DOT1-Like

Alternative Names

  • DOT1L
  • DOT1, S. cerevisiae, Homolog of
  • DOT1
  • Histone H3 Methyltransferase DOT1-Like
  • Kiaa1814
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OMIM Number

607375

NCBI Gene ID

84444

Uniprot ID

Q8TEK3

Length

68,646 bases

No. of Exons

31

No. of isoforms

2

Protein Name

Histone-lysine N-methyltransferase, H3 lysine-79 specific

Molecular Mass

164856 Da

Amino Acid Count

1537

Genomic Location

chr19:2,163,932-2,232,577

Gene Map Locus
19p13.3

Description

The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032482.2:c.*2430A>GUnited Arab EmiratesNC_000019.10:g.2232222A>GNG_029793.1:g.73074A>G; NM_032482.2:c.*2430A>G; NP_115871.1:p.?740406
NM_032482.3:c.82-4126A>GUnited Arab EmiratesNC_000019.10:g.2176587A>GNG_029793.1:g.17439A>G; NM_032482.3:c.82-4126A>G; NP_115871.1:p.?12459350
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