ELAC1 elaC ribonuclease Z 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELAC1provided by HGNC
Official Full Name: elaC ribonuclease Z 1provided by HGNC
Primary source: HGNC:HGNC:14197
See related: Ensembl:ENSG00000141642 MIM:608079; AllianceGenome:HGNC:14197
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D29
Summary: Enables tRNA-specific ribonuclease activity. Involved in rescue of stalled ribosome and tRNA 3'-end processing. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 4.4), testis (RPKM 3.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (50968040..50988121)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (51169751..51189833)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (48494410..48514491)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus.
Title: Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus.
Transcription from the proximal promoter of ELAC1, a gene for tRNA repair, is upregulated by interferons.
Title: Transcription from the proximal promoter of ELAC1, a gene for tRNA repair, is upregulated by interferons.
ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control.
Title: ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control.
Human tRNase ZS gene expression appears to be post-transcriptionally regulated.
Title: Regulation of the human tRNase ZS gene expression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC38219 (e-PCR)
- UniSTS:71212

RH45926 (e-PCR)
- UniSTS:84806

ELAC1__7576 (e-PCR)
- UniSTS:466143

D18S897E (e-PCR)
- UniSTS:150509

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-tRNA processing endoribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables tRNA-specific ribonuclease activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc phosphodiesterase ELAC protein 1

Names: RNase Z 1; RNaseZ(S); deleted in Ma29; elaC homolog 1; elaC homolog protein 1; ribonuclease Z 1; tRNA 3 endonuclease 1; tRNA 3' processing endoribonuclease; tRNA Z (short form); tRNase Z 1; tRNase ZS

NP_061166.1

EC 3.1.26.11

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_018696.3 → NP_061166.1 zinc phosphodiesterase ELAC protein 1

See identical proteins and their annotated locations for NP_061166.1

Status: VALIDATED

Source sequence(s)

AC087687, AF308695, AI870985

Consensus CDS

CCDS11949.1

UniProtKB/Swiss-Prot

Q9H777, Q9NS99

UniProtKB/TrEMBL

Q53EY2

Related

ENSP00000269466.3, ENST00000269466.8

Conserved Domains (2) summary

COG1234
Location:3 → 360

ElaC; Ribonuclease BN, tRNA processing enzyme [Translation, ribosomal structure and biogenesis]

TIGR02651
Location:4 → 359

RNase_Z; ribonuclease Z