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Dhtkd1
Gene Detail
 Symbol
Name
ID
Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
MGI:2445096
Synonyms C330018I04Rik
Feature Type protein coding gene
Genetic Map
Chromosome 2
3.62 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr2:5896115-5942792 bp, - strand
From VEGA annotation of GRCm38

  46678 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10278  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: 2-oxoglutarate dehydrogenase, E1 component
Gene Tree: Dhtkd1

Human
homologs
Human Homolog DHTKD1, dehydrogenase E1 and transketolase domain containing 1
NCBI Gene ID 55526
neXtProt AC  NX_Q96HY7
Human Synonyms  AMOXAD, CMT2Q
Human Chr (Location)  10p14; chr10:12068917-12123228 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human DHTKD1
Alleles
and
phenotypes
All alleles(9) : Gene trapped(9)
Incidental mutations (data from Mutagenetix , APF )
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process generation of precursor metabolites and energy, glycolytic process, ...
Component mitochondrion
Function oxidoreductase activity, oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor, ...
External Resources: FuncBase
Expression
cDNA source data(3)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(4) Genomic(1) cDNA(3)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000010877 (Evidence)
Ensembl Gene ModelENSMUSG00000025815 (Evidence)
Entrez Gene209692 (Evidence)
DFCITC1597295, TC1679550
EC1.2.4.2
Consensus CDS ProjectCCDS38040.1
International Mouse Knockout Project StatusDhtkd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010877 VEGA Gene Model | MGI Sequence Detail 46678 C57BL/6J ±  kb
transcript OTTMUST00000025469 VEGA | MGI Sequence Detail 4964 Not Applicable 
polypeptide OTTMUSP00000011666 VEGA | MGI Sequence Detail 921 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(7) UniProt(1)
Polymorphisms SNPs within 2kb(324 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011603 2-oxoglutarate dehydrogenase, E1 component
InterPro IPR001017 Dehydrogenase, E1 component
InterPro IPR005475 Transketolase-like, pyrimidine-binding domain
Protein Ontology PR:000031142 probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
References (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
All references(30)

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
07/15/2014
MGI 5.18
The Jackson Laboratory