• Gene id: 26610

Gene Summary

• Gene Symbol: ELP4   Gene   UCSC   Ensembl
• Aliases: AN, AN2, C11orf19, PAX6NEB, PAXNEB, dJ68P15A.1, hELP4
• Gene name: elongator acetyltransferase complex subunit 4
• Alternate names: elongator complex protein 4, PAX6 neighbor gene protein, elongation protein 4 homolog,
• Gene location: 11p13 (110199198: 110045845)     Exons: 6     NC_000004.12
• Gene summary(Entrez): This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of ye
• OMIM: 606985

Protein Summary

• Protein general information: Q96EB1  
  • Name: Elongator complex protein 4 (hELP4) (PAX6 neighbor gene protein)
  • Length: 424  
  • Mass: 46588
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQLLVSTGLPALDQLLG
  GGLAVGTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKEDPANILQELPAPLLDDKCKKEFDEDVYNHK
  TPESNIKMKIAWRYQLLPKMEIGPVSSSRFGHYYDASKRMPQELIEASNWHGFFLPEKISSTLKVEPCSLTPGYT
  KLLQFIQNIIYEEGFDGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHSLTKFLYVLRGLLRTSLSACI
  ITMPTHLIQNKAIIARVTTLSDVVVGLESFIGSERETNPLYKDYHGLIHIRQIPRLNNLICDESDVKDLAFKLKR
  KLFTIERLHLPPDLSDTVSRSSKMDLAESAKRLGPGCGMMAGGKKHLDF

• Structural information:
  • Interpro: IPR008728  
  • STRING: ENSP00000379267
• Other Databases: GeneCards:  ELP4  Malacards:  ELP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0033588	Elongator holoenzyme complex	IBA	cellular component
GO:0008023	transcription elongation factor complex	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0033588	Elongator holoenzyme complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0033588	Elongator holoenzyme complex	IEA	cellular component
GO:0002098	tRNA wobble uridine modification	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000993	RNA polymerase II complex binding	IDA	contributes to
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0008607	phosphorylase kinase regulator activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aniridia	KEGG:H00635
Aniridia	KEGG:H00635
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)