InnateDB Protein
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IDBP-369318.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ELAC2
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Protein Name
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elaC homolog 2 (E. coli)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000405223
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InnateDB Gene
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IDBG-31246 (ELAC2)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion {ECO:0000269PubMed:21593607}. Nucleus {ECO:0000269PubMed:21593607}. Note=Mainly mitochondrial.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
25
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0072684
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mitochondrial tRNA 3'-trailer cleavage, endonucleolytic
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Cellular Component |
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PDB ID |
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InterPro |
IPR001279
Beta-lactamase-like
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PFAM |
PF00753
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PRINTS |
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PIRSF |
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SMART |
SM00849
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BQ52
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PhosphoSite |
PhosphoSite-Q9BQ52
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
60528
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UniGene |
Hs.434232
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RefSeq |
NP_001159434
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HUGO |
HGNC:14198
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OMIM |
605367
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CCDS |
CCDS54093
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HPRD |
05641
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IMGT |
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EMBL |
AC005277
AF304369
AF304370
AK001392
AK124838
AK125030
AK298397
BC001939
BC004158
CR457261
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GenPept |
AAG24440
AAG24441
AAH01939
AAH04158
BAC85964
BAC86026
BAG60631
CAG33542
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