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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: DHTKD1
Protein SuperFamily: 2-oxoglutarate dehydrogenase, E1 component
Gene Tree: Dhtkd1

Human
homologs
DHTKD1, dehydrogenase E1 and transketolase domain containing 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 55526
neXtProt AC: NX_Q96HY7

Human Synonyms: AMOXAD, CMT2Q

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

Disease Associations: (2) Diseases Associated with Human DHTKD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
Interactions
Dhtkd1 interacts with 297 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Expression
cDNA source data(3)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase dhtkd1 ; ZFIN dhtkd1    NEW 
Molecular
reagents
All nucleic(4) Genomic(1) cDNA(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000010877 (Evidence)
Ensembl Gene Model ENSMUSG00000025815 (Evidence)
Entrez Gene 209692 (Evidence)
DFCI TC1597295, TC1679550
EC 1.2.4.2
Consensus CDS Project CCDS38040.1
International Mouse Phenotyping Consortium Status Dhtkd1
Sequences
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 sequences
All sequences(33) RefSeq(9) 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 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(28)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory