Human Gene ELAC1 (uc002lez.3) Description and Page Index
  Description: Homo sapiens elaC ribonuclease Z 1 (ELAC1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr18:48,494,387-48,514,490 Size: 20,104 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr18:48,500,775-48,513,455 Size: 12,681 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr18:48,494,387-48,514,490)mRNA (may differ from genome)Protein (363 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc phosphodiesterase ELAC protein 1; EC=; AltName: Full=Deleted in Ma29; AltName: Full=ElaC homolog protein 1; AltName: Full=Ribonuclease Z 1; Short=RNase Z 1; AltName: Full=tRNA 3 endonuclease 1; AltName: Full=tRNase Z 1;
FUNCTION: Zinc phosphodiesterase, which displays some tRNA 3'- processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA.
CATALYTIC ACTIVITY: 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.
COFACTOR: Binds 2 zinc ions (By similarity).
SUBUNIT: Homodimer (By similarity).
TISSUE SPECIFICITY: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
SIMILARITY: Belongs to the RNase Z family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ELAC1
CDC HuGE Published Literature: ELAC1
Positive Disease Associations: Hemoglobin A, Glycosylated
Related Studies:
  1. Hemoglobin A, Glycosylated
    Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes. [PubMed 19875614]
    A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.

-  MalaCards Disease Associations
  MalaCards Gene Search: ELAC1
Diseases sorted by gene-association score: prostate cancer susceptibility (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.20 RPKM in Testis
Total median expression: 94.00 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -58.12106-0.548 Picture PostScript Text
3' UTR -290.601035-0.281 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001279 - Beta-lactamas-like
IPR013471 - RNase_Z

Pfam Domains:
PF00753 - Metallo-beta-lactamase superfamily
PF12706 - Beta-lactamase superfamily domain
PF13691 - tRNase Z endonuclease

SCOP Domains:
56281 - Metallo-hydrolase/oxidoreductase

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9H777
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0016787 hydrolase activity
GO:0016891 endoribonuclease activity, producing 5'-phosphomonoesters
GO:0042781 3'-tRNA processing endoribonuclease activity
GO:0046872 metal ion binding

Biological Process:
GO:0008033 tRNA processing
GO:0034414 tRNA 3'-trailer cleavage, endonucleolytic
GO:0042779 tRNA 3'-trailer cleavage
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  AK024822 - Homo sapiens cDNA: FLJ21169 fis, clone CAS10938.
AF308695 - Homo sapiens ELAC1 mRNA, complete cds.
AK303027 - Homo sapiens cDNA FLJ59261 complete cds, highly similar to Mothers against decapentaplegic homolog 4 (SMAD4).
AK310911 - Homo sapiens cDNA, FLJ17953.
BC014624 - Homo sapiens elaC homolog 1 (E. coli), mRNA (cDNA clone MGC:4455 IMAGE:2960155), complete cds.
AK223507 - Homo sapiens mRNA for elaC homolog 1 variant, clone: FCC121G06.
AB029151 - Homo sapiens D29 mRNA, complete cds.
JD391993 - Sequence 373017 from Patent EP1572962.
DQ892785 - Synthetic construct clone IMAGE:100005415; FLH189711.01X; RZPDo839A0575D elaC homolog 1 (E. coli) (ELAC1) gene, encodes complete protein.
DQ896032 - Synthetic construct Homo sapiens clone IMAGE:100010492; FLH189707.01L; RZPDo839A0565D elaC homolog 1 (E. coli) (ELAC1) gene, encodes complete protein.
KJ899146 - Synthetic construct Homo sapiens clone ccsbBroadEn_08540 ELAC1 gene, encodes complete protein.
JD530762 - Sequence 511786 from Patent EP1572962.
JD188958 - Sequence 169982 from Patent EP1572962.
JD270464 - Sequence 251488 from Patent EP1572962.
JD387896 - Sequence 368920 from Patent EP1572962.
JD234503 - Sequence 215527 from Patent EP1572962.
JD343387 - Sequence 324411 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D29, NM_018696, NP_061166, Q9H777, Q9NS99, RNZ1_HUMAN
UCSC ID: uc002lez.3
RefSeq Accession: NM_018696
Protein: Q9H777 (aka RNZ1_HUMAN)
CCDS: CCDS11949.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_018696.2
exon count: 4CDS single in 3' UTR: no RNA size: 2233
ORF size: 1092CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2227.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.