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TMLHE trimethyllysine hydroxylase, epsilon [ Homo sapiens (human) ]

Gene ID: 55217, updated on 19-Jul-2014
Official Symbol
TMLHEprovided by HGNC
Official Full Name
trimethyllysine hydroxylase, epsilonprovided by HGNC
Primary source
HGNC:18308
See related
Ensembl:ENSG00000185973; HPRD:06743; MIM:300777; Vega:OTTHUMG00000022674
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130
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]
See TMLHE in Epigenomics, MapViewer
Location:
Xq28
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (155489011..155612961, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154718672..154842622, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene microRNA 1184-3 Neighboring gene TMLHE antisense RNA 1 Neighboring gene H2A histone family, member B3 Neighboring gene coagulation factor VIII-associated 3 Neighboring gene sprouty homolog 3 (Drosophila) Neighboring gene adenosylmethionine decarboxylase pseudogene 1 Neighboring gene vesicle-associated membrane protein 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Epsilon-trimethyllysine hydroxylase deficiency
MedGen: CN130016 OMIM: 300872 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-08-01)

ISCA Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2013-08-01)

ISCA Genome Curation PagePubMed
  • Carnitine synthesis, organism-specific biosystem (from REACTOME)
    Carnitine synthesis, organism-specific biosystemCarnitine is synthesized in four steps from trimethyllysine (generated in turn by the S-adenosyl-methionine-mediated methylation of lysine residues in proteins, followed by protein hydrolysis). The e...
  • L-carnitine biosynthesis, organism-specific biosystem (from BIOCYC)
    L-carnitine biosynthesis, organism-specific biosystemGeneral Background : CARNITINE is a zwitterionic, quaternary amine carboxylate. It has essential roles in intermediary metabolism including energy metabolism, hormonal action and stress adaptation....
  • L-carnitine biosynthesis, conserved biosystem (from BIOCYC)
    L-carnitine biosynthesis, conserved biosystemGeneral Background |FRAME: CARNITINE| is a zwitterionic, quaternary amine carboxylate. It has essential roles in intermediary metabolism including energy metabolism, hormonal action and stress adap...
  • Lysine degradation, organism-specific biosystem (from KEGG)
    Lysine degradation, organism-specific biosystem
    Lysine degradation
  • Lysine degradation, conserved biosystem (from KEGG)
    Lysine degradation, conserved biosystem
    Lysine degradation
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
carnitine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
carnitine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
carnitine biosynthetic process TAS
Traceable Author Statement
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
trimethyllysine dioxygenase, mitochondrial
Names
trimethyllysine dioxygenase, mitochondrial
TML hydroxylase
TML-alpha-ketoglutarate dioxygenase
epsilon-trimethyllysine hydroxylase
epsilon-trimethyllysine 2-oxoglutarate dioxygenase
butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2
NP_001171726.1
NP_060666.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021318.1 

    Range
    5001..128951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184797.1NP_001171726.1  trimethyllysine dioxygenase, mitochondrial isoform 2 precursor

    See proteins identical to NP_001171726.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region differences, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC025269, DA323339, DB174485
    Consensus CDS
    CCDS55547.1
    UniProtKB/Swiss-Prot
    Q9NVH6
    Related
    ENSP00000358447, OTTHUMP00000031823, ENST00000369439, OTTHUMT00000058818
    Conserved Domains (1) summary
    cd00250
    Location:142344
    Blast Score: 472
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
  2. NM_018196.3NP_060666.1  trimethyllysine dioxygenase, mitochondrial isoform 1 precursor

    See proteins identical to NP_060666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK001589, BX571846, DB174485
    Consensus CDS
    CCDS14768.1
    UniProtKB/Swiss-Prot
    Q9NVH6
    Conserved Domains (2) summary
    TIGR02410
    Location:70419
    Blast Score: 1509
    carnitine_TMLD; trimethyllysine dioxygenase
    cd00250
    Location:142408
    Blast Score: 709
    CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    155489011..155612961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_247318.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    143232719..143323711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    154630300..154754464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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