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

Gene ID: 192289, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Low cardiac content of long-chain acylcarnitines in TMLHE knockout mice prevents ischaemia-reperfusion-induced mitochondrial and cardiac damage. Liepinsh E, et al. Free Radic Biol Med, 2021 Dec. PMID 34728372
  2. Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels. Liepinsh E, et al. Mol Autism, 2023 Aug 8. PMID 37553674, Free PMC Article
  3. Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. Monfregola J, et al. Gene, 2007 Jun 15. PMID 17408883
  4. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. Monfregola J, et al. J Cell Physiol, 2005 Sep. PMID 15754339
  5. Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. Vaz FM, et al. J Biol Chem, 2001 Sep 7. PMID 11431483

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels.
    Title: Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels.
  2. TMLH expression is present at E12.5 dpc in the liver, lung and brain, and is then maintained in the postnatal brain with a specific neuronal pattern.
    Title: Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.
  3. C-terminal region of TMLH contains the main determinants for its enzymatic activity including a key H389 residue
    Title: Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC130426

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA
Inferred from Direct Assay
more info
  
enables trimethyllysine dioxygenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables trimethyllysine dioxygenase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables trimethyllysine dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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

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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)

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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_138758.2 → NP_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:70 → 419
    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_006535854.5 → XP_006535917.1  trimethyllysine dioxygenase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl00184
    Location:70 → 340
    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_036162209.1 → XP_036018102.1  trimethyllysine dioxygenase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3TSX6, Q3UMX1, Q91XH1, Q91ZE0
    Conserved Domains (1) summary
    TIGR02410
    Location:70 → 419
    carnitine_TMLD; trimethyllysine dioxygenase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91ZE0.2 GenPept UniProtKB/Swiss-Prot:Q91ZE0

Gene LinkOut

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