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    EAPP E2F associated phosphoprotein [ Homo sapiens (human) ]

    Gene ID: 55837, updated on 4-Jun-2017
    Official Symbol
    EAPPprovided by HGNC
    Official Full Name
    E2F associated phosphoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:19312
    See related
    Ensembl:ENSG00000129518 MIM:609486; Vega:OTTHUMG00000170621
    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]
    Orthologs
    Location:
    14q13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (34515929..34539737, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (34985135..35008943, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serine palmitoyltransferase small subunit A Neighboring gene ribosomal protein L23a pseudogene 71 Neighboring gene uncharacterized LOC105370447 Neighboring gene RNA, U1 small nuclear 27, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC4957, FLJ20578
    Preferred Names
    E2F-associated phosphoprotein

    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_001318916.1NP_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_018453.3NP_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, CD702290
      Consensus CDS
      CCDS41941.1
      UniProtKB/Swiss-Prot
      Q56P03
      Related
      ENSP00000250454.3, OTTHUMP00000244146, ENST00000250454.7, OTTHUMT00000409847
      Conserved Domains (1) summary
      pfam10238
      Location:138282
      Eapp_C; E2F-associated phosphoprotein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      34515929..34539737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536958.1XP_011535260.1  E2F-associated phosphoprotein isoform X2

      Conserved Domains (1) summary
      pfam10238
      Location:74218
      Eapp_C; E2F-associated phosphoprotein
    2. XM_017021460.1XP_016876949.1  E2F-associated phosphoprotein isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      34983755..35007552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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