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ELP3 Gene

protein-coding   GIFtS: 59
GCID: GC08P027947

Elongator Acetyltransferase Complex Subunit 3

(Previous name: elongation protein 3 homolog (S. cerevisiae))
  See ELP3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Elongator Acetyltransferase Complex Subunit 31 2     Elongation Protein 3 Homolog2
EC 2.3.1.483 8     Elongator Complex Protein 32
KAT92 5     hELP33
Elongation Protein 3 Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 206961   Entrez Gene: 551402   Ensembl: ENSG000001340147   OMIM: 6127225   UniProtKB: Q9H9T33   

Export aliases for ELP3 gene to outside databases

Previous GC identifers: GC08P027733 GC08P028455 GC08P027972 GC08P028006 GC08P026496


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 riley-day syndrome. GO annotations related to this gene include histone acetyltransferase activity and phosphorylase kinase regulator activity.

UniProtKB/Swiss-Prot: ELP3_HUMAN, Q9H9T3
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. May also
have a methyltransferase activity. Involved in cell migration

Gene Wiki entry for ELP3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ELP3 gene promoter:
         USF1   HOXA3   IRF-1   HNF-3beta   IRF-2   POU2F1   POU2F1a   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidELP3 promoter sequence
   Search Chromatin IP Primers for ELP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ELP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.1   Ensembl cytogenetic band:  8p21.1   HGNC cytogenetic band: 8p21.1

ELP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ELP3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P027947:  view genomic region     (about GC identifiers)

Start:
27,947,190 bp from pter      End:
28,048,673 bp from pter
Size:
101,484 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ELP3_HUMAN, Q9H9T3 (See protein sequence)
Recommended Name: Elongator complex protein 3  
Size: 547 amino acids; 62259 Da
Cofactor: Binds 1 4Fe-4S cluster. The cluster is coordinated with 3 cysteines and an exchangeable
S-adenosyl-L-methionine (By similarity)
Subunit: 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
Sequence caution: Sequence=BAA91600.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=CAH10573.1; Type=Frameshift; Positions=279;
Secondary accessions: Q53G84 Q6AWB0 Q9BVF7 Q9NVZ1
Alternative splicing: 2 isoforms:  Q9H9T3-1   Q9H9T3-2   

Explore the universe of human proteins at neXtProt for ELP3: NX_Q9H9T3

Explore proteomics data for ELP3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys34, Lys48, Lys206, Lys333, Lys338, Lys392
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ELP3 (Q9H9T3) (see all 23)
     FENPAFR  PKLKAKP  ERDIEQF  KRHLSDML 


    See ELP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001271149.1  NP_001271151.1  NP_001271153.1  NP_001271154.1  NP_001271155.1  NP_060561.3  

    ENSEMBL proteins: 
     ENSP00000429446   ENSP00000428449   ENSP00000428532   ENSP00000256398   ENSP00000430253  
     ENSP00000429180   ENSP00000429465   ENSP00000428357   ENSP00000429248   ENSP00000429573  
     ENSP00000427833   ENSP00000430942   ENSP00000369711   ENSP00000445558   ENSP00000439242  
    Reactome Protein details: Q9H9T3

    ELP3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals ELP3 Protein
    Novus Biologicals ELP3 Lysates
    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for ELP3

     
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    ELP3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Search eBioscience for ELISAs for ELP3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ELP: Elongator acetyltransferase complex subunits
    KAT: Chromatin-modifying enzymes / K-acetyltransferases

    Selected InterPro protein domains (see all 6):
     IPR000182 GNAT_dom
     IPR007197 rSAM
     IPR016181 Acyl_CoA_acyltransferase
     IPR006638 Elp3/MiaB/NifB
     IPR005910 Hist_AcTrfase_ELP3

    Graphical View of Domain Structure for InterPro Entry Q9H9T3

    ProtoNet protein and cluster: Q9H9T3

    2 Blocks protein domains:
    IPB000182 GCN5-related N-acetyltransferase
    IPB006638 Elongator protein 3/MiaB/NifB


    UniProtKB/Swiss-Prot: ELP3_HUMAN, Q9H9T3
    Similarity: Belongs to the ELP3 family
    Similarity: Contains 1 N-acetyltransferase domain


    Find genes that share domains with ELP3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ELP3_HUMAN, Q9H9T3
    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. May also
    have a methyltransferase activity. Involved in cell migration
    Catalytic activity: Acetyl-CoA + [histone] = CoA + acetyl-[histone]

         Enzyme Number (IUBMB): EC 2.3.1.481 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677contributes to DNA binding IDA11714725
    GO:0003824catalytic activity ----
    GO:0004402histone acetyltransferase activity IEA--
    GO:0005515protein binding IPI11714725
    GO:0008080N-acetyltransferase activity ----
         
    Find genes that share ontologies with ELP3           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Elp3 (no phenotypes)

    Find genes that share phenotypes with ELP3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ELP3
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    miRNA
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    miRTarBase miRNAs that target ELP3:
    hsa-mir-16-5p (MIRT031429), hsa-mir-193b-3p (MIRT041378), hsa-mir-342-5p (MIRT038216)

    Block miRNA regulation of human, mouse, rat ELP3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ELP3:
    hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidELP3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ELP3

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    GenScript: all cDNA clones in your preferred vector: ELP3 (NM_018091)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELP3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELP3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ELP3_HUMAN, Q9H9T3: Isoform 1: Nucleus
    ELP3_HUMAN, Q9H9T3: Isoform 2: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    peroxisome2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA11714725
    GO:0005737cytoplasm IDA--
    GO:0008023transcription elongation factor complex IDA11714725
    GO:0016591DNA-directed RNA polymerase II, holoenzyme IDA11714725
    GO:0033588Elongator holoenzyme complex IDA--

    Find genes that share ontologies with ELP3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ELP3 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with ELP3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ELP3
        Chromatin Regulation / Acetylation

    1 Reactome Pathway for ELP3
        HATs acetylate histones


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ELP3
    Interactions:

        Search GeneGlobe Interaction Network for ELP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ELP3 (Q9H9T31, 3 ENSP000002563984) via UniProtKB, MINT, STRING, and/or I2D (see all 432)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKAPO951631, 3, ENSP000003637794EBI-355217,EBI-347559 I2D: score=8 STRING: ENSP00000363779
    ENSG00000221974Q927593I2D: score=1 
    ENSG00000226384Q927593I2D: score=1 
    ENSG00000233149Q927593I2D: score=1 
    ENSG00000234370Q927593I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization TAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS11714725
    GO:0006368transcription elongation from RNA polymerase II promoter IDA11714725
    GO:0030335positive regulation of cell migration ISS--
    GO:0045859regulation of protein kinase activity IDA11818576

    Find genes that share ontologies with ELP3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ELP3

    3 HMDB Compounds for ELP3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ELP3 gene (6 alternative transcripts): 
    NM_001284220.1  NM_001284222.1  NM_001284224.1  NM_001284225.1  NM_001284226.1  NM_018091.5  

    Unigene Cluster for ELP3:

    Elongator acetyltransferase complex subunit 3
    Hs.491336  [show with all ESTs]
    Unigene Representative Sequence: NM_018091
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000520270 ENST00000521015(uc003xgn.4) ENST00000521570 ENST00000256398(uc003xgo.4 uc011laq.2 uc011lar.2 uc011las.2 uc011lat.2)
    ENST00000523687 ENST00000523760 ENST00000524103 ENST00000518112 ENST00000519261
    ENST00000521938 ENST00000520288 ENST00000521099 ENST00000522063 ENST00000520110
    ENST00000520011 ENST00000523357 ENST00000517975 ENST00000380353
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    1 qRT-PCR Assays for microRNA that regulate ELP3:
    hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidELP3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ELP3 (NM_018091)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELP3
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ELP3
      QuantiTect SYBR Green Assays in human, mouse, rat ELP3
      QuantiFast Probe-based Assays in human, mouse, rat ELP3

    Additional mRNA sequence: 

    AK001284.1 AK022626.1 AK223047.1 AK293424.1 AK295574.1 AK296475.1 AK298265.1 AK302140.1 
    AK315985.1 AK316053.1 AL834273.1 BC001240.1 BX648011.1 

    13 DOTS entries:

    DT.454535  DT.100811712  DT.101983588  DT.100811719  DT.100802493  DT.121480432  DT.95288288  DT.97861876 
    DT.97776032  DT.86839177  DT.86855236  DT.97810312  DT.97822259 

    Selected AceView cDNA sequences (see all 214):

    AW768480 AI873954 BP378418 AA411348 BM564671 AA337527 AA922599 AL834273 
    BM824411 AL583134 CN485156 BX390272 BU632220 BQ440313 CK818972 BC001240 
    BX280249 AI288057 BG400610 AA336555 AA926958 CB216924 AA580821 AI276839 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ELP3 (see all 6)    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for ELP3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ELP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATAAAACT
    ELP3 Expression
    About this image

    ELP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ELP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491336
        Custom PCR Arrays for ELP3
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ELP3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELP3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ELP3 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Elp31 , 5 elongation protein 3 homolog (S. cerevisiae)5
    elongator acetyltransferase complex subunit 31
    88.06(n)1
    95.8(a)1
      14 (34.33 cM)5
    741951  NM_028811.31  NP_083087.11 
     655304465 
    chicken
    (Gallus gallus)
    Aves ELP31 elongation protein 3 homolog (S. cerevisiae) 79.24(n)
    91.58(a)
      422021  NM_001039293.1  NP_001034382.1 
    lizard
    (Anolis carolinensis)
    Reptilia ELP36
    elongator acetyltransferase complex subunit 3
    91(a)
    1 ↔ 1
    GL343529.1(139518-291274)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.167502 Xenopus laevis transcribed sequence with moderate similarity more 77.43(n)    BU913269.1 
    zebrafish
    (Danio rerio)
    Actinopterygii elp31 elongation protein 3 homolog (S. cerevisiae) 75.84(n)
    90.46(a)
      541509  NM_001014322.2  NP_001014344.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Elp31 Elongator complex protein 3 67.4(n)
    82.63(a)
      33649  NM_134990.3  NP_608834.1 
    worm
    (Caenorhabditis elegans)
    Secernentea elpc-31 elpc-3 66.79(n)
    80.49(a)
      179669  NM_073654.4  NP_506055.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ELP3(YPL086C)4
    ELP31
    Subunit of Elongator complex, which is required for more4
    ELP31
    65.68(n)1
    75.23(a)1
      16(386446-384773)4
    8560191, 4  NP_015239.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ELO31 ELO3 65.55(n)
    73.98(a)
      835098  NM_124412.2  NP_568725.1 
    rice
    (Oryza sativa)
    Liliopsida Os.175162 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.94(n)    AK122179.1 


    ENSEMBL Gene Tree for ELP3 (if available)
    TreeFam Gene Tree for ELP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ELP3 (see all 1986)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910493871,2
    C--27948644(+) GGTCTC/TGATCT 1 -- us2k10--------
    rs1476018151,2
    --27948665(+) TGATCC/TGCCCA 1 -- us2k10--------
    rs1818017001,2
    --27948722(+) CCGGCC/TGTAAA 1 -- us2k10--------
    rs1861658241,2
    --27948894(+) AGTTTA/GACTTT 1 -- us2k10--------
    rs1917359661,2
    --27949027(+) TAGCAA/GGGCCA 1 -- us2k10--------
    rs791081531,2
    F--27949049(+) ATAGTG/AGGGTC 1 -- us2k14Minor allele frequency- A:0.03CSA WA NA EA 359
    rs1171281371,2
    C--27949095(+) ATATTC/ACTGTC 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs797200801,2
    F--27949195(+) AAATTT/CTGCAA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs736691841,2
    C,F--27949418(+) CAACTA/GTGCAT 1 -- us2k12Minor allele frequency- G:0.17WA 120
    rs285070201,2
    C,F--27949459(+) CAGAAG/CACAAA 1 -- us2k11Minor allele frequency- C:0.18WA 118

    HapMap Linkage Disequilibrium report for ELP3 (27947190 - 28048673 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ELP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv994772CNV Insertion20482838
    nsv398063CNV Insertion16902084
    nsv890701CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ELP3
    DNA2.0 Custom Variant and Variant Library Synthesis for ELP3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612722    OMIM disorders: --

    1 disease for ELP3:    
    About MalaCards
    riley-day syndrome

    1 disease from the University of Copenhagen DISEASES database for ELP3:
    Riley-Day syndrome

    Find genes that share disorders with ELP3           About GenesLikeMe

    Genetic Association Database (GAD): ELP3
    Human Genome Epidemiology (HuGE) Navigator: ELP3 (2 documents)

    Export disorders for ELP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ELP3 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with ELP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and characterization of the human elongator complex. (PubMed id 11714725)1, 2, 3 Hawkes N.A.... Svejstrup J.Q. (J. Biol. Chem. 2002)
    2. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. (PubMed id 18996918)1, 4 Simpson C.L....Al-Chalabi A. (Hum. Mol. Genet. 2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Human Elongator facilitates RNA polymerase II transcription through chromatin. (PubMed id 11818576)1, 2 Kim J.H.... Reinberg D. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. hELP3 subunit of the Elongator complex regulates the transcription of HSP70 gene in human cells. (PubMed id 17558451)1, 9 Han Q....Lu J. (Acta Biochim. Biophys. Sin. (Shanghai) 2007)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    8. DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. (PubMed id 22854966)2 Close P....Chariot A. (J. Biol. Chem. 2012)
    9. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1 Stehling O.... Lill R. (Science 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55140 HGNC: 20696 AceView: ELP3 Ensembl:ENSG00000134014 euGenes: HUgn55140
    ECgene: ELP3 H-InvDB: ELP3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ELP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ELP3 gene:
    Search GeneIP for patents involving ELP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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