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Aliases for TMLHE Gene

Aliases for TMLHE Gene

  • Trimethyllysine Hydroxylase, Epsilon 2 3 5
  • Epsilon-Trimethyllysine 2-Oxoglutarate Dioxygenase 3 4
  • Epsilon-Trimethyllysine Hydroxylase 3 4
  • TML-Alpha-Ketoglutarate Dioxygenase 3 4
  • TML Hydroxylase 3 4
  • EC 1.14.11.8 4 63
  • TMLD 3 4
  • TMLH 3 4
  • Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 2 3
  • 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 2 2
  • Butyrobetaine (Gamma) 2
  • TML Dioxygenase 4
  • AUTSX6 3
  • TMLHED 3
  • XAP130 3
  • BBOX2 3

External Ids for TMLHE Gene

Previous GeneCards Identifiers for TMLHE Gene

  • GC0XM148537
  • GC0XM150855
  • GC0XP152095
  • GC0XM153151
  • GC0XM154283
  • GC0XM154372
  • GC0XM154719
  • GC0XP143121

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 (Trimethyllysine Hydroxylase, Epsilon) 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 Viral mRNA Translation. GO annotations related to this gene include oxidoreductase activity and L-ascorbic acid binding. 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

Chromosome:
X
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

Genes around TMLHE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMLHE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

  • Ubiquitination at Lys 135
  • Modification sites at PhosphoSitePlus

Other Protein References for TMLHE Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for TMLHE Gene

Protein Domains for TMLHE Gene

Suggested Antigen Peptide Sequences for TMLHE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NVH6

UniProtKB/Swiss-Prot:

TMLH_HUMAN :
  • Belongs to the gamma-BBH/TMLD family.
Family:
  • Belongs to the gamma-BBH/TMLD family.
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

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

Human Phenotype Ontology for TMLHE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for TMLHE Gene

Pathways & Interactions for TMLHE Gene

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

Pathways by source 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: Q9NVH6-TMLH_HUMAN ENSP00000335261 for TMLHE Gene via I2D STRING

Gene Ontology (GO) - Biological Process for TMLHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0051354 negative regulation of oxidoreductase activity IDA 15754339
genes like me logo Genes that share ontologies with TMLHE: view

No data available for SIGNOR curated interactions for TMLHE Gene

Drugs & Compounds for TMLHE Gene

(7) Drugs for TMLHE Gene - From: HMDB, ApexBio, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Vitamin C Approved Nutra Target 424,424
spermine Approved Nutra Full agonist, Agonist 0
2-Ketobutyric acid Experimental Pharma 0
putrescine Experimental Pharma Antagonist, Pore Blocker 0

(8) Additional Compounds for TMLHE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Hydroxy-N6,N6,N6-trimethyl-L-lysine
  • 3-Hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine
  • 3-Hydroxy-N(6),N(6),N(6)-trimethyllysine
  • 3-Hydroxy-N6,N6,N6-trimethyl-L-lysin-N6-ium
  • 3-Hydroxy-N6,N6,N6-trimethyl-L-lysine
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
N1-acetylspermine
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
25593-72-0
N6,N6,N6-Trimethyl-L-lysine
  • (S)-2-amino-6-(trimethylammonio)hexanoate
  • (S)-2-amino-6-(trimethylammonio)hexanoic acid
  • delta-Trimethyllysine
  • epsilon-N-Trimethyl-L-lysine
  • epsilon-Trimethyl-L-lysine
19253-88-4
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

Protein differential expression in normal tissues from HIPED for TMLHE Gene

This gene is overexpressed in Bone (13.3), Stomach (7.1), and Salivary gland (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TMLHE: view

Protein tissue co-expression partners for TMLHE Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TMLHE Gene

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 (a)
OneToOne
TMLHE 35
  • 99.53 (n)
  • 99.53 (a)
cow
(Bos Taurus)
Mammalia TMLHE 36
  • 95 (a)
OneToOne
TMLHE 35
  • 92.72 (n)
  • 91.69 (a)
dog
(Canis familiaris)
Mammalia TMLHE 35
  • 93.35 (n)
  • 94.06 (a)
TMLHE 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmlhe 36
  • 88 (a)
OneToOne
Tmlhe 16
Tmlhe 35
  • 87.41 (n)
  • 88.12 (a)
oppossum
(Monodelphis domestica)
Mammalia TMLHE 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMLHE 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmlhe 35
  • 85.11 (n)
  • 86.46 (a)
chicken
(Gallus gallus)
Aves TMLHE 36
  • 82 (a)
OneToOne
TMLHE 35
  • 74.88 (n)
  • 82.06 (a)
lizard
(Anolis carolinensis)
Reptilia TMLHE 36
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68497 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tmlhe 35
  • 66.75 (n)
  • 70.24 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9575 35
zebrafish
(Danio rerio)
Actinopterygii tmlhe 35
  • 66.41 (n)
  • 71.87 (a)
tmlhe 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005447 35
  • 48.1 (n)
  • 38.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4335 36
  • 34 (a)
OneToOne
CG4335 37
  • 35 (a)
CG4335 35
  • 46.75 (n)
  • 36.98 (a)
worm
(Caenorhabditis elegans)
Secernentea gbh-2 37
  • 34 (a)
gbh-2 36
  • 30 (a)
OneToOne
gbh-2 35
  • 47.71 (n)
  • 37.14 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL035W 35
  • 45.05 (n)
  • 35.99 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM17 36
  • 17 (a)
OneToMany
AIM17 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10945g 35
  • 46.63 (n)
  • 34.55 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03802 35
  • 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

(1) 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
rs380439 -- 155,499,233(+) GGGAA(A/G)GTTAG intron-variant
rs546070 -- 155,494,878(+) CTCCT(C/T)TTACA intron-variant
rs782310 -- 155,589,707(-) ttgga(A/G)cttat intron-variant
rs782311 -- 155,589,342(-) ctccc(A/G)agagt intron-variant
rs1055621 -- 155,524,603(-) TGCGC(C/T)TTGAT nc-transcript-variant, reference, missense

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

Variation tolerance for TMLHE Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMLHE Gene

HapMap Linkage Disequilibrium report
TMLHE
Human Gene Mutation Database (HGMD)
TMLHE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMLHE Gene

Disorders for TMLHE Gene

MalaCards: The human disease database

(6) MalaCards diseases for TMLHE Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epsilon-trimethyllysine hydroxylase deficiency
  • autsx6
pervasive developmental disorder
  • pervasive development disorder
incontinentia pigmenti
  • bloch-sulzberger syndrome
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
mental retardation, autosomal recessive 48
  • mrt48
- elite association - COSMIC cancer census association via MalaCards
Search TMLHE in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TMLHE

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMLHE
genes like me logo Genes that share disorders with TMLHE: view

No data available for Genatlas for TMLHE Gene

Publications for TMLHE Gene

  1. 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 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. 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 23
  5. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. (PMID: 8908511) Rogner U.C. … Poustka A. (Genome Res. 1996) 2 3

Products for TMLHE Gene

Sources for TMLHE Gene

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