| 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]
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
| Disease | Target Count | P-value |
|---|---|---|
| tuberculosis | 1563 | 5.08014743304964E-6 |
| ovarian cancer | 8492 | 4.0162492135649E-4 |
| psoriasis | 6685 | 0.00119631962630251 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Benign epilepsy with centrotemporal spikes | 14 | 6.185 | 3.1 |
| Landau-Kleffner Syndrome | 3 | 3.612 | 1.8 |
| Developmental coordination disorder | 8 | 3.481 | 1.7 |
| WAGR syndrome | 12 | 3.265 | 1.6 |
| Disease | Target Count |
|---|---|
| Aniridia 1 | 5 |
| Disease | log2 FC | p |
|---|---|---|
| psoriasis | 1.300 | 0.001 |
| tuberculosis | 1.300 | 0.000 |
| ovarian cancer | 1.400 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG |
| Dog | EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| C. elegans | EggNOG Inparanoid |
| Fruitfly | EggNOG Inparanoid |
| S.cerevisiae | EggNOG Inparanoid |
| 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. |
MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPAL 1 - 70 DQLLGGGLAVGTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKK 71 - 140 EFDEDVYNHKTPESNIKMKIAWRYQLLPKMEIGPVSSSRFGHYYDASKRMPQELIEASNWHGFFLPEKIS 141 - 210 STLKVEPCSLTPGYTKLLQFIQNIIYEEGFDGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHS 211 - 280 LTKFLYVLRGLLRTSLSACIITMPTHLIQNKAIIARVTTLSDVVVGLESFIGSERETNPLYKDYHGLIHI 281 - 350 RQIPRLNNLICDESDVKDLAFKLKRKLFTIERLHLPPDLSDTVSRSSKMDLAESAKRLGPGCGMMAGGKK 351 - 420 HLDF 421 - 424 //
| 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. |
| More... |
