Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ELP1 (elongator acetyltransferase complex subunit 1)

Identity

Alias (NCBI)DYS
FD
IKAP
IKBKAP
IKI3
TOT1
HGNC (Hugo) ELP1
HGNC Alias symbIKAP
TOT1
IKI3
HGNC Previous nameDYS
 IKBKAP
HGNC Previous namedysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)
 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
 elongator complex protein 1
LocusID (NCBI) 8518
Atlas_Id 56907
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 108867517 and ends at 108934124 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)
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



External links

 

Nomenclature
HGNC (Hugo)ELP1   5959
LRG (Locus Reference Genomic)LRG_251
Cards
Entrez_Gene (NCBI)ELP1    elongator acetyltransferase complex subunit 1
AliasesDYS; FD; IKAP; IKBKAP; 
IKI3; TOT1
GeneCards (Weizmann)ELP1
Ensembl hg19 (Hinxton)ENSG00000070061 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070061 [Gene_View]  ENSG00000070061 [Sequence]  chr9:108867517-108934124 [Contig_View]  ELP1 [Vega]
ICGC DataPortalENSG00000070061
TCGA cBioPortalELP1
AceView (NCBI)ELP1
Genatlas (Paris)ELP1
SOURCE (Princeton)ELP1
Genetics Home Reference (NIH)ELP1
Genomic and cartography
GoldenPath hg38 (UCSC)ELP1  -     chr9:108867517-108934124 -  9q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELP1  -     9q31.3   [Description]    (hg19-Feb_2009)
GoldenPathELP1 - 9q31.3 [CytoView hg19]  ELP1 - 9q31.3 [CytoView hg38]
ImmunoBaseENSG00000070061
Genome Data Viewer NCBIELP1 [Mapview hg19]  
OMIM223900   603722   
Gene and transcription
Genbank (Entrez)AB210033 AF044195 AF153419 AI219443 AK001641
RefSeq transcript (Entrez)NM_001318360 NM_001330749 NM_003640
Consensus coding sequences : CCDS (NCBI)ELP1
Gene ExpressionELP1 [ NCBI-GEO ]   ELP1 [ EBI - ARRAY_EXPRESS ]   ELP1 [ SEEK ]   ELP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELP1 [ Firebrowse - Broad ]
GenevisibleExpression of ELP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8518
GTEX Portal (Tissue expression)ELP1
Human Protein AtlasENSG00000070061-ELP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95163   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95163  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95163
PhosPhoSitePlusO95163
Domains : Interpro (EBI)Elp1    WD40/YVTN_repeat-like_dom_sf   
Domain families : Pfam (Sanger)IKI3 (PF04762)   
Domain families : Pfam (NCBI)pfam04762   
Conserved Domain (NCBI)ELP1
PDB (RSDB)5CQR   
PDB Europe5CQR   
PDB (PDBSum)5CQR   
PDB (IMB)5CQR   
Structural Biology KnowledgeBase5CQR   
SCOP (Structural Classification of Proteins)5CQR   
CATH (Classification of proteins structures)5CQR   
SuperfamilyO95163
AlphaFold pdb e-kbO95163   
Human Protein Atlas [tissue]ENSG00000070061-ELP1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O95163
IntAct (EBI)O95163
BioGRIDELP1
STRING (EMBL)ELP1
ZODIACELP1
Ontologies - Pathways
QuickGOO95163
Ontology : AmiGOtRNA binding  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  protein binding  nucleus  cytoplasm  cytosol  cytosol  elongator holoenzyme complex  elongator holoenzyme complex  
Ontology : EGO-EBItRNA binding  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  protein binding  nucleus  cytoplasm  cytosol  cytosol  elongator holoenzyme complex  elongator holoenzyme complex  
NDEx NetworkELP1
Atlas of Cancer Signalling NetworkELP1
Wikipedia pathwaysELP1
Orthology - Evolution
OrthoDB8518
GeneTree (enSembl)ENSG00000070061
Phylogenetic Trees/Animal Genes : TreeFamELP1
Homologs : HomoloGeneELP1
Homology/Alignments : Family Browser (UCSC)ELP1
Gene fusions - Rearrangements
Fusion : QuiverELP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELP1
dbVarELP1
ClinVarELP1
MonarchELP1
1000_GenomesELP1 
Exome Variant ServerELP1
GNOMAD BrowserENSG00000070061
Varsome BrowserELP1
ACMGELP1 variants
VarityO95163
Genomic Variants (DGV)ELP1 [DGVbeta]
DECIPHERELP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELP1 
Mutations
ICGC Data PortalELP1 
TCGA Data PortalELP1 
Broad Tumor PortalELP1
OASIS PortalELP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DELP1
Mutations and Diseases : HGMDELP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaELP1
DgiDB (Drug Gene Interaction Database)ELP1
DoCM (Curated mutations)ELP1
CIViC (Clinical Interpretations of Variants in Cancer)ELP1
Cancer3DELP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM223900    603722   
Orphanet
DisGeNETELP1
MedgenELP1
Genetic Testing Registry ELP1
NextProtO95163 [Medical]
GENETestsELP1
Target ValidationELP1
Huge Navigator ELP1 [HugePedia]
ClinGenELP1
Clinical trials, drugs, therapy
MyCancerGenomeELP1
Protein Interactions : CTDELP1
Pharm GKB GenePA29775
PharosO95163
Clinical trialELP1
Miscellaneous
canSAR (ICR)ELP1
HarmonizomeELP1
DataMed IndexELP1
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXELP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:08:05 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.