SAP30 Gene
Sin3A Associated Protein 30
Gene Information Card
| Symbol | SAP30 |
|---|---|
| Full Name | Sin3A Associated Protein 30 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q34.1 |
| NCBI Gene ID | 8819 ncbi.nlm.nih.gov/gene/8819 |
| Ensembl ID | ENSG00000164104 |
| UniProt ID | O75446 |
| OMIM ID | 603378 |
| HGNC ID | 10560 |
| Aliases | SAP30, Sin3A-associated protein 30kDa, HsT18721 |
Description
SAP30 (Sin3A Associated Protein 30) encodes a component of the Sin3A histone deacetylase (HDAC) complex, which mediates transcriptional repression by deacetylating histones and recruiting chromatin remodeling factors. The protein is involved in cell cycle regulation, differentiation, and apoptosis. SAP30 is ubiquitously expressed and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SAP30 overexpression may alter HDAC complex activity, promoting tumorigenesis | PMID: 12354768 |
| Colorectal cancer | SAP30 downregulation linked to aberrant gene silencing via HDAC recruitment | PMID: 15616553 |
| Huntington disease | SAP30 interacts with mutant huntingtin, affecting transcriptional dysregulation | PMID: 12446702 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Kidney | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| MCF7 | 9.8 | Low expression |
| HepG2 | 13.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect |
| c.215C>T | nonsense | <0.01% | Predicted loss of function |
| c.340G>A | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.215C>T) likely cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG hsa05034 - Huntington disease
• Reactome R-HSA-3214815 - HDACs deacetylate histones
• Reactome R-HSA-212300 - PRC2 methylates histones and DNA
Protein Summary
SAP30 is a 30 kDa protein that contains a conserved Sin3 interaction domain. It acts as a scaffold within the Sin3/HDAC complex, bridging the core repressor Sin3 with other components such as HDAC1/2 and RbAp46/48. SAP30 is essential for transcriptional repression of genes involved in cell cycle progression and differentiation. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and complex assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAP30 Knockout HEK293 Cell Line | EDJ-KQ6373 | Human | 8819 | Details Get a Quote |
| SAP30L Knockout HEK293 Cell Line | EDJ-KQ15166 | Human | 79685 | Details Get a Quote |
| SAP30 Knockout HeLa Cell Line | EDJ-KQ29044 | Human | 8819 | Details Get a Quote |
| SAP30L Knockout A-549 Cell Line | EDJ-KQ47945 | Human | 79685 | Details Get a Quote |
| SAP30L Knockout HCT 116 Cell Line | EDJ-KQ47946 | Human | 79685 | Details Get a Quote |
| SAP30L Knockout HeLa Cell Line | EDJ-KQ47947 | Human | 79685 | Details Get a Quote |
| SAP30 Knockout A-549 Cell Line | EDJ-KQ30363 | Human | 8819 | Details Get a Quote |
| SAP30 Knockout HCT 116 Cell Line | EDJ-KQ30364 | Human | 8819 | Details Get a Quote |
| SAP30BP Knockout HEK293 Cell Line | EDJ-KQ51236 | Human | 29115 | Details Get a Quote |
| SAP30BP Knockout HeLa Cell Line | EDJ-KQ56100 | Human | 29115 | Details Get a Quote |
| SAP30BP Knockout A-549 Cell Line | EDJ-KQ64586 | Human | 29115 | Details Get a Quote |
| SAP30BP Knockout HCT 116 Cell Line | EDJ-KQ73040 | Human | 29115 | Details Get a Quote |
