SIAH1 Gene Summary [Human]
This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | SIAH1 |
| Official Name | siah E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:10857] |
| Ensembl ID | ENSG00000196470 |
| Bio databases IDs | |
| Aliases | siah E3 ubiquitin protein ligase 1 |
| Synonyms | AI853500, BURHAS, D9MGI7, SIAH, SIAH1A, siah E3 ubiquitin protein ligase 1, siah E3 ubiquitin protein ligase 1A, Sinh1a |
| 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 SIAH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase activity
- Seven in absentia protein family
- nuclear localization sequence
- protein domain specific binding
- Ubc binding domain
- enzyme
- protein binding
- identical protein binding
- acid-D-amino acid ligase
- zinc ion binding
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- ubiquitin-protein transferase activity
- protein homodimerization
- zinc finger domain
- substrate binding domain
Pathways
Biological processes and signaling networks where the SIAH1 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
- neoplasia
- gastric cancer
- COVID-19
- Buratti-Harel syndrome
- azoospermia
- neurodevelopmental disorder
role in cell
- proliferation
- expression in
- apoptosis
- survival
- cell death
- growth
- activation in
- binding in
- replication in
- mitosis
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
- Cytoplasm
- cytosol
- neurites
- early endosomes
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIAH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein catabolic process
- spermatogenesis
- nervous system development
- axon guidance
- anatomical structure morphogenesis
- ubiquitin-dependent protein catabolic process
- proteasomal ubiquitin-dependent protein catabolic process
- apoptotic process
- positive regulation of apoptotic process
- canonical Wnt receptor signaling pathway
- positive regulation of intrinsic apoptotic signaling pathway
- neuron apoptotic process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- beta-catenin destruction complex
- nucleus
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- identical protein binding
- zinc ion binding
- ubiquitin conjugating enzyme binding
- protein binding