• Gene id: 55140

Gene Summary

• Gene Symbol: ELP3   Gene   UCSC   Ensembl
• Aliases: KAT9
• Gene name: elongator acetyltransferase complex subunit 3
• Alternate names: elongator complex protein 3, elongation protein 3 homolog, protein lysine acetyltransferase ELP3, tRNA uridine(34) acetyltransferase,
• Gene location: 8p21.1 (28090231: 28191152)     Exons: 18     NC_000008.11
• Gene summary(Entrez): 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]
• OMIM: 603063

Protein Summary

• Protein general information: Q9H9T3  
  • Name: Elongator complex protein 3 (hELP3) (Protein lysine acetyltransferase ELP3) (EC 2.3.1. ) (tRNA uridine(34) acetyltransferase) (EC 2.3.1. )
  • Length: 547  
  • Mass: 62259
  • Tissue specificity: Expressed in the cerebellum and spinal motor neurons. {ECO
• Sequence:

  MRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPK
  LKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRH
  RIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPD
  YCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQ
  FTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVS
  SGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQVELVRRDYVANGGWETFLSYEDPDQDILIGL
  LRLRKCSEETFRFELGGGVSIVRELHVYGSVVPVSSRDPTKFQHQGFGMLLMEEAERIAREEHGSGKIAVISGVG
  TRNYYRKIGYRLQGPYMVKMLK

• Structural information:
  • Protein Domains: (396..54-)
    (/note="N-acetyltransferase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00532"-)
  • Interpro: IPR016181  IPR039661  IPR034687  IPR006638  IPR000182   IPR032432  IPR007197  IPR023404  
  • Prosite: PS51186
  • DIP: 53227
  • STRING: ENSP00000256398
• Other Databases: GeneCards:  ELP3  Malacards:  ELP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0002926	tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	IBA	biological process
GO:0033588	Elongator holoenzyme complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0033588	Elongator holoenzyme complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007417	central nervous system development	ISS	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0008080	N-acetyltransferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0016407	acetyltransferase activity	IDA	molecular function
GO:0002926	tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008607	phosphorylase kinase regulator activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881