• Gene id: 55520

Gene Summary

• Gene Symbol: ELAC1   Gene   UCSC   Ensembl
• Aliases: D29
• Gene name: elaC ribonuclease Z 1
• Alternate names: zinc phosphodiesterase ELAC protein 1, RNase Z 1, RNaseZ(S), deleted in Ma29, elaC homolog 1, elaC homolog protein 1, ribonuclease Z 1, tRNA 3 endonuclease 1, tRNA 3' processing endoribonuclease, tRNA Z (short form), tRNase Z 1, tRNase ZS,
• Gene location: 18q21.2 (35240703: 35259226)     Exons: 6     NC_000018.10
• OMIM: 608079

Protein Summary

• Protein general information: Q9H777  
  • Name: Zinc phosphodiesterase ELAC protein 1 (EC 3.1.26.11) (Deleted in Ma29) (ElaC homolog protein 1) (Ribonuclease Z 1) (RNase Z 1) (tRNA 3 endonuclease 1) (tRNase Z 1)
  • Length: 363  
  • Mass: 40019
  • Tissue specificity: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MSMDVTFLGTGAAYPSPTRGASAVVLRCEGECWLFDCGEGTQTQLMKSQLKAGRITKIFITHLHGDHFFGLPGLL
  CTISLQSGSMVSKQPIEIYGPVGLRDFIWRTMELSHTELVFHYVVHELVPTADQCPAEELKEFAHVNRADSPPKE
  EQGRTILLDSEENSYLLFDDEQFVVKAFRLFHRIPSFGFSVVEKKRPGKLNAQKLKDLGVPPGPAYGKLKNGISV
  VLENGVTISPQDVLKKPIVGRKICILGDCSGVVGDGGVKLCFEADLLIHEATLDDAQMDKAKEHGHSTPQMAATF
  AKLCRAKRLVLTHFSQRYKPVALAREGETDGIAELKKQAESVLDLQEVTLAEDFMVISIPIKK

• Structural information:
  • Interpro: IPR001279  IPR036866  IPR013471  
  • CDD: cd07717
  • PDB: 3ZWF
  • PDBsum: 3ZWF
  • STRING: ENSP00000269466
• Other Databases: GeneCards:  ELAC1  Malacards:  ELAC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0034414	tRNA 3'-trailer cleavage, endonucleolytic	IBA	biological process
GO:0042781	3'-tRNA processing endoribonuclease activity	IBA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016891	endoribonuclease activity, producing 5'-phosphomonoesters	IEA	molecular function
GO:0042779	tRNA 3'-trailer cleavage	IEA	biological process
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881