Queuine tRNA-Ribosyltransferase 1

Alternative Names

  • QTRT1
  • tRNA-Guanine Transglycosylase
  • TGT
  • TGT, 43-Kd Subunit
  • TGT, Catalytic Subunit
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OMIM Number

609615

NCBI Gene ID

81890

Uniprot ID

Q9BXR0

Length

11,927 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Queuine tRNA-ribosyltransferase catalytic subunit 1

Molecular Mass

44048 Da

Amino Acid Count

403

Genomic Location

chr19:10,701,438-10,713,364

Gene Map Locus
19p13.2

Description

This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_031209.3:c.646+1676C>GUnited Arab EmiratesNC_000019.10:g.10709291C>GNM_031209.3:c.646+1676C>G; NP_112486.1:p.?11085744
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