Homo sapiens Gene: TMLHE
Summary
InnateDB Gene IDBG-92525.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMLHE
Gene Name trimethyllysine hydroxylase, epsilon
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000185973
Encoded Proteins
trimethyllysine hydroxylase, epsilon
trimethyllysine hydroxylase, epsilon
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:155490115-155669944
Strand Reverse strand
Band q28
Transcripts
ENST00000334398 ENSP00000335261
ENST00000369439 ENSP00000358447
ENST00000449645
ENST00000487422
ENST00000474677
ENST00000461075
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0031418 L-ascorbic acid binding
GO:0050353 trimethyllysine dioxygenase activity
Biological Process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0045329 carnitine biosynthetic process
GO:0051354 negative regulation of oxidoreductase activity
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Carnitine synthesis pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Lysine degradation pathway
INOH
Lysine degradation pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.133321
RefSeq NM_001184797 NM_018196
HUGO
OMIM
CCDS CCDS14768 CCDS55547
HPRD 06743
IMGT
EMBL
GenPept
RNA Seq Atlas