• Gene id: 23587

Gene Summary

• Gene Symbol: ELP5   Gene   UCSC   Ensembl
• Aliases: C17orf81, DERP6, HSPC002, MST071, MSTP071
• Gene name: elongator acetyltransferase complex subunit 5
• Alternate names: elongator complex protein 5, S-phase 2 protein, dermal papilla derived protein 6,
• Gene location: 17p13.1 (7251736: 7259939)     Exons: 10     NC_000017.11
• OMIM: 615019

Protein Summary

• Protein general information: Q8TE02  
  • Name: Elongator complex protein 5 (Dermal papilla derived protein 6) (S phase 2 protein)
  • Length: 316  
  • Mass: 34841
  • Tissue specificity: Ubiquitously expressed with high levels in heart, brain, liver, skeletal muscle and testis.
• Sequence:

  MTPSEGARAGTGRELEMLDSLLALGGLVLLRDSVEWEGRSLLKALVKKSALCGEQVHILGCEVSEEEFREGFDSD
  INNRLVYHDFFRDPLNWSKTEEAFPGGPLGALRAMCKRTDPVPVTIALDSLSWLLLRLPCTTLCQVLHAVSHQDS
  CPGDSSSVGKVSVLGLLHEELHGPGPVGALSSLAQTEVTLGGTMGQASAHILCRRPRQRPTDQTQWFSILPDFSL
  DLQEGPSVESQPYSDPHIPPVDPTTHLTFNLHLSKKEREARDSLILPFQFSSEKQQALLRPRPGQATSHIFYEPD
  AYDDLDQEDPDDDLDI

• Structural information:
  • Interpro: IPR019519  
  • STRING: ENSP00000379869
• Other Databases: GeneCards:  ELP5  Malacards:  ELP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033588	Elongator holoenzyme complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq