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

Gene ID: 55526, updated on 3-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
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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 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 Variation Viewer (GRCh37.p13)

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

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