DHTKD1 - dehydrogenase E1 and transketolase domain containing 1 Gene

Also Known as E1a; AAKAD; CMT2Q; AMOXAD; OADC-E1; OADH-E1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55526

About DHTKD1

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:12,068,954-12,123,221 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in liver (RPKM 30.3), kidney (RPKM 21.7) and 24 other tissues.

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]

DHTKD1 Products (1)

mRNA Protein Name
NM_018706.7 NP_061176.4 2-oxoadipate dehydrogenase complex component E1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables 2-oxoadipate dehydrogenase activity IDA
IDA: Inferred from direct assay
29191460 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence References Source
involved in generation of precursor metabolites and energy IMP
IMP: Inferred from mutant phenotype
23141294 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
23141294 GOA
part of oxoadipate dehydrogenase complex IDA
IDA: Inferred from direct assay
29191460 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHTKD1 Protein Structure

E1_dh

E1_dh: Dehydrogenase E1 component (239 - 500)

Transket_pyr

Transket_pyr: Transketolase, pyrimidine binding domain (568 - 772)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 919 a.a.
Protein Preferred Names Protein Names

2-oxoadipate dehydrogenase complex component E1

  • 2-oxoadipate dehydrogenase, mitochondrial

Related Diseases

Diseases Alias
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria

  • 2-Aminoadipic 2-Oxoadipic Aciduria

  • Amoxad

  • AAKAD

  • 2-Ketoadipic Aciduria

  • Alpha-Aminoadipic Aciduria

  • Amino Adipic Aciduria

  • Aciduria, 2-Aminoadipic 2-Oxoadipic
Charcot-Marie-Tooth Disease, Axonal, Type 2q

  • Charcot-Marie-Tooth Disease Axonal Type 2q

  • CMT2Q

  • Charcot-Marie-Tooth Neuropathy, Type 2q

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q

  • Charcot-Marie-Tooth Neuropathy Type 2q

  • Charcot-Marie-Tooth Disease 2q

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2q
Tooth Disease

  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders
Charcot-Marie-Tooth Disease

  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease, Axonal, Type 2e

  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii
Hyperlysinemia, Type I

  • Hyperlysinemia

  • Lysine Intolerance

  • Alpha-Aminoadipic Semialdehyde Synthase Deficiency

  • Lysine:Alpha-Ketoglutarate Reductase Deficiency

  • L-Lysine:Nad-Oxido-Reductase Deficiency

  • Lysine Alpha-Ketoglutarate Reductase Deficiency

  • Alpha-Aminoadipic Semialdehyde Deficiency Disease

  • Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

  • Saccharopinuria

  • Hyperlysinemia Type I

  • Hyperlysinemias

  • L-Lysine Nad-Oxido-Reductase Deficiency

  • Familial Hyperlysinemia

  • Saccharopine Dehydrogenase Deficiency Disease

  • Hyperlysinemia, 1

  • HYPLYS1

  • Saccharopine Dehydrogenase Deficiency
Glutaric Acidemia I

  • Glutaryl-Coa Dehydrogenase Deficiency

  • GA1

  • Glutaric Acidemia Type 1

  • Glutaric Aciduria 1

  • Glutaric Aciduria Type 1

  • Glutaric Acidemia Type I

  • Glutaric Aciduria, Type 1

  • Glutaric Aciduria I

  • Ga I

  • Glutaricaciduria, Type I

  • Glutaryl-Coenzyme A Dehydrogenase Deficiency

  • Glutaric Academia Type 1

  • Glutaric Aciduria Type I

  • Ga-1

  • Gcdh Deficiency

  • Ga 1

  • Glutaric Acidemia 1

  • Gcdhd

  • Glutaric Aciduria, Type I

  • Glutaricaciduria I

  • Ga-I

  • Glutaricaciduria, Type 1
Neuromuscular Disease

  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03747 DHTKD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21844 Dhtkd1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DHTKD1 RGD RGD:1308092
Mus musculus DHTKD1 MGD MGI:2445096
Felis catus DHTKD1 VGNC VGNC:83866
Bos taurus DHTKD1 VGNC VGNC:28047
Canis familiaris DHTKD1 VGNC VGNC:39938
Others DHTKD1 NCBI