SUPT20H
Spt20 Homolog, SAGA Complex Component
Gene Information Card
| Symbol | SUPT20H |
|---|---|
| Full Name | Spt20 Homolog, SAGA Complex Component |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.12 |
| NCBI Gene ID | 55578 ncbi.nlm.nih.gov/gene/55578 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q9Y2B0 |
| OMIM ID | 615247 |
| HGNC ID | 1145 |
| Aliases | p38IP, SPT20, SPT20L |
Description
SUPT20H encodes a component of the SAGA (Spt-Ada-Gcn5 acetyltransferase) complex, which is involved in transcriptional regulation through histone acetylation and deubiquitination. The protein is essential for SAGA complex integrity and function, influencing gene expression and chromatin dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Disruption of SAGA complex function affecting gene expression | ClinVar |
| Cancer | Altered expression may contribute to tumorigenesis via transcriptional dysregulation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.100C>T | Nonsense | <0.01% | Truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • histone acetyltransferase complex |
| • chromatin remodeling | • SAGA complex |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by the SAGA complex
Protein Summary
SUPT20H is a 555-amino acid protein that localizes to the nucleus and is a core component of the SAGA complex. It stabilizes the complex and facilitates its role in histone acetylation and deubiquitination, thereby regulating transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUPT20H Knockout HEK293 Cell Line | EDJ-KQ1010 | Human | 55578 | Details Get a Quote |
| SUPT20HL1 Knockout HEK293 Cell Line | EDJ-KQ15568 | Human | 100130302 | Details Get a Quote |
| SUPT20HL2 Knockout HEK293 Cell Line | EDJ-KQ15569 | Human | 170067 | Details Get a Quote |
| SUPT20H Knockout A-549 Cell Line | EDJ-KQ20067 | Human | 55578 | Details Get a Quote |
| SUPT20H Knockout HCT 116 Cell Line | EDJ-KQ20068 | Human | 55578 | Details Get a Quote |
| SUPT20H Knockout HeLa Cell Line | EDJ-KQ20069 | Human | 55578 | Details Get a Quote |
| SUPT20HL2 Knockout HeLa Cell Line | EDJ-KQ58928 | Human | 170067 | Details Get a Quote |
| SUPT20HL1 Knockout HeLa Cell Line | EDJ-KQ60806 | Human | 100130302 | Details Get a Quote |
| SUPT20HL2 Knockout A-549 Cell Line | EDJ-KQ67416 | Human | 170067 | Details Get a Quote |
| SUPT20HL1 Knockout A-549 Cell Line | EDJ-KQ69276 | Human | 100130302 | Details Get a Quote |
| SUPT20HL2 Knockout HCT 116 Cell Line | EDJ-KQ75811 | Human | 170067 | Details Get a Quote |
| SUPT20HL1 Knockout HCT 116 Cell Line | EDJ-KQ77631 | Human | 100130302 | Details Get a Quote |
