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TKTL1 (transketolase-like 1)

Identity

Other namesTKR
TKT2
HGNC (Hugo) TKTL1
LocusID (NCBI) 8277
Atlas_Id 46003
Location Xq28
Location_base_pair Starts at 153524027 and ends at 153558713 bp from pter ( according to hg19-Feb_2009)

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)TKTL1   11835
Cards
Entrez_Gene (NCBI)TKTL1  8277  transketolase-like 1
GeneCards (Weizmann)TKTL1
Ensembl hg19 (Hinxton)ENSG00000007350 [Gene_View]  chrX:153524027-153558713 [Contig_View]  TKTL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000007350 [Gene_View]  chrX:153524027-153558713 [Contig_View]  TKTL1 [Vega]
ICGC DataPortalENSG00000007350
TCGA cBioPortalTKTL1
AceView (NCBI)TKTL1
Genatlas (Paris)TKTL1
WikiGenes8277
SOURCE (Princeton)TKTL1
Genomic and cartography
GoldenPath hg19 (UCSC)TKTL1  -     chrX:153524027-153558713 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TKTL1  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblTKTL1 - Xq28 [CytoView hg19]  TKTL1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBITKTL1 [Mapview hg19]  TKTL1 [Mapview hg38]
OMIM300044   
Gene and transcription
Genbank (Entrez)AK292224 AK292261 AK301724 AK302044 AK302261
RefSeq transcript (Entrez)NM_001145933 NM_001145934 NM_012253
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_028264 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)TKTL1
Cluster EST : UnigeneHs.102866 [ NCBI ]
CGAP (NCI)Hs.102866
Alternative Splicing : Fast-db (Paris)GSHG0031918
Alternative Splicing GalleryENSG00000007350
Gene ExpressionTKTL1 [ NCBI-GEO ]     TKTL1 [ SEEK ]   TKTL1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51854 (Uniprot)
NextProtP51854  [Medical]  [Publications]
With graphics : InterProP51854
Splice isoforms : SwissVarP51854 (Swissvar)
Catalytic activity : Enzyme2.2.1.1 [ Enzyme-Expasy ]   2.2.1.12.2.1.1 [ IntEnz-EBI ]   2.2.1.1 [ BRENDA ]   2.2.1.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)TRANSKETOLASE_2 (PS00802)   
Domains : Interpro (EBI)THDP-binding    Transketo_C/Pyr-ferredox_oxred    Transketolase-like_Pyr-bd    Transketolase_BS    Transketolase_C    Transketolase_N   
Related proteins : CluSTrP51854
Domain families : Pfam (Sanger)Transket_pyr (PF02779)    Transketolase_C (PF02780)    Transketolase_N (PF00456)   
Domain families : Pfam (NCBI)pfam02779    pfam02780    pfam00456   
Domain families : Smart (EMBL)Transket_pyr (SM00861)  
DMDM Disease mutations8277
Blocks (Seattle)P51854
Human Protein AtlasENSG00000007350
Peptide AtlasP51854
HPRD02080
IPIIPI00747585   IPI00644689   IPI00922309   IPI00926092   IPI00844184   IPI00827651   IPI00827648   IPI00893346   
Protein Interaction databases
DIP (DOE-UCLA)P51854
IntAct (EBI)P51854
FunCoupENSG00000007350
BioGRIDTKTL1
IntegromeDBTKTL1
STRING (EMBL)TKTL1
Ontologies - Pathways
QuickGOP51854
Ontology : AmiGOtransketolase activity  nucleus  cytoplasm  glucose catabolic process  thiamine metabolic process  metal ion binding  
Ontology : EGO-EBItransketolase activity  nucleus  cytoplasm  glucose catabolic process  thiamine metabolic process  metal ion binding  
Pathways : KEGGPentose phosphate pathway   
Protein Interaction DatabaseTKTL1
DoCM (Curated mutations)TKTL1
Wikipedia pathwaysTKTL1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerTKTL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TKTL1
dbVarTKTL1
ClinVarTKTL1
1000_GenomesTKTL1 
Exome Variant ServerTKTL1
SNP (GeneSNP Utah)TKTL1
SNP : HGBaseTKTL1
Genetic variants : HAPMAPTKTL1
Genomic Variants (DGV)TKTL1 [DGVbeta]
Mutations
ICGC Data PortalTKTL1 
TCGA Data PortalTKTL1 
Tumor PortalTKTL1
Somatic Mutations in Cancer : COSMICTKTL1 
LOVD (Leiden Open Variation Database)genes/TKTL1
LOVD (Leiden Open Variation Database)genes/TKTL1
LOVD (Leiden Open Variation Database)genes/TKTL1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:153524027-153558713
CONAN: Copy Number AnalysisTKTL1 
Mutations and Diseases : HGMDTKTL1
OMIM300044   
MedgenTKTL1
NextProtP51854 [Medical]
GENETestsTKTL1
Disease Genetic AssociationTKTL1
Huge Navigator TKTL1 [HugePedia]  TKTL1 [HugeCancerGEM]
snp3D : Map Gene to Disease8277
DGIdb (Drug Gene Interaction db)TKTL1
BioCentury BCIQTKTL1
General knowledge
Homologs : HomoloGeneTKTL1
Homology/Alignments : Family Browser (UCSC)TKTL1
Phylogenetic Trees/Animal Genes : TreeFamTKTL1
Chemical/Protein Interactions : CTD8277
Chemical/Pharm GKB GenePA36538
Clinical trialTKTL1
Cancer Resource (Charite)ENSG00000007350
Other databases
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
CoreMineTKTL1
GoPubMedTKTL1
iHOPTKTL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 29 19:27:29 CEST 2015

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