• Gene id: 54859

Gene Summary

• Gene Symbol: ELP6   Gene   UCSC   Ensembl
• Aliases: C3orf75, TMEM103
• Gene name: elongator acetyltransferase complex subunit 6
• Alternate names: elongator complex protein 6, UPF0405 protein C3orf75, angiotonin-transactivated protein 1, elongator complex protein 6 homolog, transmembrane protein 103,
• Gene location: 3p21.31 (47513724: 47495639)     Exons: 11     NC_000003.12
• OMIM: 613303

Protein Summary

• Protein general information: Q0PNE2  
  • Name: Elongator complex protein 6 (Angiotonin transactivated protein 1) (Protein TMEM103)
  • Length: 266  
  • Mass: 29793
• Sequence:

  MFVELNNLLNTTPDRAEQGKLTLLCDAKTDGSFLVHHFLSFYLKANCKVCFVALIQSFSHYSIVGQKLGVSLTMA
  RERGQLVFLEGLKSAVDVVFQAQKEPHPLQFLREANAGNLKPLFEFVREALKPVDSGEARWTYPVLLVDDLSVLL
  SLGMGAVAVLDFIHYCRATVCWELKGNMVVLVHDSGDAEDEENDILLNGLSHQSHLILRAEGLATGFCRDVHGQL
  RILWRRPSQPAVHRDQSFTYQYKIQDKSVSFFAKGMSPAVL

• Structural information:
  • Interpro: IPR018627  
  • STRING: ENSP00000296149
• Other Databases: GeneCards:  ELP6  Malacards:  ELP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033588	Elongator holoenzyme complex	IBA	cellular component
GO:0033588	Elongator holoenzyme complex	IDA	cellular component
GO:0030335	positive regulation of cell migration	ISS	biological process
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:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq