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ELP3 (elongator acetyltransferase complex subunit 3)

Identity

Alias (NCBI)KAT9
HGNC (Hugo) ELP3
HGNC Alias symbFLJ10422
KAT9
HGNC Previous nameelongation protein 3 homolog (S. cerevisiae)
LocusID (NCBI) 55140
Atlas_Id 54282
Location 8p21.1  [Link to chromosome band 8p21]
Location_base_pair Starts at 28093139 and ends at 28191152 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ELP3 (8p21.1)::RBPMS (8p12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ELP3   20696
Cards
Entrez_Gene (NCBI)ELP3    elongator acetyltransferase complex subunit 3
AliasesKAT9
GeneCards (Weizmann)ELP3
Ensembl hg19 (Hinxton)ENSG00000134014 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134014 [Gene_View]  ENSG00000134014 [Sequence]  chr8:28093139-28191152 [Contig_View]  ELP3 [Vega]
ICGC DataPortalENSG00000134014
TCGA cBioPortalELP3
AceView (NCBI)ELP3
Genatlas (Paris)ELP3
SOURCE (Princeton)ELP3
Genetics Home Reference (NIH)ELP3
Genomic and cartography
GoldenPath hg38 (UCSC)ELP3  -     chr8:28093139-28191152 +  8p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELP3  -     8p21.1   [Description]    (hg19-Feb_2009)
GoldenPathELP3 - 8p21.1 [CytoView hg19]  ELP3 - 8p21.1 [CytoView hg38]
ImmunoBaseENSG00000134014
Genome Data Viewer NCBIELP3 [Mapview hg19]  
OMIM612722   
Gene and transcription
Genbank (Entrez)AK001284 AK022626 AK223047 AK293424 AK295574
RefSeq transcript (Entrez)NM_001284220 NM_001284222 NM_001284224 NM_001284225 NM_001284226 NM_018091
Consensus coding sequences : CCDS (NCBI)ELP3
Gene ExpressionELP3 [ NCBI-GEO ]   ELP3 [ EBI - ARRAY_EXPRESS ]   ELP3 [ SEEK ]   ELP3 [ MEM ]
Gene Expression Viewer (FireBrowse)ELP3 [ Firebrowse - Broad ]
GenevisibleExpression of ELP3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55140
GTEX Portal (Tissue expression)ELP3
Human Protein AtlasENSG00000134014-ELP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9T3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H9T3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H9T3
PhosPhoSitePlusQ9H9T3
Domaine pattern : Prosite (Expaxy)GNAT (PS51186)    RADICAL_SAM (PS51918)   
Domains : Interpro (EBI)Acyl_CoA_acyltransferase    ELP3    ELP3-like    Elp3/MiaB/NifB    GNAT_dom    Radical_SAM_C    rSAM    rSAM_horseshoe   
Domain families : Pfam (Sanger)Acetyltransf_1 (PF00583)    Radical_SAM (PF04055)    Radical_SAM_C (PF16199)   
Domain families : Pfam (NCBI)pfam00583    pfam04055    pfam16199   
Domain families : Smart (EMBL)Elp3 (SM00729)  
Conserved Domain (NCBI)ELP3
SuperfamilyQ9H9T3
AlphaFold pdb e-kbQ9H9T3   
Human Protein Atlas [tissue]ENSG00000134014-ELP3 [tissue]
HPRD10936
Protein Interaction databases
DIP (DOE-UCLA)Q9H9T3
IntAct (EBI)Q9H9T3
BioGRIDELP3
STRING (EMBL)ELP3
ZODIACELP3
Ontologies - Pathways
QuickGOQ9H9T3
Ontology : AmiGOtRNA binding  neuron migration  tRNA wobble uridine modification  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  protein binding  nucleus  nucleolus  cytoplasm  cytoplasm  cytosol  regulation of transcription by RNA polymerase II  central nervous system development  N-acetyltransferase activity  phosphorylase kinase regulator activity  acetyltransferase activity  positive regulation of cell migration  elongator holoenzyme complex  elongator holoenzyme complex  regulation of protein kinase activity  metal ion binding  4 iron, 4 sulfur cluster binding  tRNA uridine(34) acetyltransferase activity  
Ontology : EGO-EBItRNA binding  neuron migration  tRNA wobble uridine modification  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  protein binding  nucleus  nucleolus  cytoplasm  cytoplasm  cytosol  regulation of transcription by RNA polymerase II  central nervous system development  N-acetyltransferase activity  phosphorylase kinase regulator activity  acetyltransferase activity  positive regulation of cell migration  elongator holoenzyme complex  elongator holoenzyme complex  regulation of protein kinase activity  metal ion binding  4 iron, 4 sulfur cluster binding  tRNA uridine(34) acetyltransferase activity  
NDEx NetworkELP3
Atlas of Cancer Signalling NetworkELP3
Wikipedia pathwaysELP3
Orthology - Evolution
OrthoDB55140
GeneTree (enSembl)ENSG00000134014
Phylogenetic Trees/Animal Genes : TreeFamELP3
Homologs : HomoloGeneELP3
Homology/Alignments : Family Browser (UCSC)ELP3
Gene fusions - Rearrangements
Fusion : MitelmanELP3::RBPMS [8p21.1/8p12]  
Fusion : QuiverELP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELP3
dbVarELP3
ClinVarELP3
MonarchELP3
1000_GenomesELP3 
Exome Variant ServerELP3
GNOMAD BrowserENSG00000134014
Varsome BrowserELP3
ACMGELP3 variants
VarityQ9H9T3
Genomic Variants (DGV)ELP3 [DGVbeta]
DECIPHERELP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELP3 
Mutations
ICGC Data PortalELP3 
TCGA Data PortalELP3 
Broad Tumor PortalELP3
OASIS PortalELP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELP3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DELP3
Mutations and Diseases : HGMDELP3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaELP3
DgiDB (Drug Gene Interaction Database)ELP3
DoCM (Curated mutations)ELP3
CIViC (Clinical Interpretations of Variants in Cancer)ELP3
Cancer3DELP3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612722   
Orphanet
DisGeNETELP3
MedgenELP3
Genetic Testing Registry ELP3
NextProtQ9H9T3 [Medical]
GENETestsELP3
Target ValidationELP3
Huge Navigator ELP3 [HugePedia]
ClinGenELP3
Clinical trials, drugs, therapy
MyCancerGenomeELP3
Protein Interactions : CTDELP3
Pharm GKB GenePA134992603
PharosQ9H9T3
Clinical trialELP3
Miscellaneous
canSAR (ICR)ELP3
HarmonizomeELP3
ARCHS4ELP3
DataMed IndexELP3
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXELP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:23:13 CET 2022

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