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DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)

Identity

Alias (NCBI)AAKAD
AMOXAD
CMT2Q
HGNC (Hugo) DHTKD1
HGNC Alias symbKIAA1630
MGC3090
DKFZP762M115
CMT2Q
LocusID (NCBI) 55526
Atlas_Id 62476
Location 10p14  [Link to chromosome band 10p14]
Location_base_pair Starts at 12068954 and ends at 12123221 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    dehydrogenase E1 and transketolase domain containing 1
AliasesAAKAD; AMOXAD; CMT2Q
GeneCards (Weizmann)DHTKD1
Ensembl hg19 (Hinxton)ENSG00000181192 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181192 [Gene_View]  ENSG00000181192 [Sequence]  chr10:12068954-12123221 [Contig_View]  DHTKD1 [Vega]
ICGC DataPortalENSG00000181192
TCGA cBioPortalDHTKD1
AceView (NCBI)DHTKD1
Genatlas (Paris)DHTKD1
SOURCE (Princeton)DHTKD1
Genetics Home Reference (NIH)DHTKD1
Genomic and cartography
GoldenPath hg38 (UCSC)DHTKD1  -     chr10:12068954-12123221 +  10p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHTKD1  -     10p14   [Description]    (hg19-Feb_2009)
GoldenPathDHTKD1 - 10p14 [CytoView hg19]  DHTKD1 - 10p14 [CytoView hg38]
ImmunoBaseENSG00000181192
Genome Data Viewer NCBIDHTKD1 [Mapview hg19]  
OMIM204750   614984   615025   
Gene and transcription
Genbank (Entrez)AA009773 AA393480 AI823832 AK309810 AL359587
RefSeq transcript (Entrez)NM_018706
Consensus coding sequences : CCDS (NCBI)DHTKD1
Gene ExpressionDHTKD1 [ NCBI-GEO ]   DHTKD1 [ EBI - ARRAY_EXPRESS ]   DHTKD1 [ SEEK ]   DHTKD1 [ MEM ]
Gene Expression Viewer (FireBrowse)DHTKD1 [ Firebrowse - Broad ]
GenevisibleExpression of DHTKD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55526
GTEX Portal (Tissue expression)DHTKD1
Human Protein AtlasENSG00000181192-DHTKD1 [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusQ96HY7
Domains : Interpro (EBI)2oxoglutarate_DH_E1    DH_E1    KGD_C    KGD_C_sf    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
PDB (RSDB)6SY1    6U3J   
PDB Europe6SY1    6U3J   
PDB (PDBSum)6SY1    6U3J   
PDB (IMB)6SY1    6U3J   
Structural Biology KnowledgeBase6SY1    6U3J   
SCOP (Structural Classification of Proteins)6SY1    6U3J   
CATH (Classification of proteins structures)6SY1    6U3J   
SuperfamilyQ96HY7
AlphaFold pdb e-kbQ96HY7   
Human Protein Atlas [tissue]ENSG00000181192-DHTKD1 [tissue]
HPRD09917
Protein Interaction databases
DIP (DOE-UCLA)Q96HY7
IntAct (EBI)Q96HY7
BioGRIDDHTKD1
STRING (EMBL)DHTKD1
ZODIACDHTKD1
Ontologies - Pathways
QuickGOQ96HY7
Ontology : AmiGOhematopoietic progenitor cell differentiation  oxoglutarate dehydrogenase (succinyl-transferring) activity  protein binding  mitochondrion  mitochondrial matrix  generation of precursor metabolites and energy  glycolytic process  tricarboxylic acid cycle  thiamine pyrophosphate binding  
Ontology : EGO-EBIhematopoietic progenitor cell differentiation  oxoglutarate dehydrogenase (succinyl-transferring) activity  protein binding  mitochondrion  mitochondrial matrix  generation of precursor metabolites and energy  glycolytic process  tricarboxylic acid cycle  thiamine pyrophosphate binding  
NDEx NetworkDHTKD1
Atlas of Cancer Signalling NetworkDHTKD1
Wikipedia pathwaysDHTKD1
Orthology - Evolution
OrthoDB55526
GeneTree (enSembl)ENSG00000181192
Phylogenetic Trees/Animal Genes : TreeFamDHTKD1
Homologs : HomoloGeneDHTKD1
Homology/Alignments : Family Browser (UCSC)DHTKD1
Gene fusions - Rearrangements
Fusion : QuiverDHTKD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHTKD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHTKD1
dbVarDHTKD1
ClinVarDHTKD1
MonarchDHTKD1
1000_GenomesDHTKD1 
Exome Variant ServerDHTKD1
GNOMAD BrowserENSG00000181192
Varsome BrowserDHTKD1
ACMGDHTKD1 variants
VarityQ96HY7
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]  
Somatic Mutations in Cancer : COSMIC3DDHTKD1
Mutations and Diseases : HGMDDHTKD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDHTKD1
DgiDB (Drug Gene Interaction Database)DHTKD1
DoCM (Curated mutations)DHTKD1
CIViC (Clinical Interpretations of Variants in Cancer)DHTKD1
Cancer3DDHTKD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM204750    614984    615025   
Orphanet21919    11180   
DisGeNETDHTKD1
MedgenDHTKD1
Genetic Testing Registry DHTKD1
NextProtQ96HY7 [Medical]
GENETestsDHTKD1
Target ValidationDHTKD1
Huge Navigator DHTKD1 [HugePedia]
ClinGenDHTKD1
Clinical trials, drugs, therapy
MyCancerGenomeDHTKD1
Protein Interactions : CTDDHTKD1
Pharm GKB GenePA134962952
PharosQ96HY7
Clinical trialDHTKD1
Miscellaneous
canSAR (ICR)DHTKD1
HarmonizomeDHTKD1
DataMed IndexDHTKD1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDHTKD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:47:55 CEST 2021

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