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    EAPP E2F associated phosphoprotein [ Homo sapiens (human) ]

    Gene ID: 55837, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See EAPP in Genome Data Viewer
    Location:
    14q13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (34515938..34539701, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (28714697..28738456, complement)
    RS_2024_09 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 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 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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