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    Tmlhe trimethyllysine hydroxylase, epsilon [ Mus musculus (house mouse) ]

    Gene ID: 192289, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tmlheprovided by MGI
    Official Full Name
    trimethyllysine hydroxylase, epsilonprovided by MGI
    Primary source
    MGI:MGI:2180203
    See related
    AllianceGenome:MGI:2180203
    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
    TMLD; TMLH; Bbox2; D430017M14Rik
    Summary
    Enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and trimethyllysine dioxygenase activity. Acts upstream of or within carnitine biosynthetic process. Located in mitochondrion. Is expressed in several structures, including brain; liver; and lung. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TMLHE (trimethyllysine hydroxylase, epsilon). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See Tmlhe in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X Unlocalized Scaffold NT_165789.3 (251286..469175)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X Unlocalized Scaffold NT_165789.2 (159605..334431)

    NT_165789.3Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC115489310 Neighboring gene sprouty RTK signaling antagonist 3 Neighboring gene RAD9-HUS1-RAD1 interacting nuclear orphan 1 pseudogene Neighboring gene zinc finger protein 24 pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC130426

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in carnitine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within carnitine biosynthetic process IDA
    Inferred from Direct Assay
    more info
     
    involved_in carnitine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carnitine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in carnitine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of oxidoreductase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    trimethyllysine dioxygenase, mitochondrial
    Names
    TML dioxygenase
    TML hydroxylase
    TML-alpha-ketoglutarate dioxygenase
    butyrobetaine (gamma), 2-oxoglutarate dioxygenase 2 (gamma-butyrobetaine hydroxylase)
    epsilon-trimethyllysine 2-oxoglutarate dioxygenase
    NP_620097.1
    XP_006535917.1
    XP_036018102.1

    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_138758.2NP_620097.1  trimethyllysine dioxygenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_620097.1

      Status: VALIDATED

      Source sequence(s)
      AK052425, AK161724, CAAA01120074
      UniProtKB/Swiss-Prot
      Q3TSX6, Q3UMX1, Q91XH1, Q91ZE0
      Conserved Domains (1) summary
      TIGR02410
      Location:70419
      carnitine_TMLD; trimethyllysine dioxygenase

    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. NT_165789.3 Reference GRCm39 C57BL/6J

      Range
      251286..469175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535854.5XP_006535917.1  trimethyllysine dioxygenase, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl00184
      Location:70340
      CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
    2. XM_036162209.1XP_036018102.1  trimethyllysine dioxygenase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q3TSX6, Q3UMX1, Q91XH1, Q91ZE0
      Conserved Domains (1) summary
      TIGR02410
      Location:70419
      carnitine_TMLD; trimethyllysine dioxygenase