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FLASH GENE
Symbol TMLHE contributors: mct - updated : 19-05-2016
HGNC name trimethyllysine hydroxylase, epsilon
HGNC id 18308
Corresponding disease
AUTSX6 autism spectrum disorder, X-linked 6
Location Xq28      Physical location : 154.718.674 - 154.842.622
Synonym name
  • trimethyllysine dioxygenase, mitochondrial precursor
  • 6-N-trimethyllysine dioxygenase
  • butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2
  • Synonym symbol(s) TMLH, BBOX2, XAP130, FLJ10727, TMLD
    EC.number 1.14.11.8
    DNA
    TYPE functioning gene
    STRUCTURE 123.95 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure
  • two alternative 5 prime TMLH first exons and seven alternative 3 prime-splice variants, which are spread over a genomic region of about 250 kb
  • presence of a CpG island, whose methylation-status could control the level of TMLH transcription
  • putative binding sites for transcription factors known to initiate transcription in CpG rich, TATA-less promoters such as Sp1
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • two pseudoexons (7aP and 8aP) that are highly homologous to exons 7a and 8a, and are imbedded in a large inverted repeat downstream of TMLHE; in addition, there are two alternative exons 7b and 8b, which are located between the two inverted repeats and have sequences unrelated to 7a and 8 (PMID: 22566635)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3961 - 421 - 2007 17408883
  • TMLH-a
  • C-terminal portion identifies a conserved domain characterized by a key triad of residues, His242-Glu244-His389 predicted to bind 2-oxoglutarate end
  • 7 - 1348 - 376 - 2007 17408883
  • TMLH-b
  • could act as a crucial physiological negative regulator of TMLHE
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrineparathyroid   predominantly
    Lymphoid/Immunethymus   moderately
    Nervousbrainlimbic systemhippocampus   Homo sapiens
     brainhindbraincerebellum highly Homo sapiens
    Respiratorylung   highly
    Urinarykidney    
    Visualeyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion highly in blood, moderately in lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal Mitochondrial Target Sequence (MTS
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Tmlhe (87.2pc)
    ortholog to murine Tmlhe (94.4pc)
    Homologene
    FAMILY GAMMA-BBH/TMLD family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    text
  • localized in mitochondria
  • basic FUNCTION
  • first and key enzyme in carnitine biosynthesis, converting trimethyllysine (TML) into hydroxytrimethyllysine (HTML)
  • is the first enzyme of the carnitine biosynthesis pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism aminoacid
    signaling
  • carnitine biosynthesis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Fe2+
  • ascorbate
  • protein
    cell & other
    REGULATION
    Other tight transcriptional and post-transcriptional control of TMLHE expression
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTSX6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS