Format

Send to:

Choose Destination

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

Gene ID: 55217, updated on 1-Jun-2020

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
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

Genomic context

See TMLHE in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (155489011..155612952, 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 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 sprouty RTK signaling antagonist 3 Neighboring gene meiotic recombination hotspot PAR2A Neighboring gene meiotic recombination hotspot PAR2

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10727

Gene Ontology Provided by GOA

Process Evidence Code Pubs
carnitine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

NCBI Reference Sequences (RefSeq)

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
    Q9NVH6
    Related
    ENSP00000335261.3, ENST00000334398.8
    Conserved Domains (1) summary
    TIGR02410
    Location:70419
    carnitine_TMLD; trimethyllysine dioxygenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011531182.3XP_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_017029620.2XP_016885109.1  trimethyllysine dioxygenase, mitochondrial isoform X2

RNA

  1. XR_247318.3 RNA Sequence

Support Center