Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dhtkd1provided by MGI
Official Full Name: dehydrogenase E1 and transketolase domain containing 1provided by MGI
Primary source: MGI:MGI:2445096
See related: Ensembl:ENSMUSG00000025815 AllianceGenome:MGI:2445096
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: E1a; OADC-E1; OADH-E1; C330018I04Rik
Summary: Predicted to enable 2-oxoadipate dehydrogenase activity; oxoglutarate dehydrogenase (succinyl-transferring) activity; and thiamine pyrophosphate binding activity. Acts upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in mitochondrion. Predicted to be part of oxoadipate dehydrogenase complex. Used to study 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. 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: Broad expression in liver adult (RPKM 7.6), kidney adult (RPKM 6.4) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A1; 2 3.62 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (5901030..5947648, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (5896219..5942829, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.
Title: CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.
Dhtkd1(-/-) mice mimic the major aspects of CMT2 phenotypes, characterized by progressive weakness and atrophy in the distal parts of limbs with motor and sensory dysfunctions, which are accompanied with decreased nerve conduction velocity. Moreover, DHTKD1 deficiency causes severe metabolic abnormalities and dramatically increased levels of 2-ketoadipic acid (2-KAA) and 2-aminoadipic acid (2-AAA) in urine.
Title: DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
Title: Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
In the BXD mouse population, natural variants in Dhtkd1 lead to changes in metabolite levels of 2-aminoadipate and in turn are associated with diabetes status, independently of chow or high fat diet feeding.
Title: Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Gene trapped (1)
Spontaneous (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-oxoadipate dehydrogenase activity	IEA Inferred from Electronic Annotation 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	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
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
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

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_001074600.1

EC 1.2.4.2

XP_017172366.1

EC 1.2.4.2

XP_017172367.1

EC 1.2.4.2

XP_017172368.1

EC 1.2.4.2

XP_036016106.1

EC 1.2.4.2

XP_036016107.1

EC 1.2.4.2

XP_036016109.1

EC 1.2.4.2

XP_036016110.1

EC 1.2.4.2

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)

NM_001081131.2 → NP_001074600.1 2-oxoadipate dehydrogenase complex component E1

See identical proteins and their annotated locations for NP_001074600.1

Status: VALIDATED

Source sequence(s)

AL928924

Consensus CDS

CCDS38040.1

UniProtKB/Swiss-Prot

A2ATU0, Q0VFY3, Q69ZE3, Q8BWT3

Related

ENSMUSP00000092769.3, ENSMUST00000095147.9

Conserved Domains (4) summary

PRK09404
Location:37 → 920

sucA; 2-oxoglutarate dehydrogenase E1 component; Reviewed

cd02016
Location:177 → 450

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:568 → 772

Transket_pyr; Transketolase, pyrimidine binding domain

pfam16870
Location:779 → 919

OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

5901030..5947648 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160213.1 → XP_036016106.1 2-oxoadipate dehydrogenase complex component E1 isoform X1

Conserved Domains (1) summary

cl39092
Location:78 → 939

SucA; 2-oxoglutarate dehydrogenase complex, dehydrogenase (E1) component, and related enzymes [Energy production and conversion]
XM_017316878.1 → XP_017172367.1 2-oxoadipate dehydrogenase complex component E1 isoform X4

Conserved Domains (1) summary

cl39092
Location:1 → 472

SucA; 2-oxoglutarate dehydrogenase complex, dehydrogenase (E1) component, and related enzymes [Energy production and conversion]
XM_036160217.1 → XP_036016110.1 2-oxoadipate dehydrogenase complex component E1 isoform X4

Conserved Domains (1) summary

cl39092
Location:1 → 472

SucA; 2-oxoglutarate dehydrogenase complex, dehydrogenase (E1) component, and related enzymes [Energy production and conversion]
XM_017316877.1 → XP_017172366.1 2-oxoadipate dehydrogenase complex component E1 isoform X4

Conserved Domains (1) summary

cl39092
Location:1 → 472

SucA; 2-oxoglutarate dehydrogenase complex, dehydrogenase (E1) component, and related enzymes [Energy production and conversion]
XM_017316879.1 → XP_017172368.1 2-oxoadipate dehydrogenase complex component E1 isoform X4

Conserved Domains (1) summary

cl39092
Location:1 → 472

SucA; 2-oxoglutarate dehydrogenase complex, dehydrogenase (E1) component, and related enzymes [Energy production and conversion]
XM_036160214.1 → XP_036016107.1 2-oxoadipate dehydrogenase complex component E1 isoform X2

Conserved Domains (1) summary

cl39092
Location:78 → 788

SucA; 2-oxoglutarate dehydrogenase complex, dehydrogenase (E1) component, and related enzymes [Energy production and conversion]
XM_036160216.1 → XP_036016109.1 2-oxoadipate dehydrogenase complex component E1 isoform X3

Conserved Domains (1) summary

cd02016
Location:196 → 469

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 ...