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    Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 361272, updated on 9-Dec-2024

    Summary

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    Symbol
    Dhtkd1provided by RGD
    Full Name
    dehydrogenase E1 and transketolase domain containing 1provided by RGD
    Primary source
    RGD:1308092
    See related
    EnsemblRapid:ENSRNOG00000023587 AllianceGenome:RGD:1308092
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    E1a; OADC-E1; OADH-E1
    Summary
    Predicted to enable 2-oxoadipate dehydrogenase activity. Predicted to be involved in generation of precursor metabolites and energy. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in mitochondrion. Predicted to be part of oxoadipate dehydrogenase complex. Human ortholog(s) of this gene implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Orthologous to human DHTKD1 (dehydrogenase E1 and transketolase domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Liver (RPKM 459.8), Kidney (RPKM 385.3) and 4 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dhtkd1 in Genome Data Viewer
    Location:
    17q12.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 17 NC_086035.1 (77242512..77316074)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 17 NC_051352.1 (72355201..72406725)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 17 NC_005116.4 (76306585..76358058)

    Chromosome 17 - NC_086035.1Genomic Context describing neighboring genes Neighboring gene enoyl CoA hydratase domain containing 3 Neighboring gene proline and serine rich 2 Neighboring gene UPF2, regulator of nonsense mediated mRNA decay Neighboring gene cytochrome c oxidase subunit VIb polypeptide 1-like Neighboring gene large ribosomal subunit protein eL37-like Neighboring gene SEC61 translocon subunit alpha 2 Neighboring gene nudix hydrolase 5 Neighboring gene cell division cycle 123

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Thiamine Induces Long-Term Changes in Amino Acid Profiles and Activities of 2-Oxoglutarate and 2-Oxoadipate Dehydrogenases in Rat Brain. Tsepkova PM, et al. Biochemistry (Mosc), 2017 Jun. PMID 28601082
    2. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Xu WY, et al. Am J Hum Genet, 2012 Dec 7. PMID 23141294, Free PMC Article
    3. Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues. Artiukhov AV, et al. Sci Rep, 2020 Feb 5. PMID 32024885, Free PMC Article
    4. Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Nagamachi A, et al. Cancer Cell, 2013 Sep 9. PMID 24029230
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues.
      Title: Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues.
    2. Thiamine Induces Long-Term Changes in Amino Acid Profiles and Activities of 2-Oxoglutarate and 2-Oxoadipate Dehydrogenases in Rat Brain
      Title: Thiamine Induces Long-Term Changes in Amino Acid Profiles and Activities of 2-Oxoglutarate and 2-Oxoadipate Dehydrogenases in Rat Brain.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC116097

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 2-oxoadipate dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 2-oxoadipate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxoglutarate dehydrogenase (succinyl-transferring) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables thiamine pyrophosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in generation of precursor metabolites and energy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in generation of precursor metabolites and energy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in generation of precursor metabolites and energy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within hematopoietic progenitor cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of oxoadipate dehydrogenase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of oxoadipate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    2-oxoadipate dehydrogenase complex component E1
    Names
    2-oxoadipate dehydrogenase, mitochondrial
    alpha-KADH-E1
    alpha-ketoadipate dehydrogenase
    dehydrogenase E1 and transketolase domain-containing protein 1
    probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
    probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial-like
    NP_001020891.1
    XP_063132705.1
    XP_063132706.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001025720.1 → NP_001020891.1  2-oxoadipate dehydrogenase complex component E1

      See identical proteins and their annotated locations for NP_001020891.1

      Status: PROVISIONAL

      Source sequence(s)
      BC099075
      UniProtKB/Swiss-Prot
      Q4KLP0
      UniProtKB/TrEMBL
      A0A8L2UN65
      Related
      ENSRNOP00000059952.5, ENSRNOT00000065978.6
      Conserved Domains (4) summary
      PRK09404
      Location:58 → 914
      sucA; 2-oxoglutarate dehydrogenase E1 component; Reviewed
      cd02016
      Location:176 → 449
      TPP_E1_OGDC_like; Thiamine pyrophosphate (TPP) family, E1 of OGDC-like subfamily, TPP-binding module; composed of proteins similar to the E1 component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDC). OGDC catalyzes the oxidative decarboxylation of ...
      pfam02779
      Location:569 → 771
      Transket_pyr; Transketolase, pyrimidine binding domain
      pfam16870
      Location:778 → 918
      OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086035.1 Reference GRCr8

      Range
      77242512..77316074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063276635.1 → XP_063132705.1  2-oxoadipate dehydrogenase complex component E1 isoform X1

      UniProtKB/TrEMBL
      A0A8L2UN65

    2. XM_063276636.1 → XP_063132706.1  2-oxoadipate dehydrogenase complex component E1 isoform X2

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4KLP0.1 GenPept UniProtKB/Swiss-Prot:Q4KLP0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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