ID:TMLH_HUMAN DESCRIPTION: RecName: Full=Trimethyllysine dioxygenase, mitochondrial; EC=1.14.11.8; AltName: Full=Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; AltName: Full=Epsilon-trimethyllysine hydroxylase; AltName: Full=TML hydroxylase; AltName: Full=TML-alpha-ketoglutarate dioxygenase; Short=TML dioxygenase; Short=TMLD; Flags: Precursor; FUNCTION: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML). CATALYTIC ACTIVITY: N(6),N(6),N(6)-trimethyl-L-lysine + 2- oxoglutarate + O(2) = 3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine + succinate + CO(2). COFACTOR: Binds 1 Fe(2+) ion per subunit (By similarity). COFACTOR: Ascorbate. PATHWAY: Amine and polyamine biosynthesis; carnitine biosynthesis. SUBUNIT: Homodimer (By similarity). SUBCELLULAR LOCATION: Mitochondrion matrix. TISSUE SPECIFICITY: All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle. DISEASE: Defects in TMLHE are the cause of epsilon-trimethyllysine hydroxylase deficiency (TMLHED) [MIM:300872]. An inborn error of carnitine biosynthesis associated with an increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. SIMILARITY: Belongs to the gamma-BBH/TMLD family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NVH6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005506 iron ion binding GO:0016491 oxidoreductase activity GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0046872 metal ion binding GO:0050353 trimethyllysine dioxygenase activity GO:0051213 dioxygenase activity
Biological Process: GO:0045329 carnitine biosynthetic process GO:0051354 negative regulation of oxidoreductase activity GO:0055114 oxidation-reduction process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
