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    DHTKD1 dehydrogenase E1 and transketolase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55526, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DHTKD1provided by HGNC
    Official Full Name
    dehydrogenase E1 and transketolase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23537
    See related
    Ensembl:ENSG00000181192 MIM:614984; AllianceGenome:HGNC:23537
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E1a; AAKAD; CMT2Q; AMOXAD; OADC-E1; OADH-E1
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 30.3), kidney (RPKM 21.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DHTKD1 in Genome Data Viewer
    Location:
    10p14
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (12068954..12123221)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (12080265..12134492)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (12110953..12165220)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1095, pseudogene Neighboring gene UPF2 regulator of nonsense mediated mRNA decay Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3031 Neighboring gene uncharacterized LOC105376416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12170601-12171480 Neighboring gene RNA, U6 small nuclear 88, pseudogene Neighboring gene microRNA 548ak Neighboring gene small nucleolar RNA U13 Neighboring gene SEC61 translocon subunit alpha 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. Hagen J, et al. J Inherit Metab Dis, 2015 Sep. PMID 25860818
    2. DHTKD1 is essential for mitochondrial biogenesis and function maintenance. Xu W, et al. FEBS Lett, 2013 Nov 1. PMID 24076469
    3. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Danhauser K, et al. Am J Hum Genet, 2012 Dec 7. PMID 23141293, Free PMC Article
    4. Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. Osmanovic A, et al. Genes (Basel), 2021 Dec 29. PMID 35052424, Free PMC Article
    5. Knock-Out of DHTKD1 Alters Mitochondrial Respiration and Function, and May Represent a Novel Pathway in Cardiometabolic Disease Risk. Wang C, et al. Front Endocrinol (Lausanne), 2021. PMID 34484123, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
      Title: Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
    2. Knock-Out of DHTKD1 Alters Mitochondrial Respiration and Function, and May Represent a Novel Pathway in Cardiometabolic Disease Risk.
      Title: Knock-Out of DHTKD1 Alters Mitochondrial Respiration and Function, and May Represent a Novel Pathway in Cardiometabolic Disease Risk.
    3. DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.
      Title: DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.
    4. Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex.
      Title: Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex.
    5. Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism.
      Title: Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism.
    6. 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.
    7. DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex
      Title: Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
    8. DHTKD1 contributes to mitochondrial biogenesis and function maintenance.
      Title: DHTKD1 is essential for mitochondrial biogenesis and function maintenance.
    9. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
      Title: A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
    10. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
      Title: DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    2-aminoadipic 2-oxoadipic aciduria
    MedGen: C1859817 OMIM: 204750 GeneReviews: Not available
    		Compare labs
    Charcot-Marie-Tooth disease axonal type 2Q
    MedGen: C3554366 OMIM: 615025 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3090, KIAA1630, DKFZp762M115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2-oxoadipate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxoglutarate dehydrogenase (succinyl-transferring) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thiamine pyrophosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in generation of precursor metabolites and energy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of oxoadipate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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
    NP_061176.4

    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.

    Genomic

    1. NG_033248.2 RefSeqGene

      Range
      5002..59269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018706.7 → NP_061176.4  2-oxoadipate dehydrogenase complex component E1

      Status: REVIEWED

      Source sequence(s)
      AC073160
      Consensus CDS
      CCDS7087.1
      UniProtKB/Swiss-Prot
      Q68CU5, Q96HY7, Q9BUM8, Q9HCE2
      Related
      ENSP00000263035.4, ENST00000263035.9
      Conserved Domains (1) summary
      cl25580
      Location:58 → 919
      OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      12068954..12123221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      12080265..12134492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HY7.2 GenPept UniProtKB/Swiss-Prot:Q96HY7

    Gene LinkOut

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

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