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DHTKD1 Gene

protein-coding   GIFtS: 58
GCID: GC10P012110

Dehydrogenase E1 And Transketolase Domain Containing 1

  See DHTKD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dehydrogenase E1 And Transketolase Domain Containing 11 2     CMT2Q2 5
Dehydrogenase E1 And Transketolase Domain-Containing Protein 12 3     KIAA16303 5
EC 1.2.4.23 8     Probable 2-Oxoglutarate Dehydrogenase E1 Component DHKTD1, Mitochondrial2
AMOXAD2 5     

External Ids:    HGNC: 235371   Entrez Gene: 555262   Ensembl: ENSG000001811927   OMIM: 6149845   UniProtKB: Q96HY73   

Export aliases for DHTKD1 gene to outside databases

Previous GC identifers: GC10P012114 GC10P012150 GC10P012028


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DHTKD1 Gene:
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the
degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with
2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. (provided by RefSeq, May 2013)

GeneCards Summary for DHTKD1 Gene:
DHTKD1 (dehydrogenase E1 and transketolase domain containing 1) is a protein-coding gene. Diseases associated with DHTKD1 include 2-aminoadipic 2-oxoadipic aciduria, and charcot-marie-tooth disease, axonal, type 2q. GO annotations related to this gene include oxoglutarate dehydrogenase (succinyl-transferring) activity and thiamine pyrophosphate binding. An important paralog of this gene is OGDH.

UniProtKB/Swiss-Prot: DHTK1_HUMAN, Q96HY7
Function: The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to
succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase
(E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHTKD1 gene promoter:
         POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   AP-2gamma   POU3F2   PPAR-gamma1   FOXJ2 (long isoform)   FOXJ2   PPAR-gamma2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDHTKD1 promoter sequence
   Search Chromatin IP Primers for DHTKD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHTKD1


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

Entrez Gene cytogenetic band: 10p14   Ensembl cytogenetic band:  10p14   HGNC cytogenetic band: 10p14

DHTKD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHTKD1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P012110:  view genomic region     (about GC identifiers)

Start:
12,110,934 bp from pter      End:
12,165,224 bp from pter
Size:
54,291 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DHTK1_HUMAN, Q96HY7 (See protein sequence)
Recommended Name: Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial precursor  
Size: 919 amino acids; 103077 Da
Cofactor: Thiamine pyrophosphate (By similarity)
Sequence caution: Sequence=BAB13456.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB13456.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. C-terminal exons are derived from the
neighboring gene;
Secondary accessions: Q68CU5 Q9BUM8 Q9HCE2

Explore the universe of human proteins at neXtProt for DHTKD1: NX_Q96HY7

Explore proteomics data for DHTKD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DHTKD1 (Q96HY7) (see all 18)
     RLSGQDV  FHLLRRQ  LPHGYDG  VLGFEYG 


    See DHTKD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061176.3  
    ENSEMBL proteins: 
     ENSP00000263035   ENSP00000388163   ENSP00000400625   ENSP00000398482  

    DHTKD1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DHTKD1

     
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    antibodies-online proteins for DHTKD1 (2 products) 

     
    antibodies-online peptides for DHTKD1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011603 2oxoglutarate_DH_E1
     IPR005475 Transketolase-like_Pyr-bd
     IPR001017 DH_E1

    Graphical View of Domain Structure for InterPro Entry Q96HY7

    ProtoNet protein and cluster: Q96HY7

    UniProtKB/Swiss-Prot: DHTK1_HUMAN, Q96HY7
    Similarity: Belongs to the alpha-ketoglutarate dehydrogenase family


    Find genes that share domains with DHTKD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHTK1_HUMAN, Q96HY7
    Function: The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to
    succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase
    (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity)
    Catalytic activity: 2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine =
    [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)

         Enzyme Number (IUBMB): EC 1.2.4.21 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004591oxoglutarate dehydrogenase (succinyl-transferring) activity IEA--
    GO:0016624oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor ----
    GO:0030976thiamine pyrophosphate binding IEA--
         
    Find genes that share ontologies with DHTKD1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DHTKD1

    miRNA
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    miRTarBase miRNAs that target DHTKD1:
    hsa-mir-16-5p (MIRT051121), hsa-mir-1296-5p (MIRT036136), hsa-let-7b-5p (MIRT052332), hsa-mir-92a-3p (MIRT049034)

    Block miRNA regulation of human, mouse, rat DHTKD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHTKD1 (see all 27):
    hsa-miR-875-3p hsa-miR-15a hsa-miR-605 hsa-miR-29a hsa-miR-29c hsa-miR-218 hsa-miR-4267 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidDHTKD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHTKD1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DHTK1_HUMAN, Q96HY7: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    nucleus2
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--

    Find genes that share ontologies with DHTKD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DHTKD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway


    1 BioSystems Pathway for DHTKD1
        Integrated Breast Cancer Pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DHTKD1
    Interactions:

        Search GeneGlobe Interaction Network for DHTKD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for DHTKD1 (Q96HY73 ENSP000002630354) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETV6P412123I2D: score=4 
    WDR83OSQ9Y2843I2D: score=4 
    RPL12P300503I2D: score=1 
    DLDENSP000002054024STRING: ENSP00000205402
    DLSTENSP000003353044STRING: ENSP00000335304
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy IMP--
    GO:0006096glycolytic process IEA--
    GO:0006099tricarboxylic acid cycle IEA--
    GO:0008152metabolic process ----
    GO:0008219cell death IEA--

    Find genes that share ontologies with DHTKD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DHTKD1 (DHTK1)

    1 HMDB Compound for DHTKD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Thiamine pyrophosphateTPP (see all 11)154-87-0--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DHTKD1 gene: 
    NM_018706.6  

    Unigene Cluster for DHTKD1:

    Dehydrogenase E1 and transketolase domain containing 1
    Hs.104980  [show with all ESTs]
    Unigene Representative Sequence: NM_018706
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263035(uc001ild.4) ENST00000437298 ENST00000465617 ENST00000415935
    ENST00000448829 ENST00000479283
    miRNA
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    Block miRNA regulation of human, mouse, rat DHTKD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHTKD1 (see all 27):
    hsa-miR-875-3p hsa-miR-15a hsa-miR-605 hsa-miR-29a hsa-miR-29c hsa-miR-218 hsa-miR-4267 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidDHTKD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHTKD1
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      QuantiTect SYBR Green Assays in human, mouse, rat DHTKD1
      QuantiFast Probe-based Assays in human, mouse, rat DHTKD1

    Additional mRNA sequence: 

    AK309810.1 BC002477.2 BC007955.2 CR749726.1 

    11 DOTS entries:

    DT.442097  DT.91773619  DT.100754224  DT.100716560  DT.121284508  DT.100022567  DT.121284469  DT.121284573 
    DT.95138322  DT.422063  DT.91773611 

    Selected AceView cDNA sequences (see all 184):

    BM015412 BQ420710 BX355086 AA338652 BQ712435 BI868174 BU860216 AI720403 
    AI583726 BF970856 T77882 AW614404 AI580299 AI823832 AA120828 AI640173 
    CR749726 BX494393 BI859618 R72130 BE384748 CF994488 BI870429 BQ379447 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DHTKD1 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                          -           -     -     -     -                                                   
    SP5:                                -                                                                           


    ECgene alternative splicing isoforms for DHTKD1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DHTKD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATCAGTA
    DHTKD1 Expression
    About this image

    DHTKD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHTKD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.104980
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    In Situ
    Assay Products:
     

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

    Orthologs for DHTKD1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhtkd11 , 5 dehydrogenase E1 and transketolase domain containing more1, 5 84.12(n)1
    88.23(a)1
      2 (3.62 cM)5
    2096921  NM_001081131.21  NP_001074600.11 
     58961155 
    chicken
    (Gallus gallus)
    Aves DHTKD11 dehydrogenase E1 and transketolase domain containing more 74.12(n)
    80.98(a)
      426076  XM_004937486.1  XP_004937543.1 
    lizard
    (Anolis carolinensis)
    Reptilia DHTKD16
    dehydrogenase E1 and transketolase domain containi...
    78(a)
    1 ↔ 1
    GL343349.1(578851-612235)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.48432 Xenopus laevis transcribed sequence with moderate similarity more 77.99(n)    CA988349.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.133962 Transcribed sequence with weak similarity to protein more 76.51(n)    CK026273.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG15441 CG1544 54.33(n)
    49.83(a)
      43689  NM_143592.2  NP_651849.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK836.21 ZK836.2 53.94(n)
    51.41(a)
      179674  NM_001269481.1  NP_001256410.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KGD16
    Component of the mitochondrial alpha-ketoglutarate...
    32(a)
    1 → many
    IX(122689-125733) YIL125W


    ENSEMBL Gene Tree for DHTKD1 (if available)
    TreeFam Gene Tree for DHTKD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DHTKD1 gene
    OGDH2  OGDHL2  
    2 SIMAP similar genes for DHTKD1 using alignment to 4 protein entries:     DHTK1_HUMAN (see all proteins):
    OGDH    OGDHL

    Find genes that share paralogs with DHTKD1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DHTKD1 (see all 1508)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695854
    2-aminoadipic 2-oxoadipic aciduria (AMOXAD)4--see VAR_0695852 G R mis40--------
    rs106764731,2
    C--12049433(+) ccttc-/TTTCCTTCCTTCCTTCCTTT
    TTCCTTCCTTCCTTCC
    /TTTTTC
    cttcc
    2 -- cds1 trp31NA 2
    rs354305061,2
    C--12108958(+) TGTCT-/CAAA  
            
    CAAAC
    1 -- us2k11Minor allele frequency- CAAA:0.00NA 2
    rs1456618491,2
    --12109073(+) AACCCA/GGGAGA 1 -- us2k10--------
    rs1882263161,2
    --12109097(+) GAGCCA/GAGATT 1 -- us2k10--------
    rs17224511,2
    C,F,A--12109172(+) AAAAAA/GGAAAA 1 -- us2k1 trp33Minor allele frequency- G:0.33WA NA CSA 6
    rs1810479111,2
    --12109203(+) ACCAGA/GTCCAA 1 -- us2k10--------
    rs1854710571,2
    --12109238(+) AAGTGC/TGGACC 1 -- us2k10--------
    rs127801051,2
    C--12109556(+) ACTCTC/TTCTCC 1 -- us2k1 trp30--------
    rs1396626841,2
    C--12109559(+) CTCTC-/TCCTAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DHTKD1 (12110934 - 12165224 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for DHTKD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733084CNV Deletion23290073
    esv2673758CNV Deletion23128226
    dgv120e199CNV Deletion23128226
    nsv831785CNV Gain17160897
    nsv818745CNV Gain17921354
    dgv67n27CNV Gain19166990
    nsv470919CNV Gain18288195
    dgv37n21CNV Gain19592680

    Human Gene Mutation Database (HGMD): DHTKD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHTKD1
    DNA2.0 Custom Variant and Variant Library Synthesis for DHTKD1

    (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

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    OMIM gene information: 614984   
    OMIM disorders: 204750  615025  
    UniProtKB/Swiss-Prot: DHTK1_HUMAN, Q96HY7
  • Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a
    disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the
    peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased
    levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can
    have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most
    cases are asymptomatic. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for DHTKD1:    
    About MalaCards
    2-aminoadipic 2-oxoadipic aciduria    charcot-marie-tooth disease, axonal, type 2q    apperceptive agnosia    associative agnosia
    reye syndrome    charcot-marie-tooth disease type 2    charcot-marie-tooth disease

    1 disease from the University of Copenhagen DISEASES database for DHTKD1:
    Reye syndrome

    Find genes that share disorders with DHTKD1           About GenesLikeMe

    Genetic Association Database (GAD): DHTKD1
    Human Genome Epidemiology (HuGE) Navigator: DHTKD1 (3 documents)

    Export disorders for DHTKD1 gene to outside databases

    (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

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    PubMed articles for DHTKD1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with DHTKD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (PubMed id 23141293)1, 2 Danhauser K.... Koelker S. (Am. J. Hum. Genet. 2012)
    3. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (PubMed id 23141294)1, 2 Xu W.Y.... Wang Z.G. (Am. J. Hum. Genet. 2012)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    7. DHTKD1 is essential for mitochondrial biogenesis and function maintenance. (PubMed id 24076469)1 Xu W....Wang Z. (FEBS Lett. 2013)
    8. Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins. (PubMed id 18004749)1 Bunik V.I. and Degtyarev D. (Proteins 2008)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 55526 HGNC: 23537 AceView: DHTKD1 Ensembl:ENSG00000181192 euGenes: HUgn55526
    ECgene: DHTKD1 H-InvDB: DHTKD1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1630

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DHTKD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DHTKD1 gene:
    Search GeneIP for patents involving DHTKD1

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



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