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Aliases for TMLHE Gene

Aliases for TMLHE Gene

  • TMLH 3 4 6
  • Epsilon-Trimethyllysine 2-Oxoglutarate Dioxygenase 3 4
  • Trimethyllysine Hydroxylase, Epsilon 2 3
  • Epsilon-Trimethyllysine Hydroxylase 3 4
  • TML-Alpha-Ketoglutarate Dioxygenase 3 4
  • TML Hydroxylase 3 4
  • EC 1.14.11.8 4 64
  • AUTSX6 3 6
  • TMLHED 3 6
  • BBOX2 3 6
  • TMLD 3 4
  • Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 2 3
  • 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 2 2
  • Trimethyllysine Dioxygenase, Mitochondrial 3
  • Butyrobetaine (Gamma) 2
  • TML Dioxygenase 4
  • XAP130 3

External Ids for TMLHE Gene

Summaries for TMLHE Gene

Entrez Gene Summary for TMLHE Gene

  • 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]

GeneCards Summary for TMLHE Gene

TMLHE is a Protein Coding gene. Diseases associated with TMLHE include epsilon-trimethyllysine hydroxylase deficiency and pervasive developmental disorder. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. An important paralog of this gene is BBOX1.

UniProtKB/Swiss-Prot for TMLHE Gene

  • Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)

Gene Wiki entry for TMLHE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMLHE Gene

Genomics for TMLHE Gene

Genomic Location for TMLHE Gene

Start:
155,489,011 bp from pter
End:
155,669,944 bp from pter
Size:
180,934 bases
Orientation:
Minus strand

Genomic View for TMLHE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMLHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMLHE Gene

No data available for Regulatory Elements for TMLHE Gene

Proteins for TMLHE Gene

  • Protein details for TMLHE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVH6-TMLH_HUMAN
    Recommended name:
    Trimethyllysine dioxygenase, mitochondrial
    Protein Accession:
    Q9NVH6
    Secondary Accessions:
    • A8K6M9
    • B4E3R3
    • Q5TZB5
    • Q6IA90
    • Q8TBT0

    Protein attributes for TMLHE Gene

    Size:
    421 amino acids
    Molecular mass:
    49518 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 Fe(2+) ion per subunit.;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for TMLHE Gene

neXtProt entry for TMLHE Gene

Proteomics data for TMLHE Gene at MOPED

Post-translational modifications for TMLHE Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys135

Other Protein References for TMLHE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for TMLHE Gene

Protein Domains for TMLHE Gene

UniProtKB/Swiss-Prot:

TMLH_HUMAN
Family:
  • Belongs to the gamma-BBH/TMLD family.:
    • Q9NVH6
genes like me logo Genes that share domains with TMLHE: view

No data available for Gene Families for TMLHE Gene

Function for TMLHE Gene

Molecular function for TMLHE Gene

UniProtKB/Swiss-Prot CatalyticActivity: N(6),N(6),N(6)-trimethyl-L-lysine + 2-oxoglutarate + O(2) = 3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine + succinate + CO(2)
UniProtKB/Swiss-Prot Function: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)

Enzyme Numbers (IUBMB) for TMLHE Gene

Gene Ontology (GO) - Molecular Function for TMLHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
GO:0031418 L-ascorbic acid binding IEA --
GO:0050353 trimethyllysine dioxygenase activity TAS --
genes like me logo Genes that share ontologies with TMLHE: view
genes like me logo Genes that share phenotypes with TMLHE: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMLHE Gene

Localization for TMLHE Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMLHE Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMLHE Gene COMPARTMENTS Subcellular localization image for TMLHE gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMLHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with TMLHE: view

Pathways for TMLHE Gene

genes like me logo Genes that share pathways with TMLHE: view

Pathways by source for TMLHE Gene

1 BioSystems pathway for TMLHE Gene
1 KEGG pathway for TMLHE Gene

UniProtKB/Swiss-Prot Q9NVH6-TMLH_HUMAN

  • Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis

Interacting Proteins for TMLHE Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000335261%0d%0a9606.ENSP00000272645%0d%0a9606.ENSP00000285896%0d%0a9606.ENSP00000355279%0d%0a
Selected Interacting proteins: ENSP00000335261 Q9NVH6-TMLH_HUMAN for TMLHE Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TMLHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0045329 carnitine biosynthetic process TAS --
GO:0051354 negative regulation of oxidoreductase activity IDA 15754339
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with TMLHE: view

Compounds for TMLHE Gene

(14) HMDB Compounds for TMLHE Gene

Compound Synonyms Cas Number PubMed IDs
2-Ketobutyric acid
  • 2-Ketobutanoate
600-18-0
3-Hydroxy-N6,N6,N6-trimethyl-L-lysine
  • 3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine
Not Available
Ascorbic acid
  • (+)-ascorbate
50-81-7
Carbon dioxide
  • Carbon oxide
124-38-9
Iron
  • Armco iron
7439-89-6

(2) Drugbank Compounds for TMLHE Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 target
Vitamin C
  • Ascorbate
50-81-7 target
genes like me logo Genes that share compounds with TMLHE: view

Transcripts for TMLHE Gene

Unigene Clusters for TMLHE Gene

Trimethyllysine hydroxylase, epsilon:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMLHE Gene

No ASD Table

Relevant External Links for TMLHE Gene

GeneLoc Exon Structure for
TMLHE
ECgene alternative splicing isoforms for
TMLHE

Expression for TMLHE Gene

mRNA expression in normal human tissues for TMLHE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMLHE Gene

SOURCE GeneReport for Unigene cluster for TMLHE Gene Hs.133321

mRNA Expression by UniProt/SwissProt for TMLHE Gene

Q9NVH6-TMLH_HUMAN
Tissue specificity: All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.
genes like me logo Genes that share expressions with TMLHE: view

Orthologs for TMLHE Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMLHE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMLHE 36
  • 99.53 (n)
  • 99.53 (a)
TMLHE 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMLHE 36
  • 92.72 (n)
  • 91.69 (a)
TMLHE 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMLHE 36
  • 93.35 (n)
  • 94.06 (a)
TMLHE 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmlhe 36
  • 87.41 (n)
  • 88.12 (a)
Tmlhe 16
Tmlhe 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMLHE 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMLHE 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmlhe 36
  • 85.11 (n)
  • 86.46 (a)
chicken
(Gallus gallus)
Aves TMLHE 36
  • 74.88 (n)
  • 82.06 (a)
TMLHE 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMLHE 37
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68497 36
tropical clawed frog
(Silurana tropicalis)
Amphibia tmlhe 36
  • 66.75 (n)
  • 70.24 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9575 36
zebrafish
(Danio rerio)
Actinopterygii tmlhe 36
  • 66.41 (n)
  • 71.87 (a)
tmlhe 37
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005447 36
  • 48.1 (n)
  • 38.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4335 36
  • 46.75 (n)
  • 36.98 (a)
CG4335 37
  • 34 (a)
OneToOne
CG4335 38
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea gbh-2 36
  • 47.71 (n)
  • 37.14 (a)
gbh-2 37
  • 30 (a)
OneToOne
gbh-2 38
  • 34 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL035W 36
  • 45.05 (n)
  • 35.99 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM17 37
  • 17 (a)
OneToMany
AIM17 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10945g 36
  • 46.63 (n)
  • 34.55 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03802 36
  • 47.09 (n)
  • 39.45 (a)
Species with no ortholog for TMLHE:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMLHE Gene

ENSEMBL:
Gene Tree for TMLHE (if available)
TreeFam:
Gene Tree for TMLHE (if available)

Paralogs for TMLHE Gene

Paralogs for TMLHE Gene

Selected SIMAP similar genes for TMLHE Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TMLHE Gene

genes like me logo Genes that share paralogs with TMLHE: view

Variants for TMLHE Gene

Sequence variations from dbSNP and Humsavar for TMLHE Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs380439 -- 155,499,233(+) GGGAA(A/G)GTTAG intron-variant
rs473579 -- 155,607,367(+) tgctg(A/C/G/T)aattt intron-variant
rs518178 -- 155,603,373(-) ctttc(A/T)ttcat intron-variant
rs522805 -- 155,609,426(-) aatag(A/G)tagtt intron-variant
rs618070 -- 155,605,136(+) aaagt(G/T)gaaac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMLHE Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV Gain+Loss 17666407
esv29972 CNV Gain 17803354
nsv7470 OTHER Inversion 18451855
nsv499361 OTHER Inversion 21111241
nsv818043 CNV Gain 17921354
nsv519485 CNV Loss 19592680
esv2670601 CNV Deletion 23128226
nsv438162 CNV Loss 16468122
nsv520699 CNV Gain 19592680
nsv7162 CNV Loss 18451855
esv2660855 CNV Deletion 23128226
esv24743 CNV Loss 19812545
nsv511652 CNV Loss 21212237
esv2665236 CNV Deletion 23128226
esv2669858 CNV Deletion 23128226
nsv510869 CNV Loss 20534489
esv24821 CNV Gain+Loss 19812545
esv1007887 CNV Deletion 20482838
nsv820472 CNV Deletion 20802225
nsv829418 CNV Loss 20364138
nsv512705 CNV Loss 21212237
esv274593 CNV Insertion 20981092
esv2671097 CNV Deletion 23128226
esv992364 CNV Loss 20482838
nsv499386 CNV Loss 21111241
esv2659146 CNV Deletion 23128226
nsv829420 CNV Loss 20364138
nsv515187 CNV Loss 21397061
esv2675898 CNV Deletion 23128226
nsv7163 CNV Insertion 18451855

Relevant External Links for TMLHE Gene

HapMap Linkage Disequilibrium report
TMLHE
Human Gene Mutation Database (HGMD)
TMLHE
Locus Specific Mutation Databases (LSDB)
TMLHE

Disorders for TMLHE Gene

(1) OMIM Diseases for TMLHE Gene (300777)

UniProtKB/Swiss-Prot

TMLH_HUMAN
  • Epsilon-trimethyllysine hydroxylase deficiency (TMLHED) [MIM:300872]: An inborn error of carnitine biosynthesis associated with an increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269 PubMed:21865298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with TMLHE: view

Publications for TMLHE Gene

  1. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. (PMID: 15754339) Monfregola J. … Ursini M.V. (J. Cell. Physiol. 2005) 3 4 23
  2. Molecular and biochemical characterization of rat epsilon-N- trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis. (PMID: 11431483) Vaz F.M. … Wanders R.J.A. (J. Biol. Chem. 2001) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. (PMID: 17408883) Monfregola J. … Ursini M.V. (Gene 2007) 3 4

Products for TMLHE Gene

Sources for TMLHE Gene

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