SAP130: Sin3A Associated Protein 130
A subunit of the histone deacetylase (HDAC) complex involved in transcriptional regulation and RNA splicing.
Gene Information Card
| Symbol | SAP130 |
|---|---|
| Full Name | Sin3A Associated Protein 130 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 54107 ncbi.nlm.nih.gov/gene/54107 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9H0E3 |
| OMIM ID | 614511 |
| HGNC ID | 29822 |
| Aliases | SAP130, Sin3A-associated protein 130, KIAA0917 |
Description
SAP130 (Sin3A Associated Protein 130) encodes a protein that is a component of the Sin3A histone deacetylase (HDAC) complex, which mediates transcriptional repression by deacetylating histones. The protein also plays a role in RNA splicing as part of the U2 snRNP complex. SAP130 is ubiquitously expressed and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | SAP130 mutations may alter HDAC complex function, affecting gene expression regulation | COSMIC; PMID: 23563182 |
| Hepatocellular carcinoma | Overexpression of SAP130 associated with poor prognosis | PMID: 25642768 |
| Spliceosomal-related disorders | Mutations in SAP130 affect U2 snRNP assembly, leading to splicing defects | ClinVar; PMID: 27545680 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| HEK293 | 9.1 | Embryonic kidney cell line |
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| A549 | 6.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Unknown; possibly damaging (PolyPhen-2) |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • histone deacetylase activity (GO:0004407) | • nucleus (GO:0005634) |
| • spliceosomal complex (GO:0005681) | • regulation of transcription (GO:0006355) |
| • RNA splicing (GO:0008380) |
Pathways
• Histone deacetylase (HDAC) pathway
• Spliceosome pathway (KEGG: hsa03040)
Protein Summary
SAP130 is a 130 kDa protein that localizes to the nucleus. It contains a Sin3A-binding domain and interacts with HDAC1/2 to repress transcription. Additionally, it is a component of the U2 snRNP complex, facilitating pre-mRNA splicing. The protein is widely expressed and its dysregulation is linked to cancer progression.
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