InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DHTKD1

Summary

InnateDB Protein

IDBP-53521.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DHTKD1

Protein Name

dehydrogenase E1 and transketolase domain containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000263035

InnateDB Gene

IDBG-53519 (DHTKD1)

Protein Structure

UniProt Annotation

Function

The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity). {ECO:0000250}.

Subcellular Localization

Mitochondrion {ECO:0000269PubMed:23141294}.

Disease Associations

Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:23141294}. Note=The disease is caused by mutations affecting the gene represented in this entry.2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased levels of 2- oxoadipate and 2-hydroxyadipate in the urine, and elevated 2- aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269PubMed:23141293}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004591	oxoglutarate dehydrogenase (succinyl-transferring) activity
GO:0016624	oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
GO:0030976	thiamine pyrophosphate binding

Biological Process

GO:0002244	hematopoietic progenitor cell differentiation
GO:0006091	generation of precursor metabolites and energy
GO:0006096	glycolytic process
GO:0006099	tricarboxylic acid cycle
GO:0008152	metabolic process
GO:0008219	cell death
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739

mitochondrion

Protein Structure and Domains

PDB ID

InterPro

IPR001017 Dehydrogenase, E1 component
IPR005475 Transketolase-like, pyrimidine-binding domain
IPR011603 2-oxoglutarate dehydrogenase E1 component
IPR029061 Thiamin diphosphate-binding fold

PFAM

PF00676
PF02779

PRINTS

PIRSF

PIRSF000157

SMART

SM00861

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt