EP400: E1A Binding Protein p400
Chromatin Remodeler and Transcriptional Regulator
Gene Information Card
| Symbol | EP400 |
|---|---|
| Full Name | E1A Binding Protein p400 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 57634 ncbi.nlm.nih.gov/gene/57634 |
| Ensembl ID | ENSG00000131844 |
| UniProt ID | Q96L91 |
| OMIM ID | 606265 |
| HGNC ID | 13234 |
| Aliases | p400, E1A-binding protein p400, TNRC9, KIAA1498 |
Description
EP400 encodes a chromatin remodeling factor that is a component of the NuA4 histone acetyltransferase complex. It binds to the adenovirus E1A protein and is involved in transcriptional regulation, DNA repair, and cell cycle control. The protein has ATPase and helicase activities and interacts with histones and transcription factors to modulate chromatin structure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered chromatin remodeling and transcriptional regulation | COSMIC; PMID: 23583978 |
| Neurodevelopmental disorders | Disruption of NuA4 complex function | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney |
| HeLa | 9.5 | Cervical carcinoma |
| K562 | 7.8 | Leukemia |
| A549 | 6.2 | Lung carcinoma |
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 |
| c.4567G>A (p.Glu1523Lys) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may alter chromatin binding.
Dominant Negative (DN)
Possible for mutations affecting ATPase domain that disrupt complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • helicase activity (GO:0004386) | • ATP binding (GO:0005524) |
| • chromatin remodeling (GO:0006338) | • transcription, DNA-templated (GO:0006351) |
| • chromatin binding (GO:0003682) | • DNA repair (GO:0006281) |
Pathways
• NuA4 histone acetyltransferase complex
• p53 signaling pathway
• DNA double-strand break repair
• Transcriptional regulation by E2F
Protein Summary
EP400 is a 3058-amino acid protein with an N-terminal helicase/ATPase domain and a C-terminal SANT domain. It functions as a chromatin remodeler within the NuA4 complex, acetylating histones H4 and H2A to promote open chromatin. It also interacts with p53 and E2F to regulate transcription and is involved in DNA repair via homologous recombination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EP400 Knockout HEK293 Cell Line | EDJ-KQ51583 | Human | 57634 | Details Get a Quote |
| EP400 Knockout HeLa Cell Line | EDJ-KQ56890 | Human | 57634 | Details Get a Quote |
| EP400 Knockout A-549 Cell Line | EDJ-KQ65403 | Human | 57634 | Details Get a Quote |
| EP400 Knockout HCT 116 Cell Line | EDJ-KQ73840 | Human | 57634 | Details Get a Quote |
