SPEN Gene Summary [Human]
This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SPEN |
| Official Name | spen family transcriptional repressor [Source:HGNC Symbol;Acc:HGNC:17575] |
| Ensembl ID | ENSG00000065526 |
| Bio databases IDs | |
| Aliases | spen family transcriptional repressor |
| Synonyms | HIAA0929, LOC100365546, MINT, mKIAA0929, RATARS, RBM15C, RGD1564662, SHARP, spen family transcriptional repressor, spen family transcription repressor |
| 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 SPEN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Msx2 binding domain
- RNA recognition motif (RRM) superfamily
- Family of unknown function (DUF5585)
- transcription regulator
- RAM domain
- Spen paralog and ortholog C-terminal domain
- SPOC domain
- RNA recognition motif
- transcription co-repressor
- transcription factor binding
- protein binding
- U2 snRNP auxilliary factor, large subunit, splicing factor
- SPOC (Spen paralog and ortholog C-terminal) domain superfamily
- RecF/RecN/SMC N terminal domain
- receptor binding domain
- transcription repression domain
- single-stranded DNA binding
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pervasive developmental disorder
- adenoid cystic carcinoma of salivary gland
- salivary gland cancer
- epithelial cancer
- Radio-Tartaglia syndrome
- hereditary disorder
- neoplasia
- prostatic carcinoma
- prostate cancer
- metastasis
role in cell
- expression in
- activation in
- proliferation
- reverse transcription
- differentiation
- morphology
- cell viability
- fusion
- reverse transcription in
- downregulation 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
- spliceosomes
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPEN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- Notch signaling pathway
- negative regulation of transcription, DNA-dependent
- positive regulation of neurogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- transcriptional repressor complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- RNA binding
- transcription corepressor activity
- mRNA binding