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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
Location & Maps
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  • Genetic Map
    Chromosome 2, 3.62 cM
  • Mapping Data
    1 experiment
Homology
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  • Human Ortholog
    DHTKD1, dehydrogenase E1 and transketolase domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DHTKD1, dehydrogenase E1 and transketolase domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AMOXAD, CMT2Q
  • Links
    NCBI Gene ID: 55526
    neXtProt AC: NX_Q96HY7

  • Chr Location
    10p14; chr10:12068917-12123228 (+)  GRCh38.p2

Human Diseases
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  • Diseases
    2 with human DHTKD1 associations

Human Disease Mouse Models
       2-aminoadipic 2-Oxoadipic Aciduria; AMOXAD   OMIM: 204750
Charcot-Marie-Tooth Disease, Axonal, Type 2q; CMT2Q   OMIM: 615025
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotype references
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010877 VEGA Gene Model | MGI Sequence Detail 46678 C57BL/6J ±  kb
transcript OTTMUST00000025469 VEGA | MGI Sequence Detail 5480 Not Applicable  
polypeptide OTTMUSP00000011666 VEGA | MGI Sequence Detail 921 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    322 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000031142 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
  • EC
  • InterPro Domains
    IPR011603 2-oxoglutarate dehydrogenase E1 component
    IPR001017 Dehydrogenase, E1 component
    IPR031717 Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal
    IPR029061 Thiamin diphosphate-binding fold
    IPR005475 Transketolase-like, pyrimidine-binding domain
Molecular
Reagents
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  • All nucleic 4
    Genomic 1
    cDNA 3

    Microarray probesets 3
References
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  • Summaries
    All 26
    Gene Ontology 5
    Phenotypes 5
  • 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:202604 Nagamachi A, et al., Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell. 2013 Sep 9;24(3):305-17

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory