Adenosine Deaminase, tRNA-Specific, 3

Alternative Names

  • ADAT3
  • TAD3, S. cerevisiae, Homolog of
  • TAD3
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OMIM Number

615302

NCBI Gene ID

113179

Uniprot ID

Q96EY9

Length

8,076 bases

No. of Exons

2

No. of isoforms

1

Protein Name

Probable inactive tRNA-specific adenosine deaminase-like protein 3

Molecular Mass

38071 Da

Amino Acid Count

351

Genomic Location

chr19:1,905,372-1,913,447

Gene Map Locus
19p13.3

Description

The ADAT3 gene encodes a protein that forms a heterodimer with the ADAT2 protein.  The ADAT3-ADAT2 heterodimer functions as an enzyme that is responsible for the hydrolytic deamination of adenosine to inosine on t-RNA.  This occurs at the position 34 of the anticodon stem-loop motif of t-RNA, also known as the wobble position.  The ADAT3 protein is hence involved in a highly specific t-RNA modification.  While the exact significance of this process is yet to be fully elucidated, it is speculated to affect the t-RNA stability and structure, while also improving its fidelity in translation.

Mutations in the gene have been associated with Mental Retardation, Autosomal Recessive 36 (MRT36), a disorder characterized by intellectual disability and esotropia.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_138422.4:c.430G>ASaudi Arabia; United A...NC_000019.10:g.1912477G>APathogenicPathogenicMental Retardation, Autosomal Recessive 36NG_051211.1:g.12264G>A; NM_138422.4:c.430G>A; NP_612431.2:p.Val144Met730882213183301
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