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

Gene ID: 361272, updated on 2-Nov-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, Nov 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

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

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

  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.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous