ELAC2
entrez
60528
canonical
uniprot
Q9BQ52
canonical
ensembl
ENSG00000006744
resolver
ensp
ENSP00000337445
resolver
ensp
ENSP00000405223
resolver
ensp
ENSP00000463740
resolver
ensp
ENSP00000530305
resolver
genesymbol
ELAC2
resolver
genesymbol_syn
HPC2
resolver
hgnc
HGNC:14198
resolver
uniprot
A0A0S2Z5M8
resolver
uniprot
B4DPL9
resolver
uniprot
Q6IA94
resolver
uniprot
Q9HAS8
resolver
uniprot
Q9HAS9
resolver
uniprot
Q9NVT1
resolver
uniprot_entry
A0A0S2Z5M8_HUMAN
resolver
uniprot_entry
RNZ2_HUMAN
resolver
uniprot_sec
B4DPL9
resolver
uniprot_sec
Q6IA94
resolver
uniprot_sec
Q9HAS8
resolver
uniprot_sec
Q9HAS9
resolver
uniprot_sec
Q9NVT1
resolver
amino_acid_sequence
MWALCSLLRSAAGRTMSQGRTISQAPARRERPRKDPLRHLRTREKRGPSGCSGGPNTVYLQVVAAGSRDSGAALYVFSEFNRYLFNCGEGVQRLMQEHKLKVARLDNIFLTRMHWSNVGGLSGMILTLKETGLPKCVLSGPPQLEKYLEAIKIFSGPLKGIELAVRPHSAPEYEDETMTVYQIPIHSEQRRGKHQPWQSPERPLSRLSPERSSDSESNENEPHLPHGVSQRRGVRDSSLVVAFICKLHLKRGNFLVLKAKEMGLPVGTAAIAPIIAAVKDGKSITHEGREILAEELCTPPDPGAAFVVVECPDESFIQPICENATFQRYQGKADAPVALVVHMAPASVLVDSRYQQWMERFGPDTQHLVLNENCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCKKEGPTLSVPMVQGECLLKYQLRPRREWQRDAIITCNPEEFIVEALQLPNFQQSVQEYRRSAQDGPAPAEKRSQYPEIIFLGTGSAIPMKIRNVSATLVNISPDTSLLLDCGEGTFGQLCRHYGDQVDRVLGTLAAVFVSHLHADHHTGLPSILLQRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQCQEVLHHISMIPAKCLQEGAEISSPAVERLISSLLRTCDLEEFQTCLVRHCKHAFGCALVHTSGWKVVYSGDTMPCEALVRMGKDATLLIHEATLEDGLEEEAVEKTHSTTSQAISVGMRMNAEFIMLNHFSQRYAKVPLFSPNFSEKVGVAFDHMKVCFGDFPTMPKLIPPLKALFAGDIEEMEERREKRELRQVRAALLSRELAGGLEDGEPQQKRAHTEEPQAKKVRAQ
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10986046, ECO:0000269|PubMed:11175785, ECO:0000269|PubMed:11507049, ECO:0000269|PubMed:11522646, ECO:0000269|PubMed:12515253, ECO:0000269|PubMed:12522685, ECO:0000269|PubMed:12711671, ECO:0000269|PubMed:12783937, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18987736, ECO:0000269|Ref.3}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:23849775}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.26.11
uniprot
proteins
function
FUNCTION: Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly (PubMed:24703694). {ECO:0000269|PubMed:21593607, ECO:0000269|PubMed:24703694}.
uniprot
proteins
mass_dalton
92219
uniprot
proteins
protein_family
RNase Z family
uniprot
proteins
pubmed
10986046
uniprot
proteins
pubmed
11175785
uniprot
proteins
pubmed
11507049
uniprot
proteins
pubmed
11522646
uniprot
proteins
pubmed
12515253
uniprot
proteins
pubmed
12522685
uniprot
proteins
pubmed
12711671
uniprot
proteins
pubmed
12783937
uniprot
proteins
pubmed
12949798
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21593607
uniprot
proteins
pubmed
21857155
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23849775
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24703694
uniprot
proteins
sequence_length
826
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21593607}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:24703694}. Nucleus {ECO:0000269|PubMed:21593607}. Note=Mainly mitochondrial.
uniprot
proteins