SUPT3H
SPT3 homolog, SAGA complex component
Gene Information Card
| Symbol | SUPT3H |
|---|---|
| Full Name | SPT3 homolog, SAGA complex component |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 8464 ncbi.nlm.nih.gov/gene/8464 |
| Ensembl ID | ENSG00000111816 |
| UniProt ID | O75494 |
| OMIM ID | 602947 |
| HGNC ID | 11466 |
| Aliases | SPT3, SPT3L, SAGA complex component SPT3 |
Description
SUPT3H encodes a protein that is a core component of the SAGA (Spt-Ada-Gcn5 acetyltransferase) complex, a transcriptional coactivator complex involved in chromatin remodeling and histone acetylation. The SPT3 subunit is essential for the structural integrity of the SAGA complex and for its interaction with TATA-binding protein (TBP), facilitating transcription initiation by RNA polymerase II.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | SUPT3H is part of the SAGA complex; alterations may affect expression of tumor suppressor genes or oncogenes via chromatin remodeling. | COSMIC database reports somatic mutations in colorectal cancer samples. |
| Melanoma | Mutations in SUPT3H may disrupt SAGA complex function, altering transcription of genes involved in cell proliferation and differentiation. | COSMIC lists mutations in melanoma cell lines. |
| Lung cancer | Somatic mutations in SUPT3H have been identified, potentially affecting transcriptional regulation of growth-related genes. | COSMIC database. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.2 | Low |
| Colon | 5.1 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
| HCT116 | 6.8 | Colorectal cancer cell line |
| HEK293 | 9.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1024G>A (p.Glu342Lys) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1315_1316insA (p.Thr439Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr439Asnfs*2) likely result in truncated protein and loss of SAGA complex function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in SUPT3H.
Dominant Negative (DN)
No evidence of dominant-negative mutations in SUPT3H.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3244102)
• RNA Polymerase II Transcription (Reactome: R-HSA-73857)
• Transcriptional regulation by the SAGA complex (Reactome: R-HSA-3214847)
Protein Summary
SUPT3H encodes the SPT3 subunit of the SAGA complex, a multiprotein coactivator that regulates transcription through histone acetylation and deubiquitination. SPT3 directly interacts with TATA-binding protein (TBP) to facilitate transcription initiation. The protein is ubiquitously expressed, with highest levels in testis. Mutations in SUPT3H are rare but have been reported in various cancers, potentially disrupting SAGA complex integrity and transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUPT3H Knockout HEK293 Cell Line | EDJ-KQ6246 | Human | 8464 | Details Get a Quote |
| SUPT3H Knockout HCT 116 Cell Line | EDJ-KQ30104 | Human | 8464 | Details Get a Quote |
| SUPT3H Knockout HeLa Cell Line | EDJ-KQ30105 | Human | 8464 | Details Get a Quote |
| SUPT3H Knockout A-549 Cell Line | EDJ-KQ28800 | Human | 8464 | Details Get a Quote |
