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Tbio Elongator complex protein 4

Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

 Comments

Property Summary

NCBI Gene PubMed Count 22
Grant Count 2
R01 Count 2
Funding $149,924
PubMed Score 19.44
PubTator Score 29.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (9)

Disease Z-score Confidence
Benign epilepsy with centrotemporal spik... 11  6.185 3.1
Aniridia 26 5.095 2.5
Landau-Kleffner Syndrome 3 3.612 1.8
Developmental coordination disorder 8 3.481 1.7
WAGR syndrome 12 3.265 1.6
Glaucoma 134
ovarian cancer 8,484
psoriasis 6,685
tuberculosis 1,557

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.300 0.001
tuberculosis 1.300 0.000
ovarian cancer 1.400 0.000

Synonym

Accession Q96EB1 B4E3W0 E7EPZ6 Q9H4E8 Q9NX11 hELP4
Symbols AN
AN2
hELP4
PAXNEB
PAX6NEB
C11orf19
dJ68P15A.1

Gene

ELP4

 Grant Application (2)

 GO Function (1)

 GO Component (5)

 GO Process (4)

 Compartment GO Term (29)

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 GWAS Trait (2)

Pathway (5)

 UniProt Keyword (8)

Gene RIF (4)

PMID Text
26010655 Our results suggest that ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD to language impairment and epilepsy.
25301525 Results show no difference in BDNF and ELP4 genotype frequencies between benign epilepsy with centrotemporal spikes patients and controls; haplotype analysis also revealed no statistical difference
24995671 No association of SNPs in the ELP4 gene was detected in rolandic epilepsy patients.
19172991 Data suggest that a non-coding mutation in ELP4 impairs brain-specific Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders.

AA Sequence 

MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPAL      1 - 70
DQLLGGGLAVGTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKK     71 - 140
EFDEDVYNHKTPESNIKMKIAWRYQLLPKMEIGPVSSSRFGHYYDASKRMPQELIEASNWHGFFLPEKIS    141 - 210
STLKVEPCSLTPGYTKLLQFIQNIIYEEGFDGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHS    211 - 280
LTKFLYVLRGLLRTSLSACIITMPTHLIQNKAIIARVTTLSDVVVGLESFIGSERETNPLYKDYHGLIHI    281 - 350
RQIPRLNNLICDESDVKDLAFKLKRKLFTIERLHLPPDLSDTVSRSSKMDLAESAKRLGPGCGMMAGGKK    351 - 420
HLDF                                                                      421 - 424
//

Text Mined References (26)

PMID Year Title
26010655 2015 Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
25301525 2014 Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population.
25027321 2014 Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
24995671 2014 Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
22854966 2012 DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator.
21269460 2011 Initial characterization of the human central proteome.
19779648 2009 Human Elongator complex is involved in cell cycle and suppresses cell growth in 293T human embryonic kidney cells.
19682046 2009 From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.
19172991 2009 Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
17577209 2007 The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing.
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