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EAPP E2F associated phosphoprotein [ Homo sapiens (human) ]

Gene ID: 55837, updated on 5-Mar-2024

Summary

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Official Symbol
EAPPprovided by HGNC
Official Full Name
E2F associated phosphoproteinprovided by HGNC
Primary source
HGNC:HGNC:19312
See related
Ensembl:ENSG00000129518 MIM:609486; AllianceGenome:HGNC:19312
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BM036; C14orf11
Summary
This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in bone marrow (RPKM 22.0), colon (RPKM 18.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (34515938..34539701, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (28714697..28738456, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (34985144..35008907, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serine palmitoyltransferase small subunit A Neighboring gene Sharpr-MPRA regulatory region 3929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:34927797-34928298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:34931309-34932259 Neighboring gene ribosomal protein L23a pseudogene 71 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:34964993-34965682 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:34965742-34966941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5664 Neighboring gene Sharpr-MPRA regulatory region 9667 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35008110-35009034 Neighboring gene uncharacterized LOC105370447 Neighboring gene uncharacterized LOC112268123 Neighboring gene uncharacterized LOC105370449 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35015659-35016230 Neighboring gene RNA, U1 small nuclear 27, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. EAPP: gatekeeper at the crossroad of apoptosis and p21-mediated cell-cycle arrest. Andorfer P, et al. Oncogene, 2011 Jun 9. PMID 21258403, Free PMC Article
  2. Regulation of the E2F-associated phosphoprotein promoter by GC-box binding proteins. Schwarzmayr L, et al. Int J Biochem Cell Biol, 2008. PMID 18588995
  3. Regulation of the MDR1 promoter by E2F1 and EAPP. Andorfer P, et al. FEBS Lett, 2013 May 21. PMID 23542036
  4. Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Kamnasaran D, et al. Genomics, 2005 May. PMID 15820313
  5. EAPP, a novel E2F binding protein that modulates E2F-dependent transcription. Novy M, et al. Mol Biol Cell, 2005 May. PMID 15716352, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Independently of EAPP, E2F1 also increases the activity of the MDR1 promoter.
    Title: Regulation of the MDR1 promoter by E2F1 and EAPP.
  2. results indicate that the level of EAPP is critical for cellular homeostasis
    Title: EAPP: gatekeeper at the crossroad of apoptosis and p21-mediated cell-cycle arrest.
  3. Regulation of the EAPP promoter by GC-box binding proteins is reported.
    Title: Regulation of the E2F-associated phosphoprotein promoter by GC-box binding proteins.
  4. EAPP modulates E2F-regulated transcription, stimulates proliferation, and may be involved in the malignant transformation of cells.
    Title: EAPP, a novel E2F binding protein that modulates E2F-dependent transcription.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC4957, FLJ20578

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within negative regulation of transcription elongation by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of transcription elongation by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
E2F-associated phosphoprotein

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)

  1. NM_001318916.2 → NP_001305845.1  E2F-associated phosphoprotein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL445363, AV757492, BC001245, BU662131
    UniProtKB/Swiss-Prot
    Q56P03

  2. NM_018453.4 → NP_060923.2  E2F-associated phosphoprotein isoform 1

    See identical proteins and their annotated locations for NP_060923.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL445363, BC001245
    Consensus CDS
    CCDS41941.1
    UniProtKB/Swiss-Prot
    Q56P03, Q9BVF4, Q9NWV5, Q9NZ86
    Related
    ENSP00000250454.3, ENST00000250454.8
    Conserved Domains (1) summary
    pfam10238
    Location:138 → 282
    Eapp_C; E2F-associated phosphoprotein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    34515938..34539701 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    28714697..28738456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q56P03.4 GenPept UniProtKB/Swiss-Prot:Q56P03

Gene LinkOut

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