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

Gene ID: 60528, updated on 9-Dec-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
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, 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
    Q9BQ52
    UniProtKB/TrEMBL
    A0A0S2Z5M8
    Related
    ENSP00000337445.4, ENST00000338034.8
    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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