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Aliases for ELP3 Gene

Aliases for ELP3 Gene

  • Elongator Acetyltransferase Complex Subunit 3 2 3
  • EC 2.3.1.48 4 64
  • KAT9 3 6
  • Elongation Protein 3 Homolog (S. Cerevisiae) 2
  • Elongation Protein 3 Homolog 3
  • Elongator Complex Protein 3 3
  • HELP3 4

External Ids for ELP3 Gene

Summaries for ELP3 Gene

Entrez Gene Summary for ELP3 Gene

  • ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]

GeneCards Summary for ELP3 Gene

ELP3 (Elongator Acetyltransferase Complex Subunit 3) is a Protein Coding gene. Among its related pathways are Chromatin Regulation / Acetylation 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 ELP3 Gene

  • Catalytic histone acetyltransferase subunit of the RNA polymerase II elongator complex, which is a 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. Involved in acetylation of alpha-tubulin (PubMed:19185337). May also have a methyltransferase activity. Involved in cell migration. Involved in neurogenesis. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).

Gene Wiki entry for ELP3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELP3 Gene

Genomics for ELP3 Gene

Genomic Location for ELP3 Gene

Start:
28,089,673 bp from pter
End:
28,191,156 bp from pter
Size:
101,484 bases
Orientation:
Plus strand

Genomic View for ELP3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ELP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELP3 Gene

Regulatory Elements for ELP3 Gene

Proteins for ELP3 Gene

  • Protein details for ELP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9T3-ELP3_HUMAN
    Recommended name:
    Elongator complex protein 3
    Protein Accession:
    Q9H9T3
    Secondary Accessions:
    • B4DE19
    • B4DIG1
    • E2QRI5
    • Q53G84
    • Q6AWB0
    • Q9BVF7
    • Q9NVZ1

    Protein attributes for ELP3 Gene

    Size:
    547 amino acids
    Molecular mass:
    62259 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.;
    Quaternary structure:
    • Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. IKBKAP/ELP1, STIP1/ELP2 and ELP3 form the Elongator core complex. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with IKBKAP/ELP1 (PubMed:11818576, PubMed:19185337). Interacts with alpha-tubulin (PubMed:19185337).
    SequenceCaution:
    • Sequence=BAA91600.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAH10573.1; Type=Frameshift; Positions=279; Evidence={ECO:0000305};

    Alternative splice isoforms for ELP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELP3 Gene

Proteomics data for ELP3 Gene at MOPED

Post-translational modifications for ELP3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys34, Lys48, Lys206, Lys333, Lys338, and Lys392

Domains for ELP3 Gene

Gene Families for ELP3 Gene

HGNC:
  • KAT :Chromatin-modifying enzymes / K-acetyltransferases
  • ELP :Elongator acetyltransferase complex subunits

UniProtKB/Swiss-Prot:

ELP3_HUMAN
Domain:
  • Contains 1 N-acetyltransferase domain.:
    • Q9H9T3
Family:
  • Belongs to the ELP3 family.:
    • Q9H9T3
genes like me logo Genes that share domains with ELP3: view

Function for ELP3 Gene

Molecular function for ELP3 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Acetyl-CoA + [histone] = CoA + acetyl-[histone]
UniProtKB/Swiss-Prot Function: Catalytic histone acetyltransferase subunit of the RNA polymerase II elongator complex, which is a 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. Involved in acetylation of alpha-tubulin (PubMed:19185337). May also have a methyltransferase activity. Involved in cell migration. Involved in neurogenesis. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).

Enzyme Numbers (IUBMB) for ELP3 Gene

Gene Ontology (GO) - Molecular Function for ELP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 contributes_to RNA polymerase II core binding IDA 11714725
GO:0003677 DNA binding --
GO:0003824 catalytic activity --
GO:0004402 histone acetyltransferase activity --
GO:0005515 protein binding IPI 11714725
genes like me logo Genes that share ontologies with ELP3: view

miRNA for ELP3 Gene

miRTarBase miRNAs that target ELP3

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ELP3 Gene

Localization for ELP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELP3 Gene

Cytoplasm.
Isoform 1: Nucleus.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELP3 Gene COMPARTMENTS Subcellular localization image for ELP3 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ELP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 11714725
GO:0005730 nucleolus IDA 11714725
GO:0005737 cytoplasm IDA --
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 ELP3: view

Pathways for ELP3 Gene

genes like me logo Genes that share pathways with ELP3: view

Pathways by source for ELP3 Gene

1 Cell Signaling Technology pathway for ELP3 Gene

Gene Ontology (GO) - Biological Process for ELP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0002098 tRNA wobble uridine modification IBA --
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
genes like me logo Genes that share ontologies with ELP3: view

Compounds for ELP3 Gene

(3) HMDB Compounds for ELP3 Gene

Compound Synonyms Cas Number PubMed IDs
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
genes like me logo Genes that share compounds with ELP3: view

Transcripts for ELP3 Gene

Unigene Clusters for ELP3 Gene

Elongator acetyltransferase complex subunit 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELP3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b
SP1: - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for ELP3 Gene

GeneLoc Exon Structure for
ELP3
ECgene alternative splicing isoforms for
ELP3

Expression for ELP3 Gene

mRNA expression in normal human tissues for ELP3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ELP3 Gene

SOURCE GeneReport for Unigene cluster for ELP3 Gene Hs.491336

mRNA Expression by UniProt/SwissProt for ELP3 Gene

Q9H9T3-ELP3_HUMAN
Tissue specificity: Expressed in the cerebellum and spinal motor neurons.
genes like me logo Genes that share expressions with ELP3: view

Orthologs for ELP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELP3 36
  • 99.57 (n)
  • 99.82 (a)
ELP3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELP3 36
  • 90.55 (n)
  • 98.35 (a)
ELP3 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELP3 36
  • 93.17 (n)
  • 98.54 (a)
ELP3 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elp3 36
  • 88.06 (n)
  • 95.8 (a)
Elp3 16
Elp3 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELP3 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELP3 37
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100362548 36
  • 87.81 (n)
  • 96.53 (a)
chicken
(Gallus gallus)
Aves ELP3 36
  • 79.24 (n)
  • 91.58 (a)
ELP3 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELP3 37
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16750 36
tropical clawed frog
(Silurana tropicalis)
Amphibia elp3 36
  • 77.39 (n)
  • 90.2 (a)
Str.4002 36
zebrafish
(Danio rerio)
Actinopterygii elp3 36
  • 75.84 (n)
  • 90.46 (a)
elp3 37
  • 91 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008300 36
  • 68.15 (n)
  • 83.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta Elp3 36
  • 67.4 (n)
  • 82.63 (a)
Elp3 37
  • 82 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea elpc-3 36
  • 66.79 (n)
  • 80.49 (a)
elpc-3 37
  • 79 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR201C 36
  • 63.24 (n)
  • 74.5 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELP3 36
  • 65.68 (n)
  • 75.23 (a)
ELP3 37
  • 73 (a)
OneToOne
ELP3 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23937g 36
  • 64.77 (n)
  • 74.45 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11376 36
soybean
(Glycine max)
eudicotyledons Gma.5381 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ELO3 36
  • 65.55 (n)
  • 73.98 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.9544 36
corn
(Zea mays)
Liliopsida Zm.4959 36
rice
(Oryza sativa)
Liliopsida Os.17516 36
Os04g0484900 36
  • 64.13 (n)
  • 74.54 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28825 36
bread mold
(Neurospora crassa)
Ascomycetes NCU01229 36
  • 63.18 (n)
  • 73.21 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes elp3 36
  • 65.11 (n)
  • 74.3 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1228 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 80 (a)
OneToOne
Species with no ortholog for ELP3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ELP3 Gene

ENSEMBL:
Gene Tree for ELP3 (if available)
TreeFam:
Gene Tree for ELP3 (if available)

Paralogs for ELP3 Gene

No data available for Paralogs for ELP3 Gene

Variants for ELP3 Gene

Sequence variations from dbSNP and Humsavar for ELP3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs9885 -- 28,190,917(-) GGTTG(A/T)ACTTG utr-variant-3-prime
rs191597 -- 28,165,547(+) GCCTA(A/G)ATACT intron-variant
rs351757 -- 28,172,280(-) tgtgt(C/T)catgg intron-variant
rs351758 -- 28,171,501(-) gttaa(A/G)aaatg intron-variant
rs351759 -- 28,170,674(-) TCCAT(C/G)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELP3 Gene

Variant ID Type Subtype PubMed ID
nsv890701 CNV Loss 21882294
nsv398063 CNV Insertion 16902084
esv994772 CNV Insertion 20482838

Relevant External Links for ELP3 Gene

HapMap Linkage Disequilibrium report
ELP3

Disorders for ELP3 Gene

UniProtKB/Swiss-Prot

ELP3_HUMAN
  • Note=ELP3 genetic variations may be associated with an increased risk for neurodegeneration and motor neuron diseases. {ECO:0000303 PubMed:18996918}.

(1) University of Copenhagen DISEASES for ELP3 Gene

Relevant External Links for ELP3

Genetic Association Database (GAD)
ELP3
Human Genome Epidemiology (HuGE) Navigator
ELP3
genes like me logo Genes that share disorders with ELP3: view

Publications for ELP3 Gene

  1. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. (PMID: 18996918) Simpson C.L. … Al-Chalabi A. (Hum. Mol. Genet. 2009) 3 4 49
  2. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes N.A. … Svejstrup J.Q. (J. Biol. Chem. 2002) 2 3 4
  3. Human Elongator facilitates RNA polymerase II transcription through chromatin. (PMID: 11818576) Kim J.H. … Reinberg D. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4
  4. Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. (PMID: 19185337) Creppe C. … Nguyen L. (Cell 2009) 3 4
  5. hELP3 subunit of the Elongator complex regulates the transcription of HSP70 gene in human cells. (PMID: 17558451) Han Q. … Lu J. (Acta Biochim. Biophys. Sin. (Shanghai) 2007) 3 23

Products for ELP3 Gene

Sources for ELP3 Gene

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