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

DHTKD1 Gene

protein-coding   GIFtS: 53
GCID: GC10P012028

dehydrogenase E1 and transketolase domain containing 1

 Explore 9 diseases affiliated with
DHTKD1 via our new
 Human Malady Compendium 
Biological research products
for DHTKD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dehydrogenase E1 And Transketolase Domain Containing 11 2     MGC30901
KIAA16301 3     AMOXAD2
Dehydrogenase E1 And Transketolase Domain-Containing Protein 12 3     CMT2Q2
EC 1.2.4.23 8     Probable 2-Oxoglutarate Dehydrogenase E1 Component DHKTD1, Mitochondrial2
DKFZP762M1151     

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


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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DHTKD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC10P012028:  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, 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: 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)
Subcellular location: Mitochondrion (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96HY7

  • 4/18 DME Specific Peptides for DHTKD1 (Q96HY7) (see all 18)
     RLSGQDV  FHLLRRQ  LPHGYDG  VLGFEYG 

    DHTKD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for DHTKD1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    DHTKD1 for ontologies           About GeneDecksing



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

    DHTKD1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011603 2oxoglutarate_DH_E1
     IPR001017 DH_E1
     IPR005475 Transketolase-like_Pyr-bd

    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


    (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: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004591oxoglutarate dehydrogenase (succinyl-transferring) activity IEA--
    GO:0030976thiamine pyrophosphate binding IEA--


    DHTKD1 for ontologies           About GeneDecksing



    (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
    1Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway1.00


    1 BioSystems Pathway for DHTKD1 
        Integrated Breast Cancer Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DHTKD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/13 Interacting proteins for DHTKD1 (Q96HY73 ENSP000002630354) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETV6P412123I2D: score=4 
    WDR83OSQ9Y2843I2D: score=4 
    RPL12P300503I2D: score=1 
    IDH3AENSP000002995184STRING: ENSP00000299518
    IDH3BENSP000003702234STRING: ENSP00000370223
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006096glycolysis IEA--
    GO:0006099tricarboxylic acid cycle IEA--


    DHTKD1 for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for DHTKD1

    1 HMDB Compound for DHTKD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Thiamine pyrophosphateTPP (see all 11)154-87-0--
    Search CenterWatch for drugs/clinical trials and news about DHTKD1 / DHTK1 

    (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 DHTKD1 gene: 
    NM_018706.5  

    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

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    8/27 QIAGEN miScript miRNA 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
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    Additional cDNA 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 

    24/184 AceView cDNA sequences (see all 184):

    BF970856 AA338652 T77882 AW614404 AI580299 AI823832 AA120828 AI640173 
    AI720403 BQ420710 BX355086 BQ712435 BI868174 AI583726 BM015412 BU860216 
    BQ303333 AL553339 AL710895 BM044200 BM810358 BM810015 BC007955 BP358700 

    GeneLoc Exon Structure

    5/8 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™, 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

    DHTKD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAATCAGTA

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

    About this image
    See DHTKD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DHTKD1

    SOURCE GeneReport for Unigene cluster: Hs.104980
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    In Situ
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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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for DHTKD1 gene from 7/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DHTKD11 dehydrogenase E1 and transketolase domain containing more 73.91(n)
    80.79(a)
      426076  XM_423753.3  XP_423753.3 
    lizard
    (Anolis carolinensis)
    Reptilia DHTKD16
    --
    78(a)
    1 ↔ 1
    GL343349.1(581700-612235)
    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 53.89(n)
    48.99(a)
      43689  NM_143592.1  NP_651849.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK836.21 Protein ZK836.2 53.9(n)
    51.41(a)
      179674  NM_073659.4  NP_506060.2 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria sucA6
    2-oxoglutarate decarboxylase, thiamin-requiring
    36(a)
    1 → many
    Chromosome(757929-760730)


    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)
    About This Section
    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

    DHTKD1 for paralogs           About GeneDecksing



    (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

    10/1245 NCBI SNPs in DHTKD1 are shown (see all 1245    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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--------
    rs1996903171,2
    --12109171(+) AAAAA-/AGGAAAA 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--------
    rs794849051,2
    C,F,--12109944(+) GAACTC/TCTGAC 1 -- us2k12Minor allele frequency- T:0.03WA EA 238

    HapMap Linkage Disequilibrium report for DHTKD1 (12110934 - 12165224 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for DHTKD1
         6 CNVs: 48425 48424 9635 75113 53421 29583

    SABiosciences Cancer Mutation PCR Assays
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    (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

    DHTKD1 for disorders           About GeneDecksing

    OMIM gene information: 614984    OMIM disorders: --

    9 diseases for DHTKD1:    About MalaCards
    reye syndrome    intrahepatic cholangiocarcinoma    hepatic encephalopathy    microcephaly
    cholangiocarcinoma    alzheimer's disease    tuberculosis    hepatitis
    mycobacterium tuberculosis

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

    PubMed articles for DHTKD1 gene, integrated from 9 sources (see all 12):
    (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. (2000)
    2. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic a ciduria. (PubMed id 23141293)1 Danhauser K....Kolker S. (2012)
    3. A nonsense mutation in DHTKD1 causes Charcot-Marie-Too th disease type 2 in a large Chinese pedigree. (PubMed id 23141294)1 Xu W.Y....Wang Z.G. (2012)
    4. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1 Flachsbart F....Nebel A. (2010)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. 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. (2006)
    8. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55526 HGNC: 23537 AceView: DHTKD1 Ensembl:ENSG00000181192 euGenes: HUgn55526
    ECgene: DHTKD1 H-InvDB: DHTKD1

    (According to HUGE)
    About This Section
    HUGE: KIAA1630

    (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 DHTKD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DHTKD1 gene:
    Search GeneIP for patents involving DHTKD1

    GeneCards and IP:
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