Aliases for ELAC1 Gene

Aliases for ELAC1 Gene

  • ElaC Ribonuclease Z 1 2 3 5
  • D29 2 3 4
  • Zinc Phosphodiesterase ELAC Protein 1 3 4
  • 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
  • EC 3.1.26.11 4 50
  • TRNase Z 1 3 4
  • RNaseZ(S) 2 3
  • RNase Z 1 3 4
  • TRNA 3' Processing Endoribonuclease 3
  • ElaC (E. Coli) Homolog 1 2
  • ElaC Homolog 1 (E. Coli) 2
  • ElaC Homolog 1 3
  • TRNase ZS 3
  • ELAC1 5

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. Diseases associated with ELAC1 include Embryoma. 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 ELAC2.

UniProtKB/Swiss-Prot Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELAC1 Gene

Genomics for ELAC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELAC1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELAC1

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

Genomic Locations for ELAC1 Gene

Latest Assembly
chr18:50,967,991-50,988,121
(GRCh38/hg38)
Size:
20,131 bases
Orientation:
Plus strand

Previous Assembly
chr18:48,494,410-48,514,491
(GRCh37/hg19 by Entrez Gene)
Size:
20,082 bases
Orientation:
Plus strand

chr18:48,494,361-48,514,491
(GRCh37/hg19 by Ensembl)
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

Selected DME Specific Peptides for ELAC1 Gene

Q9H777:
  • WLFDCGE
  • DCGEGTQ
  • FGLPGLL
  • LLIHEAT

Post-translational modifications for ELAC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELAC1 Gene

Domains & Families for ELAC1 Gene

Gene Families for ELAC1 Gene

HGNC:
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:
  • tRNase Z 1 (RNZ1_HUMAN)

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:
Reaction=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.; EC=3.1.26.11; Evidence={ECO:0000269|PubMed:12711671};.

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:0004518 nuclease activity IEA --
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 21873635
genes like me logo Genes that share ontologies with ELAC1: view
genes like me logo Genes that share phenotypes with ELAC1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ELAC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAC1

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 2
extracellular 1
peroxisome 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ELAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 21593607
GO:0005654 nucleoplasm IDA --
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

PathCards logo

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 :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAC1

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

Expression for ELAC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 29 30
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELAC1 29 30
  • 92.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELAC1 29 30
  • 91.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Elac1 29 16
  • 86.65 (n)
Rat
(Rattus norvegicus)
Mammalia Elac1 29
  • 86.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 81 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 75 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 67 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elac1 29
  • 67.03 (n)
Str.3800 29
Zebrafish
(Danio rerio)
Actinopterygii elac1 29 30
  • 58.86 (n)
OneToMany
Dr.13263 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7442 29
Species where no ortholog for ELAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for ELAC1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELAC1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs34524743 -- p.Met355Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ELAC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ELAC1

SNP Genotyping and Copy Number Assays for research

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

MalaCards: The human disease database

(1) MalaCards diseases for ELAC1 Gene - From: COP

Disorder Aliases PubMed IDs
embryoma
  • blastoma
- elite association - COSMIC cancer census association via MalaCards
Search ELAC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ELAC1

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

No data available for 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
  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
  3. Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs. (PMID: 21593607) Brzezniak LK … Stepien PP (RNA biology 2011) 3 4
  4. 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
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ELAC1 Gene

Sources for ELAC1 Gene