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

    Gene ID: 67667, updated on 27-Dec-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 iron ion binding activity and tRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity. Involved in tRNA methylation and tRNA wobble uridine modification. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including blastocyst; early embryo; nervous system; secondary oocyte; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 71. Orthologous to human ALKBH8 (alkB homolog 8, tRNA methyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E18 (RPKM 3.8), whole brain E14.5 (RPKM 3.5) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    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 S-adenosylmethionine-dependent methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 (uridine) methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    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 tRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    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 methylation ISS
    Inferred from Sequence or Structural Similarity
    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 cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    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
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8; alkylated DNA repair protein alkB homolog 8
    Names
    S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8
    S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8
    alkB, alkylation repair homolog 8
    alpha-ketoglutarate-dependent dioxygenase ALKBH8
    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)

    NEW Try the new Transcript table

    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  tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC162921
    2. NM_001405037.1NP_001391966.1  tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 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  tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC162921
    4. NM_026303.2NP_080579.1  tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 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