ALKBH8 (alkB homolog 8, tRNA methyltransferase)

2006-05-01  

Identity

HGNC
LOCATION
11q22.3
LOCUSID
ALIAS
ABH8,MRT71,TRM9,TRMT9,TRMT9A
FUSION GENES

Other Information

Locus ID:

NCBI: 91801
MIM: 613306
HGNC: 25189
Ensembl: ENSG00000137760

Variants:

dbSNP: 91801
ClinVar: 91801
TCGA: ENSG00000137760
COSMIC: ALKBH8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137760ENST00000260318Q96BT7
ENSG00000137760ENST00000389568Q96BT7
ENSG00000137760ENST00000393100C9JQN2
ENSG00000137760ENST00000417449Q96BT7
ENSG00000137760ENST00000428149Q96BT7
ENSG00000137760ENST00000429370Q96BT7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201239662010Mammalian ALKBH8 possesses tRNA methyltransferase activity required for the biogenesis of multiple wobble uridine modifications implicated in translational decoding.79
203083232010Human AlkB homolog ABH8 Is a tRNA methyltransferase required for wobble uridine modification and DNA damage survival.77
192931822009A novel human AlkB homologue, ALKBH8, contributes to human bladder cancer progression.53
212859502011ALKBH8-mediated formation of a novel diastereomeric pair of wobble nucleosides in mammalian tRNA.53
273298102016ALKBH8 promotes bladder cancer growth and progression through regulating the expression of survivin.5
310798982019Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.2

Citation

Dessen P

ALKBH8 (alkB homolog 8, tRNA methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2006-05-01

Online version: http://atlasgeneticsoncology.org/gene/43082/alkbh8-(alkb-homolog-8-trna-methyltransferase)