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Dhtkd1 Gene Detail
Summary
  • Symbol
    Dhtkd1
  • Name
    dehydrogenase E1 and transketolase domain containing 1
  • Synonyms
    C330018I04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2445096
    NCBI Gene: 209692
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:5901030-5947648 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 3.62 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1562 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2445096
 protein coding gene Chr2:5900926-5947648 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025327
 protein coding gene Chr2:3029476-3083090 (-)
A/J MGP_AJ_G0025304
 protein coding gene Chr2:2888888-2936943 (-)
AKR/J MGP_AKRJ_G0025272
 protein coding gene Chr2:2974078-3021245 (-)
BALB/cJ MGP_BALBcJ_G0025300
 protein coding gene Chr2:2867239-2914002 (-)
C3H/HeJ MGP_C3HHeJ_G0025060
 protein coding gene Chr2:2931647-2976950 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025742
 protein coding gene Chr2:3107645-3165001 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023156
 protein coding gene Chr2:2697949-2741066 (-)
CAST/EiJ MGP_CASTEiJ_G0024523
 protein coding gene Chr2:2974880-3027604 (-)
CBA/J MGP_CBAJ_G0025039
 protein coding gene Chr2:3241824-3307770 (-)
DBA/2J MGP_DBA2J_G0025171
 protein coding gene Chr2:2831791-2882525 (-)
FVB/NJ MGP_FVBNJ_G0025133
 protein coding gene Chr2:2831854-2877685 (-)
LP/J MGP_LPJ_G0025257
 protein coding gene Chr2:2975081-3025836 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025165
 protein coding gene Chr2:3090631-3142799 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025800
 protein coding gene Chr2:2966512-3015628 (-)
PWK/PhJ MGP_PWKPhJ_G0024274
 protein coding gene Chr2:2826421-2874466 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024074
 protein coding gene Chr2:2947646-2994803 (-)
WSB/EiJ MGP_WSBEiJ_G0024593
 protein coding gene Chr2:3001227-3057925 (-)



Homology
more
  • Human Ortholog
    DHTKD1, dehydrogenase E1 and transketolase domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DHTKD1, dehydrogenase E1 and transketolase domain containing 1
  • Synonyms
    AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1
  • Links
    NCBI Gene ID: 55526
    neXtProt AC: NX_Q96HY7
    UniProt: Q96HY7

  • Chr Location
    10p14; chr10:12068954-12123221 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Dhtkd1 mouse models; 2 with human DHTKD1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 4 alleles in 4 genetic backgrounds
    5 phenotypes from multigenic genotypes
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Null mice show progressive muscle weakness and atrophy, motor and sensory dysfunctions, decreased nerve conduction velocity, increased 2-ketoadipic acid and 2-aminoadipic acid in urine, elevated insulin levels, myelin damage and axonal degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 209692 NCBI Gene Model | MGI Sequence Detail 46619 C57BL/6J ±  kb
    transcript NM_001081131 RefSeq | MGI Sequence Detail 3535 Not Specified  
    polypeptide A2ATU0 UniProt | EBI | MGI Sequence Detail 921 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000031142 2-oxoadipate dehydrogenase complex component E1
      (term hierarchy)
    • EC
      1.2.4.-
    • InterPro Domains
      IPR011603 2-oxoglutarate dehydrogenase E1 component
      IPR001017 Dehydrogenase, E1 component
      IPR031717 Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal
      IPR042179 Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal domain superfamily
      IPR029061 Thiamin diphosphate-binding fold
      IPR005475 Transketolase-like, pyrimidine-binding domain
    • GlyGen
      A2ATU0 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 5
      Genomic 2
      cDNA 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 41
      Diseases 3
      Gene Ontology 8
      Phenotypes 16
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory