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

    Gene ID: 60528, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:14198
    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
    NEW
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    Genomic context

    See ELAC2 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (12991612..13018027, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (12899079..12925488, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (12894929..12921344, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myocardin Neighboring gene ARHGAP44 and MYOCD antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11737 Neighboring gene Rho GTPase activating protein 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11739 Neighboring gene microRNA 1269b Neighboring gene Sharpr-MPRA regulatory region 8598 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12920660-12921160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8207 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:12999283-13000482 Neighboring gene VISTA enhancer hs1497 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:13044042-13044662 Neighboring gene uncharacterized LOC124904097 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10530, FLJ36693, FLJ42848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-tRNA processing endoribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding HDA PubMed 
    enables RNA endonuclease activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tRNA-specific ribonuclease activity EXP
    Inferred from Experiment
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial tRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial tRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial tRNA processing TAS
    Traceable Author Statement
    more info
     
    involved_in tRNA 3'-end processing TAS
    Traceable Author Statement
    more info
     
    involved_in tRNA decay TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in 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_024306628.1
    XP_024306629.1
    XP_054172839.1
    XP_054172840.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5038..31453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165962.2NP_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
      Consensus CDS
      CCDS54093.1
      UniProtKB/TrEMBL
      B4DT15
      Related
      ENSP00000405223.3, ENST00000426905.7
      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_018127.7NP_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
      Consensus CDS
      CCDS11164.1
      UniProtKB/Swiss-Prot
      B4DPL9, Q6IA94, Q9BQ52, Q9HAS8, Q9HAS9, Q9NVT1
      UniProtKB/TrEMBL
      A0A0S2Z5M8, B4DT15
      Related
      ENSP00000337445.4, ENST00000338034.9
      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_173717.2NP_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
      UniProtKB/TrEMBL
      B4DT15
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      12991612..13018027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450861.2XP_024306629.1  zinc phosphodiesterase ELAC protein 2 isoform X1

      UniProtKB/TrEMBL
      G5E9D5
      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
    2. XM_024450860.2XP_024306628.1  zinc phosphodiesterase ELAC protein 2 isoform X1

      UniProtKB/TrEMBL
      G5E9D5
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      12899079..12925488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316864.1XP_054172839.1  zinc phosphodiesterase ELAC protein 2 isoform X1

      UniProtKB/TrEMBL
      G5E9D5
    2. XM_054316865.1XP_054172840.1  zinc phosphodiesterase ELAC protein 2 isoform X1

      UniProtKB/TrEMBL
      G5E9D5