Version 5.4
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
IDBP-92527
trimethyllysine hydroxylase, epsilon
IDBP-92529
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
REACT_2125
Carnitine synthesis pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00310
Lysine degradation pathway
INOH
INOH website
Lysine degradation pathway
PID NCI
Cross-References
SwissProt Q9NVH6
TrEMBL
UniProt Splice Variant
Entrez Gene 55217
UniGene Hs.133321
RefSeq NM_001184797 NM_018196
HUGO HGNC:18308
OMIM 300777
CCDS CCDS55547 CCDS14768
HPRD 06743
IMGT
EMBL AF373407 AK001589 AK291694 AK304830 AK310667 AM393196 BC025269 BX276110 CR457265
GenPept AAH25269 AAL01871 BAA91775 BAF84383 BAG65575 CAG33546 CAH71441 CAH71442 CAL38074
RNA Seq Atlas 55217

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca