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Aliases for ELP3 Gene

Aliases for ELP3 Gene

  • Elongator Acetyltransferase Complex Subunit 3 2 3 5
  • EC 2.3.1.48 4 61
  • Elongation Protein 3 Homolog (S. Cerevisiae) 2
  • Elongation Protein 3 Homolog 3
  • Elongator Complex Protein 3 3
  • HELP3 4
  • KAT9 3

External Ids for ELP3 Gene

Previous GeneCards Identifiers for ELP3 Gene

  • GC08P027733
  • GC08P028455
  • GC08P027972
  • GC08P026496
  • GC08P027947

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. Diseases associated with ELP3 include Neuropathy, Hereditary Sensory And Autonomic, Type V. Among its related pathways are Chromatin organization and Chromatin Regulation / Acetylation. GO annotations related to this gene include histone acetyltransferase activity and N-acetyltransferase 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

Regulatory Elements for ELP3 Gene

Enhancers for ELP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F028089 1.2 ENCODE 40.9 +2.2 2152 5.3 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELP3 GC08P028181
GH08F028081 1.2 Ensembl ENCODE 33 -6.7 -6746 2.7 PKNOX1 INSM2 KLF17 FEZF1 ZNF2 ZNF121 ZNF366 SCRT2 KLF7 ZNF391 ELP3 NUGGC SCARA5
GH08F028077 1.1 Ensembl ENCODE 34.7 -11.2 -11163 2.8 PKNOX1 MXI1 TBL1XR1 ZMYM3 ASH2L BMI1 FEZF1 ZIC2 ZNF121 ZBTB48 ELP3 NUGGC SCARA5
GH08F028099 0.8 ENCODE 38.4 +10.7 10655 1.8 ZNF146 KLF1 KLF17 ZBTB40 ZNF335 ZNF121 SCRT2 PRDM10 ZNF600 EGR2 ELP3 GC08P028181
GH08F028116 1.2 Ensembl ENCODE 23.8 +28.1 28131 3.4 PKNOX1 FEZF1 ZNF2 GLIS2 KLF7 ZNF548 FOS ZNF263 SP3 TSHZ1 ELP3 ENSG00000259366 PNOC CLU GC08P028181
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELP3 Gene

Chromosome:
8
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

Genes around ELP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

Selected DME Specific Peptides for ELP3 Gene

Q9H9T3:
  • KRHLSDML
  • RDPTKFQHQG
  • KFQHQGFGM
  • QRDIPMPLV
  • ANGGWETF
  • YGCTRLEIGVQS
  • ARDTNRGHTV
  • VISGVGTR
  • LGHSVDKVEFI
  • GLLRLRKCS
  • HMMPDLPN
  • TGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIR
  • PKLKAKP
  • PRLVDIIAAVP
  • ERDIEQF
  • FIRNLHDALSGH
  • FENPAFR
  • RTASGIAVVAVM
  • CRDVRTRE
  • VRELHVYG
  • YCPGGPDSDFEYSTQSYTGYEPTSMRAIRARY
  • GITIETRPDYC
  • YPTLVIRGTGLYELWK

Post-translational modifications for ELP3 Gene

  • Ubiquitination at Lys 34, Lys 48, Lys 206, Lys 333, Lys 338, and Lys 392
  • Modification sites at PhosphoSitePlus

Domains & Families for ELP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H9T3

UniProtKB/Swiss-Prot:

ELP3_HUMAN :
  • Contains 1 N-acetyltransferase domain.
  • Belongs to the ELP3 family.
Domain:
  • Contains 1 N-acetyltransferase domain.
Family:
  • Belongs to the ELP3 family.
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:0003824 catalytic activity IEA --
GO:0004402 histone acetyltransferase activity IEA --
GO:0005515 protein binding IPI 11714725
GO:0008080 N-acetyltransferase activity IEA --
genes like me logo Genes that share ontologies with ELP3: view
genes like me logo Genes that share phenotypes with ELP3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ELP3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELP3 gene
Compartment Confidence
nucleus 5
peroxisome 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 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:0005634 nucleus IEA --
GO:0005730 nucleolus IDA 11714725
GO:0005737 cytoplasm IEA,IDA 11714725
GO:0008023 transcription elongation factor complex IDA 11714725
genes like me logo Genes that share ontologies with ELP3: view

Pathways & Interactions 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA,TAS 11714725
genes like me logo Genes that share ontologies with ELP3: view

No data available for SIGNOR curated interactions for ELP3 Gene

Drugs & Compounds for ELP3 Gene

(2) Drugs for ELP3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
Coenzyme A Nutra 0

(1) Additional Compounds for ELP3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for ELP3 Gene

Protein differential expression in normal tissues from HIPED for ELP3 Gene

This gene is overexpressed in Breast (39.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELP3 Gene



Protein tissue co-expression partners for ELP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELP3 Gene:

ELP3

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 expression patterns with ELP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ELP3 Gene

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 34 35
  • 99.57 (n)
oppossum
(Monodelphis domestica)
Mammalia ELP3 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELP3 34 35
  • 93.17 (n)
cow
(Bos Taurus)
Mammalia ELP3 34 35
  • 90.55 (n)
mouse
(Mus musculus)
Mammalia Elp3 34 16 35
  • 88.06 (n)
rat
(Rattus norvegicus)
Mammalia LOC100362548 34
  • 87.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELP3 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELP3 34 35
  • 79.24 (n)
lizard
(Anolis carolinensis)
Reptilia ELP3 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elp3 34
  • 77.39 (n)
Str.4002 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16750 34
zebrafish
(Danio rerio)
Actinopterygii elp3 34 35
  • 75.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008300 34
  • 68.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta Elp3 34 35
  • 67.4 (n)
worm
(Caenorhabditis elegans)
Secernentea elpc-3 34 35
  • 66.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELP3 34 35 37
  • 65.68 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23937g 34
  • 64.77 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR201C 34
  • 63.24 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ELO3 34
  • 65.55 (n)
soybean
(Glycine max)
eudicotyledons Gma.5381 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11376 34
rice
(Oryza sativa)
Liliopsida Os04g0484900 34
  • 64.13 (n)
Os.17516 34
barley
(Hordeum vulgare)
Liliopsida Hv.9544 34
wheat
(Triticum aestivum)
Liliopsida Ta.28825 34
corn
(Zea mays)
Liliopsida Zm.4959 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 80 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes elp3 34
  • 65.11 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01229 34
  • 63.18 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1228 34
Species where no ortholog for ELP3 was found in the sources mined by GeneCards:
  • 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
rs1000274 -- 28,127,661(-) GTGCC(C/T)CTTAA intron-variant
rs1000275 -- 28,127,412(-) AGGCA(C/T)TCCAA intron-variant
rs10046787 -- 28,142,578(+) AATGT(A/C)CTCGA intron-variant
rs10086494 -- 28,160,288(+) TCATA(C/T)GAAGA reference, synonymous-codon
rs10087429 -- 28,161,024(+) GAAAT(C/T)GTCTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv398063 CNV insertion 16902084
esv994772 CNV insertion 20482838
esv3448108 CNV insertion 20981092
esv3310544 CNV novel sequence insertion 20981092

Variation tolerance for ELP3 Gene

Residual Variation Intolerance Score: 9.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELP3 Gene

Disorders for ELP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELP3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type v
  • insensitivity to pain, congenital
- elite association - COSMIC cancer census association via MalaCards
Search ELP3 in MalaCards View complete list of genes associated with diseases

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}.

Relevant External Links for ELP3

Genetic Association Database (GAD)
ELP3
Human Genome Epidemiology (HuGE) Navigator
ELP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELP3
genes like me logo Genes that share disorders with ELP3: view

No data available for Genatlas for ELP3 Gene

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 46 64
  2. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes N.A. … Svejstrup J.Q. (J. Biol. Chem. 2002) 2 3 4 64
  3. 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 64
  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 64
  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 22 64

Products for ELP3 Gene

Sources for ELP3 Gene

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