Human Gene ELP4 (ENST00000640961.2) from GENCODE V44
  Description: Homo sapiens elongator acetyltransferase complex subunit 4 (ELP4), transcript variant 1, mRNA. (from RefSeq NM_019040)
RefSeq Summary (NM_019040): 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].
Gencode Transcript: ENST00000640961.2
Gencode Gene: ENSG00000109911.19
Transcript (Including UTRs)
   Position: hg38 chr11:31,509,767-31,790,324 Size: 280,558 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr11:31,509,785-31,783,524 Size: 273,740 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:31,509,767-31,790,324)mRNA (may differ from genome)Protein (424 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ELP4_HUMAN
DESCRIPTION: RecName: Full=Elongator complex protein 4; Short=hELP4; AltName: Full=PAX6 neighbor gene protein;
FUNCTION: 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.
SUBUNIT: Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the ELP4 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ELP4
Diseases sorted by gene-association score: aniridia 2* (568), aniridia* (308), benign epilepsy with centrotemporal spikes (12), iris hypoplasia (8), landau-kleffner syndrome (8), developmental coordination disorder (8), childhood electroclinical syndrome (8), optic nerve hypoplasia (7), iris disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.68 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 218.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -0.1018-0.006 Picture PostScript Text
3' UTR -1527.206800-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008728 - Elongator_complex_protein_4

Pfam Domains:
PF05625 - PAXNEB protein

ModBase Predicted Comparative 3D Structure on Q96EB1
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI Ensembl   
Protein Sequence Protein Sequence   
Alignment Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008607 phosphorylase kinase regulator activity
GO:0000993 RNA polymerase II core binding
GO:0004402 histone acetyltransferase activity

Biological Process:
GO:0002098 tRNA wobble uridine modification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0043966 histone H3 acetylation
GO:0043967 histone H4 acetylation
GO:0045859 regulation of protein kinase activity

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0008023 transcription elongation factor complex
GO:0033588 Elongator holoenzyme complex


-  Descriptions from all associated GenBank mRNAs
  AK000505 - Homo sapiens cDNA FLJ20498 fis, clone KAT08960.
AK304885 - Homo sapiens cDNA FLJ61586 complete cds, highly similar to Homo sapiens elongation protein 4 homolog (ELP4), mRNA.
AL136677 - Homo sapiens mRNA; cDNA DKFZp564P2272 (from clone DKFZp564P2272).
DQ891468 - Synthetic construct clone IMAGE:100004098; FLH177234.01X; RZPDo839E11124D elongation protein 4 homolog (S. cerevisiae) (ELP4) gene, encodes complete protein.
DQ894651 - Synthetic construct Homo sapiens clone IMAGE:100009111; FLH177231.01L; RZPDo839E11123D elongation protein 4 homolog (S. cerevisiae) (ELP4) gene, encodes complete protein.
BC012514 - Homo sapiens elongation protein 4 homolog (S. cerevisiae), mRNA (cDNA clone MGC:21148 IMAGE:4509903), complete cds.
AB463022 - Synthetic construct DNA, clone: pF1KB8667, Homo sapiens ELP4 gene for elongation protein 4 homolog, without stop codon, in Flexi system.
AM393460 - Synthetic construct Homo sapiens clone IMAGE:100001724 for hypothetical protein (ELP4 gene).
AM393857 - Synthetic construct Homo sapiens clone IMAGE:100001721 for hypothetical protein (ELP4 gene).
JD405037 - Sequence 386061 from Patent EP1572962.
JD336790 - Sequence 317814 from Patent EP1572962.
JD407880 - Sequence 388904 from Patent EP1572962.
JD466424 - Sequence 447448 from Patent EP1572962.
JD454980 - Sequence 436004 from Patent EP1572962.
JD291360 - Sequence 272384 from Patent EP1572962.
JD430041 - Sequence 411065 from Patent EP1572962.
JD042265 - Sequence 23289 from Patent EP1572962.
CU680129 - Synthetic construct Homo sapiens gateway clone IMAGE:100017234 3' read PAX6 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96EB1 (Reactome details) participates in the following event(s):

R-HSA-3301345 Elongator complex acetylates replicative histone H3, H4
R-HSA-3214847 HATs acetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: C11orf19, ELP4_HUMAN, ENST00000640961.1, NM_019040, PAXNEB, Q96EB1, Q9H4E8, Q9NX11, uc001mtb.1, uc001mtb.2, uc001mtb.3, uc001mtb.4, uc001mtb.5, uc001mtb.6, uc001mtb.7
UCSC ID: ENST00000640961.2
RefSeq Accession: NM_019040
Protein: Q96EB1 (aka ELP4_HUMAN)
CCDS: CCDS7875.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.