SP100 Gene Summary [Human]
This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | SP100 |
| Official Name | SP100 nuclear antigen [Source:HGNC Symbol;Acc:HGNC:11206] |
| Ensembl ID | ENSG00000067066 |
| Bio databases IDs | |
| Aliases | SP100 nuclear antigen |
| Synonyms | A430075G10Rik, lysp100b, nuclear antigen Sp100, SP100 nuclear antigen, Speckled 100 kDa |
| 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 SP100 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- KDWK domain
- protein dimerization
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- PHD zinc finger
- transcription regulator
- dimerization domain
- Sumoylation motif
- high mobility group (HMG)-box domain superfamily
- transcription co-repressor
- transcription factor binding
- protein domain specific binding
- protein binding
- Bromodomain
- identical protein binding
- HSR domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- kinase binding
- homodimerization domain
- high mobility group
- protein homodimerization
- PHD finger superfamily
- SAND domain
Pathways
Biological processes and signaling networks where the SP100 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
- Huntington disease
- Alzheimer disease
- T-cell non-Hodgkin disease
- COVID-19
- neoplastic cell transformation
- neonatal late-onset sepsis
- peripheral T-cell lymphoma
- mature T-cell neoplasia
- hyperzincemia and hypercalprotectinemia autoinflammatory syndrome
- idiopathic inflammatory myopathy
role in cell
- expression in
- activation in
- migration
- acetylation in
- invasion
- migration by
- hydrolysis in
- transactivation in
- accumulation in
- transcription 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 matrix fraction
- ND10 structure
- Cytoplasm
- nuclear foci
- nucleoplasm
- nucleoli
- nuclear bodies
- PML nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SP100 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein export from nucleus
- interferon-gamma-mediated signaling pathway
- response to interferon-gamma
- response to type I interferon
- regulation of angiogenesis
- telomere maintenance
- negative regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- type I interferon-mediated signaling pathway
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- maintenance of protein location
- negative regulation of DNA binding
- DNA damage response, signal transduction by p53 class mediator
- negative regulation of endothelial cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome, telomeric region
- nuclear body
- PML body
- cytoplasm
- Mre11 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- protein domain specific binding
- protein binding
- chromo shadow domain binding
- protein dimerization activity
- kinase binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity