SAP30L: A Key Transcriptional Repressor and Chromatin Regulator
Comprehensive gene card for SAP30L (SAP30-like), a component of the Sin3A histone deacetylase complex involved in transcriptional repression and cellular differentiation.
Gene Information Card
| Symbol | SAP30L |
|---|---|
| Full Name | SAP30-like |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.2 |
| NCBI Gene ID | 79685 ncbi.nlm.nih.gov/gene/79685 |
| Ensembl ID | ENSG00000164114 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 611170 |
| HGNC ID | HGNC:16463 |
| Aliases | SAP30L, SAP30-like, Sin3A-associated protein 30-like |
Description
SAP30L (SAP30-like) is a protein-coding gene that encodes a component of the Sin3A histone deacetylase (HDAC) complex. This complex mediates transcriptional repression by deacetylating histones and recruiting additional repressive factors. SAP30L shares homology with SAP30 and is involved in chromatin remodeling, cell cycle regulation, and differentiation. It is expressed in multiple tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of SAP30L may disrupt Sin3A complex function, leading to aberrant gene silencing or activation, contributing to tumorigenesis. | COSMIC database reports somatic mutations in SAP30L across multiple cancer types; ClinVar lists variants of uncertain significance. |
| Developmental disorders | Potential role in transcriptional regulation during embryogenesis; mutations may affect differentiation pathways. | Limited evidence; inferred from functional studies of Sin3A complex components. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells; moderate expression |
| HeLa | 7.8 | Cervical cancer cells; low expression |
| K562 | 6.5 | Leukemia cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; effect unknown |
| c.200C>T (p.Pro67Leu) | Missense | Rare | Substitution in conserved region; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sin3A/HDAC complex-mediated transcriptional repression
• Chromatin remodeling
Protein Summary
The SAP30L protein (UniProt Q9H0H5) is 220 amino acids long and contains a conserved SAP30 domain. It localizes to the nucleus and interacts with components of the Sin3A HDAC complex, including SIN3A and HDAC1. SAP30L enhances the repressive activity of the complex by facilitating histone deacetylation and chromatin compaction. It is involved in regulating gene expression during development and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAP30L Knockout HEK293 Cell Line | EDJ-KQ15166 | Human | 79685 | 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 |
