Human Gene ELP3 (uc011laq.2) Description and Page Index
  Description: Homo sapiens elongator acetyltransferase complex subunit 3 (ELP3), mRNA.
RefSeq Summary (NM_018091): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:27,950,584-28,048,669 Size: 98,086 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr8:27,957,442-28,047,242 Size: 89,801 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:27,950,584-28,048,669)mRNA (may differ from genome)Protein (475 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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H-INVHGNCHPRDLynxMGIneXtProt
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ELP3_HUMAN
DESCRIPTION: RecName: Full=Elongator complex protein 3; Short=hELP3; EC=2.3.1.48;
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].
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.
INTERACTION: O95163:IKBKAP; NbExp=4; IntAct=EBI-355217, EBI-347559;
SUBCELLULAR LOCATION: Isoform 1: Nucleus.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.
SIMILARITY: Belongs to the ELP3 family.
SIMILARITY: Contains 1 N-acetyltransferase domain.
SEQUENCE CAUTION: Sequence=BAA91600.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=CAH10573.1; Type=Frameshift; Positions=279;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ELP3
CDC HuGE Published Literature: ELP3
Positive Disease Associations: Asthma , Cholesterol , Schizophrenia , Waist Circumference
Related Studies:
  1. Asthma
    , , . [PubMed 0]
  2. Cholesterol
    , , . [PubMed 0]
  3. Schizophrenia
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ELP3
Diseases sorted by gene-association score: charcot-marie-tooth disease, type 2d (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.95 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 323.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.60264-0.339 Text
3' UTR -467.241427-0.327 Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016181 - Acyl_CoA_acyltransferase
IPR006638 - Elp3/MiaB/NifB
IPR000182 - GNAT_dom
IPR005910 - Hist_AcTrfase_ELP3
IPR007197 - rSAM
IPR023404 - rSAM_horseshoe

Pfam Domains:
PF00583 - Acetyltransferase (GNAT) family
PF04055 - Radical SAM superfamily
PF16199 - Radical_SAM C-terminal domain

SCOP Domains:
102114 - Radical SAM enzymes
55729 - Acyl-CoA N-acyltransferases (Nat)

ModBase Predicted Comparative 3D Structure on Q9H9T3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004402 histone acetyltransferase activity
GO:0005515 protein binding
GO:0008607 phosphorylase kinase regulator activity
GO:0010484 H3 histone acetyltransferase activity
GO:0010485 H4 histone acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0000993 RNA polymerase II core binding

Biological Process:
GO:0001764 neuron migration
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0007417 central nervous system development
GO:0030335 positive regulation of cell migration
GO:0043966 histone H3 acetylation
GO:0043967 histone H4 acetylation
GO:0045859 regulation of protein kinase activity

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0008023 transcription elongation factor complex
GO:0033588 Elongator holoenzyme complex


-  Descriptions from all associated GenBank mRNAs
  BX648011 - Homo sapiens mRNA; cDNA DKFZp686J0159 (from clone DKFZp686J0159).
LF210127 - JP 2014500723-A/17630: Polycomb-Associated Non-Coding RNAs.
AK302140 - Homo sapiens cDNA FLJ58642 complete cds, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA.
AK296475 - Homo sapiens cDNA FLJ58009 complete cds, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA.
AK022626 - Homo sapiens cDNA FLJ12564 fis, clone NT2RM4000833.
AK295574 - Homo sapiens cDNA FLJ58185 complete cds, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA.
AK001284 - Homo sapiens cDNA FLJ10422 fis, clone NT2RP1000243.
AK293424 - Homo sapiens cDNA FLJ57255 complete cds, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA.
AK315985 - Homo sapiens cDNA, FLJ78884 complete cds, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA.
AK316053 - Homo sapiens cDNA, FLJ78952 complete cds, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA.
LF334896 - JP 2014500723-A/142399: Polycomb-Associated Non-Coding RNAs.
BC001240 - Homo sapiens elongation protein 3 homolog (S. cerevisiae), mRNA (cDNA clone MGC:4939 IMAGE:3457039), complete cds.
AK298265 - Homo sapiens cDNA FLJ58601 complete cds, highly similar to Homo sapiens elongation protein 3 homolog (ELP3), mRNA.
AL834273 - Homo sapiens mRNA; cDNA DKFZp761L098 (from clone DKFZp761L098).
AB463602 - Synthetic construct DNA, clone: pF1KB8194, Homo sapiens ELP3 gene for elongation protein 3 homolog, without stop codon, in Flexi system.
AM392633 - Synthetic construct Homo sapiens clone IMAGE:100001763 for hypothetical protein (ELP3 gene).
AK223047 - Homo sapiens mRNA for elongation protein 3 homolog, clone: JTH14092.
LF334892 - JP 2014500723-A/142395: Polycomb-Associated Non-Coding RNAs.
LF334891 - JP 2014500723-A/142394: Polycomb-Associated Non-Coding RNAs.
LF334889 - JP 2014500723-A/142392: Polycomb-Associated Non-Coding RNAs.
LF334877 - JP 2014500723-A/142380: Polycomb-Associated Non-Coding RNAs.
LF334873 - JP 2014500723-A/142376: Polycomb-Associated Non-Coding RNAs.
LF334869 - JP 2014500723-A/142372: Polycomb-Associated Non-Coding RNAs.
LF334866 - JP 2014500723-A/142369: Polycomb-Associated Non-Coding RNAs.
LF334865 - JP 2014500723-A/142368: Polycomb-Associated Non-Coding RNAs.
LF334864 - JP 2014500723-A/142367: Polycomb-Associated Non-Coding RNAs.
LF334856 - JP 2014500723-A/142359: Polycomb-Associated Non-Coding RNAs.
LF334855 - JP 2014500723-A/142358: Polycomb-Associated Non-Coding RNAs.
JD154031 - Sequence 135055 from Patent EP1572962.
JD331178 - Sequence 312202 from Patent EP1572962.
JD480372 - Sequence 461396 from Patent EP1572962.
LF334854 - JP 2014500723-A/142357: Polycomb-Associated Non-Coding RNAs.
JD492946 - Sequence 473970 from Patent EP1572962.
JD289549 - Sequence 270573 from Patent EP1572962.
JD292858 - Sequence 273882 from Patent EP1572962.
JD088351 - Sequence 69375 from Patent EP1572962.
LF334853 - JP 2014500723-A/142356: Polycomb-Associated Non-Coding RNAs.
JD509405 - Sequence 490429 from Patent EP1572962.
LF334852 - JP 2014500723-A/142355: Polycomb-Associated Non-Coding RNAs.
JD186835 - Sequence 167859 from Patent EP1572962.
LF334851 - JP 2014500723-A/142354: Polycomb-Associated Non-Coding RNAs.
JD152010 - Sequence 133034 from Patent EP1572962.
JD461042 - Sequence 442066 from Patent EP1572962.
JD139687 - Sequence 120711 from Patent EP1572962.
JD450512 - Sequence 431536 from Patent EP1572962.
JD363208 - Sequence 344232 from Patent EP1572962.
JD352394 - Sequence 333418 from Patent EP1572962.
JD213390 - Sequence 194414 from Patent EP1572962.
JD463301 - Sequence 444325 from Patent EP1572962.
JD256855 - Sequence 237879 from Patent EP1572962.
JD213391 - Sequence 194415 from Patent EP1572962.
JD059921 - Sequence 40945 from Patent EP1572962.
JD365835 - Sequence 346859 from Patent EP1572962.
JD345447 - Sequence 326471 from Patent EP1572962.
JD176236 - Sequence 157260 from Patent EP1572962.
JD476955 - Sequence 457979 from Patent EP1572962.
JD416473 - Sequence 397497 from Patent EP1572962.
JD536316 - Sequence 517340 from Patent EP1572962.
JD091547 - Sequence 72571 from Patent EP1572962.
JD505340 - Sequence 486364 from Patent EP1572962.
JD075176 - Sequence 56200 from Patent EP1572962.
JD478946 - Sequence 459970 from Patent EP1572962.
JD564066 - Sequence 545090 from Patent EP1572962.
JD467664 - Sequence 448688 from Patent EP1572962.
JD504280 - Sequence 485304 from Patent EP1572962.
MA445704 - JP 2018138019-A/17630: Polycomb-Associated Non-Coding RNAs.
MA570473 - JP 2018138019-A/142399: Polycomb-Associated Non-Coding RNAs.
MA570469 - JP 2018138019-A/142395: Polycomb-Associated Non-Coding RNAs.
MA570468 - JP 2018138019-A/142394: Polycomb-Associated Non-Coding RNAs.
MA570466 - JP 2018138019-A/142392: Polycomb-Associated Non-Coding RNAs.
MA570454 - JP 2018138019-A/142380: Polycomb-Associated Non-Coding RNAs.
MA570450 - JP 2018138019-A/142376: Polycomb-Associated Non-Coding RNAs.
MA570446 - JP 2018138019-A/142372: Polycomb-Associated Non-Coding RNAs.
MA570443 - JP 2018138019-A/142369: Polycomb-Associated Non-Coding RNAs.
MA570442 - JP 2018138019-A/142368: Polycomb-Associated Non-Coding RNAs.
MA570441 - JP 2018138019-A/142367: Polycomb-Associated Non-Coding RNAs.
MA570433 - JP 2018138019-A/142359: Polycomb-Associated Non-Coding RNAs.
MA570432 - JP 2018138019-A/142358: Polycomb-Associated Non-Coding RNAs.
MA570431 - JP 2018138019-A/142357: Polycomb-Associated Non-Coding RNAs.
MA570430 - JP 2018138019-A/142356: Polycomb-Associated Non-Coding RNAs.
MA570429 - JP 2018138019-A/142355: Polycomb-Associated Non-Coding RNAs.
MA570428 - JP 2018138019-A/142354: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H9T3 (Reactome details) participates in the following event(s):

R-HSA-3301345 Elongator complex acetylates replicative histone H3, H4
R-HSA-3214847 HATs acetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: AK316053, ELP3_HUMAN, Q53G84, Q6AWB0, Q9BVF7, Q9H9T3, Q9NVZ1
UCSC ID: uc011laq.2
RefSeq Accession: NM_018091
Protein: Q9H9T3 (aka ELP3_HUMAN)
CCDS: CCDS64860.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK316053.1
exon count: 14CDS single in 3' UTR: no RNA size: 1866
ORF size: 1428CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 2861.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.