| Gene Information | |
|---|---|
| Gene Name | TMLHE |
| Organism | Homo sapiens (Human) |
| Gene Length | 421 |
| 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) |
| Target Name | trimethyllysine dioxygenase, mitochondrial |
| Target Type | NA |
| Gene Age | 950 ( ENSG00000185973 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | Q9NVH6 |
| Gene Card | TMLHE |
| Uniprot ID | Q9NVH6 |
| Pfam | PF06155; PF02668 |
| In ASD | no |
| Allosteric Prediction | no (-0.934448496) |
| Ortholog in Animals | Alpaca_ TMLHE ( ortholog_one2one ) GuineaPig_ TMLHE ( ortholog_one2one ) Macaque_ TMLHE ( ortholog_one2one ) Pig_ TMLHE ( ortholog_one2one ) Rat_ Tmlhe ( ortholog_one2one ) Rabbit_ TMLHE ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | BBOX1 |
| Tissue | NA |
| Tissue Specificity | All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle. {ECO:0000269|PubMed:15754339, ECO:0000269|PubMed:17408883}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs869320708 rs782001959 |
| Subcellular location [CC] | Mitochondrion matrix {ECO:0000269|PubMed:15754339}. |
| Mouse PG classification | NA |
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