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Aliases for EP400 Gene

Aliases for EP400 Gene

  • E1A Binding Protein P400 2 3 5
  • Trinucleotide Repeat-Containing Gene 12 Protein 3 4
  • Trinucleotide Repeat Containing 12 2 3
  • P400 KDa SWI2/SNF2-Related Protein 3 4
  • CAG Repeat Protein 32 3 4
  • Domino Homolog 3 4
  • HDomino 3 4
  • TNRC12 3 4
  • CAGH32 3 4
  • P400 SWI2/SNF2-Related Protein 3
  • E1A-Binding Protein P400 3
  • EC 3.6.4.- 4
  • KIAA1498 4
  • KIAA1818 4
  • P400 3

External Ids for EP400 Gene

Previous HGNC Symbols for EP400 Gene

  • TNRC12

Previous GeneCards Identifiers for EP400 Gene

  • GC12U990164
  • GC12P132315
  • GC12P130928
  • GC12P131111
  • GC12P131000
  • GC12P132434
  • GC12P129320

Summaries for EP400 Gene

GeneCards Summary for EP400 Gene

EP400 (E1A Binding Protein P400) is a Protein Coding gene. Diseases associated with EP400 include Ossifying Fibromyxoid Tumor. Among its related pathways are DNA Damage/Telomere Stress Induced Senescence and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is SRCAP.

UniProtKB/Swiss-Prot for EP400 Gene

  • Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. May be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. May regulate ZNF42 transcription activity. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.

Gene Wiki entry for EP400 Gene

Additional gene information for EP400 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EP400 Gene

Genomics for EP400 Gene

GeneHancer (GH) Regulatory Elements for EP400 Gene

Promoters and enhancers for EP400 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J131948 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 678.8 +0.0 36 3.2 PKNOX1 ARID4B SIN3A ZNF766 ZNF207 ZNF143 FOS SP3 SP5 REST EP400 NOC4L ANKLE2 DDX51 SFSWAP ENSG00000255933 POLE RPS11P5 GOLGA3 EP400P1
GH12J132064 Promoter 0.6 EPDnew 650.1 +114.9 114949 0.1 EBF1 EP400 SNORA49 ENSG00000257000
GH12J132597 Enhancer 1.2 Ensembl ENCODE 187.9 +648.4 648394 1.8 HDGF ARNT YBX1 ZNF2 YY1 ZNF143 ZNF548 SP3 ZNF662 REST ZNF140 EP400 ZNF84 ZNF268 ZNF891 ZNF26 GOLGA3 ZNF605 ANKLE2 DDX51
GH12J132827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 67.3 +878.6 878563 2.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 GOLGA3 ANKLE2 ZNF140 ZNF26 EP400 NOC4L CHFR ZNF891 POLE ZNF268
GH12J131927 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 69 -20.7 -20697 3.3 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF207 PUS1 ENSG00000255992 EP400 GOLGA3 EP400P1 NOC4L ANKLE2 SFSWAP DDX51 POLE
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EP400 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EP400 gene promoter:
  • Tal-1beta
  • E47
  • Pax-3
  • HNF-4alpha2
  • HNF-4alpha1
  • c-Ets-1
  • STAT5A
  • HTF
  • CUTL1
  • XBP-1

Genomic Locations for EP400 Gene

Genomic Locations for EP400 Gene
chr12:131,949,920-132,081,102
(GRCh38/hg38)
Size:
131,183 bases
Orientation:
Plus strand
chr12:132,434,465-132,565,011
(GRCh37/hg19)
Size:
130,547 bases
Orientation:
Plus strand

Genomic View for EP400 Gene

Genes around EP400 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EP400 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EP400 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EP400 Gene

Proteins for EP400 Gene

  • Protein details for EP400 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L91-EP400_HUMAN
    Recommended name:
    E1A-binding protein p400
    Protein Accession:
    Q96L91
    Secondary Accessions:
    • O15411
    • Q6P2F5
    • Q8N8Q7
    • Q8NE05
    • Q96JK7
    • Q9P230

    Protein attributes for EP400 Gene

    Size:
    3159 amino acids
    Molecular mass:
    343489 Da
    Quaternary structure:
    • Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. May also participate in the formation of NuA4 related complexes which lack the KAT5/TIP60 catalytic subunit, but which include the SWI/SNF related protein SRCAP. The NuA4 complex interacts with MYC and the adenovirus E1A protein. EP400 interacts with TRRAP, RUVBL1 and RUVBL2. Component of a SWR1-like complex. Interacts with ZNF42. Interacts with PHF5A. Interacts with human cytomegalovirus UL27. Interacts with human adenovirus 5 E1A protein; this interaction stabilizes MYC (PubMed:18413597).
    SequenceCaution:
    • Sequence=AAB91441.1; Type=Frameshift; Positions=2959, 3020; Evidence={ECO:0000305}; Sequence=AAH37208.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAH64554.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA96022.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for EP400 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EP400 Gene

Post-translational modifications for EP400 Gene

  • Ubiquitination at isoforms=2, 3, 4, 52202, Lys1291, and isoforms=2, 3, 4, 51096
  • Modification sites at PhosphoSitePlus

Other Protein References for EP400 Gene

No data available for DME Specific Peptides for EP400 Gene

Domains & Families for EP400 Gene

Gene Families for EP400 Gene

Suggested Antigen Peptide Sequences for EP400 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96L91

UniProtKB/Swiss-Prot:

EP400_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily.
Family:
  • Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily.
genes like me logo Genes that share domains with EP400: view

Function for EP400 Gene

Molecular function for EP400 Gene

UniProtKB/Swiss-Prot Function:
Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. May be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. May regulate ZNF42 transcription activity. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.

Enzyme Numbers (IUBMB) for EP400 Gene

Phenotypes From GWAS Catalog for EP400 Gene

Gene Ontology (GO) - Molecular Function for EP400 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 17314511
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with EP400: view
genes like me logo Genes that share phenotypes with EP400: view

Animal Models for EP400 Gene

MGI Knock Outs for EP400:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EP400 Gene

Localization for EP400 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EP400 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EP400 gene
Compartment Confidence
nucleus 5
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EP400 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000812 Swr1 complex IDA 24463511
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck ISS --
GO:0035267 NuA4 histone acetyltransferase complex IDA 14966270
genes like me logo Genes that share ontologies with EP400: view

Pathways & Interactions for EP400 Gene

genes like me logo Genes that share pathways with EP400: view

Gene Ontology (GO) - Biological Process for EP400 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0043967 histone H4 acetylation IDA 14966270
GO:0043968 histone H2A acetylation IDA 14966270
genes like me logo Genes that share ontologies with EP400: view

No data available for SIGNOR curated interactions for EP400 Gene

Drugs & Compounds for EP400 Gene

No Compound Related Data Available

Transcripts for EP400 Gene

mRNA/cDNA for EP400 Gene

(1) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(333) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EP400 Gene

E1A binding protein p400:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EP400 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41a · 41b ·
SP1: -
SP2:
SP3: - -
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 41c ^ 42 ^ 43a · 43b ^ 44a · 44b · 44c ^ 45a · 45b · 45c
SP1:
SP2:
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15: -
SP16:

Relevant External Links for EP400 Gene

GeneLoc Exon Structure for
EP400
ECgene alternative splicing isoforms for
EP400

Expression for EP400 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EP400 Gene

Protein differential expression in normal tissues from HIPED for EP400 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1), CD8 Tcells (10.2), Lymph node (9.3), Blymphocyte (9.2), and Placenta (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EP400 Gene



Protein tissue co-expression partners for EP400 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EP400 Gene:

EP400

SOURCE GeneReport for Unigene cluster for EP400 Gene:

Hs.723478

mRNA Expression by UniProt/SwissProt for EP400 Gene:

Q96L91-EP400_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for EP400 Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with EP400: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EP400 Gene

Orthologs for EP400 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EP400 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EP400 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EP400 34 33
  • 82.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ep400 33
  • 82.52 (n)
mouse
(Mus musculus)
Mammalia Ep400 16 34 33
  • 82.21 (n)
dog
(Canis familiaris)
Mammalia EP400 34 33
  • 80.9 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 79 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia EP400 34
  • 37 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857793 33
  • 69.88 (n)
EP400 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EP400 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ep400 33
  • 63.95 (n)
Str.11174 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-227i14.2 33
  • 60.71 (n)
EP400 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dom 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ssl-1 34
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWR1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for EP400 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EP400 Gene

ENSEMBL:
Gene Tree for EP400 (if available)
TreeFam:
Gene Tree for EP400 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EP400: view image

Paralogs for EP400 Gene

Paralogs for EP400 Gene

(1) SIMAP similar genes for EP400 Gene using alignment to 2 proteins:

  • EP400_HUMAN
  • A7E2D7_HUMAN
genes like me logo Genes that share paralogs with EP400: view

Variants for EP400 Gene

Sequence variations from dbSNP and Humsavar for EP400 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000030149 -- 131,950,962(+) C/A intron_variant
rs1000068485 -- 132,000,240(+) T/A intron_variant
rs1000089825 -- 132,038,373(+) G/C intron_variant
rs1000100705 -- 132,066,399(+) G/A intron_variant
rs1000118723 -- 132,079,920(+) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for EP400 Gene

Variant ID Type Subtype PubMed ID
esv1602214 CNV insertion 17803354
esv2512701 CNV insertion 19546169
esv2746909 CNV deletion 23290073
esv2746910 CNV deletion 23290073
esv2751042 CNV gain 17911159
esv3631282 CNV gain 21293372
esv3631283 CNV gain 21293372
esv3631284 CNV gain 21293372
esv7722 CNV gain 19470904
nsv1041402 CNV gain 25217958
nsv1143717 CNV deletion 24896259
nsv428285 CNV gain 18775914
nsv476750 CNV novel sequence insertion 20440878
nsv560928 CNV gain 21841781
nsv560930 CNV loss 21841781

Variation tolerance for EP400 Gene

Residual Variation Intolerance Score: 1.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.55; 95.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EP400 Gene

Human Gene Mutation Database (HGMD)
EP400
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EP400

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EP400 Gene

Disorders for EP400 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EP400 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
ossifying fibromyxoid tumor
  • ossifying fibromyxoma
- elite association - COSMIC cancer census association via MalaCards
Search EP400 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EP400

genes like me logo Genes that share disorders with EP400: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EP400 Gene

Publications for EP400 Gene

  1. The p400 complex is an essential E1A transformation target. (PMID: 11509179) Fuchs M … Livingston DM (Cell 2001) 2 3 4 22 58
  2. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis RL … Ross CA (Human genetics 1997) 2 3 4 58
  3. ANP32E is a histone chaperone that removes H2A.Z from chromatin. (PMID: 24463511) Obri A … Hamiche A (Nature 2014) 3 4 58
  4. Antiviral inhibition targeting the HCMV kinase pUL97 requires pUL27-dependent degradation of Tip60 acetyltransferase and cell-cycle arrest. (PMID: 21320693) Reitsma JM … Terhune SS (Cell host & microbe 2011) 3 4 58
  5. The p400/Tip60 ratio is critical for colorectal cancer cell proliferation through DNA damage response pathways. (PMID: 19169279) Mattera L … Trouche D (Oncogene 2009) 3 22 58

Products for EP400 Gene

Sources for EP400 Gene

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