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

Gene ID: 55526, updated on 9-Apr-2023

Summary

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

See DHTKD1 in Genome Data Viewer
Location:
10p14
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (12068954..12123221)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (12080265..12134492)
105.20220307 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 uncharacterized LOC105376416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12170601-12171480 Neighboring gene RNA, U6 small nuclear 88, pseudogene Neighboring gene microRNA 548ak Neighboring gene SEC61 translocon subunit alpha 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC3090, KIAA1630, DKFZp762M115

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
involved_in tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_018706.7NP_061176.4  2-oxoadipate dehydrogenase complex component E1

    Status: REVIEWED

    Source sequence(s)
    AC073160
    Consensus CDS
    CCDS7087.1
    UniProtKB/Swiss-Prot
    Q9HCE2
    Related
    ENSP00000263035.4, ENST00000263035.9
    Conserved Domains (1) summary
    cl25580
    Location:58919
    OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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)