NACC1 Gene Summary [Human]
This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | NACC1 |
| Official Name | nucleus accumbens associated 1 [Source:HGNC Symbol;Acc:HGNC:20967] |
| Ensembl ID | ENSG00000160877 |
| Bio databases IDs | |
| Aliases | nucleus accumbens associated 1, BEN domain containing 8 |
| Synonyms | 2010001H03Rik, 4930511N13Rik, BEND8, BTBD14B, BTBD30, NAC-1, NECFM, nucleus accumbens associated 1, nucleus accumbens associated 1, BEN and BTB (POZ) domain containing |
| 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 NACC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- The BEN domain is found in diverse animal proteins
- double-stranded DNA binding
- Broad-Complex, Tramtrack and Bric a brac
- nucleic acid binding
- BTB_POZ
- BTB/POZ domain
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cholangiocarcinoma
- neoplasia
- cholangiocarcinoma cancer
- liver cancer
- neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- perihilar cholangiocarcinoma
- HER2 negative hormone receptor negative breast cancer
- hereditary disorder
- organismal death
- global developmental delay
role in cell
- binding in
- activation in
- expression in
- apoptosis
- proliferation
- survival
- replication in
- phosphorylation in
- migration
- JG-231 resistance
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
- cell junction
- intracellular membrane-bounded organelle
- Cytoplasm
- nucleosomes
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NACC1 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
- negative regulation of transcription, DNA-dependent
- positive regulation of cell proliferation
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- intracellular membrane-bounded organelle
- cell junction
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- histone deacetylase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity