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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ELAC1
elaC ribonuclease Z 1
Chromosome 18 · 18q21.2
NCBI Gene: 55520Ensembl: ENSG00000141642.10HGNC: HGNC:14197UniProt: Q9H777
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA-specific ribonuclease activitynucleusnucleoplasmcytosolneurodegenerative diseasechildhood onset asthmarespiratory system diseaseAbdominal Aortic Aneurysm
✦AI Summary

ELAC1 (elaC ribonuclease Z 1) functions as a zinc phosphodiesterase with specialized tRNA 3'-processing endonuclease activity 12. The protein is primarily involved in tRNA repair following ribosome-associated quality control (RQC) processes. Specifically, ELAC1 acts downstream of the RQC pathway by removing 2',3'-cyclic phosphates from tRNAs that have been cleaved by the endonuclease ANKZF1, thereby enabling subsequent CCA re-addition by TRNT1 for tRNA recycling 2. ELAC1 localizes to the cytosol and represents the short form of RNase Z in human cells, distinct from ELAC2 which functions in nuclear and mitochondrial tRNA biogenesis 3. The enzyme's activity is optimized for tRNA recycling rather than de novo tRNA processing, and cells lacking ELAC1 accumulate unrepaired tRNA intermediates when ribosome stalling is induced 2. ELAC1 expression is upregulated by interferons through interferon-stimulated response elements in its promoter, suggesting a role in antiviral responses 4. While genetic variants near ELAC1 have been associated with multiple sclerosis antibody levels, the clinical significance of ELAC1 dysfunction in human disease remains to be fully established 5.

Sources cited
1
ELAC1 removes 2',3'-cyclic phosphates from ANKZF1-cleaved tRNAs in the RQC pathway and is necessary for tRNA repair
PMID: 32075755
2
ELAC1 has tRNA 3'-processing endonuclease activity and functions as a zinc phosphodiesterase
PMID: 12711671
3
ELAC1 represents the short form of RNase Z and localizes to the cytosol
PMID: 21559454
4
ELAC1 expression is upregulated by interferons through ISREs in its promoter
PMID: 34808499
5
Genetic variants near ELAC1 are associated with oligoclonal band status in multiple sclerosis
PMID: 25616667
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.27Weak
childhood onset asthmaOpen Targets
0.13Weak
respiratory system diseaseOpen Targets
0.12Weak
Abdominal Aortic AneurysmOpen Targets
0.08Suggestive
Eczematoid dermatitisOpen Targets
0.07Suggestive
allergic rhinitisOpen Targets
0.07Suggestive
allergic diseaseOpen Targets
0.04Suggestive
Abnormal thrombosisOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
sign or symptomOpen Targets
0.03Suggestive
cholelithiasisOpen Targets
0.02Suggestive
major depressive disorderOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
androgenetic alopeciaOpen Targets
0.02Suggestive
cardiac hypertrophyOpen Targets
0.02Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
hypertrophyOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ELAC2Protein interaction67%TRNT1Shared pathway67%PTRH1Shared pathway50%PTCD1Shared pathway50%SAYSD1Shared pathway33%TCF25Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Brain
70%
Heart
57%
Ovary
51%
Bone Marrow
46%
Lung
41%
Gene Interaction Network
Click a node to explore
ELAC1ELAC2TRNT1PTRH1PTCD1SAYSD1TCF25
PROTEIN STRUCTURE
Preparing viewer…
PDB3ZWF · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.49–1.04]
RankingsWhere ELAC1 stands among ~20K protein-coding genes
  • #14,418of 20,598
    Most Researched19
  • #10,440of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedELAC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control.
PMID: 32075755
Cell Rep · 2020
1.00
2
Transcription from the proximal promoter of ELAC1, a gene for tRNA repair, is upregulated by interferons.
PMID: 34808499
Biochem Biophys Res Commun · 2021
0.90
3
Assigning a function to a conserved group of proteins: the tRNA 3'-processing enzymes.
PMID: 12032089
EMBO J · 2002
0.80
4
Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation.
PMID: 21559454
PLoS One · 2011
0.70
5
Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.
PMID: 25616667
Brain · 2015
0.60