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Aliases for ELAC1 Gene

Aliases for ELAC1 Gene

  • ElaC Ribonuclease Z 1 2 3 5
  • ElaC Homolog Protein 1 3 4
  • TRNA 3 Endonuclease 1 3 4
  • TRNA Z (Short Form) 2 3
  • Ribonuclease Z 1 3 4
  • Deleted In Ma29 3 4
  • TRNase Z 1 3 4
  • RNaseZ(S) 2 3
  • RNase Z 1 3 4
  • D29 3 4
  • Zinc Phosphodiesterase ELAC Protein 1 3
  • TRNA 3 Processing Endoribonuclease 3
  • ElaC (E. Coli) Homolog 1 2
  • ElaC Homolog 1 (E. Coli) 2
  • ElaC Homolog 1 3
  • EC 3.1.26.11 4
  • TRNase ZS 3

External Ids for ELAC1 Gene

Previous GeneCards Identifiers for ELAC1 Gene

  • GC18P048678
  • GC18P048429
  • GC18P046746
  • GC18P046748
  • GC18P045349
  • GC18P048496

Summaries for ELAC1 Gene

GeneCards Summary for ELAC1 Gene

ELAC1 (ElaC Ribonuclease Z 1) is a Protein Coding gene. Among its related pathways are RNA transport. Gene Ontology (GO) annotations related to this gene include endoribonuclease activity, producing 5-phosphomonoesters and 3-tRNA processing endoribonuclease activity. An important paralog of this gene is ENSG00000267699.

UniProtKB/Swiss-Prot for ELAC1 Gene

  • Zinc phosphodiesterase, which displays some tRNA 3-processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3-trailer from precursor tRNA.

Gene Wiki entry for ELAC1 Gene

Additional gene information for ELAC1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELAC1 Gene

Genomics for ELAC1 Gene

GeneHancer (GH) Regulatory Elements for ELAC1 Gene

Promoters and enhancers for ELAC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J050967 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.4 416 2.1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF207 ZNF143 REST ENSG00000267699 ELAC1 MBD1 CXXC1 SMAD4 MEX3C ME2 GC18P050945 GC18M050997
GH18J050283 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 35.7 -681.8 -681835 5 HDGF FOXA2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 CXXC1 SMAD4 RPL17 MBD1 ELAC1 MEX3C CFAP53
GH18J050277 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.7 -688.1 -688123 5.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B MBD1 SMAD4 CXXC1 RPL17 MEX3C ELAC1 CFAP53
GH18J050747 Enhancer 0.9 ENCODE 26.8 -219.2 -219184 1.9 FEZF1 YY1 GLIS2 ZNF213 KLF7 TSHZ1 ZNF488 ZNF610 ZSCAN16 GLIS1 MEX3C ELAC1 MBD1 MAPK4 LOC105372116 ENSG00000267713
GH18J050192 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 9.8 -773.7 -773700 3 RB1 KLF5 RAD21 YY1 ZNF335 GLIS2 ZNF143 IKZF2 BCLAF1 SMARCA5 MYO5B MBD1 CXXC1 ELAC1 GC18P050165
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELAC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELAC1 gene promoter:
  • Zic3
  • Sox9
  • Egr-2
  • HFH-1
  • Egr-3
  • HNF-4alpha1
  • Egr-4
  • FOXO1a
  • FOXO1
  • POU2F1a

Genomic Locations for ELAC1 Gene

Genomic Locations for ELAC1 Gene
chr18:50,967,991-50,988,121
(GRCh38/hg38)
Size:
20,131 bases
Orientation:
Plus strand
chr18:48,494,361-48,514,491
(GRCh37/hg19)
Size:
20,131 bases
Orientation:
Plus strand

Genomic View for ELAC1 Gene

Genes around ELAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELAC1 Gene

Proteins for ELAC1 Gene

  • Protein details for ELAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H777-RNZ1_HUMAN
    Recommended name:
    Zinc phosphodiesterase ELAC protein 1
    Protein Accession:
    Q9H777
    Secondary Accessions:
    • Q9NS99

    Protein attributes for ELAC1 Gene

    Size:
    363 amino acids
    Molecular mass:
    40019 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ELAC1 Gene

neXtProt entry for ELAC1 Gene

Post-translational modifications for ELAC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELAC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELAC1 Gene

Domains & Families for ELAC1 Gene

Gene Families for ELAC1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ELAC1 Gene

Suggested Antigen Peptide Sequences for ELAC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H777

UniProtKB/Swiss-Prot:

RNZ1_HUMAN :
  • Belongs to the RNase Z family.
Family:
  • Belongs to the RNase Z family.
genes like me logo Genes that share domains with ELAC1: view

Function for ELAC1 Gene

Molecular function for ELAC1 Gene

UniProtKB/Swiss-Prot Function:
Zinc phosphodiesterase, which displays some tRNA 3-processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3-trailer from precursor tRNA.
UniProtKB/Swiss-Prot CatalyticActivity:
Endonucleolytic cleavage of RNA, removing extra 3 nucleotides from tRNA precursor, generating 3 termini of tRNAs. A 3-hydroxy group is left at the tRNA terminus and a 5-phosphoryl group is left at the trailer molecule.

Enzyme Numbers (IUBMB) for ELAC1 Gene

Phenotypes From GWAS Catalog for ELAC1 Gene

Gene Ontology (GO) - Molecular Function for ELAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004519 endonuclease activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016891 endoribonuclease activity, producing 5-phosphomonoesters IEA --
GO:0042781 3-tRNA processing endoribonuclease activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ELAC1: view
genes like me logo Genes that share phenotypes with ELAC1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ELAC1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ELAC1 Gene

Localization for ELAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELAC1 Gene

Cytoplasm, cytosol. Nucleus. Note=Mainly cytosolic.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELAC1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21593607
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 21593607
genes like me logo Genes that share ontologies with ELAC1: view

Pathways & Interactions for ELAC1 Gene

SuperPathways for ELAC1 Gene

SuperPathway Contained pathways
1 RNA transport
genes like me logo Genes that share pathways with ELAC1: view

Pathways by source for ELAC1 Gene

1 KEGG pathway for ELAC1 Gene

Interacting Proteins for ELAC1 Gene

Gene Ontology (GO) - Biological Process for ELAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
GO:0034414 tRNA 3-trailer cleavage, endonucleolytic IEA --
GO:0042779 tRNA 3-trailer cleavage IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with ELAC1: view

No data available for SIGNOR curated interactions for ELAC1 Gene

Drugs & Compounds for ELAC1 Gene

No Compound Related Data Available

Transcripts for ELAC1 Gene

mRNA/cDNA for ELAC1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(272) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ELAC1 Gene

ElaC homolog 1 (E. coli):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELAC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: - -
SP2: -
SP3:

Relevant External Links for ELAC1 Gene

GeneLoc Exon Structure for
ELAC1
ECgene alternative splicing isoforms for
ELAC1

Expression for ELAC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELAC1 Gene

Protein differential expression in normal tissues from HIPED for ELAC1 Gene

This gene is overexpressed in Platelet (49.4), Ovary (8.6), and Testis (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELAC1 Gene



Protein tissue co-expression partners for ELAC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELAC1 Gene:

ELAC1

SOURCE GeneReport for Unigene cluster for ELAC1 Gene:

Hs.657360

mRNA Expression by UniProt/SwissProt for ELAC1 Gene:

Q9H777-RNZ1_HUMAN
Tissue specificity: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for ELAC1 Gene

  • Muscle(4.1)
genes like me logo Genes that share expression patterns with ELAC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELAC1 Gene

Orthologs for ELAC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ELAC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELAC1 34 33
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ELAC1 34 33
  • 92.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ELAC1 34 33
  • 91.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elac1 16 33
  • 86.65 (n)
rat
(Rattus norvegicus)
Mammalia Elac1 33
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia elac1 33
  • 67.03 (n)
Str.3800 33
zebrafish
(Danio rerio)
Actinopterygii elac1 34 33
  • 58.86 (n)
OneToMany
Dr.13263 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7442 33
Species where no ortholog for ELAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELAC1 Gene

ENSEMBL:
Gene Tree for ELAC1 (if available)
TreeFam:
Gene Tree for ELAC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELAC1: view image

Paralogs for ELAC1 Gene

Paralogs for ELAC1 Gene

genes like me logo Genes that share paralogs with ELAC1: view

Variants for ELAC1 Gene

Sequence variations from dbSNP and Humsavar for ELAC1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000197488 -- 50,978,762(+) G/C intron_variant
rs1000481110 -- 50,985,368(+) C/T intron_variant
rs1000833459 -- 50,966,706(+) C/A upstream_transcript_variant
rs1001154473 -- 50,972,625(+) G/A intron_variant
rs1001211418 -- 50,979,824(+) T/G intron_variant

Variation tolerance for ELAC1 Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELAC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELAC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ELAC1 Gene

Disorders for ELAC1 Gene

Additional Disease Information for ELAC1

No disorders were found for ELAC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELAC1 Gene

Publications for ELAC1 Gene

  1. A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease. (PMID: 12711671) Takaku H … Nashimoto M (Nucleic acids research 2003) 2 3 4 22 58
  2. Physical and transcriptional map of a 311-kb segment of chromosome 18q21, a candidate lung tumor suppressor locus. (PMID: 11401430) Yanaihara N … Yokota J (Genomics 2001) 3 4 22 58
  3. Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation. (PMID: 21559454) Rossmanith W (PloS one 2011) 2 3 58
  4. Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs. (PMID: 21593607) Brzezniak LK … Stepien PP (RNA biology 2011) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ELAC1 Gene

Sources for ELAC1 Gene

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