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    ELAC2 elaC ribonuclease Z 2 [ Homo sapiens (human) ]

    Gene ID: 60528, updated on 2-Oct-2018

    Summary

    Official Symbol
    ELAC2provided by HGNC
    Official Full Name
    elaC ribonuclease Z 2provided by HGNC
    Primary source
    HGNC:HGNC:14198
    See related
    Ensembl:ENSG00000006744 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; COXPD17
    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]
    Expression
    Ubiquitous expression in colon (RPKM 15.0), testis (RPKM 14.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See ELAC2 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (12991612..13018064, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (12894929..12921381, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myocardin Neighboring gene uncharacterized LOC100128006 Neighboring gene Rho GTPase activating protein 44 Neighboring gene microRNA 1269b Neighboring gene VISTA enhancer hs1497 Neighboring gene long intergenic non-protein coding RNA 2093

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • 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) ...
    • rRNA processing, organism-specific biosystem (from REACTOME)
      rRNA processing, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...
    • rRNA processing in the mitochondrion, organism-specific biosystem (from REACTOME)
      rRNA processing in the mitochondrion, organism-specific biosystemMitochondrial ribosomes contain 16S rRNA (large subunit) and 12S rRNA (small subunit) that are encoded in the mitochondrial genome and produced by processing of a long H strand transcript (reviewed i...
    • tRNA processing, organism-specific biosystem (from REACTOME)
      tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...
    • tRNA processing in the mitochondrion, organism-specific biosystem (from REACTOME)
      tRNA processing in the mitochondrion, organism-specific biosystemEach strand of the circular mitochondrial genome is transcribed to yield long polycistronic transcripts, the heavy strand transcript and the light strand transcript, which are then cleaved to yield t...
    • tRNA processing in the nucleus, organism-specific biosystem (from REACTOME)
      tRNA processing in the nucleus, organism-specific biosystemGenes encoding transfer RNAs are transcribed in the nucleus by RNA polymerase III. (Distinct processes of transcription and processing also occur in mitochondria.) The initial transcripts, pre-tRNAs,...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10530, FLJ36693, FLJ42848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    tRNA-specific ribonuclease activity EXP
    Inferred from Experiment
    more info
    PubMed 
    Process Evidence Code Pubs
    mitochondrial tRNA 3'-trailer cleavage, endonucleolytic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial tRNA 3'-trailer cleavage, endonucleolytic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial tRNA processing TAS
    Traceable Author Statement
    more info
     
    tRNA 3'-end processing TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial nucleoid IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    zinc phosphodiesterase ELAC protein 2
    Names
    RNase Z 2
    elaC homolog 2
    elaC homolog protein 2
    elaC-like protein 2
    heredity prostate cancer protein 2
    putative prostate cancer susceptibility protein HPC2/ELAC2
    ribonuclease Z 2
    tRNA 3 endonuclease 2
    tRNase Z (long form)
    tRNase Z 2
    NP_001159434.1
    NP_060597.4
    NP_776065.1
    XP_024306618.1
    XP_024306619.1
    XP_024306620.1
    XP_024306621.1
    XP_024306622.1
    XP_024306623.1
    XP_024306624.1
    XP_024306625.1
    XP_024306626.1
    XP_024306627.1
    XP_024306628.1
    XP_024306629.1
    XP_024306630.1

    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_001165962.1NP_001159434.1  zinc phosphodiesterase ELAC protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001159434.1

      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
      UniProtKB/Swiss-Prot
      Q9BQ52
      Related
      ENSP00000405223.3, OTTHUMP00000259218, ENST00000426905.7, OTTHUMT00000441600
      Conserved Domains (4) summary
      COG1234
      Location:442712
      ElaC; Ribonuclease BN, tRNA processing enzyme [Translation, ribosomal structure and biogenesis]
      cd07718
      Location:443648
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60271
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:616690
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    2. NM_018127.6NP_060597.4  zinc phosphodiesterase ELAC protein 2 isoform 1

      See identical proteins and their annotated locations for NP_060597.4

      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
      UniProtKB/TrEMBL
      A0A0S2Z5M8
      Related
      ENSP00000337445.4, OTTHUMP00000064669, ENST00000338034.8, OTTHUMT00000129934
      Conserved Domains (4) summary
      COG1234
      Location:482752
      ElaC; Ribonuclease BN, tRNA processing enzyme [Translation, ribosomal structure and biogenesis]
      cd07718
      Location:483688
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60311
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:656730
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    3. NM_173717.1NP_776065.1  zinc phosphodiesterase ELAC protein 2 isoform 2

      See identical proteins and their annotated locations for NP_776065.1

      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 (4) summary
      COG1234
      Location:481751
      ElaC; Ribonuclease BN, tRNA processing enzyme [Translation, ribosomal structure and biogenesis]
      cd07718
      Location:482687
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60311
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:655729
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      12991612..13018064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450855.1XP_024306623.1  zinc phosphodiesterase ELAC protein 2 isoform X6

      Conserved Domains (2) summary
      cd07718
      Location:443674
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60271
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
    2. XM_024450854.1XP_024306622.1  zinc phosphodiesterase ELAC protein 2 isoform X5

      Conserved Domains (2) summary
      cd07718
      Location:470701
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60271
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
    3. XM_024450853.1XP_024306621.1  zinc phosphodiesterase ELAC protein 2 isoform X4

      Conserved Domains (2) summary
      cd07718
      Location:482713
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60311
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
    4. XM_024450852.1XP_024306620.1  zinc phosphodiesterase ELAC protein 2 isoform X3

      Conserved Domains (2) summary
      cd07718
      Location:483714
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60311
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
    5. XM_024450851.1XP_024306619.1  zinc phosphodiesterase ELAC protein 2 isoform X2

      Conserved Domains (3) summary
      cd07718
      Location:510715
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60311
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:683757
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    6. XM_024450850.1XP_024306618.1  zinc phosphodiesterase ELAC protein 2 isoform X1

      Conserved Domains (2) summary
      cd07718
      Location:510741
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cd16296
      Location:60311
      RNaseZ_ELAC2-N-term-like_MBL-fold; Ribonuclease Z, N-terminus of human ELAC2 and related proteins; MBL-fold metallo-hydrolase domain
    7. XM_024450862.1XP_024306630.1  zinc phosphodiesterase ELAC protein 2 isoform X11

      Conserved Domains (2) summary
      cd07718
      Location:388593
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:1217
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    8. XM_024450859.1XP_024306627.1  zinc phosphodiesterase ELAC protein 2 isoform X9

      Conserved Domains (2) summary
      cd07718
      Location:388619
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:1217
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    9. XM_024450860.1XP_024306628.1  zinc phosphodiesterase ELAC protein 2 isoform X10

      Conserved Domains (2) summary
      cd07718
      Location:389594
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:1217
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    10. XM_024450858.1XP_024306626.1  zinc phosphodiesterase ELAC protein 2 isoform X8

      Conserved Domains (2) summary
      cd07718
      Location:389620
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:1217
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    11. XM_024450856.1XP_024306624.1  zinc phosphodiesterase ELAC protein 2 isoform X7

      Conserved Domains (2) summary
      cd07718
      Location:416647
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:1217
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    12. XM_024450861.1XP_024306629.1  zinc phosphodiesterase ELAC protein 2 isoform X10

      Related
      ENSP00000463740.2, ENST00000584650.5
      Conserved Domains (2) summary
      cd07718
      Location:389594
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:1217
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    13. XM_024450857.1XP_024306625.1  zinc phosphodiesterase ELAC protein 2 isoform X7

      Conserved Domains (2) summary
      cd07718
      Location:416647
      RNaseZ_ELAC1_ELAC2-C-term-like_MBL-fold; Ribonuclease Z ELAC1, C-terminus of ELAC2, and related proteins; MBL-fold metallo-hydrolase domain
      cl23716
      Location:1217
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
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