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

Gene ID: 1875, updated on 10-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
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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

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex  
located_in chromatin  
located_in cytoplasm  
located_in fibrillar center  
located_in intracellular membrane-bounded organelle  
located_in nucleolus  
located_in nucleoplasm  
located_in nucleoplasm  

General protein information

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

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_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)
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