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DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)

Identity

Alias_symbol (synonym)KIAA1630
MGC3090
DKFZP762M115
CMT2Q
Other aliasAMOXAD
HGNC (Hugo) DHTKD1
LocusID (NCBI) 55526
Atlas_Id 62476
Location 10p14  [Link to chromosome band 10p14]
Location_base_pair Starts at 12068917 and ends at 12123228 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DHTKD1 (10p14) / IFT122 (3q21.3)UBE2V1 (20q13.13) / DHTKD1 (10p14)WDR74 (11q12.3) / DHTKD1 (10p14)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DHTKD1   23537
Cards
Entrez_Gene (NCBI)DHTKD1  55526  dehydrogenase E1 and transketolase domain containing 1
AliasesAMOXAD; CMT2Q
GeneCards (Weizmann)DHTKD1
Ensembl hg19 (Hinxton)ENSG00000181192 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181192 [Gene_View]  chr10:12068917-12123228 [Contig_View]  DHTKD1 [Vega]
ICGC DataPortalENSG00000181192
TCGA cBioPortalDHTKD1
AceView (NCBI)DHTKD1
Genatlas (Paris)DHTKD1
WikiGenes55526
SOURCE (Princeton)DHTKD1
Genetics Home Reference (NIH)DHTKD1
Genomic and cartography
GoldenPath hg38 (UCSC)DHTKD1  -     chr10:12068917-12123228 +  10p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHTKD1  -     10p14   [Description]    (hg19-Feb_2009)
EnsemblDHTKD1 - 10p14 [CytoView hg19]  DHTKD1 - 10p14 [CytoView hg38]
Mapping of homologs : NCBIDHTKD1 [Mapview hg19]  DHTKD1 [Mapview hg38]
OMIM204750   614984   615025   
Gene and transcription
Genbank (Entrez)AA009773 AA393480 AI823832 AK309810 AL359587
RefSeq transcript (Entrez)NM_018706
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DHTKD1
Cluster EST : UnigeneHs.568075 [ NCBI ]
CGAP (NCI)Hs.568075
Alternative Splicing GalleryENSG00000181192
Gene ExpressionDHTKD1 [ NCBI-GEO ]   DHTKD1 [ EBI - ARRAY_EXPRESS ]   DHTKD1 [ SEEK ]   DHTKD1 [ MEM ]
Gene Expression Viewer (FireBrowse)DHTKD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55526
GTEX Portal (Tissue expression)DHTKD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96HY7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96HY7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96HY7
Splice isoforms : SwissVarQ96HY7
Catalytic activity : Enzyme1.2.4.2 [ Enzyme-Expasy ]   1.2.4.21.2.4.2 [ IntEnz-EBI ]   1.2.4.2 [ BRENDA ]   1.2.4.2 [ KEGG ]   
PhosPhoSitePlusQ96HY7
Domains : Interpro (EBI)2oxoglutarate_DH_E1    DH_E1    KGD_C    THDP-binding    Transketolase-like_Pyr-bd   
Domain families : Pfam (Sanger)E1_dh (PF00676)    OxoGdeHyase_C (PF16870)    Transket_pyr (PF02779)   
Domain families : Pfam (NCBI)pfam00676    pfam16870    pfam02779   
Domain families : Smart (EMBL)Transket_pyr (SM00861)  
Conserved Domain (NCBI)DHTKD1
DMDM Disease mutations55526
Blocks (Seattle)DHTKD1
SuperfamilyQ96HY7
Human Protein AtlasENSG00000181192
Peptide AtlasQ96HY7
HPRD09917
IPIIPI00063408   IPI00640072   IPI00640506   IPI00644967   
Protein Interaction databases
DIP (DOE-UCLA)Q96HY7
IntAct (EBI)Q96HY7
FunCoupENSG00000181192
BioGRIDDHTKD1
STRING (EMBL)DHTKD1
ZODIACDHTKD1
Ontologies - Pathways
QuickGOQ96HY7
Ontology : AmiGOhematopoietic progenitor cell differentiation  oxoglutarate dehydrogenase (succinyl-transferring) activity  mitochondrion  mitochondrial matrix  cytosol  generation of precursor metabolites and energy  glycolytic process  tricarboxylic acid cycle  thiamine pyrophosphate binding  oxoglutarate dehydrogenase complex  glyoxylate metabolic process  
Ontology : EGO-EBIhematopoietic progenitor cell differentiation  oxoglutarate dehydrogenase (succinyl-transferring) activity  mitochondrion  mitochondrial matrix  cytosol  generation of precursor metabolites and energy  glycolytic process  tricarboxylic acid cycle  thiamine pyrophosphate binding  oxoglutarate dehydrogenase complex  glyoxylate metabolic process  
NDEx NetworkDHTKD1
Atlas of Cancer Signalling NetworkDHTKD1
Wikipedia pathwaysDHTKD1
Orthology - Evolution
OrthoDB55526
GeneTree (enSembl)ENSG00000181192
Phylogenetic Trees/Animal Genes : TreeFamDHTKD1
HOVERGENQ96HY7
HOGENOMQ96HY7
Homologs : HomoloGeneDHTKD1
Homology/Alignments : Family Browser (UCSC)DHTKD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHTKD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHTKD1
dbVarDHTKD1
ClinVarDHTKD1
1000_GenomesDHTKD1 
Exome Variant ServerDHTKD1
ExAC (Exome Aggregation Consortium)DHTKD1 (select the gene name)
Genetic variants : HAPMAP55526
Genomic Variants (DGV)DHTKD1 [DGVbeta]
DECIPHERDHTKD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDHTKD1 
Mutations
ICGC Data PortalDHTKD1 
TCGA Data PortalDHTKD1 
Broad Tumor PortalDHTKD1
OASIS PortalDHTKD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDHTKD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDHTKD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DHTKD1
DgiDB (Drug Gene Interaction Database)DHTKD1
DoCM (Curated mutations)DHTKD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DHTKD1 (select a term)
intoGenDHTKD1
Cancer3DDHTKD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM204750    614984    615025   
Orphanet21919    11180   
MedgenDHTKD1
Genetic Testing Registry DHTKD1
NextProtQ96HY7 [Medical]
TSGene55526
GENETestsDHTKD1
Target ValidationDHTKD1
Huge Navigator DHTKD1 [HugePedia]
snp3D : Map Gene to Disease55526
BioCentury BCIQDHTKD1
ClinGenDHTKD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55526
Chemical/Pharm GKB GenePA134962952
Clinical trialDHTKD1
Miscellaneous
canSAR (ICR)DHTKD1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDHTKD1
EVEXDHTKD1
GoPubMedDHTKD1
iHOPDHTKD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:45:53 CEST 2017

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