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
ID:ELP3_HUMAN DESCRIPTION: RecName: Full=Elongator complex protein 3; Short=hELP3; EC=184.108.40.206; 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
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.
ModBase Predicted Comparative 3D Structure on Q9H9T3
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.