Names & Taxonomy
- Uniprot ID:
- Q9NVH6
- Entry Name:
- TMLH_HUMAN
- Status:
- reviewed
- Protein Names:
- Trimethyllysine dioxygenase, mitochondrial (EC 1.14.11.8) (Epsilon-trimethyllysine 2-oxoglutarate dioxygenase) (Epsilon-trimethyllysine hydroxylase) (TML hydroxylase) (TML-alpha-ketoglutarate dioxygenase) (TML dioxygenase) (TMLD)
- Gene Names:
- TMLHE TMLH
- Gene Names Primary:
- TMLHE
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 421
- Sequence:
- MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQA
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Mitochondrion matrix
Function
- Function:
- Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
- Pathway:
- Amine and polyamine biosynthesis; carnitine biosynthesis.
- 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:
- COFACTOR: Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
- Cross Reference Drug Bank:
- DB00139 DB00126
- Gene Ontology Go:
- mitochondrial matrix
mitochondrion
iron ion binding
L-ascorbic acid binding
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
trimethyllysine dioxygenase activity
branched-chain amino acid catabolic process
carnitine biosynthetic process
cellular nitrogen compound metabolic process
negative regulation of oxidoreductase activity
oxidation-reduction process
small molecule metabolic process - Gene Ontology Biological Process:
- branched-chain amino acid catabolic process
carnitine biosynthetic process
cellular nitrogen compound metabolic process
negative regulation of oxidoreductase activity
oxidation-reduction process
small molecule metabolic process - Gene Ontology Molecular Function:
- iron ion binding
L-ascorbic acid binding
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
trimethyllysine dioxygenase activity - Gene Ontology Cellular Component:
- mitochondrial matrix
mitochondrion - Keywords:
- Acetylation
Alternative promoter usage
Alternative splicing
Autism
Autism spectrum disorder
Carnitine biosynthesis
Complete proteome
Dioxygenase
Iron
Metal-binding
Mitochondrion
Oxidoreductase
Reference proteome
Transit peptide