Gene
tmlhe
- ID
- ZDB-GENE-091204-144
- Name
- trimethyllysine hydroxylase, epsilon
- Symbol
- tmlhe Nomenclature History
- Previous Names
-
- si:ch211-145n14.3
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have iron ion binding activity and trimethyllysine dioxygenase activity. Predicted to be involved in carnitine biosynthetic process. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TMLHE (trimethyllysine hydroxylase, epsilon).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| {Autism, susceptibility to, X-linked 6} | 300872 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003819 | TauD/TfdA-like domain |
| Domain | IPR010376 | Gamma-butyrobetaine hydroxylase-like, N-terminal |
| Family | IPR012776 | Trimethyllysine dioxygenase |
| Family | IPR050411 | Alpha-ketoglutarate-dependent hydroxylases |
| Homologous_superfamily | IPR038492 | GBBH-like, N-terminal domain superfamily |
| Homologous_superfamily | IPR042098 | Taurine dioxygenase TauD-like superfamily |
Domain Details Per Protein
| Protein | Length | Alpha-ketoglutarate-dependent hydroxylases | Gamma-butyrobetaine hydroxylase-like, N-terminal | GBBH-like, N-terminal domain superfamily | TauD/TfdA-like domain | Taurine dioxygenase TauD-like superfamily | Trimethyllysine dioxygenase |
|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F0M9
|
410 |
Interactions and Pathways
No data available
Plasmids
No data available