Alkbh8 alkB homolog 8, tRNA methyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alkbh8provided by MGI
Official Full Name: alkB homolog 8, tRNA methyltransferaseprovided by MGI
Primary source: MGI:MGI:1914917
See related: Ensembl:ENSMUSG00000025899 AllianceGenome:MGI:1914917
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Abh8; 4930562C03Rik; 8030431D03Rik; 9430088N01Rik
Summary: Enables 2-oxoglutarate-dependent dioxygenase activity; catalytic activity, acting on a tRNA; and iron ion binding activity. Involved in tRNA methylation and tRNA wobble uridine modification. Predicted to be located in cytosol and nuclear body. Predicted to be active in cytoplasm and nucleus. Is expressed in nervous system and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human ALKBH8 (alkB homolog 8, tRNA methyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E18 (RPKM 3.8), whole brain E14.5 (RPKM 3.5) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 2.02 cM; 9 A1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (3335151..3391154)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (3335231..3391154)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The epitranscriptomic writer ALKBH8 drives tolerance and protects mouse lungs from the environmental pollutant naphthalene.
Title: The epitranscriptomic writer ALKBH8 drives tolerance and protects mouse lungs from the environmental pollutant naphthalene.
Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming().
Title: Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming(☆).
Alkbh8 and tRNA modifications as central regulators of cellular oxidative stress responses in mammalian systems.
Title: Alkbh8 Regulates Selenocysteine-Protein Expression to Protect against Reactive Oxygen Species Damage.
Many eukaryotic tRNAs contain the wobble modification 5-methoxycarbonylmethyl-uridine (mcm5U). It is demonstrated that (R)- and (S)-5-methoxycarbonylhydroxymethyluridine (mchm5U), hydroxylated forms of mcm(5)U, are present in mammalian tRNA-Arg(UCG), and tRNA-Gly(UCC), respectively. It is shown that the hydroxylation reaction leading to the formation of (S)-mchm5U is catalyzed by the oxygenase (AlkB) domain of ALKBH8.
Title: ALKBH8-mediated formation of a novel diastereomeric pair of wobble nucleosides in mammalian tRNA.
The methyltransferase domain of ALKBH8 is demonstrated to be a functional homologue of the Saccharomyces cerevisiae Trm9 protein, mediating the last step in the formation of the wobble uridine modification 5-methoxycarbonylmethyl-uridine in tRNA. This modification is shown to be important for efficient selenoprotein synthesis. ALKBH8 knock-out mice are generated and described.
Title: Mammalian ALKBH8 possesses tRNA methyltransferase activity required for the biogenesis of multiple wobble uridine modifications implicated in translational decoding.
The AlkB domain of ALKBH8 specifically hydroxylates mcm(5)U into (S)-mchm(5)U in tRNA-Gly(UCC).
Title: ALKBH8-mediated formation of a novel diastereomeric pair of wobble nucleosides in mammalian tRNA.
Data show that ALKBH8 is a tRNA methyltransferase required for the final step in the biogenesis of mcm5U.
Title: Mammalian ALKBH8 possesses tRNA methyltransferase activity required for the biogenesis of multiple wobble uridine modifications implicated in translational decoding.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (3) 1 citation

General gene information

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Markers

Alkbh8 (e-PCR), detects polymorphism
- UniSTS:479149

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables S-adenosylmethionine-dependent methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables tRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA (uridine) methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables tRNA (uridine) methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables tRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA binding	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within methylation	IEA Inferred from Electronic Annotation more info
involved_in tRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA methylation	ISO Inferred from Sequence Orthology more info
involved_in tRNA wobble uridine modification	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA wobble uridine modification	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA wobble uridine modification	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alkylated DNA repair protein alkB homolog 8

Names: S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8; alkB, alkylation repair homolog 8; probable alpha-ketoglutarate-dependent dioxygenase ABH8; tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8

NP_001391965.1

EC 2.1.1.229

NP_001391966.1

EC 2.1.1.229

NP_001391967.1

EC 2.1.1.229

NP_080579.1

EC 2.1.1.229

XP_006509944.1

EC 2.1.1.229

XP_006509946.1

EC 2.1.1.229

XP_036011094.1

EC 2.1.1.229

XP_036011095.1

EC 2.1.1.229

XP_036011096.1

EC 2.1.1.229

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001405036.1 → NP_001391965.1 alkylated DNA repair protein alkB homolog 8 isoform 1

Status: VALIDATED

Source sequence(s)

AC162921
NM_001405037.1 → NP_001391966.1 alkylated DNA repair protein alkB homolog 8 isoform 2

Status: VALIDATED

Source sequence(s)

AC162921

UniProtKB/Swiss-Prot

Q3TUG4, Q80Y20, Q8BV08, Q9CX44

Related

ENSMUSP00000061511.6, ENSMUST00000053407.13
NM_001405038.1 → NP_001391967.1 alkylated DNA repair protein alkB homolog 8 isoform 3

Status: VALIDATED

Source sequence(s)

AC162921
NM_026303.2 → NP_080579.1 alkylated DNA repair protein alkB homolog 8 isoform 2

See identical proteins and their annotated locations for NP_080579.1

Status: VALIDATED

Source sequence(s)

AC162921

Consensus CDS

CCDS22792.1

UniProtKB/Swiss-Prot

Q3TUG4, Q80Y20, Q8BV08, Q9CX44

Related

ENSMUSP00000125996.2, ENSMUST00000165105.2

Conserved Domains (4) summary

pfam09004
Location:1 → 37

DUF1891; Domain of unknown function (DUF1891)

cd12431
Location:42 → 122

RRM_ALKBH8; RNA recognition motif in alkylated DNA repair protein alkB homolog 8 (ALKBH8) and similar proteins

pfam13649
Location:410 → 497

Methyltransf_25; Methyltransferase domain

cl21496
Location:152 → 334

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

3335151..3391154

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006509883.3 → XP_006509946.1 alkylated DNA repair protein alkB homolog 8 isoform X4

Conserved Domains (2) summary

pfam13649
Location:151 → 238

Methyltransf_25; Methyltransferase domain

cl21496
Location:1 → 44

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
XM_036155201.1 → XP_036011094.1 alkylated DNA repair protein alkB homolog 8 isoform X4

Conserved Domains (2) summary

pfam13649
Location:151 → 238

Methyltransf_25; Methyltransferase domain

cl21496
Location:1 → 44

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
XM_036155203.1 → XP_036011096.1 alkylated DNA repair protein alkB homolog 8 isoform X4

Conserved Domains (2) summary

pfam13649
Location:151 → 238

Methyltransf_25; Methyltransferase domain

cl21496
Location:1 → 44

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
XM_006509881.3 → XP_006509944.1 alkylated DNA repair protein alkB homolog 8 isoform X3

See identical proteins and their annotated locations for XP_006509944.1

Conserved Domains (3) summary

pfam13649
Location:335 → 422

Methyltransf_25; Methyltransferase domain

cl17169
Location:1 → 47

RRM_SF; RNA recognition motif (RRM) superfamily

cl21496
Location:77 → 259

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
XM_036155202.1 → XP_036011095.1 alkylated DNA repair protein alkB homolog 8 isoform X4

Conserved Domains (2) summary

pfam13649
Location:151 → 238

Methyltransf_25; Methyltransferase domain

cl21496
Location:1 → 44

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily