotide binding
- nucleic acid binding
- SAM (Sterile alpha motif )
- triphosphoric monoester hydrolase
- enzyme
- protein binding
- purine nucleotide binding
- identical protein binding
- RNA binding
- dGTPase
- Sterile alpha motif
- binding protein
- zinc ion binding
- single-stranded DNA binding
- ribonuclease
- SAM domain (Sterile alpha motif)
- guanyl nucleotide binding
- HDc
- HD domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- facioscapulohumeral muscular dystrophy
- Aicardi-Goutieres syndrome 5
- organismal death
- Aicardi-Goutieres syndrome
- diffuse large B-cell lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- survival
- lung adenocarcinoma
role in cell
- phosphorylation in
- depletion in
- expression in
- molecular cleavage in
- apoptosis
- cell viability
- activation in
- formation
- growth
- 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.
- Nucleus
- tetraspanin-enriched microdomain
- Cytoplasm
- Plasma Membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SAMHD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- deoxyribonucleotide catabolic process
- double-strand break repair via homologous recombination
- negative regulation of type I interferon-mediated signaling pathway
- response to DNA damage stimulus
- dGTP catabolic process
- protein homotetramerization
- immune response
- innate immune response
- regulation of innate immune response
- defense response to virus
- dATP catabolic process
- somatic hypermutation of immunoglobulin genes
Cellular Component
Where in the cell the gene product is active
- nucleus
- site of double-strand break
- tetraspanin-enriched microdomain
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- GTP binding
- identical protein binding
- zinc ion binding
- protein binding
- RNA binding
- ribonuclease activity
- triphosphoric monoester hydrolase activity
- dGTPase activity
- dGTP binding
- single-stranded DNA binding