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] See more...

Aliases for ELP3 Gene

Aliases for ELP3 Gene

  • Elongator Acetyltransferase Complex Subunit 3 2 3 5
  • Protein Lysine Acetyltransferase ELP3 3 4
  • TRNA Uridine(34) Acetyltransferase 3 4
  • Elongator Complex Protein 3 3 4
  • KAT9 2 3
  • Elongation Protein 3 Homolog (S. Cerevisiae) 2
  • Elongation Protein 3 Homolog 3
  • EC 2.3.1.48 51
  • EC 2.3.1.- 4
  • FLJ10422 2
  • HELP3 4
  • ELP3 5

External Ids for ELP3 Gene

Previous GeneCards Identifiers for ELP3 Gene

  • GC08P027733
  • GC08P028455
  • GC08P027972
  • GC08P028006
  • 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 Iii and Hereditary Sensory Neuropathy. Among its related pathways are Chromatin organization and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include histone acetyltransferase activity and N-acetyltransferase activity.

UniProtKB/Swiss-Prot Summary for ELP3 Gene

  • Catalytic tRNA 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 (PubMed:11714725, PubMed:11818576, PubMed:15902492, PubMed:16713582). The elongator complex is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29415125). In the elongator complex, acts as a tRNA uridine(34) acetyltransferase by mediating formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (By similarity). May also act as a protein lysine acetyltransferase by mediating acetylation of target proteins; such activity is however unclear in vivo and recent evidences suggest that ELP3 primarily acts as a tRNA acetyltransferase (PubMed:29415125). Involved in neurogenesis: regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (PubMed:19185337). Required for acetylation of GJA1 in the developing cerebral cortex (By similarity).

Gene Wiki entry for ELP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELP3 Gene

Genomics for ELP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J028089 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 640.9 +2.3 2325 5.6 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST RFX1 LEF1 IKZF1 ZNF692 ELP3 ESCO2 INTS9 piR-34822-310 PNOC
GH08J028077 Enhancer 1.2 Ensembl ENCODE dbSUPER 34.8 -11.0 -10973 3.4 PRDM10 STAT3 IKZF2 RCOR1 SP1 TRIM22 PKNOX1 ARID3A PAX8 DPF2 ELP3 FJ601678-117 NUGGC SCARA5
GH08J028081 Enhancer 1.1 Ensembl ENCODE dbSUPER 33 -6.6 -6577 3 PRDM10 ZNF629 ZNF692 PRDM1 PATZ1 SP1 ZNF341 ZNF639 ZNF10 ZXDB NUGGC ELP3 FJ601678-117 SCARA5
GH08J028183 Enhancer 1.1 Ensembl ENCODE 23 +98.6 98633 9.8 CTCF PRDM10 ZNF629 IKZF1 ZNF692 PRDM1 ZIC2 PKNOX1 PATZ1 IKZF2 ELP3 CLU LOC105379343 LOC100131127 PNOC
GH08J028116 Enhancer 1 Ensembl ENCODE 23.9 +28.9 28881 4.9 ZNF629 ZNF692 PRDM1 ZSCAN4 ZNF600 PKNOX1 ZNF561 SCRT2 ZBTB44 CTCF ELP3 PNOC CLU L13714-427 LOC105379343
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELP3

Top Transcription factor binding sites by QIAGEN in the ELP3 gene promoter:
  • Cart-1
  • HNF-3beta
  • HOXA3
  • IRF-1
  • IRF-2
  • POU2F1
  • POU2F1a
  • USF1

Genomic Locations for ELP3 Gene

Genomic Locations for ELP3 Gene
chr8:28,089,673-28,191,156
(GRCh38/hg38)
Size:
101,484 bases
Orientation:
Plus strand
chr8:27,947,190-28,048,673
(GRCh37/hg19)
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 ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. ELP1, STIP1/ELP2 and ELP3 form the Elongator core complex (PubMed:11714725, PubMed:11818576, PubMed:22854966). Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit (PubMed:11714725, PubMed:11818576, PubMed:22854966). Interacts with 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; 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 Lys34, Lys48, Lys206, Lys333, Lys338, and Lys392
  • Modification sites at PhosphoSitePlus

Domains & Families for ELP3 Gene

Gene Families for ELP3 Gene

Protein Domains for ELP3 Gene

InterPro:
Blocks:
  • GCN5-related N-acetyltransferase
  • Elongator protein 3/MiaB/NifB
ProtoNet:

Suggested Antigen Peptide Sequences for ELP3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ78884, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA (B4DE19_HUMAN)
  • cDNA FLJ58185, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA (B4DIG1_HUMAN)
  • cDNA, FLJ78952, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA (B4DKA4_HUMAN)
  • cDNA FLJ58642, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA (B4DXV1_HUMAN)
  • Elongator complex protein 3 (ELP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9T3

UniProtKB/Swiss-Prot:

ELP3_HUMAN :
  • Belongs to the ELP3 family.
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 Function:
Catalytic tRNA 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 (PubMed:11714725, PubMed:11818576, PubMed:15902492, PubMed:16713582). The elongator complex is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29415125). In the elongator complex, acts as a tRNA uridine(34) acetyltransferase by mediating formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (By similarity). May also act as a protein lysine acetyltransferase by mediating acetylation of target proteins; such activity is however unclear in vivo and recent evidences suggest that ELP3 primarily acts as a tRNA acetyltransferase (PubMed:29415125). Involved in neurogenesis: regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (PubMed:19185337). Required for acetylation of GJA1 in the developing cerebral cortex (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + H2O + S-adenosyl-L-methionine + uridine(34) in tRNA = 5'-deoxyadenosine + carboxymethyluridine(34) in tRNA + CoA + 2 H(+) + L-methionine; Xref=Rhea:RHEA:61020, Rhea:RHEA-COMP:10407, Rhea:RHEA-COMP:11727, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17319, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57844, ChEBI:CHEBI:59789, ChEBI:CHEBI:65315, ChEBI:CHEBI:74882; Evidence={ECO:0000250|UniProtKB:D5VRB9};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L-lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; Evidence={ECO:0000305|PubMed:19185337};.

Enzyme Numbers (IUBMB) for ELP3 Gene

Phenotypes From GWAS Catalog for ELP3 Gene

Gene Ontology (GO) - Molecular Function for ELP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0003824 catalytic 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP3

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. Nucleus.
[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
cytosol 5
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ELP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005730 nucleolus IDA 11714725
GO:0005737 cytoplasm IBA,IDA 11714725
GO:0005829 cytosol IDA --
GO:0033588 Elongator holoenzyme complex IBA,IDA 22854966
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

UniProtKB/Swiss-Prot Q9H9T3-ELP3_HUMAN

  • Pathway: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.

Gene Ontology (GO) - Biological Process for ELP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0002926 tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation TAS 29332244
GO:0006357 regulation of transcription by RNA polymerase II IDA 11818576
GO:0007399 nervous system development IEA --
GO:0007417 central nervous system development ISS --
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

(1) Drugs for ELP3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with ELP3: view

Transcripts for ELP3 Gene

mRNA/cDNA for ELP3 Gene

6 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP3

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

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, MaxQB, and MOPED for ELP3 Gene



Protein tissue co-expression partners for ELP3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ELP3 Gene

  • Nervous system(4.9)
  • Thyroid gland(4.2)
  • Liver(2.2)
  • Muscle(2.2)
  • Kidney(2.1)
  • Skin(2)
  • Heart(2)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ELP3 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ELP3 30 31
  • 93.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELP3 30 31
  • 90.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Elp3 30 17 31
  • 88.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100362548 30
  • 87.81 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ELP3 31
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELP3 30 31
  • 79.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELP3 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elp3 30
  • 77.39 (n)
Str.4002 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16750 30
Zebrafish
(Danio rerio)
Actinopterygii elp3 30 31
  • 75.84 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008300 30
  • 68.15 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Elp3 30 31
  • 67.4 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea elpc-3 30 31
  • 66.79 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELP3 30 31 33 33
  • 65.68 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23937g 30
  • 64.77 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR201C 30
  • 63.24 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ELO3 30
  • 65.55 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11376 30
Soybean
(Glycine max)
eudicotyledons Gma.5381 30
Rice
(Oryza sativa)
Liliopsida Os04g0484900 30
  • 64.13 (n)
Os.17516 30
Barley
(Hordeum vulgare)
Liliopsida Hv.9544 30
Wheat
(Triticum aestivum)
Liliopsida Ta.28825 30
Corn
(Zea mays)
Liliopsida Zm.4959 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 80 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes elp3 30
  • 65.11 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01229 30
  • 63.18 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1228 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for ELP3: view image

Paralogs for ELP3 Gene

No data available for Paralogs for ELP3 Gene

Variants for ELP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELP3 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
776307 Benign: not provided 28,099,858(+) C/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
776308 Benign: not provided 28,160,288(+) C/T SYNONYMOUS_VARIANT
873300 Uncertain Significance: Amyotrophic lateral sclerosis 28,160,356(+) G/A MISSENSE_VARIANT
rs764649021 Not Provided: not provided 28,129,568(+) GA/G FRAMESHIFT_VARIANT
rs764954376 Not Provided: not provided 28,132,391(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ELP3 Gene

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

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

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)

Additional Variant Information for ELP3 Gene

Human Gene Mutation Database (HGMD)
ELP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELP3

SNP Genotyping and Copy Number Assay Products

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

Disorders for ELP3 Gene

MalaCards: The human disease database

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

- 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
  • Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:18996918, ECO:0000305 PubMed:29415125}. Note=The gene represented in this entry may act as a disease modifier.

Additional Disease Information for ELP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 CL … Al-Chalabi A (Human molecular genetics 2009) 3 4 41
  2. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes NA … Svejstrup JQ (The Journal of biological chemistry 2002) 2 3 4
  3. DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. (PMID: 22854966) Close P … Chariot A (The Journal of biological chemistry 2012) 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 biochimica et biophysica Sinica 2007) 3 23

Products for ELP3 Gene

Sources for ELP3 Gene