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

    Gene ID: 55217, updated on 12-Mar-2017
    Official Symbol
    TMLHEprovided by HGNC
    Official Full Name
    trimethyllysine hydroxylase, epsilonprovided by HGNC
    Primary source
    HGNC:HGNC:18308
    See related
    Ensembl:ENSG00000185973 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]
    Orthologs
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (155489007..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 RTK signaling antagonist 3 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 2 Neighboring gene diphthamide biosynthesis 3 pseudogene 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Autism, susceptibility to, X-linked 6
    MedGen: C3550875 OMIM: 300872 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

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

    ClinGen Genome Curation Page
    Haploinsufficency

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

    ClinGen Genome Curation PagePubMed
    • Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
      Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
    • 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 that 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

    Clone Names

    • FLJ10727

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
    Inferred from Electronic Annotation
    more info
     
    trimethyllysine dioxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    trimethyllysine dioxygenase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    carnitine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    carnitine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    carnitine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    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
    TML hydroxylase
    TML-alpha-ketoglutarate dioxygenase
    butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2
    epsilon-trimethyllysine 2-oxoglutarate dioxygenase
    epsilon-trimethyllysine hydroxylase
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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 (2) summary
      cd00250
      Location:142344
      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 ...
      cl01414
      Location:54133
      DUF971; Protein of unknown function (DUF971)
    2. NM_018196.3NP_060666.1  trimethyllysine dioxygenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for 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
      Related
      ENSP00000335261, OTTHUMP00000024255, ENST00000334398, OTTHUMT00000058817
      Conserved Domains (3) summary
      cd00250
      Location:142408
      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 ...
      TIGR02410
      Location:70419
      carnitine_TMLD; trimethyllysine dioxygenase
      cl01414
      Location:54133
      DUF971; Protein of unknown function (DUF971)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      155489007..155612961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531182.2XP_011529484.1  trimethyllysine dioxygenase, mitochondrial isoform X1

      Conserved Domains (3) summary
      cd00250
      Location:91357
      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 ...
      TIGR02410
      Location:19368
      carnitine_TMLD; trimethyllysine dioxygenase
      cl01414
      Location:1082
      DUF971; Protein of unknown function (DUF971)
    2. XM_017029620.1XP_016885109.1  trimethyllysine dioxygenase, mitochondrial isoform X2

    RNA

    1. XR_247318.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

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