SUPT6H: SPT6 Homolog, Histone Chaperone and Transcription Elongation Factor
A key regulator of transcription elongation, chromatin structure, and mRNA processing; implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | SUPT6H |
|---|---|
| Full Name | SPT6 Homolog, Histone Chaperone and Transcription Elongation Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 6830 ncbi.nlm.nih.gov/gene/6830 |
| Ensembl ID | ENSG00000109111 |
| UniProt ID | Q7KZ85 |
| OMIM ID | 601333 |
| HGNC ID | 11470 |
| Aliases | SPT6, SPT6H, emb-5, hSPT6 |
Description
SUPT6H encodes a highly conserved transcription elongation factor that functions as a histone chaperone, facilitating RNA polymerase II elongation through chromatin by reassembling nucleosomes after transcription. It also plays roles in mRNA export, DNA repair, and maintenance of genome stability. The protein interacts with the PAF1 complex and is essential for embryonic development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | SUPT6H mutations may impair transcription elongation and chromatin regulation, promoting genomic instability and tumorigenesis. | COSMIC; PMID: 26689913 |
| Breast cancer | Altered SUPT6H expression correlates with poor prognosis; loss of function may disrupt estrogen receptor signaling. | PMID: 28991257; COSMIC |
| Neurodevelopmental disorders | De novo missense variants in SUPT6H have been reported in patients with intellectual disability and autism spectrum disorder. | ClinVar; PMID: 31064749 |
| Acute myeloid leukemia | SUPT6H fusions (e.g., with NUP98) are recurrent in AML, driving aberrant transcription. | COSMIC; PMID: 28218240 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Brain | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Liver | 6.8 | Medium |
| Lung | 5.9 | Medium |
| Kidney | 5.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 9.8 | High expression |
| K562 | 8.5 | Medium expression |
| HepG2 | 7.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2146C>T (p.Arg716Trp) | Missense | <0.01% | Reported in neurodevelopmental disorder; likely loss of function (ClinVar) |
| c.1234_1235insA (p.Thr412Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; associated with colorectal cancer (COSMIC) |
| NUP98-SUPT6H fusion | Gene fusion | Rare in AML | Oncogenic; drives aberrant transcription (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the histone chaperone domain are classified as loss-of-function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported; fusions may confer neomorphic activity.
Dominant Negative (DN)
Missense variants in the SH2 domain may act as dominant-negative by interfering with wild-type SUPT6H function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription elongation (Reactome: R-HSA-75955)
• Chromatin modifying enzymes (Reactome: R-HSA-3247509)
• PAF1 complex (Reactome: R-HSA-212300)
Protein Summary
SUPT6H is a 1726-amino acid protein containing an SH2 domain, a central region that binds RNA polymerase II, and a C-terminal histone chaperone domain. It associates with the PAF1 complex and FACT complex to promote transcription elongation and nucleosome reassembly. The protein is ubiquitously expressed and essential for cell viability.
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