SUPT7L
SPT7-like, STAGA complex subunit gamma
Gene Information Card
| Symbol | SUPT7L |
|---|---|
| Full Name | SPT7-like, STAGA complex subunit gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 84677 ncbi.nlm.nih.gov/gene/84677 |
| Ensembl ID | ENSG00000115163 |
| UniProt ID | Q9Y2W1 |
| OMIM ID | 612014 |
| HGNC ID | 11462 |
| Aliases | STAF65(gamma), SPT7L, STAF65G |
Description
SUPT7L encodes a subunit of the STAGA (SPT3-TAF9-GCN5 acetyltransferase) complex, which is involved in chromatin remodeling and transcriptional activation. The protein contains a SPT7 domain and is essential for complex integrity and histone acetyltransferase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of STAGA complex may alter gene expression programs promoting oncogenesis. | COSMIC; literature |
| Neurodevelopmental disorders | Potential role via transcriptional dysregulation; limited direct evidence. | OMIM; literature |
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 |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
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; potential impact on STAGA complex |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and loss of STAGA complex integrity.
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 | • nucleus |
| • protein binding |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by the STAGA complex
Protein Summary
SUPT7L is a 65 kDa protein that localizes to the nucleus and is a stable component of the STAGA complex. It is required for the complex's histone acetyltransferase activity and plays a role in transcriptional activation of specific genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUPT7L Knockout HEK293 Cell Line | EDJ-KQ6162 | Human | 9913 | Details Get a Quote |
| SUPT7L Knockout A-549 Cell Line | EDJ-KQ31333 | Human | 9913 | Details Get a Quote |
| SUPT7L Knockout HCT 116 Cell Line | EDJ-KQ31335 | Human | 9913 | Details Get a Quote |
| SUPT7L Knockout HeLa Cell Line | EDJ-KQ31336 | Human | 9913 | Details Get a Quote |