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FLASH GENE
Symbol ELP3 contributors: mct/npt - updated : 05-01-2017
HGNC name elongation protein 3 homolog (S. cerevisiae)
HGNC id 20696
Location 8p21.1      Physical location : 27.950.583 - 28.048.667
Synonym name elongation protein 3 homolog
Synonym symbol(s) FLJ10422, KAT9
EC.number 2.3.1.48
DNA
TYPE functioning gene
STRUCTURE 100.92 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
EBF2 8p21.1 early B-cell factor 2 PPP2R2A 8p21.1 protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform LOC157489 8p21.1 similar to hypothetical protein FLJ10498 BNIP3L 8p21 BCL2/adenovirus E1B 19kDa interacting protein 3-like PNMA2 8p21.1 paraneoplastic antigen MA2 LOC338097 8p21 proteasome activator subunit 2 pseudogene DPYSL2 8p21 dihydropyrimidinase-like 2 ADRA1A 8p21-p11.2 adrenergic, alpha-1A-, receptor LOC286129 8p21.1 similar to chromosome 15 open reading frame 2 STMN4 8P21.1 stathmin-like 4 TRIM35 8p21.1 tripartite motif-containing 35 PTK2B 8p21.1 PTK2B protein tyrosine kinase 2 beta CHRNA2 8p21 cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) EPHX2 8p21-p12 epoxide hydrolase 2, cytoplasmic GULOP 8p21.1 gulonolactone (L-) oxidase pseudogene CLU 8p21.3-p12 clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) SCARA3 8p21 scavenger receptor class A, member 3 FLJ10853 8p21.1 hypothetical protein FLJ10853 LOC157570 8p21.1 hypothetical protein LOC157570 TOPK 8p21.2 hypothetical protein LOC157570 MGC45780 8p21.1 hypothetical protein MGC45780 LOC389643 8 hypothetical gene supported by AK129923 ELP3 8p21.1 elongation protein 3 homolog (S. cerevisiae) LOC389644 8 similar to 60S ribosomal protein L5 LOC346848 8p21.1 similar to 60S RIBOSOMAL PROTEIN L5 PNOC 8p21 prepronociceptin DKFZp434K1210 8p21.1 hypothetical protein DKFZp434K1210 PBF 8p21.1 papillomavirus regulatory factor PRF-1 FBXO16 8p21.1 F-box only protein 16 FZD3 8p21 frizzled homolog 3 (Drosophila) EXTL3 8p21 exostoses (multiple)-like 3 FLJ10871 8p21.1 hypothetical protein FLJ10871 FLJ21616 8p21.1 hypothetical protein FLJ21616 KIF13B 8p21-p12 kinesin family member 13B DUSP4 8p12-p11 dual specificity phosphatase 4 LOC392208 8 similar to Ac2-210 LOC389645 8 LOC389645 MAP2K1P1 8p21 mitogen-activated protein kinase kinase 1 pseudogene 1 MGC8721 8p12 hypothetical protein MGC8721 LEPROTL1 8p21.2-p21.1 leptin receptor overlapping transcript-like 1 DCTN6 8p12-p11 dynactin 6 LOC392209 8 similar to heat shock protein (hsp-2)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3232 62 547 - 2010 20626565
15 - 3170 - 533 - 2010 20626565
14 - 3096 - 455 - 2010 20626565
13 - 3032 - 428 - 2010 20626565
14 - 3135 - 475 - 2010 20626565
13 - 3071 - 428 - 2010 20626565
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonamygdala  
Reproductivefemale systemuteruscervix  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • GNAT domain playing a significant role in axon targeting and synaptic communication (Simpson 2009)
  • mono polymer complex
    HOMOLOGY
    interspecies homolog to murine Elp3
    homolog to S.cervisiae ELP3
    Homologene
    FAMILY
  • ELP3 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text predominantly found in nucleus but also localized to the nucleoli and in the cytoplasm
    basic FUNCTION
  • N-acetyltransferase activity
  • may have a role for the elongator complex during transcription
  • critical regulator of axon targeting and synaptic communication (Simpson 2009)
  • involved in RNA processing (Simpson 2009)
  • promotes acetylation and counteracts HDAC6-mediated deacetylation of tubulin alpha (Creppe 2009)
  • is the acetylase component of the complex and is known to play a key role in histone acetylation
  • ELP3, and possibly the ELONGATOR complex may play a role in mitochondrial function, as well as in actin organisation and cell motility
  • having functions in HSP70-2 gene transcriptional elongation in cells (Han 2007)
  • ELP1, ELP2, ELP3, ELP4, ELP5, ELP6 plays vital roles in gene regulation
  • drives Wnt-dependent tumor initiation and regeneration in the intestine
  • implicated in translational regulation via modification of tRNA at the wobble position
  • ELP3 function is critical for translational efficiency of the genes
  • CELLULAR PROCESS nucleotide, transcription, elongation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • one of the six subunits of the elongator complex (IKAP, ELP3, p38, p30, ELP4 and p95)
  • part of the RNA polymerase II complex (Simpson 2009)
  • subunit of the Elongator (Han 2007)
  • core Elongator complex formed by IKBKAP, ELP2, and ELP3 was rather stable, whereas ELP4, ELP5, and ELP6 might loosely contact and work together with the core Elongator to regulate cell functions
  • catalytic subunit of the Elongator complex
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • interacting directly with RNAPII
  • ELP5 is required for the integrity of Elongator and directly connects ELP3 to ELP4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    with CCDC25, DLC1, PROSC, SH2D4A, and SORBS3 in Hepatocellular carcinoma (HCC) from patients with poor outcomes
    tumoral     --low  
    promoter hypermethylation may be an important mechanism of the transcriptional inactivation of ARRDC3, GATA5, and ELP3 in invasive ductal carcinomas (IDCs)
    Susceptibility
  • to amyotropic lateral sclerosis (ALS)
  • to motor neuron degeneration
  • Variant & Polymorphism SNP association of ELP3 variants with motor neuron degeneration (Simpson 2009)
    Candidate gene
    Marker
    Therapy target potential therapeutic target for treatment of ALS (Simpson 2009)
    ANIMAL & CELL MODELS
  • depletion of Elp3 in embryonic stem cell (ESC) led to aberrant cell cycle progression, along with reduced expression of genes for pluripotency