EP400 E1A binding protein p400 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EP400provided by HGNC
Official Full Name: E1A binding protein p400provided by HGNC
Primary source: HGNC:HGNC:11958
See related: Ensembl:ENSG00000183495 MIM:606265; AllianceGenome:HGNC:11958
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P400; CAGH32; TNRC12
Summary: Predicted to enable chromatin binding activity. Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Part of NuA4 histone acetyltransferase complex; Swr1 complex; and nucleosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 8.1), ovary (RPKM 5.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.33

Exon count:: 53

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (131949942..132080460)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (131997993..132129300)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (132434487..132565005)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TIP60/P400/H4K12ac Plays a Role as a Heterochromatin Back-up Skeleton in Breast Cancer.
Title: TIP60/P400/H4K12ac Plays a Role as a Heterochromatin Back-up Skeleton in Breast Cancer.
Taken together, the findings suggest that a protein-protein interaction between ATM and p400 ATPase occurs independently of DNA damage and contributes to efficient DNA damage response and repair.
Title: Ataxia telangiectasia mutated (ATM) interacts with p400 ATPase for an efficient DNA damage response.
All together these results show that p400 acts as a brake to prevent alternative End Joining-dependent genetic instability and underline its potential value as a clinical marker.
Title: Control of alternative end joining by the chromatin remodeler p400 ATPase.
EP400 deposits H3.3 into chromatin alongside H2AZ and contributes to gene regulation after Pol II pre-initiation complex assembly.
Title: EP400 Deposits H3.3 into Promoters and Enhancers during Gene Activation.
Data indicate that three genes, namely Chemokine (C-X-C motif) receptor 2 (CXCR2), C-C chemokine receptor type 2 (CCR2) and E1A-Binding Protein P400 (EP400), were able to identify HCC individually with accuracies of 82.4%, 78.4% and 65%, respectively.
Title: A blood-based three-gene signature for the non-invasive detection of early human hepatocellular carcinoma.
Our data suggest that the highly proliferative, decreased-p400 subgroup of renal cell carcinomas represents tumors that are characterized by a loss of the tumor-suppressive mechanism of senescence.
Title: Senescence-associated protein p400 is a prognostic marker in renal cell carcinoma.
age-dependent p400 downregulation and loss of H2A.Z localisation may contribute to the onset of replicative senescence through a sustained high rate of p21 transcription
Title: Decrease of p400 ATPase complex and loss of H2A.Z within the p21 promoter occur in senescent IMR-90 human fibroblasts.
The p400 ATPase is required for DNA repair by homologous recombination.
Title: The chromatin remodeler p400 ATPase facilitates Rad51-mediated repair of DNA double-strand breaks.
incorporation of the histone variant H2A.Z at the promoter regions of PPARgamma target genes by p400/Brd8 is essential to allow fat cell differentiation
Title: The p400/Brd8 chromatin remodeling complex promotes adipogenesis by incorporating histone variant H2A.Z at PPARγ target genes.
p400 is a novel DNA damage response protein and p400-mediated alterations in nucleosome and chromatin structure promote both chromatin ubiquitination and the accumulation of brca1 and 53BP1 at sites of DNA damage.
Title: The p400 ATPase regulates nucleosome stability and chromatin ubiquitination during DNA repair.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The core of the p400/TRRAP complex, consists of BAF53A, P400, RUVBL1, RUVBL2, TRRAP, are identified to interact with HIV-1 Tat in Jurkat cell	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44488 (e-PCR)
- UniSTS:7173

RH77857 (e-PCR)
- UniSTS:47647

A008Y05 (e-PCR)
- UniSTS:6749

SHGC-75101 (e-PCR)
- UniSTS:52099

RH11166 (e-PCR)
- UniSTS:82336

D1S3696 (e-PCR)
- UniSTS:474274

D12S2111 (e-PCR)
- UniSTS:28622

G19868 (e-PCR)
- UniSTS:41190

A002A44 (e-PCR)
- UniSTS:41191

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent chromatin remodeler activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein antigen binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NuA4 histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Swr1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Swr1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E1A-binding protein p400

Names: CAG repeat protein 32; domino homolog; hDomino; hDomino(p400); p400 SWI2/SNF2-related protein; p400 kDa SWI2/SNF2-related protein; trinucleotide repeat containing 12; trinucleotide repeat-containing gene 12 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015409.5 → NP_056224.3 E1A-binding protein p400

Status: VALIDATED

Source sequence(s)

AC131009, AC137590, AC137632

Consensus CDS

CCDS31929.2

UniProtKB/Swiss-Prot

O15411, Q6P2F5, Q8N8Q7, Q8NE05, Q96JK7, Q96L91, Q9P230

Related

ENSP00000374212.2, ENST00000389561.7

Conserved Domains (5) summary

smart00573
Location:764 → 835

HSA; domain in helicases and associated with SANT domains

cd00046
Location:1075 → 1210

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

pfam00176
Location:1058 → 1338

SNF2_N; SNF2 family N-terminal domain

pfam00271
Location:1861 → 1977

Helicase_C; Helicase conserved C-terminal domain

pfam15790
Location:1 → 469

EP400_N; E1A-binding protein p400, N-terminal