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    E2F5 E2F transcription factor 5 [ Homo sapiens (human) ]

    Gene ID: 1875, updated on 9-Dec-2024

    Summary

    Official Symbol
    E2F5provided by HGNC
    Official Full Name
    E2F transcription factor 5provided by HGNC
    Primary source
    HGNC:HGNC:3119
    See related
    Ensembl:ENSG00000133740 MIM:600967; AllianceGenome:HGNC:3119
    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
    E2F-5
    Summary
    The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lymph node (RPKM 12.6), thyroid (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See E2F5 in Genome Data Viewer
    Location:
    8q21.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (85177154..85214518)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (85615754..85653117)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86089389..86126753)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27589 Neighboring gene leucine rich repeat and coiled-coil centrosomal protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19334 Neighboring gene E2F5 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:86132079-86132850 Neighboring gene uncharacterized LOC124901969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27593 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:86133623-86134392 Neighboring gene uncharacterized LOC105375936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:86138147-86138646 Neighboring gene ribosomal biogenesis factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27594 Neighboring gene carbonic anhydrase 13

    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

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    transcription factor E2F5
    Names
    E2F transcription factor 5, p130-binding

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001083588.2NP_001077057.1  transcription factor E2F5 isoform 2

      See identical proteins and their annotated locations for NP_001077057.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC011773, AI740797, CN312917, DB534924, U15642, U31556
      Consensus CDS
      CCDS47886.1
      UniProtKB/Swiss-Prot
      Q15329
      Related
      ENSP00000414312.2, ENST00000418930.6
      Conserved Domains (2) summary
      cd14660
      Location:128232
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:52116
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain
    2. NM_001083589.2NP_001077058.1  transcription factor E2F5 isoform 3

      See identical proteins and their annotated locations for NP_001077058.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus when compared to isoform 1.
      Source sequence(s)
      AC011773, BM919591, BP224536, DB534924, U31556, Z78409
      Consensus CDS
      CCDS55254.1
      UniProtKB/TrEMBL
      H0YBK0
      Related
      ENSP00000429120.1, ENST00000517476.5
      Conserved Domains (1) summary
      cd14660
      Location:171
      E2F_DD; Dimerization domain of E2F transcription factors
    3. NM_001951.4NP_001942.2  transcription factor E2F5 isoform 1

      See identical proteins and their annotated locations for NP_001942.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC011773, AI740797, DB534924, U15642, U31556, Z78409
      Consensus CDS
      CCDS47885.1
      UniProtKB/Swiss-Prot
      E9PBN9, Q15329, Q16601, Q92756
      Related
      ENSP00000398124.2, ENST00000416274.7
      Conserved Domains (2) summary
      cd14660
      Location:128232
      E2F_DD; Dimerization domain of E2F transcription factors
      pfam02319
      Location:52116
      E2F_TDP; E2F/DP family winged-helix DNA-binding domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      85177154..85214518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      85615754..85653117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)