ELAC1 (elaC ribonuclease Z 1)

Gene

• Entrez ID: 55520
• Gene name: ElaC ribonuclease Z 1
• Gene symbol: ELAC1
• Synonyms (NCBI Gene): D29
• Chromosome: 18
• Chromosome location: 18q21.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT959636	hsa-miR-1208	CLIP-seq
MIRT959637	hsa-miR-15a	CLIP-seq
MIRT959638	hsa-miR-15b	CLIP-seq
MIRT959639	hsa-miR-16	CLIP-seq
MIRT959640	hsa-miR-195	CLIP-seq
MIRT959641	hsa-miR-320a	CLIP-seq
MIRT959642	hsa-miR-320b	CLIP-seq
MIRT959643	hsa-miR-320c	CLIP-seq
MIRT959644	hsa-miR-320d	CLIP-seq
MIRT959645	hsa-miR-320e	CLIP-seq
MIRT959646	hsa-miR-3942-5p	CLIP-seq
MIRT959647	hsa-miR-424	CLIP-seq
MIRT959648	hsa-miR-4264	CLIP-seq
MIRT959649	hsa-miR-4429	CLIP-seq
MIRT959650	hsa-miR-4504	CLIP-seq
MIRT959651	hsa-miR-4524	CLIP-seq
MIRT959652	hsa-miR-4703-5p	CLIP-seq
MIRT959653	hsa-miR-4704-3p	CLIP-seq
MIRT959654	hsa-miR-4776-3p	CLIP-seq
MIRT959655	hsa-miR-497	CLIP-seq
MIRT959656	hsa-miR-503	CLIP-seq
MIRT959657	hsa-miR-510	CLIP-seq
MIRT959658	hsa-miR-512-5p	CLIP-seq
MIRT959659	hsa-miR-542-3p	CLIP-seq
MIRT959660	hsa-miR-646	CLIP-seq
MIRT1984267	hsa-miR-2053	CLIP-seq
MIRT1984268	hsa-miR-3182	CLIP-seq
MIRT1984269	hsa-miR-4652-3p	CLIP-seq
MIRT1984270	hsa-miR-569	CLIP-seq
MIRT1984267	hsa-miR-2053	CLIP-seq
MIRT2219372	hsa-miR-27a	CLIP-seq
MIRT2219373	hsa-miR-27b	CLIP-seq
MIRT1984268	hsa-miR-3182	CLIP-seq
MIRT1984269	hsa-miR-4652-3p	CLIP-seq
MIRT2219374	hsa-miR-4803	CLIP-seq
MIRT2219375	hsa-miR-513a-5p	CLIP-seq
MIRT1984270	hsa-miR-569	CLIP-seq
MIRT2219376	hsa-miR-802	CLIP-seq
MIRT2522694	hsa-miR-181a	CLIP-seq
MIRT2522695	hsa-miR-181b	CLIP-seq
MIRT2522696	hsa-miR-181c	CLIP-seq
MIRT2522697	hsa-miR-181d	CLIP-seq
MIRT2522698	hsa-miR-3117-5p	CLIP-seq
MIRT2522699	hsa-miR-4262	CLIP-seq
MIRT2522700	hsa-miR-4639-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001680	Process	TRNA 3'-terminal CCA addition	IDA	32075755
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004549	Function	TRNA-specific ribonuclease activity	IDA	32075755
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21593607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	21593607
GO:0005829	Component	Cytosol	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016891	Function	RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism	IEA
GO:0042780	Process	TRNA 3'-end processing	IDA	32075755
GO:0042781	Function	3'-tRNA processing endoribonuclease activity	IBA
GO:0042781	Function	3'-tRNA processing endoribonuclease activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0072344	Process	Rescue of stalled ribosome	IDA	32075755
GO:0072344	Process	Rescue of stalled ribosome	IDA	32075755

Other IDs

• MIM: 608079
• HGNC: 14197
• e!Ensembl: ENSG00000141642

Protein

• UniProt ID: Q9H777
• Protein name: Zinc phosphodiesterase ELAC protein 1 (EC 3.1.26.11) (Deleted in Ma29) (ElaC homolog protein 1) (Ribonuclease Z 1) (RNase Z 1) (tRNA 3 endonuclease 1) (tRNase Z 1)
• Protein function: Zinc phosphodiesterase, which displays some tRNA 3'-processing endonuclease activity (PubMed:12711671, PubMed:32075755). Specifically involved in tRNA repair: acts downstream of the ribosome-associated quality control (RQC) pathway by removing a
• PDB: 3ZWF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00753	Lactamase_B	17 → 121	Metallo-beta-lactamase superfamily	Domain
  PF12706	Lactamase_B_2	237 → 314	Beta-lactamase superfamily domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:11401430). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:11401430). {ECO:0000269|PubMed:11401430}.
• Sequence:

  MSMDVTFLGTGAAYPSPTRGASAVVLRCEGECWLFDCGEGTQTQLMKSQLKAGRITKIFI
  THLHGDHFFGLPGLLCTISLQSGSMVSKQPIEIYGPVGLRDFIWRTMELSHTELVFHYVV
  HELVPTADQCPAEELKEFAHVNRADSPPKEEQGRTILLDSEENSYLLFDDEQFVVKAFRL
  FHRIPSFGFSVVEKKRPGKLNAQKLKDLGVPPGPAYGKLKNGISVVLENGVTISPQDVLK
  KPIVGRKICILGDCSGVVGDGGVKLCFEADLLIHEATLDDAQMDKAKEHGHSTPQMAATF
  AKLCRAKRLVLTHFSQRYKPVALAREGETDGIAELKKQAESVLDLQEVTLAEDFMVISIP
  IKK

• Sequence length: 363

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations