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    ELAC2 elaC homolog 2 (E. coli) [ Homo sapiens ]

    Gene ID: 60528, updated on 11-May-2012
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    Summary

    Official Symbol
    ELAC2provided by HGNC
    Official Full Name
    elaC homolog 2 (E. coli)provided by HGNC
    Primary source
    HGNC:14198
    See related
    Ensembl:ENSG00000006744; HPRD:05641; MIM:605367; Vega:OTTHUMG00000058764
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ELC2; HPC2; FLJ10530; FLJ36693; FLJ42848
    Summary
    The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
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    Genomic context

    Location :
    17p11.2
    Sequence :
    Chromosome: 17; NC_000017.10 (12894929..12921381, complement)
    See ELAC2 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100128006 Neighboring gene myocardin Neighboring gene Rho GTPase activating protein 44 Neighboring gene microRNA 1269b Neighboring gene heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 Neighboring gene uncharacterized LOC100506974

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. RNA processing in human mitochondria. Sanchez MI, et al. Cell Cycle, 2011 Sep 1. PMID 21857155.
    4. Comparative proteomic analysis identifies a role for SUMO in protein quality control. Tatham MH, et al. Sci Signal, 2011 Jun 21. PMID 21693764.
    5. Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs. Brzezniak LK, et al. RNA Biol, 2011 Jul 1. PMID 21593607.

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. results indicate that ELAC2 functions as a tRNase Z in human mitochondria and suggest that mt-tRNase Z preferentially cleaves molecules already processed by the proteinaceous mtRNase P
      Title: Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs.
    2. ELAC2 and PTCD1 affect the 3' end processing of tRNAs.
      Title: RNA processing in human mitochondria.
    3. analysis of dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation
      Title: Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation.
    4. Data describe polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in an Indian population.
      Title: Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population.
    5. ELAC2 polymorphisms are associated with prostate cancer.
      Title: ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies.
    6. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
    7. Our findings corroborate the involvement of ELAC2, MSR1, and RNASEL in the etiology of prostate cancer even in individuals without a family history.
      Title: Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.
    8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population.
    9. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.
    10. The present data suggest the possibility that human cytosolic tRNase ZL modulates gene expression through a subset of microRNAs in the cells.
      Title: Human cytosolic tRNase ZL can downregulate gene expression through miRNA.
    Submit: New GeneRIF Correction See all (33)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Prostate cancer, susceptibility to

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9BQ52 Q9H1I8 ASCC2    HPRD  PubMed  
    Q9BQ52 P39880 CUX1    HPRD  PubMed  
    Q9BQ52 Q8NBJ4 GOLM1    HPRD  PubMed  
    Q9BQ52 O95182 NDUFA7    HPRD  PubMed  
    BioGRID:121937 BioGRID:123921 ASCC2    BioGRID  PubMed Two-hybrid 
    BioGRID:121937 BioGRID:107903 CUX1    BioGRID  PubMed Two-hybrid 
    BioGRID:121937 BioGRID:116502 PUF60    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121937 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121937 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    tRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    zinc phosphodiesterase ELAC protein 2
    Names
    zinc phosphodiesterase ELAC protein 2
    RNase Z 2
    tRNase Z 2
    ribonuclease Z 2
    tRNase Z (long form)
    tRNA 3 endonuclease 2
    elaC homolog protein 2
    heredity prostate cancer protein 2
    putative prostate cancer susceptibility protein HPC2/ELAC2
    NP_001159434.1
    NP_060597.4
    NP_776065.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015808.1 RefSeqGene

      Range
      5001..31453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165962.1 → NP_001159434.1  zinc phosphodiesterase ELAC protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AA706335, AC005277, AK298397, DC394013, DC411088
      Consensus CDS
      CCDS54093.1
      Related
      ENSP00000405223, ENST00000426905
      Conserved Domains (1) summary
      cl00446
      Location:442 – 712
      Blast Score: 434
      Lactamase_B; Metallo-beta-lactamase superfamily

    2. NM_018127.6 → NP_060597.4  zinc phosphodiesterase ELAC protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA706335, AC005277, AF304370, DC394013, DC411088
      Consensus CDS
      CCDS11164.1
      UniProtKB/Swiss-Prot
      Q9BQ52
      Related
      ENSP00000337445, OTTHUMP00000064669, ENST00000338034, OTTHUMT00000129934
      Conserved Domains (1) summary
      cl00446
      Location:482 – 752
      Blast Score: 433
      Lactamase_B; Metallo-beta-lactamase superfamily

    3. NM_173717.1 → NP_776065.1  zinc phosphodiesterase ELAC protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region. The resulting isoform (2) lacks one amino acid, compared to isoform 1.
      Source sequence(s)
      AA706335, AC005277, AK001392, BC001939, DC394013, DC411088
      UniProtKB/Swiss-Prot
      Q9BQ52
      Conserved Domains (1) summary
      cl00446
      Location:481 – 751
      Blast Score: 433
      Lactamase_B; Metallo-beta-lactamase superfamily

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      12894929..12921381, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      12790637..12816700, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005277.1 (78502..104610) None
    genomic AF304369.1 AAG24440.1
    genomic AF304371.1 AAG24439.1
    genomic CH471108.2 EAW89961.1
      EAW89962.1
      EAW89963.1
      EAW89964.1
    mRNA AA706335.1 None
    mRNA AF304370.1 AAG24441.1
    mRNA AK001392.1 None
    mRNA AK074244.1 None
    mRNA AK094012.1 None
    mRNA AK094333.1 BAG52861.1
    mRNA AK094687.1 BAG52912.1
    mRNA AK124838.1 BAC85964.1
    mRNA AK125030.1 BAC86026.1
    mRNA AK298397.1 BAG60631.1
    mRNA AK300011.1 BAG61827.1
    mRNA AK304589.1 BAG65377.1
    mRNA BC001939.1 AAH01939.1
    mRNA BC004158.2 AAH04158.1
    mRNA BC046924.1 None
    mRNA CB241821.1 None
    mRNA CR457261.1 CAG33542.1
    mRNA DB455960.1 None
    mRNA DC394013.1 None
    mRNA DC411088.1 None
    other-genetic JF432300.1 ADZ15517.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQ52.2 GenPept UniProtKB/Swiss-Prot:Q9BQ52
    Q9HAS7 GenPept UniProtKB/TrEMBL:Q9HAS7
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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