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

Gene ID: 55526, updated on 28-Mar-2020

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
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
CMT2Q; AMOXAD
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

Genomic context

See DHTKD1 in Genome Data Viewer
Location:
10p14
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (12068954..12123221)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (12110916..12165227)

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 RNA, U6 small nuclear 88, pseudogene Neighboring gene microRNA 548ak Neighboring gene SEC61 translocon subunit alpha 2 Neighboring gene nudix hydrolase 5

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

Homology

Clone Names

  • MGC3090, KIAA1630, DKFZp762M115

Gene Ontology Provided by GOA

Function Evidence Code Pubs
oxoglutarate dehydrogenase (succinyl-transferring) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamine pyrophosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
generation of precursor metabolites and energy IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycolytic process IEA
Inferred from Electronic Annotation
more info
 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
oxoglutarate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Names
dehydrogenase E1 and transketolase domain-containing protein 1
NP_061176.4

NCBI Reference Sequences (RefSeq)

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_033248.1 RefSeqGene

    Range
    5001..59312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018706.7NP_061176.4  probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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