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TKTL1 (transketolase-like 1)

Identity

Other namesTKR
TKT2
HGNC (Hugo) TKTL1
LocusID (NCBI) 8277
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 (Hinxton)ENSG00000007350 [Gene_View]  chrX:153524027-153558713 [Contig_View]  TKTL1 [Vega]
ICGC DataPortalENSG00000007350
cBioPortalTKTL1
AceView (NCBI)TKTL1
Genatlas (Paris)TKTL1
WikiGenes8277
SOURCE (Princeton)NM_001145933 NM_001145934 NM_012253
Genomic and cartography
GoldenPath (UCSC)TKTL1  -  Xq28   chrX:153524027-153558713 +  Xq28   [Description]    (hg19-Feb_2009)
EnsemblTKTL1 - Xq28 [CytoView]
Mapping of homologs : NCBITKTL1 [Mapview]
OMIM300044   
Gene and transcription
Genbank (Entrez)AK292224 AK292261 AK301724 AK302044 AK302261
RefSeq transcript (Entrez)NM_001145933 NM_001145934 NM_012253
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_028264 NT_011681 NW_001842419 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51854 (Uniprot)
NextProtP51854  [Medical]
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 [organisation]   Transketo_C/Pyr-ferredox_oxred [organisation]   Transketolase-like_Pyr-bd [organisation]   Transketolase_BS [organisation]   Transketolase_C [organisation]   Transketolase_N [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP51854
HPRD02080
IPIIPI00747585   IPI00644689   IPI00922309   IPI00926092   IPI00844184   IPI00827651   IPI00827648   IPI00893346   
Protein Interaction databases
DIP (DOE-UCLA)P51854
IntAct (EBI)P51854
FunCoupENSG00000007350
BioGRIDTKTL1
InParanoidP51854
Interologous Interaction database P51854
IntegromeDBTKTL1
STRING (EMBL)TKTL1
Ontologies - Pathways
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
Wikipedia pathwaysTKTL1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TKTL1
snp3D : Map Gene to Disease8277
SNP (GeneSNP Utah)TKTL1
SNP : HGBaseTKTL1
Genetic variants : HAPMAPTKTL1
Exome VariantTKTL1
1000_GenomesTKTL1 
ICGC programENSG00000007350 
Somatic Mutations in Cancer : COSMICTKTL1 
CONAN: Copy Number AnalysisTKTL1 
Mutations and Diseases : HGMDTKTL1
Genomic VariantsTKTL1  TKTL1 [DGVbeta]
dbVarTKTL1
ClinVarTKTL1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300044   
MedgenTKTL1
GENETestsTKTL1
Disease Genetic AssociationTKTL1
Huge Navigator TKTL1 [HugePedia]  TKTL1 [HugeCancerGEM]
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
PubMed41 Pubmed reference(s) in Entrez
CoreMineTKTL1
iHOPTKTL1
OncoSearchTKTL1
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:50:06 CEST 2014

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