Version 5.4
Homo sapiens Protein: ELAC2
Summary
InnateDB Protein IDBP-31248.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ELAC2
Protein Name elaC homolog 2 (E. coli)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000337445
InnateDB Gene IDBG-31246 (ELAC2)
Protein Structure
UniProt Annotation
Function Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA. {ECO:0000269PubMed:21593607}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:21593607}. Nucleus {ECO:0000269PubMed:21593607}. Note=Mainly mitochondrial.
Disease Associations Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269PubMed:10986046, ECO:0000269PubMed:11175785, ECO:0000269PubMed:11507049, ECO:0000269PubMed:11522646, ECO:0000269PubMed:12515253, ECO:0000269PubMed:12522685, ECO:0000269PubMed:12783937, ECO:0000269PubMed:15489334, ECO:0000269PubMed:18987736, ECO:0000269Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440]: An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood. {ECO:0000269PubMed:23849775}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes. {ECO:0000269PubMed:11175785}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004519 endonuclease activity
GO:0016787 hydrolase activity
GO:0044822 poly(A) RNA binding
GO:0046872 metal ion binding
Biological Process
GO:0008152 metabolic process
GO:0072684 mitochondrial tRNA 3'-trailer cleavage, endonucleolytic
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR001279 Beta-lactamase-like
PFAM PF00753
PRINTS
PIRSF
SMART SM00849
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BQ52
PhosphoSite PhosphoSite-Q9BQ52
TrEMBL V9GYU5
UniProt Splice Variant
Entrez Gene 60528
UniGene Hs.434232
RefSeq NP_776065
HUGO HGNC:14198
OMIM 605367
CCDS CCDS11164
HPRD 05641
IMGT
EMBL AC005277 AF304369 AF304370 AF304371 AK001392 AK124838 AK125030 AK298397 AK300011 BC001939 BC004158 CR457261
GenPept AAG24439 AAG24440 AAG24441 AAH01939 AAH04158 BAC85964 BAC86026 BAG60631 BAG61827 CAG33542

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca