• Gene id: 91801

Gene Summary

• Gene Symbol: ALKBH8   Gene   UCSC   Ensembl
• Aliases: ABH8, MRT71, TRM9, TRMT9, TRMT9A
• Gene name: alkB homolog 8, tRNA methyltransferase
• Alternate names: alkylated DNA repair protein alkB homolog 8, AlkB homologue 8, S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8, alkB, alkylation repair homolog 8, probable alpha-ketoglutarate-dependent dioxygenase ABH8, tRNA (carboxymethyluridine(34)-5-O)-methyl,
• Gene location: 11q22.3 (107565736: 107502725)     Exons: 13     NC_000011.10
• OMIM: 160781

Protein Summary

• Protein general information: Q96BT7  
  • Name: Alkylated DNA repair protein alkB homolog 8 (EC 1.14.11. ) (Probable alpha ketoglutarate dependent dioxygenase ABH8) (S adenosyl L methionine dependent tRNA methyltransferase ABH8) (tRNA (carboxymethyluridine(34) 5 O) methyltransferase ABH8) (EC 2.1.1.229
  • Length: 664  
  • Mass: 75208
  • Tissue specificity: Widely expressed, with highest expression in spleen, followed by pancreas and lung. {ECO
• Sequence:

  MDSNHQSNYKLSKTEKKFLRKQIKAKHTLLRHEGIETVSYATQSLVVANGGLGNGVSRNQLLPVLEKCGLVDALL
  MPPNKPYSFARYRTTEESKRAYVTLNGKEVVDDLGQKITLYLNFVEKVQWKELRPQALPPGLMVVEEIISSEEEK
  MLLESVDWTEDTDNQNSQKSLKHRRVKHFGYEFHYENNNVDKDKPLSGGLPDICESFLEKWLRKGYIKHKPDQMT
  INQYEPGQGIPAHIDTHSAFEDEIVSLSLGSEIVMDFKHPDGIAVPVMLPRRSLLVMTGESRYLWTHGITCRKFD
  TVQASESLKSGIITSDVGDLTLSKRGLRTSFTFRKVRQTPCNCSYPLVCDSQRKETPPSFPESDKEASRLEQEYV
  HQVYEEIAGHFSSTRHTPWPHIVEFLKALPSGSIVADIGCGNGKYLGINKELYMIGCDRSQNLVDICRERQFQAF
  VCDALAVPVRSGSCDACISIAVIHHFATAERRVAALQEIVRLLRPGGKALIYVWAMEQEYNKQKSKYLRGNRNSQ
  GKKEEMNSDTSVQRSLVEQMRDMGSRDSASSVPRINDSQEGGCNSRQVSNSKLPVHVNRTSFYSQDVLVPWHLKG
  NPDKGKPVEPFGPIGSQDPSPVFHRYYHVFREGELEGACRTVSDVRILQSYYDQGNWCVILQKA

• Structural information:
  • Protein Domains: (43..12-)
    (/note="RRM-)
    (220..33-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR027450  IPR015095  IPR032863  IPR034256  IPR013216   IPR012677  IPR005123  IPR035979  IPR029063  
  • Prosite: PS51471
  • CDD: cd12431
  • PDB: 2CQ2 3THP 3THT
  • PDBsum: 2CQ2 3THP 3THT
  • STRING: ENSP00000397673
• Other Databases: GeneCards:  ALKBH8  Malacards:  ALKBH8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000049	tRNA binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0030488	tRNA methylation	IDA	biological process
GO:0016300	tRNA (uracil) methyltransferase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0002098	tRNA wobble uridine modification	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005506	iron ion binding	ISS	molecular function
GO:0030488	tRNA methylation	IMP	biological process
GO:0002098	tRNA wobble uridine modification	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016300	tRNA (uracil) methyltransferase activity	IEA	molecular function
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IEA	molecular function
GO:0030488	tRNA methylation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0002098	tRNA wobble uridine modification	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0030488	tRNA methylation	IEA	biological process
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IEA	molecular function
GO:0016300	tRNA (uracil) methyltransferase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0002098	tRNA wobble uridine modification	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray