Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMLHE Gene

protein-coding   GIFtS: 59
GCID: GC0XM154719

trimethyllysine hydroxylase, epsilon
  Search for TMLHE
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TMLHE    

Aliases
for TMLHE gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Trimethyllysine Hydroxylase, Epsilon1 2     TML-Alpha-Ketoglutarate Dioxygenase2 3
TMLH1 2 3 5     EC 1.14.11.83 8
BBOX21 2 5     FLJ107271
XAP1301 2     AUTSX62
Epsilon-Trimethyllysine 2-Oxoglutarate Dioxygenase2 3     TMLHED2
Epsilon-Trimethyllysine Hydroxylase2 3     Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine
Hydroxylase) 22
TMLD2 3     Trimethyllysine Dioxygenase, Mitochondrial2
TML Hydroxylase2 3     TML Dioxygenase3

External Ids:    HGNC: 183081   Entrez Gene: 552172   Ensembl: ENSG000001859737   OMIM: 3007775   UniProtKB: Q9NVH63   

Export aliases for TMLHE gene to outside databases

Previous GC identifers: GC0XM148537 GC0XM150855 GC0XP152095 GC0XM153151 GC0XM154283 GC0XM154372 GC0XP143121


Summaries
for TMLHE gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TMLHE:
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)

UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
Function: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)

Gene Wiki entry for TMLHE


Genomic Views
for TMLHE gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMLHE
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMLHE promoter sequence
   Search SABiosciences Chromatin IP Primers for TMLHE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMLHE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM154719:  view genomic region     (about GC identifiers)

Start:
 154,718,672 bp from pter      End:
 154,899,605 bp from pter
Size:
 180,934 bases      Orientation:
 minus strand

Proteins
for TMLHE gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6 (See protein sequence)
Recommended Name: Trimethyllysine dioxygenase, mitochondrial precursor  
Size: 421 amino acids; 49518 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)
Cofactor: Ascorbate
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion matrix
Secondary accessions: A8K6M9 B4E3R3 Q5TZB5 Q6IA90 Q8TBT0
Alternative promoter usage, Alternative splicing: 8 isoforms:  Q9NVH6-1   Q9NVH6-3   Q9NVH6-4   Q9NVH6-2   Q9NVH6-5   Q9NVH6-6   Q9NVH6-7   Q9NVH6-8   
(Produced by alternative promoter usage. Although the expression of the alternative 5' exon has been detected by PCR in heart and skeletal muscle, the identification of the alternative promoter leading to this form remains elusive (PubMed:17408883))

Explore the universe of human proteins at neXtProt for TMLHE: NX_Q9NVH6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NVH6

    • 4/7 DME Specific Peptides for TMLHE (Q9NVH6) (see all 7)
     CHNHMIG  HTDTTYF  QRSLDTASVDL  LFIDNWRVLHGRE 

    TMLHE Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171726.1  NP_060666.1  

    ENSEMBL proteins: 
     ENSP00000335261   ENSP00000358447  
    Reactome Protein details: Q9NVH6
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: TMLHE
    OriGene Custom Protein Services for TMLHE 
    GenScript Custom Purified and Recombinant Proteins Services for TMLHE
    Novus Biologicals TMLHE Proteins
    Novus Biologicals TMLHE Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA15754339
    GO:0005759mitochondrial matrix TAS--


    TMLHE for ontologies           About GeneDecksing



    TMLHE Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: TMLHE
    OriGene Custom Antibody Services for TMLHE 
    GenScript Custom Superior Antibodies Services for TMLHE
    Novus Biologicals TMLHE Antibodies
    Search for Antibodies for TMLHE at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for TMLHE

    Assay Products for TMLHE: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TMLHE
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for TMLHE gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TMLHE for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR010376 DUF971
     IPR003819 Taurine_dOase
     IPR012776 Trimethyllysine_dOase

    Graphical View of Domain Structure for InterPro Entry Q9NVH6

    ProtoNet protein and cluster: Q9NVH6

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
    Similarity: Belongs to the gamma-BBH/TMLD family


    Function
    for TMLHE gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
    Function: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)
    Catalytic activity: 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)

    Enzyme Number (IUBMB): EC 1.14.11.81 2

    miRNA
    Products:            		 OriGene 3'-UTR Clone: TMLHE
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMLHE
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TMLHE (see all 10):
    hsa-miR-3163 hsa-miR-3164 hsa-miR-526b hsa-miR-650 hsa-miR-520a-5p hsa-miR-525-5p hsa-miR-544 hsa-miR-617
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMLHE (see all 7)
    OriGene shRNA RFP: TMLHE
    OriGene siRNA: TMLHE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMLHE

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TMLHE

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMLHE (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMLHE (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TMLHE (NM_018196)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMLHE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMLHE 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TMLHE
    Search LifeMap BioReagents cell lines for TMLHE

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMLHE

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--
    GO:0031418L-ascorbic acid binding IEA--
    GO:0050353trimethyllysine dioxygenase activity TAS--


    TMLHE for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for TMLHE:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for TMLHE gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1L-carnitine biosynthesis
    		L-carnitine biosynthesis1.00
    		Carnitine synthesis0.75
    2Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    3Lysine degradation
    		Lysine degradation1.00
    4Metabolism
    		Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for TMLHE 
        L-carnitine biosynthesis

    3        Reactome Pathways for TMLHE
        Carnitine synthesis
    Metabolism
    Metabolism of amino acids and derivatives


    1         Kegg Pathway  (Kegg details for TMLHE):
        Lysine degradation

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
    Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis


    TMLHE for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMLHE

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/11 Interacting proteins for TMLHE (Q9NVH63 ENSP000003352614) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED10Q9BTT43, ENSP000002557644I2D: score=1 STRING: ENSP00000255764
    RBL2Q089993, ENSP000002621334I2D: score=1 STRING: ENSP00000262133
    MED29Q9NX703, ENSP000003143434I2D: score=1 STRING: ENSP00000314343
    MED9Q9NWA03, ENSP000002687114I2D: score=1 STRING: ENSP00000268711
    CAPZA1P529073I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0045329carnitine biosynthetic process TAS--
    GO:0051354negative regulation of oxidoreductase activity IDA15754339


    TMLHE for ontologies           About GeneDecksing



    Drugs & Compounds
    for TMLHE gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMLHE

    10/14 HMDB Compounds for TMLHE (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    3-Hydroxy-N6,N6,N6-trimethyl-L-lysine3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine (see all 4)----
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    IronArmco iron (see all 19)7439-89-6--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    N6,N6,N6-Trimethyl-L-lysine(S)-2-amino-6-(trimethylammonio)hexanoate (see all 9)19253-88-4--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    OxygenOxygen (see all 5)7782-44-7--

    2 DrugBank Compounds for TMLHE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about TMLHE / TMLH 

    Transcripts
    for TMLHE gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TMLHE gene (2 alternative transcripts): 
    NM_001184797.1  NM_018196.3  

    Unigene Cluster for TMLHE:

    Trimethyllysine hydroxylase, epsilon
    Hs.133321  [show with all ESTs]
    Unigene Representative Sequence: NM_018196
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334398(uc004fnn.3) ENST00000449645 ENST00000369439(uc004fnp.4)
    ENST00000487422 ENST00000474677 ENST00000461075

    miRNA
    Products:             		 OriGene 3'-UTR Clone: TMLHE
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMLHE
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TMLHE (see all 10):
    hsa-miR-3163 hsa-miR-3164 hsa-miR-526b hsa-miR-650 hsa-miR-520a-5p hsa-miR-525-5p hsa-miR-544 hsa-miR-617
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMLHE (see all 7)
    OriGene shRNA RFP: TMLHE
    OriGene siRNA: TMLHE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMLHE
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMLHE (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMLHE (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TMLHE (NM_018196)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMLHE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMLHE 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMLHE
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMLHE
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMLHE
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMLHE

    Additional cDNA sequence: 

    AF373407.1 AK001589.1 AK291694.1 AK304830.1 AK310667.1 BC009673.1 BC025269.1 CR457265.1 

    11 DOTS entries:

    DT.455117  DT.100013416  DT.97841460  DT.86856133  DT.92425984  DT.92425992  DT.441498  DT.92425991 
    DT.100690946  DT.100712650  DT.438218 

    24/131 AceView cDNA sequences (see all 131):

    CR610946 BG943881 BM710266 AK001589 BX103123 BU675743 BC009673 AA011424 
    CA395696 BC025269 CR457265 BG390934 AU130661 NM_018196 BX111000 N67550 
    CR610079 AA937049 BM836920 AI803989 AF373407 BQ049159 AA151697 CR595358 

    GeneLoc Exon Structure


    Expression
    for TMLHE gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMLHE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TMLHE expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungLung BudLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TMLHE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMLHE

    SOURCE GeneReport for Unigene cluster: Hs.133321

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
    Tissue specificity: All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is
    restricted to heart and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including TMLHE: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMLHE
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMLHE
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMLHE
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMLHE
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMLHE

    Orthologs
    for TMLHE gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TMLHE gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tmlhe1 , 5 trimethyllysine hydroxylase, epsilon1, 5 87.41(n)1
    88.12(a)1    		   X5
    1922891  NM_138758.11  NP_620097.11 
    chicken
    (Gallus gallus)    		 Aves TMLHE1 trimethyllysine hydroxylase, epsilon 74.88(n)
    82.06(a)    		   422296  NM_001012575.1  NP_001012593.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TMLHE6
    		 --
    		 87(a)
    		 1 ↔ 1
    		 GL343202.1(2074050-2081528)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC684972 hypothetical protein MGC68497 75.01(n)    BC063722.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5552711 trimethyllysine dioxygenase, mitochondrial-like 67.37(n)
    73.23(a)    		   555271  XM_677739.2  XP_682831.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG43351 , 3 gamma-butyrobetaine,2-oxoglutarate
    dioxygenase3
    CG43351    		 35(a)3
    46.76(n)1
    36.47(a)1    		   92E73
    424211  NM_142629.31  NP_650886.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea gbh-21 , 3 gamma-butyrobetaine,2-oxoglutarate
    dioxygenase3
    Protein GBH-21    		 34(a)3
    47.11(n)1
    36.99(a)1    		   II(8485610-8487168)3
    1743581  NM_063392.21  NP_495793.21 
    A. gossypii yeast
    (Ashbya gossypii)    		 Saccharomycetes AGOS_AEL035W1 AEL035Wp 44.23(n)
    35.18(a)    		   4621022  NM_210180.1  NP_984826.1 


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

    Paralogs
    for TMLHE gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMLHE gene
    BBOX12  
    1 SIMAP similar gene for TMLHE using alignment to 1 protein entry:     TMLH_HUMAN:
    BBOX1

    TMLHE for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TMLHE
    PGOHUM00000242100 PGOHUM00000242101


    Genomic Variants
    for TMLHE gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1221 NCBI SNPs in TMLHE are shown (see all 1221)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2018420521,2
    		--154719714(+) CCCCC-/TACCCG 2 -- int1 ut310--------
    rs1823668091,2
    		--154720006(+) GGGGGA/GAGGTG 2 -- ut31 int10--------
    rs1883091891,2
    		--154720953(+) TAAATA/CAAACA 2 -- int1 ut310--------
    rs1910539591,2
    		--154720998(+) GCCCCA/GCTAGA 2 -- int1 ut310--------
    rs1509262261,2
    		C,--154721357(+) AAAAAC/GAGAGA 2 -- int10--------
    rs1837678581,2
    		--154723733(+) CTCCTA/GTTTGA 3 -- int1 nc-transcript-variant0--------
    rs1876200091,2
    		--154728894(+) GGGAAA/GGTTAG 2 -- int10--------
    rs2005294091,2
    		--154732055(+) ACGCG-/CACACAC 2 -- int10--------
    rs1921105581,2
    		--154734601(+) ATAAGG/TGTTTG 2 -- int10--------
    rs1382138731,2
    		--154734642(+) TCAGTA/GAGTGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for TMLHE (154718672 - 154899605 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 18 variations for TMLHE
         15/16 CNVs (see all 16): 52967 97129 37018 97128 97130 68064 83879 23331 37016 37015 37017 9357 68063 97127 1870
         2 Inversions: 37368 37367
    Human Gene Mutation Database (HGMD): TMLHE

    Locus Specific Mutation Databases (LSDB): TMLHE

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMLHE
    DNA2.0 Custom Variant and Variant Library Synthesis for TMLHE

    Disorders / Diseases
    for TMLHE gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TMLHE for disorders           About MalaCards

    TMLHE for disorders           About GeneDecksing

    OMIM gene information: 300777    OMIM disorders: --

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
  • Defects in TMLHE are the cause of 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

    1 disease from the University of Copenhagen DISEASES database for TMLHE:
    Autistic disorder

    Export disorders for TMLHE gene to outside databases

    Publications
    for TMLHE gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMLHE gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with TMLHE)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular and biochemical characterization of rat epsilon-N- trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis. (PubMed id 11431483)1, 2, 3 Vaz F.M.... Wanders R.J.A. (2001)
    2. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. (PubMed id 15754339)1, 2, 9 Monfregola J.... Ursini M.V. (2005)
    3. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. (PubMed id 21865298)1, 2 Celestino-Soper P.B....Beaudet A.L. (2011)
    4. Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. (PubMed id 17408883)1, 2 Monfregola J....Ursini M.V. (2007)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. (PubMed id 8908511)1, 3 Rogner U.C....Poustka A. (1996)
    9. A common X-linked inborn error of carnitine biosynthes is may be a risk factor for nondysmorphic autism. (PubMed id 22566635)1 Celestino-Soper P.B....Beaudet A.L. (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for TMLHE gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TMLHE gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55217 HGNC: 18308 AceView: TMLHE Ensembl:ENSG00000185973 euGenes: HUgn55217
    ECgene: TMLHE Kegg: 55217 H-InvDB: TMLHE

    Other Databases showing TMLHE gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TMLHE gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMLHE Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TMLHE gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TMLHE gene:
    Search GeneIP for patents involving TMLHE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for TMLHE gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for TMLHE   OriGene shRNA RFP for TMLHE  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMLHE   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMLHE  
     OriGene Protein Over-expression Lysate for TMLHE   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for TMLHE   OriGene 3'-UTR Clone for TMLHE  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMLHE   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMLHE  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TMLHE   OriGene Custom Protein Services for TMLHE  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMLHE
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMLHE
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMLHE
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMLHE
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMLHE
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMLHE
     GenScript Custom Purified and Recombinant Proteins Services for TMLHE GenScript cDNA clones with any tag delivered in your preferred vector for TMLHE
     GenScript Custom Assay Services for TMLHE GenScript Custom Superior Antibodies Services for TMLHE
     GenScript Custom overexpressing Cell Line Services for TMLHE CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Search Regulatory tfbs for TMLHE
     Search Chromatin IP Primers for TMLHE
     RT2 qPCR Primer Assay in human, mouse, rat TMLHE
     Search GNC Networks for TMLHE
     SABiosciences PCR Arrays including human, mouse, rat TMLHE
     Search Tocris compounds for TMLHE
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TMLHE antibodies
     TMLHE proteins
     TMLHE lysates
     Search for Antibodies for TMLHE at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for TMLHE
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for TMLHE
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMLHE
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TMLHE
     SwitchGear Promoter luciferase reporter plasmids for TMLHE
     ThermoFisher Antibodies for TMLHE
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMLHE
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      TMLHE gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4