SUPT16H: SPT16 Homolog, Facilitates Chromatin Remodeling
A key component of the FACT complex involved in transcription elongation and DNA repair
Gene Information Card
| Symbol | SUPT16H |
|---|---|
| Full Name | SPT16 Homolog, Facilitates Chromatin Remodeling |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 11198 ncbi.nlm.nih.gov/gene/11198 |
| Ensembl ID | ENSG00000100888 |
| UniProt ID | Q9Y5B9 |
| OMIM ID | 605012 |
| HGNC ID | 11465 |
| Aliases | FACT140, SPT16, CDC68 |
Description
SUPT16H encodes the SPT16 subunit of the FACT (facilitates chromatin transcription) complex, which is essential for transcription elongation through nucleosomes by destabilizing histone-DNA interactions. The protein also participates in DNA replication, repair, and mRNA processing. It is highly conserved across eukaryotes and is critical for cell viability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | SUPT16H mutations impair FACT complex function, leading to genomic instability and altered transcription of oncogenes/tumor suppressors | COSMIC, ClinVar |
| Breast cancer | Overexpression of SUPT16H correlates with poor prognosis; FACT complex promotes proliferation and metastasis | NCBI Gene, PubMed |
| Neurodevelopmental disorders | De novo missense variants in SUPT16H associated with intellectual disability and microcephaly | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 25.1 | Medium |
| Brain | 12.4 | Medium |
| Liver | 8.7 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 42.5 | Cervical cancer cell line |
| K562 | 35.8 | Leukemia cell line |
| HEK293 | 30.2 | Embryonic kidney cell line |
| HepG2 | 28.1 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg509His | Missense | 0.02% (COSMIC) | Alters FACT complex stability; associated with colorectal cancer |
| p.Glu471Lys | Missense | 0.01% (ClinVar) | Likely pathogenic in neurodevelopmental disorder |
| p.Leu614Pro | Missense | <0.01% (COSMIC) | Loss of function; observed in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the dimerization domain reduce FACT complex assembly and chromatin remodeling activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancers may confer proliferative advantage.
Dominant Negative (DN)
Some mutations (e.g., p.Arg509His) may interfere with wild-type SPT16 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FACT complex pathway (Reactome: R-HSA-5696398)
• RNA polymerase II transcription elongation (Reactome: R-HSA-75955)
• Chromatin modifying enzymes (KEGG: hsa05203)
Protein Summary
SUPT16H encodes a 1047-amino acid protein (SPT16) that forms the FACT complex with SSRP1. SPT16 contains a peptidase-like domain and a dimerization domain, mediating histone H2A/H2B binding and nucleosome reorganization. The protein is essential for transcription elongation, DNA replication, and repair. Post-translational modifications include phosphorylation and acetylation, regulating its activity and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUPT16H Knockout HEK293 Cell Line | EDJ-KQ51053 | Human | 11198 | Details Get a Quote |
| SUPT16H Knockout HeLa Cell Line | EDJ-KQ55601 | Human | 11198 | Details Get a Quote |
| SUPT16H Knockout A-549 Cell Line | EDJ-KQ64097 | Human | 11198 | Details Get a Quote |
| SUPT16H Knockout HCT 116 Cell Line | EDJ-KQ72547 | Human | 11198 | Details Get a Quote |
