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.

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 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
Contact Us
*
*
*
How did you hear about us: