SAP30BP: SAP30 Binding Protein
Transcriptional Regulator and Potential Tumor Suppressor
Gene Information Card
| Symbol | SAP30BP |
|---|---|
| Full Name | SAP30 binding protein |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 29115 ncbi.nlm.nih.gov/gene/29115 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9UHR5 |
| OMIM ID | 617445 |
| HGNC ID | 24247 |
| Aliases | HCNGP, HTT-interacting protein A, SAP30BP1 |
Description
SAP30BP (SAP30 binding protein) is a protein-coding gene located on chromosome 17q25.3. It encodes a protein that interacts with SAP30, a component of the Sin3A-histone deacetylase (HDAC) complex, and is involved in transcriptional repression and chromatin remodeling. The protein also interacts with huntingtin (HTT) and may play a role in neuronal function. SAP30BP is expressed in multiple tissues and has been implicated in cancer and neurodegenerative processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | SAP30BP interacts with huntingtin protein (HTT); altered expression may affect HTT-mediated transcriptional dysregulation | PMID: 15689499 |
| Breast cancer | SAP30BP expression is downregulated in breast cancer tissues; may act as a tumor suppressor | PMID: 23592262 |
| Prostate cancer | Reduced SAP30BP expression correlates with poor prognosis and metastasis | PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| MCF7 | 6.1 | Breast cancer cells |
| SH-SY5Y | 14.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown functional effect; rare variant |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.01% | May affect protein interaction with SAP30 |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss, truncations) are predicted to impair SAP30 binding and transcriptional repression, potentially contributing to tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SAP30BP.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sin3A/HDAC complex-mediated transcriptional repression
• Huntingtin interaction pathway
Protein Summary
SAP30BP is a 220-amino acid protein that localizes to the nucleus and functions as a transcriptional corepressor by binding to SAP30, a component of the Sin3A-HDAC complex. It also interacts with huntingtin (HTT) and may modulate HTT-mediated gene regulation. The protein is expressed in various tissues, with higher levels in brain and testis. Altered expression or mutations in SAP30BP have been linked to cancer and Huntington disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
