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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: TMLHE
Protein SuperFamily: gamma-butyrobetaine dioxygenase

Human
homologs
TMLHE, trimethyllysine hydroxylase, epsilon
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 55217
neXtProt AC: NX_Q9NVH6

Human Synonyms: AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130

Human Chr (Location): Xq28; chrX:155489011-155612961 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human TMLHE

Interactions
Tmlhe interacts with 17 markers (Mir16-1, Mir183, Mir325, ...)
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 16
RT-PCR 6
cDNA source data(16)
Other mouse links: Allen Institute   GEO  
Other vertebrate links: GEISHA TMLHE ; Xenbase tmlhe    NEW 
Molecular
reagents
All nucleic(17) cDNA(16) Primer pair(1)
Microarray probesets(3)
Other database
links
Entrez Gene 192289 (Evidence)
UniGene 394228
DFCI TC1585625, TC1621229, TC1620734
DoTS DT.87067970, DT.91413157, DT.94251072
NIA Mouse Gene Index U021080
EC 1.14.11.8
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(21)
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
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory