About   Help   FAQ
Tmlhe
Gene Detail
 Symbol
Name
ID
Tmlhe
trimethyllysine hydroxylase, epsilon
MGI:2180203
Synonyms Bbox2, D430017M14Rik, TMLH
Feature Type protein coding gene
Genetic Map
Chromosome X
Syntenic
Vertebrate
homology
HomoloGene:21853  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: gamma-butyrobetaine dioxygenase

Human
homologs
Human Homolog TMLHE, trimethyllysine hydroxylase, epsilon
NCBI Gene ID 55217
neXtProt AC  NX_Q9NVH6
Human Synonyms  AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
Human Chr (Location)  Xq28; chrX:155489011-155612961 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human TMLHE
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process carnitine biosynthetic process, negative regulation of oxidoreductase activity, ...
Component mitochondrion
Function dioxygenase activity, iron ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (22)    Tissues (18)   
Theiler Stages: 14, 17, 18, 20, 28
Assay TypeResults
RNA in situ 16
RT-PCR 6
cDNA source data(16)
External Resources: Allen Institute   GEO  
Molecular
reagents
All nucleic(17) cDNA(16) Primer pair(1)
Microarray probesets(3)
Other database
links
Entrez Gene192289 (Evidence)
UniGene394228
DFCITC1585625, TC1620734, TC1621229
DoTSDT.87067970, DT.91413157, DT.94251072
NIA Mouse Gene IndexU021080
EC1.14.11.8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
transcript NM_138758 RefSeq | MGI Sequence Detail 2264 FVB/N 
polypeptide Q91ZE0 UniProt | EBI | MGI Sequence Detail 421 Not Applicable 

For the selected sequences
All sequences(19) RefSeq(4) UniProt(1)
Protein-related
information
ResourceIDDescription
InterPro IPR010376 Domain of unknown function, DUF971
InterPro IPR003819 Taurine catabolism dioxygenase TauD/TfdA
InterPro IPR012776 Trimethyllysine dioxygenase
Protein Ontology PR:000016443 trimethyllysine dioxygenase, mitochondrial
Graphical View of Protein Domain Structure
References (Earliest) J:76186 Vaz FM, et al., Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. J Biol Chem. 2001 Sep 7;276(36):33512-7
(Latest) J:121424 Monfregola J, et al., Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. Gene. 2007 Jun 15;395(1-2):86-97
All references(22)
Other
accession IDs
MGI:1346032, MGI:2443676

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory