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

Gene ID: 67667, updated on 12-May-2024

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
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Genomic context

See Alkbh8 in Genome Data Viewer
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_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23119 Neighboring gene predicted gene, 31138 Neighboring gene olfactory receptor family 2 subfamily N member 2, pseudogene 1 Neighboring gene STARR-positive B cell enhancer mm9_chr9:3258734-3259035 Neighboring gene STARR-seq mESC enhancer starr_23120 Neighboring gene STARR-seq mESC enhancer starr_23121 Neighboring gene STARR-positive B cell enhancer ABC_E9751 Neighboring gene predicted gene, 24918 Neighboring gene STARR-seq mESC enhancer starr_23124 Neighboring gene STARR-positive B cell enhancer mm9_chr9:3403367-3403668 Neighboring gene predicted gene, 23275 Neighboring gene CWF19 like cell cycle control factor 2 Neighboring gene STARR-seq mESC enhancer starr_23127

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (3)  1 citation

Pathways from PubChem

General gene information

Markers

Clone Names

  • MGC10235

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

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
NP_001391966.1
NP_001391967.1
NP_080579.1
XP_006509944.1
XP_006509946.1
XP_036011094.1
XP_036011095.1
XP_036011096.1

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)

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

    Status: VALIDATED

    Source sequence(s)
    AC162921
  2. NM_001405037.1NP_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
  3. NM_001405038.1NP_001391967.1  alkylated DNA repair protein alkB homolog 8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC162921
  4. NM_026303.2NP_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:137
    DUF1891; Domain of unknown function (DUF1891)
    cd12431
    Location:42122
    RRM_ALKBH8; RNA recognition motif in alkylated DNA repair protein alkB homolog 8 (ALKBH8) and similar proteins
    pfam13649
    Location:410497
    Methyltransf_25; Methyltransferase domain
    cl21496
    Location:152334
    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

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    3335151..3391154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    pfam13649
    Location:151238
    Methyltransf_25; Methyltransferase domain
    cl21496
    Location:144
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  2. XM_036155201.1XP_036011094.1  alkylated DNA repair protein alkB homolog 8 isoform X4

    Conserved Domains (2) summary
    pfam13649
    Location:151238
    Methyltransf_25; Methyltransferase domain
    cl21496
    Location:144
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  3. XM_036155203.1XP_036011096.1  alkylated DNA repair protein alkB homolog 8 isoform X4

    Conserved Domains (2) summary
    pfam13649
    Location:151238
    Methyltransf_25; Methyltransferase domain
    cl21496
    Location:144
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  4. XM_006509881.3XP_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:335422
    Methyltransf_25; Methyltransferase domain
    cl17169
    Location:147
    RRM_SF; RNA recognition motif (RRM) superfamily
    cl21496
    Location:77259
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  5. XM_036155202.1XP_036011095.1  alkylated DNA repair protein alkB homolog 8 isoform X4

    Conserved Domains (2) summary
    pfam13649
    Location:151238
    Methyltransf_25; Methyltransferase domain
    cl21496
    Location:144
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily