SON Gene Summary [Human]
This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | SON |
| Official Name | SON DNA and RNA binding protein [Source:HGNC Symbol;Acc:HGNC:11183] |
| Ensembl ID | ENSG00000159140 |
| Bio databases IDs | |
| Aliases | SON DNA and RNA binding protein, NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1 |
| Synonyms | 2900011L12Rik, AU067731, BASS1, C21orf50, DBP-5, DNA-5B, mKIAA1019, NREBP, SON3, SON DNA and RNA binding protein, Son DNA binding protein, TOKIMS |
| 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 SON often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RS domain binding
- G-patch domain
- Double-stranded RNA binding motif
- double-stranded RNA binding motif (DSRM) superfamily
- protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-small cell lung cancer
- hereditary disorder
- ZTTK syndrome
- Down syndrome
- autosomal dominant spastic paraplegia type 17
- mental retardation
role in cell
- formation
- cell death
- apoptosis
- cell cycle progression
- growth
- organization
- replication in
- alternative splicing 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
- nuclear fraction
- Cytoplasm
- interchromatin granule clusters
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SON gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing
- negative regulation of apoptotic process
- regulation of RNA splicing
- cytokinesis after mitosis
- regulation of nuclear mRNA splicing, via spliceosome
- mRNA processing
- microtubule cytoskeleton organization
- regulation of cell cycle
Cellular Component
Where in the cell the gene product is active
- nuclear speck
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- RNA binding