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Tmlhe trimethyllysine hydroxylase, epsilon [ Rattus norvegicus (Norway rat) ]

Gene ID: 170898, updated on 3-Apr-2024

Summary

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Official Symbol
Tmlheprovided by RGD
Official Full Name
trimethyllysine hydroxylase, epsilonprovided by RGD
Primary source
RGD:620629
See related
Ensembl:ENSRNOG00000000729 AllianceGenome:RGD:620629
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
Tmlh
Summary
Enables trimethyllysine dioxygenase activity. Predicted to be involved in carnitine biosynthetic process and negative regulation of oxidoreductase activity. Located in mitochondrion. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TMLHE (trimethyllysine hydroxylase, epsilon). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Kidney (RPKM 853.6), Adrenal (RPKM 110.3) and 6 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Tmlhe in Genome Data Viewer
Location:
20p12
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (96561..144414)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (91234..138942)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (237461..285125)

Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene solute carrier family 37, member 3, pseudogene 1 Neighboring gene COBW domain containing 1, pseudogene 1 Neighboring gene DND microRNA-mediated repression inhibitor 1, pseudogene 3 Neighboring gene chloride intracellular channel 2 Neighboring gene lysine methyltransferase 5C, pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Nava C, et al. Transl Psychiatry, 2012 Oct 23. PMID 23092983, Free PMC Article
  2. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. Monfregola J, et al. J Cell Physiol, 2005 Sep. PMID 15754339
  3. Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. Vaz FM, et al. J Biol Chem, 2001 Sep 7. PMID 11431483
  4. Structural basis of allotypes of ecto-nucleotide pyrophosphatase/phosphodiesterase (plasma cell membrane glycoprotein PC-1) in the mouse and rat, and analysis of allele-specific xenogeneic antibodies. Banakh I, et al. Eur J Immunogenet, 2002 Aug. PMID 12121276
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • MGC94841

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ISO
Inferred from Sequence Orthology
more info
  
enables trimethyllysine dioxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables trimethyllysine dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
NOT enables trimethyllysine dioxygenase activity ISO
Inferred from Sequence Orthology
more info
  
enables trimethyllysine dioxygenase activity ISO
Inferred from Sequence Orthology
more info
  
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
  
acts_upstream_of_or_within carnitine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in carnitine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in carnitine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in carnitine biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
trimethyllysine dioxygenase, mitochondrial
Names
TML dioxygenase
TML hydroxylase
TML-alpha-ketoglutarate dioxygenase
TMLD
epsilon-trimethyllysine 2-oxoglutarate dioxygenase
epsilon-trimethyllysine hydroxylase
NP_596878.2
XP_006255917.1
XP_038954326.1
XP_038954329.1
XP_063135014.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_133387.2 → NP_596878.2  trimethyllysine dioxygenase, mitochondrial

    See identical proteins and their annotated locations for NP_596878.2

    Status: PROVISIONAL

    Source sequence(s)
    BC085923
    UniProtKB/Swiss-Prot
    Q91ZW6
    Related
    ENSRNOP00000068031.1, ENSRNOT00000076901.3
    Conserved Domains (3) summary
    cd00250
    Location:154 → 420
    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:82 → 431
    carnitine_TMLD; trimethyllysine dioxygenase
    pfam06155
    Location:70 → 145
    DUF971; Protein of unknown function (DUF971)

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086038.1 Reference GRCr8

    Range
    96561..144414
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006255855.3 → XP_006255917.1  trimethyllysine dioxygenase, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_006255917.1

    UniProtKB/Swiss-Prot
    Q5U2P7, Q91ZW6
    UniProtKB/TrEMBL
    A6KR34
    Related
    ENSRNOP00000068322.1
    Conserved Domains (3) summary
    cd00250
    Location:142 → 408
    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:70 → 419
    carnitine_TMLD; trimethyllysine dioxygenase
    pfam06155
    Location:54 → 133
    DUF971; Protein of unknown function (DUF971)

  2. XM_063278944.1 → XP_063135014.1  trimethyllysine dioxygenase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A8L2QMT7

  3. XM_039098398.2 → XP_038954326.1  trimethyllysine dioxygenase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A8L2QMT7
    Conserved Domains (1) summary
    cl00184
    Location:145 → 443
    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 ...

  4. XM_039098401.2 → XP_038954329.1  trimethyllysine dioxygenase, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl00184
    Location:2 → 351
    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 ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91ZW6.2 GenPept UniProtKB/Swiss-Prot:Q91ZW6

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