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ELP1 (elongator complex protein 1)

Identity

Other aliasDYS
FD
IKAP
IKBKAP
IKI3
TOT1
HGNC (Hugo) ELP1
LocusID (NCBI) 8518
Atlas_Id 56907
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 108867520 and ends at 108934332 bp from pter ( according to hg38-Dec_2013)
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
Cards
Entrez_Gene (NCBI)ELP1  8518  elongator complex protein 1
AliasesDYS; FD; IKAP; IKBKAP; 
IKI3; TOT1
GeneCards (Weizmann)ELP1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr9:108867520-108934332 [Contig_View]  ELP1 [Vega]
TCGA cBioPortalELP1
AceView (NCBI)ELP1
Genatlas (Paris)ELP1
WikiGenes8518
SOURCE (Princeton)ELP1
Genetics Home Reference (NIH)ELP1
Genomic and cartography
GoldenPath hg38 (UCSC)ELP1  -     chr9:108867520-108934332 -  9q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELP1  -     9q31.3   [Description]    (hg19-Feb_2009)
EnsemblELP1 - 9q31.3 [CytoView hg19]  ELP1 - 9q31.3 [CytoView hg38]
Mapping of homologs : NCBIELP1 [Mapview hg19]  ELP1 [Mapview hg38]
OMIM223900   603722   
Gene and transcription
Genbank (Entrez)AB210033 AF044195 AF153419 AI219443 AK001641
RefSeq transcript (Entrez)NM_001318360 NM_001330749 NM_003640
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELP1
Cluster EST : UnigeneHs.494738 [ NCBI ]
CGAP (NCI)Hs.494738
Gene ExpressionELP1 [ NCBI-GEO ]   ELP1 [ EBI - ARRAY_EXPRESS ]   ELP1 [ SEEK ]   ELP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8518
GTEX Portal (Tissue expression)ELP1
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
Splice isoforms : SwissVarO95163
PhosPhoSitePlusO95163
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like    Iki3   
Domain families : Pfam (Sanger)IKI3 (PF04762)   
Domain families : Pfam (NCBI)pfam04762   
Conserved Domain (NCBI)ELP1
DMDM Disease mutations8518
Blocks (Seattle)ELP1
PDB (SRS)5CQR   
PDB (PDBSum)5CQR   
PDB (IMB)5CQR   
PDB (RSDB)5CQR   
Structural Biology KnowledgeBase5CQR   
SCOP (Structural Classification of Proteins)5CQR   
CATH (Classification of proteins structures)5CQR   
SuperfamilyO95163
Peptide AtlasO95163
IPIIPI00293735   IPI00981273   
Protein Interaction databases
DIP (DOE-UCLA)O95163
IntAct (EBI)O95163
BioGRIDELP1
STRING (EMBL)ELP1
ZODIACELP1
Ontologies - Pathways
QuickGOO95163
Ontology : AmiGOhistone acetyltransferase complex  RNA polymerase II core binding  tRNA wobble uridine modification  signal transducer activity  protein binding  nucleolus  cytoplasm  cytosol  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  protein complex assembly  protein phosphorylation  immune response  signal transduction  transcription elongation factor complex  phosphorylase kinase regulator activity  positive regulation of cell migration  Elongator holoenzyme complex  regulation of protein kinase activity  
Ontology : EGO-EBIhistone acetyltransferase complex  RNA polymerase II core binding  tRNA wobble uridine modification  signal transducer activity  protein binding  nucleolus  cytoplasm  cytosol  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  protein complex assembly  protein phosphorylation  immune response  signal transduction  transcription elongation factor complex  phosphorylase kinase regulator activity  positive regulation of cell migration  Elongator holoenzyme complex  regulation of protein kinase activity  
Pathways : BIOCARTACD40L Signaling Pathway [Genes]    TNFR2 Signaling Pathway [Genes]   
NDEx NetworkELP1
Atlas of Cancer Signalling NetworkELP1
Wikipedia pathwaysELP1
Orthology - Evolution
OrthoDB8518
Phylogenetic Trees/Animal Genes : TreeFamELP1
HOVERGENO95163
HOGENOMO95163
Homologs : HomoloGeneELP1
Homology/Alignments : Family Browser (UCSC)ELP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELP1
dbVarELP1
ClinVarELP1
1000_GenomesELP1 
Exome Variant ServerELP1
ExAC (Exome Aggregation Consortium)ELP1 (select the gene name)
Genetic variants : HAPMAP8518
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]
Mutations and Diseases : HGMDELP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ELP1
DgiDB (Drug Gene Interaction Database)ELP1
DoCM (Curated mutations)ELP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELP1 (select a term)
intoGenELP1
Cancer3DELP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM223900    603722   
Orphanet
MedgenELP1
Genetic Testing Registry ELP1
NextProtO95163 [Medical]
TSGene8518
GENETestsELP1
Target ValidationELP1
Huge Navigator ELP1 [HugePedia]
snp3D : Map Gene to Disease8518
BioCentury BCIQELP1
ClinGenELP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8518
Chemical/Pharm GKB GenePA29775
Clinical trialELP1
Miscellaneous
canSAR (ICR)ELP1 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELP1
EVEXELP1
GoPubMedELP1
iHOPELP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:06:52 CEST 2017

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