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

    Gene ID: 55217, updated on 23-Nov-2023

    Summary

    Official Symbol
    TMLHEprovided by HGNC
    Official Full Name
    trimethyllysine hydroxylase, epsilonprovided by HGNC
    Primary source
    HGNC:HGNC:18308
    See related
    Ensembl:ENSG00000185973 MIM:300777; AllianceGenome:HGNC:18308
    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]
    Expression
    Ubiquitous expression in heart (RPKM 6.4), fat (RPKM 5.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TMLHE in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155489011..155612952, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153718334..153838175, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154718672..154842613, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene int22h-3 recombination region Neighboring gene microRNA 1184-3 Neighboring gene TMLHE antisense RNA 1 Neighboring gene H2A.B variant histone 3 Neighboring gene coagulation factor VIII associated 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30078 Neighboring gene sprouty RTK signaling antagonist 3 Neighboring gene meiotic recombination hotspot PAR2A Neighboring gene meiotic recombination hotspot PAR2 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 2 Neighboring gene diphthamide biosynthesis 3 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Epsilon-trimethyllysine hydroxylase deficiency
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10727

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables trimethyllysine dioxygenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carnitine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carnitine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carnitine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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
    XP_011529484.1
    XP_016885109.1
    XP_047298190.1
    XP_047298191.1
    XP_047298192.1
    XP_054183321.1
    XP_054183322.1
    XP_054183323.1
    XP_054183324.1
    XP_054183325.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5010..128951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184797.2NP_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
      ENSP00000358447.4, ENST00000369439.4
      Conserved Domains (1) summary
      cl26676
      Location:70332
      TauD; Taurine dioxygenase, alpha-ketoglutarate-dependent [Secondary metabolites biosynthesis, transport and catabolism]
    2. NM_018196.4NP_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
      A8K6M9, B4E3R3, Q5TZB5, Q6IA90, Q8TBT0, Q9NVH6
      Related
      ENSP00000335261.3, ENST00000334398.8
      Conserved Domains (1) summary
      TIGR02410
      Location:70419
      carnitine_TMLD; trimethyllysine dioxygenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      155489011..155612952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442235.1XP_047298191.1  trimethyllysine dioxygenase, mitochondrial isoform X2

    2. XM_047442234.1XP_047298190.1  trimethyllysine dioxygenase, mitochondrial isoform X1

    3. XM_011531182.4XP_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)
    4. XM_047442236.1XP_047298192.1  trimethyllysine dioxygenase, mitochondrial isoform X2

    5. XM_017029620.3XP_016885109.1  trimethyllysine dioxygenase, mitochondrial isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      153718334..153838175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327348.1XP_054183323.1  trimethyllysine dioxygenase, mitochondrial isoform X2

    2. XM_054327346.1XP_054183321.1  trimethyllysine dioxygenase, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      A8K6M9, B4E3R3, Q5TZB5, Q6IA90, Q8TBT0, Q9NVH6
    3. XM_054327347.1XP_054183322.1  trimethyllysine dioxygenase, mitochondrial isoform X1

    4. XM_054327349.1XP_054183324.1  trimethyllysine dioxygenase, mitochondrial isoform X2

    5. XM_054327350.1XP_054183325.1  trimethyllysine dioxygenase, mitochondrial isoform X3