SUB1 (SUB1 Regulator of Transcription)
A multifunctional protein involved in transcription regulation, DNA repair, and RNA processing.
Gene Information Card
| Symbol | SUB1 |
|---|---|
| Full Name | SUB1 Regulator of Transcription |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.3 |
| NCBI Gene ID | 10923 ncbi.nlm.nih.gov/gene/10923 |
| Ensembl ID | ENSG00000113369 |
| UniProt ID | P53999 |
| OMIM ID | 600284 |
| HGNC ID | 11425 |
| Aliases | PC4, p14, RPO2TC1, SUB1 homolog (S. cerevisiae) |
Description
The SUB1 gene encodes a highly conserved nuclear protein that functions as a positive and negative regulator of transcription. It interacts with RNA polymerase II and transcription factors, and also participates in DNA repair, RNA splicing, and chromatin remodeling. SUB1 is ubiquitously expressed and its dysregulation is implicated in several cancers and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SUB1 enhances transcription of oncogenes and promotes cell proliferation | PMID: 25609832 |
| Colorectal cancer | SUB1 upregulation correlates with poor prognosis and increased metastasis | PMID: 27641628 |
| Alzheimer's disease | SUB1 interacts with tau protein and may influence neurodegeneration | PMID: 29100055 |
| Huntington's disease | SUB1 levels are altered in striatal cells, affecting transcriptional dysregulation | PMID: 23562821 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.7 | Medium |
| Lung | 10.2 | Medium |
| Kidney | 9.8 | Low |
| Testis | 18.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.5 | Medium expression |
| MCF7 | 16.8 | High expression |
| HepG2 | 9.1 | Low expression |
| SH-SY5Y | 13.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.214C>T (p.Arg72Cys) | Missense | 0.02% | Altered DNA-binding affinity |
| c.347G>A (p.Arg116Gln) | Missense | 0.01% | Reduced transcriptional activation |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or critical DNA-binding residues reduce SUB1 activity, impairing transcription and DNA repair.
Gain of Function (GOF)
Overexpression or activating mutations (e.g., in promoter regions) can enhance oncogenic transcription programs.
Dominant Negative (DN)
Truncated or misfolded SUB1 variants may interfere with wild-type protein function, disrupting normal transcription regulation.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • transcription coregulator activity (GO:0003712) |
| • nucleus (GO:0005634) | • DNA repair (GO:0006281) |
| • regulation of transcription (GO:0006355) | • mRNA processing (GO:0006397) |
Pathways
• RNA polymerase II transcription
• DNA damage response
• mRNA splicing
Protein Summary
SUB1 (also known as PC4) is a 127-amino acid nuclear protein with a conserved DNA-binding domain and a serine-rich C-terminal region. It acts as a cofactor for RNA polymerase II, facilitating transcription initiation and elongation. Additionally, SUB1 participates in nucleotide excision repair and RNA splicing. Its expression is tightly regulated, and alterations in SUB1 levels or function contribute to cancer progression and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUB1 Knockout Huh-7 Cell Line | EDJ-KQ43 | Human | 10923 | Details Get a Quote |
| SUB1 Knockout HEK293 Cell Line | EDJ-KQ51021 | Human | 10923 | Details Get a Quote |
| SUB1 Knockout HeLa Cell Line | EDJ-KQ55529 | Human | 10923 | Details Get a Quote |
| SUB1 Knockout A-549 Cell Line | EDJ-KQ64019 | Human | 10923 | Details Get a Quote |
| SUB1 Knockout HCT 116 Cell Line | EDJ-KQ72470 | Human | 10923 | Details Get a Quote |
