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THTPA (thiamine triphosphatase)

Identity

Alias (NCBI)THTP
THTPASE
HGNC (Hugo) THTPA
HGNC Alias symbTHTPASE
LocusID (NCBI) 79178
Atlas_Id 74689
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23556271 and ends at 23560271 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)
DSCAML1 (11q23.3) / THTPA (14q11.2)MAN1C1 (1p36.11) / THTPA (14q11.2)THTPA (14q11.2) / AP1G2 (14q11.2)

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)THTPA   18987
Cards
Entrez_Gene (NCBI)THTPA    thiamine triphosphatase
AliasesTHTP; THTPASE
GeneCards (Weizmann)THTPA
Ensembl hg19 (Hinxton)ENSG00000259431 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000259431 [Gene_View]  ENSG00000259431 [Sequence]  chr14:23556271-23560271 [Contig_View]  THTPA [Vega]
ICGC DataPortalENSG00000259431
TCGA cBioPortalTHTPA
AceView (NCBI)THTPA
Genatlas (Paris)THTPA
SOURCE (Princeton)THTPA
Genetics Home Reference (NIH)THTPA
Genomic and cartography
GoldenPath hg38 (UCSC)THTPA  -     chr14:23556271-23560271 +  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)THTPA  -     14q11.2   [Description]    (hg19-Feb_2009)
GoldenPathTHTPA - 14q11.2 [CytoView hg19]  THTPA - 14q11.2 [CytoView hg38]
ImmunoBaseENSG00000259431
Genome Data Viewer NCBITHTPA [Mapview hg19]  
OMIM611612   
Gene and transcription
Genbank (Entrez)AF432862 AK057691 AK090747 AK094211 AK098604
RefSeq transcript (Entrez)NM_001126339 NM_001256062 NM_001256321 NM_001256322 NM_001256323 NM_024328
Consensus coding sequences : CCDS (NCBI)THTPA
Gene ExpressionTHTPA [ NCBI-GEO ]   THTPA [ EBI - ARRAY_EXPRESS ]   THTPA [ SEEK ]   THTPA [ MEM ]
Gene Expression Viewer (FireBrowse)THTPA [ Firebrowse - Broad ]
GenevisibleExpression of THTPA in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79178
GTEX Portal (Tissue expression)THTPA
Human Protein AtlasENSG00000259431-THTPA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BU02   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BU02  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BU02
PhosPhoSitePlusQ9BU02
Domaine pattern : Prosite (Expaxy)CYTH (PS51707)   
Domains : Interpro (EBI)CYTH-like_dom_sf    CYTH_domain    THTPA    ThTPase_euk   
Domain families : Pfam (Sanger)CYTH (PF01928)   
Domain families : Pfam (NCBI)pfam01928   
Domain families : Smart (EMBL)CYTH (SM01118)  
Conserved Domain (NCBI)THTPA
PDB (RSDB)3BHD    3TVL   
PDB Europe3BHD    3TVL   
PDB (PDBSum)3BHD    3TVL   
PDB (IMB)3BHD    3TVL   
Structural Biology KnowledgeBase3BHD    3TVL   
SCOP (Structural Classification of Proteins)3BHD    3TVL   
CATH (Classification of proteins structures)3BHD    3TVL   
SuperfamilyQ9BU02
AlphaFold pdb e-kbQ9BU02   
Human Protein Atlas [tissue]ENSG00000259431-THTPA [tissue]
HPRD15505
Protein Interaction databases
DIP (DOE-UCLA)Q9BU02
IntAct (EBI)Q9BU02
BioGRIDTHTPA
STRING (EMBL)THTPA
ZODIACTHTPA
Ontologies - Pathways
QuickGOQ9BU02
Ontology : AmiGOmagnesium ion binding  magnesium ion binding  protein binding  cytosol  generation of precursor metabolites and energy  thiamine metabolic process  dephosphorylation  dephosphorylation  hydrolase activity  thiamine diphosphate metabolic process  thiamine diphosphate metabolic process  thiamine-containing compound metabolic process  thiamin-triphosphatase activity  thiamin-triphosphatase activity  
Ontology : EGO-EBImagnesium ion binding  magnesium ion binding  protein binding  cytosol  generation of precursor metabolites and energy  thiamine metabolic process  dephosphorylation  dephosphorylation  hydrolase activity  thiamine diphosphate metabolic process  thiamine diphosphate metabolic process  thiamine-containing compound metabolic process  thiamin-triphosphatase activity  thiamin-triphosphatase activity  
Pathways : KEGGThiamine metabolism   
NDEx NetworkTHTPA
Atlas of Cancer Signalling NetworkTHTPA
Wikipedia pathwaysTHTPA
Orthology - Evolution
OrthoDB79178
GeneTree (enSembl)ENSG00000259431
Phylogenetic Trees/Animal Genes : TreeFamTHTPA
Homologs : HomoloGeneTHTPA
Homology/Alignments : Family Browser (UCSC)THTPA
Gene fusions - Rearrangements
Fusion : QuiverTHTPA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTHTPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)THTPA
dbVarTHTPA
ClinVarTHTPA
MonarchTHTPA
1000_GenomesTHTPA 
Exome Variant ServerTHTPA
GNOMAD BrowserENSG00000259431
Varsome BrowserTHTPA
ACMGTHTPA variants
VarityQ9BU02
Genomic Variants (DGV)THTPA [DGVbeta]
DECIPHERTHTPA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTHTPA 
Mutations
ICGC Data PortalTHTPA 
TCGA Data PortalTHTPA 
Broad Tumor PortalTHTPA
OASIS PortalTHTPA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTHTPA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTHTPA
Mutations and Diseases : HGMDTHTPA
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTHTPA
DgiDB (Drug Gene Interaction Database)THTPA
DoCM (Curated mutations)THTPA
CIViC (Clinical Interpretations of Variants in Cancer)THTPA
Cancer3DTHTPA
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611612   
Orphanet
DisGeNETTHTPA
MedgenTHTPA
Genetic Testing Registry THTPA
NextProtQ9BU02 [Medical]
GENETestsTHTPA
Target ValidationTHTPA
Huge Navigator THTPA [HugePedia]
ClinGenTHTPA
Clinical trials, drugs, therapy
MyCancerGenomeTHTPA
Protein Interactions : CTDTHTPA
Pharm GKB GenePA38774
PharosQ9BU02
Clinical trialTHTPA
Miscellaneous
canSAR (ICR)THTPA
HarmonizomeTHTPA
DataMed IndexTHTPA
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTHTPA
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 16:25:30 CEST 2021

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