SINHCAF
SIN3-HDAC Complex Associated Factor
Gene Information Card
| Symbol | SINHCAF |
|---|---|
| Full Name | SIN3-HDAC Complex Associated Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 12p11.21 |
| NCBI Gene ID | 54556 ncbi.nlm.nih.gov/gene/54556 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 617796 |
| HGNC ID | 26099 |
| Aliases | FLJ10324, MGC13170, SIN3A-associated protein, SAP130 |
Description
SINHCAF encodes a component of the SIN3-HDAC transcriptional repression complex. It facilitates the recruitment of histone deacetylases to target promoters, thereby regulating chromatin structure and gene expression. The protein is involved in diverse cellular processes including cell cycle control, differentiation, and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | SINHCAF overexpression may enhance HDAC activity, promoting oncogenic transcriptional silencing | PMID: 25691811 |
| Neurodevelopmental disorders | Mutations in SINHCAF are associated with intellectual disability and autism spectrum disorder | PMID: 31036916 |
| Breast cancer | Altered SINHCAF expression correlates with poor prognosis and may influence estrogen receptor signaling | PMID: 29395067 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 6.4 | Leukemia cells |
| HepG2 | 5.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.1% | Loss of function; associated with neurodevelopmental delay |
| c.1543G>A (p.Gly515Arg) | Missense | <0.1% | Impaired SIN3-HDAC complex assembly |
| c.2020_2021insA (p.Thr674Asnfs*2) | Frameshift | <0.1% | Truncated protein; loss of repressive activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated SINHCAF protein, disrupting SIN3-HDAC complex integrity and transcriptional repression.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SINHCAF.
Dominant Negative (DN)
Missense mutations such as p.Gly515Arg may produce a dominant-negative effect by competing with wild-type SINHCAF for complex binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3244101)
• HDACs deacetylate histones (Reactome: R-HSA-3214815)
• Transcriptional regulation by the SIN3-HDAC complex (KEGG: hsa05202)
Protein Summary
SINHCAF is a 130 kDa protein that localizes to the nucleus and functions as a scaffold within the SIN3-HDAC complex. It directly interacts with SIN3A and HDAC1/2, stabilizing the complex and enhancing its deacetylase activity. The protein contains conserved domains for protein-protein interactions and is essential for proper chromatin remodeling and gene silencing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SINHCAF Knockout HEK293 Cell Line | EDJ-KQ11969 | Human | 58516 | Details Get a Quote |
| SINHCAF Knockout A-549 Cell Line | EDJ-KQ40525 | Human | 58516 | Details Get a Quote |
| SINHCAF Knockout HCT 116 Cell Line | EDJ-KQ40526 | Human | 58516 | Details Get a Quote |
| SINHCAF Knockout HeLa Cell Line | EDJ-KQ40527 | Human | 58516 | Details Get a Quote |
