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FLASH GENE
Symbol E4F1 contributors: mct/npt - updated : 06-07-2013
HGNC name E4F transcription factor 1
HGNC id 3121
Location 16p13.3      Physical location : 2.273.566 - 2.285.742
Synonym name putative E3 ubiquitin-protein ligase E4F1
Synonym symbol(s) E4F, MGC99614, p120E4F, p50E4F
EC.number 6.3.2.-
DNA
TYPE functioning gene
STRUCTURE 12.18 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D16S146 - D16S84 - TSC2 TSC2 ,E4F1 ,D16S139 ,PKD1 ) - D16S283 - qter
Authors Rooney (98)
Physical map
LOC342460 16p13.3 similar to c439A6.1 (novel protein similar to heparan sulfate (glucosamine) 3-O-sulfotransferases) SEPX1 16p13.3 selenoprotein X, 1 RPL3L 16p13.3 ribosomal protein L3-like NDUFB10 16p13.3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa RPS2 16p13.3 ribosomal protein S2 RNF151 16p13.3 ring finger protein 151 TBL3 16p13.3 transducin (beta)-like 3 NOXO1 16p13.3 NADPH oxidase organizer 1 GFER 16p13.3-p13.12 growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae) SYNGR3 16p13 synaptogyrin 3 LOC90850 16p13.3 hypothetical protein LOC90850 SLC9A3R2 16p13.3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2 NTHL1 16p13.3p13.2 nth endonuclease III-like 1 (E. coli) TSC2 16p13.3 tuberous sclerosis 2 PKD1 16p13.3 polycystic kidney disease 1 (autosomal dominant) RFWD1 16p13.3 ring finger and WD repeat domain 1 RAB26 16p13.3 RAB26, member RAS oncogene family CASKIN1 16p13.11 CASK interacting protein 1 GBL 16p13.3 G protein beta subunit-like MGC21830 16p13.3 hypothetical protein MGC21830 LOC388203 16 LOC388203 LOC283871 16p13.3 hypothetical protein LOC283871 E4F1 16p13.3 E4F transcription factor 1 DNASE1L2 16p13.3 deoxyribonuclease I-like 2 DCI 16p13.3 dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) RNPS1 16p13.3 RNA binding protein S1, serine-rich domain LOC388204 16 LOC388204 ABCA3 16p13.3 ATP-binding cassette, sub-family A (ABC1), member 3 LOC390669 16 similar to ATP-binding cassette transporter ABCA3 CCNF 16p13.3 cyclin F FLJ13909 16p13.3 hypothetical protein FLJ13909 NTN2L 16p13.3 netrin 2-like (chicken) LOC146446 16p13.3 hypothetical LOC146446 KIAA1171 16p13.3 KIAA1171 protein
RNA
TRANSCRIPTS type messenger
text
  • low spliced isoforms :
  • up-regulated 120kDa
  • down-regulated 50kDa
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2573 83.6 784 - 2007 17557114
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Reproductivefemale systemuterus   
     male systemprostate  highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a zinc finger
  • isoforms Precursor A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage.
    HOMOLOGY
    interspecies homolog to the murine nuclear factor phiAP3, highly
    intraspecies homolog to GLI-Krüppel protein
    Homologene
    FAMILY
  • C2H2-type zinc finger family
  • Gli–Kruppel family
  • CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • repressing transcription from the E4 promoter in the absence of E1A
  • atypical ubiquitin E3 ligase, modulating its effector functions without promoting proteolysis
  • stimulating oligo-ubiquitylation in the hinge region of TP53
  • mediating post-translational modification of TP53
  • a key modulator of BMI1 activity in primitive hematopoietic cells
  • key player in the control of mammalian embryonic and somatic cell proliferation and survival
  • multifunctional protein involved in signaling pathways that play essential roles during normal development and tumorigenesis
  • multifunctional protein with transcriptional and atypical ubiquitin E3 ligase activities
  • involved in key signaling pathways commonly deregulated during cell transformation
  • role for E4F1 in the survival of myeloid leukemic cells
  • through its connection with the BMI1 and the CDKN2A/Arf-TPp53 axis, plays a role in stem cell–dependent skin homeostasis
  • CELLULAR PROCESS cell cycle
    nucleotide, transcription
    protein, post translation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with RASSF1A
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • BMI1-interacting partner in hematopoietic cells (genetically interact in the hematopoietic compartment to regulate cellular proliferation)
  • interacting with FHL2 (E4F1-FHL2 association occurs in the nuclear compartment and inhibits the capacity of E4F1 to block cell proliferation)
  • regulates the proper splicing of transcripts encoding for pluripotency regulators such as POU5F1, PRDM14, E4F1 and MED24
  • cell & other
    REGULATION
    Other adenovirus EIA regulated
    differentially regulated by E1A-induced phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in a large subset of human acute myeloid leukemia samples
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    targeting E4F1 activities might have therapeutic interest, in myeloid leukemia
    ANIMAL & CELL MODELS
  • E4F1 KO in the in the epidermis leads to neonatal lethality resulting from defects in skin homeostasis