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Aliases for ELP4 Gene

Aliases for ELP4 Gene

  • Elongator Acetyltransferase Complex Subunit 4 2 3
  • PAX6 Neighbor Gene Protein 3 4
  • C11orf19 3 4
  • PAX6NEB 3 6
  • PAXNEB 3 4
  • HELP4 3 4
  • AN 3 6
  • Elongation Protein 4 Homolog (S. Cerevisiae) 2
  • Chromosome 11 Open Reading Frame 19 2
  • Elongation Protein 4 Homolog 3
  • Elongator Complex Protein 4 3
  • DJ68P15A.1 3

External Ids for ELP4 Gene

Previous Symbols for ELP4 Gene

  • C11orf19

Summaries for ELP4 Gene

Entrez Gene Summary for ELP4 Gene

  • 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]

GeneCards Summary for ELP4 Gene

ELP4 (Elongator Acetyltransferase Complex Subunit 4) is a Protein Coding gene. Diseases associated with ELP4 include aniridia and articulation disorder. Among its related pathways are RNA Polymerase I Promoter Opening and RNA Polymerase I Promoter Opening. GO annotations related to this gene include histone acetyltransferase activity and phosphorylase kinase regulator activity.

UniProtKB/Swiss-Prot for ELP4 Gene

  • 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.

Gene Wiki entry for ELP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELP4 Gene

Genomics for ELP4 Gene

Genomic Location for ELP4 Gene

Start:
31,509,729 bp from pter
End:
31,784,525 bp from pter
Size:
274,797 bases
Orientation:
Plus strand

Genomic View for ELP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ELP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELP4 Gene

Regulatory Elements for ELP4 Gene

Proteins for ELP4 Gene

  • Protein details for ELP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EB1-ELP4_HUMAN
    Recommended name:
    Elongator complex protein 4
    Protein Accession:
    Q96EB1
    Secondary Accessions:
    • B4E3W0
    • E7EPZ6
    • Q9H4E8
    • Q9NX11

    Protein attributes for ELP4 Gene

    Size:
    424 amino acids
    Molecular mass:
    46588 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for ELP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELP4 Gene

Proteomics data for ELP4 Gene at MOPED

Post-translational modifications for ELP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELP4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ELP4 Gene

Domains for ELP4 Gene

Gene Families for ELP4 Gene

HGNC:
  • ELP :Elongator acetyltransferase complex subunits

Protein Domains for ELP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q96EB1

UniProtKB/Swiss-Prot:

ELP4_HUMAN
Family:
  • Belongs to the ELP4 family.:
    • Q96EB1
genes like me logo Genes that share domains with ELP4: view

Function for ELP4 Gene

Molecular function for ELP4 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ELP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 contributes_to RNA polymerase II core binding IDA 11714725
GO:0004402 contributes_to histone acetyltransferase activity IDA 11714725
GO:0005515 protein binding IPI 17577209
GO:0008607 phosphorylase kinase regulator activity IDA 11818576
genes like me logo Genes that share ontologies with ELP4: view
genes like me logo Genes that share phenotypes with ELP4: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ELP4 Gene

Localization for ELP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELP4 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELP4 Gene COMPARTMENTS Subcellular localization image for ELP4 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
golgi apparatus 2
mitochondrion 2
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ELP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 11714725
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 11818576
GO:0008023 transcription elongation factor complex IDA 11714725
GO:0016591 DNA-directed RNA polymerase II, holoenzyme --
genes like me logo Genes that share ontologies with ELP4: view

Pathways for ELP4 Gene

genes like me logo Genes that share pathways with ELP4: view

Pathways by source for ELP4 Gene

Gene Ontology (GO) - Biological Process for ELP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 11714725
GO:0006368 transcription elongation from RNA polymerase II promoter TAS 11714725
GO:0016573 histone acetylation --
GO:0043966 histone H3 acetylation IDA 11714725
genes like me logo Genes that share ontologies with ELP4: view

Transcripts for ELP4 Gene

Unigene Clusters for ELP4 Gene

Elongator acetyltransferase complex subunit 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: - -

Relevant External Links for ELP4 Gene

GeneLoc Exon Structure for
ELP4
ECgene alternative splicing isoforms for
ELP4

Expression for ELP4 Gene

mRNA expression in normal human tissues for ELP4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ELP4 Gene

SOURCE GeneReport for Unigene cluster for ELP4 Gene Hs.175534

mRNA Expression by UniProt/SwissProt for ELP4 Gene

Q96EB1-ELP4_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with ELP4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ELP4 Gene

Orthologs for ELP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELP4 35
  • 99.29 (n)
  • 98.58 (a)
ELP4 36
  • 72 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELP4 35
  • 89.05 (n)
  • 86.29 (a)
ELP4 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELP4 35
  • 89.2 (n)
  • 86.29 (a)
ELP4 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elp4 35
  • 83.41 (n)
  • 78.2 (a)
Elp4 16
Elp4 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELP4 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELP4 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC365839 35
  • 83.25 (n)
  • 79.31 (a)
chicken
(Gallus gallus)
Aves ELP4 35
  • 72.35 (n)
  • 66.67 (a)
ELP4 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELP4 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elp4 35
  • 66.17 (n)
  • 63.09 (a)
zebrafish
(Danio rerio)
Actinopterygii elp4 35
  • 60.29 (n)
  • 56.93 (a)
elp4 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010407 35
  • 49.14 (n)
  • 40.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6907 35
  • 48.12 (n)
  • 39.4 (a)
CG6907 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea elpc-4 35
  • 44.04 (n)
  • 31.13 (a)
elpc-4 36
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ELO1 35
  • 41.22 (n)
  • 26.01 (a)
rice
(Oryza sativa)
Liliopsida Os06g0639600 35
  • 43.12 (n)
  • 27.22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for ELP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELP4 Gene

ENSEMBL:
Gene Tree for ELP4 (if available)
TreeFam:
Gene Tree for ELP4 (if available)

Paralogs for ELP4 Gene

genes like me logo Genes that share paralogs with ELP4: view

No data available for Paralogs for ELP4 Gene

Variants for ELP4 Gene

Sequence variations from dbSNP and Humsavar for ELP4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs14571 -- 31,783,625(-) TCAAG(A/G)AGTGG utr-variant-3-prime
rs14572 -- 31,783,713(-) GAAAA(A/G)TTTAA utr-variant-3-prime
rs475012 -- 31,526,385(-) ACTTG(A/T)CGTTA intron-variant
rs476514 -- 31,515,035(-) ATATA(C/T)ACACA intron-variant
rs488084 -- 31,517,555(-) AGAAA(C/T)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELP4 Gene

Variant ID Type Subtype PubMed ID
nsv529004 CNV Loss 19592680
esv2751022 CNV Loss 17911159
nsv897179 CNV Loss 21882294
nsv467785 CNV Loss 19166990
dgv1063n71 CNV Loss 21882294
esv2659609 CNV Deletion 23128226
nsv897184 CNV Loss 21882294
nsv897185 CNV Loss 21882294
nsv897186 CNV Loss 21882294
esv2669864 CNV Deletion 23128226
dgv62n21 CNV Loss 19592680
nsv825813 CNV Loss 20364138
nsv897187 CNV Loss 21882294
nsv7726 CNV Loss 18451855
esv2671224 CNV Deletion 23128226
nsv7727 CNV Loss 18451855
nsv825814 CNV Gain 20364138

Relevant External Links for ELP4 Gene

HapMap Linkage Disequilibrium report
ELP4
Human Gene Mutation Database (HGMD)
ELP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELP4 Gene

Disorders for ELP4 Gene

(1) OMIM Diseases for ELP4 Gene (606985)

Relevant External Links for ELP4

Genetic Association Database (GAD)
ELP4
genes like me logo Genes that share disorders with ELP4: view

No data available for UniProtKB/Swiss-Prot for ELP4 Gene

Publications for ELP4 Gene

  1. Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance. (PMID: 11889558) Kleinjan D.A. … van Heyningen V. (Mamm. Genome 2002) 2 3 4 23
  2. DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. (PMID: 22854966) Close P. … Chariot A. (J. Biol. Chem. 2012) 3 4
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  4. RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes. (PMID: 11435442) Winkler G.S. … Svejstrup J.Q. (J. Biol. Chem. 2001) 2 3
  5. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes N.A. … Svejstrup J.Q. (J. Biol. Chem. 2002) 3 4

Products for ELP4 Gene

Sources for ELP4 Gene

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