Showing entry for Trimethyllysine dioxygenase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021224
Protein NameTrimethyllysine dioxygenase, mitochondrial
Uniport IdQ9NVH6
GeneTMLHE
Gene Id55217
DomainDUF971; TauD
Pfam PF06155   PF02668  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.5 Amino acid metabolism hsa00310 Lysine degradation
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0045329 carnitine biosynthetic process
Biological Process GO:0051354 negative regulation of oxidoreductase activity
Biological Process GO:0055114 oxidation-reduction process
molecular function GO:0005506 iron ion binding
molecular function GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
molecular function GO:0050353 trimethyllysine dioxygenase activity
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-71262 Carnitine synthesis
R-HSA-71291 Metabolism of amino acids and derivatives
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0342788 BXGD007552 Renal carnitine transport defect Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1836830 BXGD014165 Developmental regression Mental Disorders
C1840379 BXGD014459 Cerebellar vermis hypoplasia
C1845977 BXGD014769 X- linked recessive
C1861172 BXGD016016 Venous Thromboembolism Cardiovascular Diseases
C2825857 BXGD017777 Factor VIII measurement
C3550875 BXGD019139 AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000764 L-Ascorbic acid 176.12
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein