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EAPP E2F associated phosphoprotein [ Homo sapiens (human) ]

Gene ID: 55837, updated on 24-Nov-2020

Summary

Official Symbol
EAPPprovided by HGNC
Official Full Name
E2F associated phosphoproteinprovided by HGNC
Primary source
HGNC:HGNC:19312
See related
Ensembl:ENSG00000129518 MIM:609486
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

Genomic context

See EAPP in Genome Data Viewer
Location:
14q13.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (34515938..34539721, 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 uncharacterized LOC112268123 Neighboring gene nonconserved acetylation island sequence 117a enhancer Neighboring gene RNA, U1 small nuclear 27, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4957, FLJ20578

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E2F-associated phosphoprotein

NCBI Reference Sequences (RefSeq)

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_001318916.2NP_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_018453.4NP_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
    Related
    ENSP00000250454.3, ENST00000250454.8
    Conserved Domains (1) summary
    pfam10238
    Location:138282
    Eapp_C; E2F-associated phosphoprotein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    34515938..34539721 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_017021460.2XP_016876949.1  E2F-associated phosphoprotein isoform X1

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