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PTS (6-pyruvoyltetrahydropterin synthase)

Identity

Alias (NCBI)PTPS
HGNC (Hugo) PTS
HGNC Alias symbPTPS
LocusID (NCBI) 5805
Atlas_Id 72397
Location 11q23.1  [Link to chromosome band 11q23]
Location_base_pair Starts at 112226365 and ends at 112233972 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)

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)PTS   9689
Cards
Entrez_Gene (NCBI)PTS    6-pyruvoyltetrahydropterin synthase
AliasesPTPS
GeneCards (Weizmann)PTS
Ensembl hg19 (Hinxton)ENSG00000150787 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000150787 [Gene_View]  ENSG00000150787 [Sequence]  chr11:112226365-112233972 [Contig_View]  PTS [Vega]
ICGC DataPortalENSG00000150787
TCGA cBioPortalPTS
AceView (NCBI)PTS
Genatlas (Paris)PTS
SOURCE (Princeton)PTS
Genetics Home Reference (NIH)PTS
Genomic and cartography
GoldenPath hg38 (UCSC)PTS  -     chr11:112226365-112233972 +  11q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTS  -     11q23.1   [Description]    (hg19-Feb_2009)
GoldenPathPTS - 11q23.1 [CytoView hg19]  PTS - 11q23.1 [CytoView hg38]
ImmunoBaseENSG00000150787
genome Data Viewer NCBIPTS [Mapview hg19]  
OMIM261640   612719   
Gene and transcription
Genbank (Entrez)AK307133 AK310768 BC009686 BC018029 CF529329
RefSeq transcript (Entrez)NM_000317
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTS
Alternative Splicing GalleryENSG00000150787
Gene ExpressionPTS [ NCBI-GEO ]   PTS [ EBI - ARRAY_EXPRESS ]   PTS [ SEEK ]   PTS [ MEM ]
Gene Expression Viewer (FireBrowse)PTS [ Firebrowse - Broad ]
GenevisibleExpression of PTS in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5805
GTEX Portal (Tissue expression)PTS
Human Protein AtlasENSG00000150787-PTS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03393   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03393  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03393
Splice isoforms : SwissVarQ03393
PhosPhoSitePlusQ03393
Domaine pattern : Prosite (Expaxy)PTPS_1 (PS00987)    PTPS_2 (PS00988)   
Domains : Interpro (EBI)6-PTP_synth/QueD    6-PTP_synth/QueD_sf    PTPS_Cys_AS    PTPS_His_AS   
Domain families : Pfam (Sanger)PTPS (PF01242)   
Domain families : Pfam (NCBI)pfam01242   
Conserved Domain (NCBI)PTS
Blocks (Seattle)PTS
PDB (RSDB)3I2B   
PDB Europe3I2B   
PDB (PDBSum)3I2B   
PDB (IMB)3I2B   
Structural Biology KnowledgeBase3I2B   
SCOP (Structural Classification of Proteins)3I2B   
CATH (Classification of proteins structures)3I2B   
SuperfamilyQ03393
Human Protein Atlas [tissue]ENSG00000150787-PTS [tissue]
Peptide AtlasQ03393
HPRD11840
IPIIPI00010339   IPI00982038   IPI00982676   IPI00984635   
Protein Interaction databases
DIP (DOE-UCLA)Q03393
IntAct (EBI)Q03393
BioGRIDPTS
STRING (EMBL)PTS
ZODIACPTS
Ontologies - Pathways
QuickGOQ03393
Ontology : AmiGO6-pyruvoyltetrahydropterin synthase activity  protein binding  cytoplasm  mitochondrion  mitochondrion  cytosol  cellular amino acid metabolic process  tetrahydrobiopterin biosynthetic process  central nervous system development  identical protein binding  protein homodimerization activity  metal ion binding  cofactor metabolic process  
Ontology : EGO-EBI6-pyruvoyltetrahydropterin synthase activity  protein binding  cytoplasm  mitochondrion  mitochondrion  cytosol  cellular amino acid metabolic process  tetrahydrobiopterin biosynthetic process  central nervous system development  identical protein binding  protein homodimerization activity  metal ion binding  cofactor metabolic process  
Pathways : KEGGFolate biosynthesis   
NDEx NetworkPTS
Atlas of Cancer Signalling NetworkPTS
Wikipedia pathwaysPTS
Orthology - Evolution
OrthoDB5805
GeneTree (enSembl)ENSG00000150787
Phylogenetic Trees/Animal Genes : TreeFamPTS
HOGENOMQ03393
Homologs : HomoloGenePTS
Homology/Alignments : Family Browser (UCSC)PTS
Gene fusions - Rearrangements
Fusion : QuiverPTS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTS [hg38]
dbVarPTS
ClinVarPTS
MonarchPTS
1000_GenomesPTS 
Exome Variant ServerPTS
GNOMAD BrowserENSG00000150787
Varsome BrowserPTS
Genomic Variants (DGV)PTS [DGVbeta]
DECIPHERPTS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTS 
Mutations
ICGC Data PortalPTS 
TCGA Data PortalPTS 
Broad Tumor PortalPTS
OASIS PortalPTS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTS  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPTS
Mutations and Diseases : HGMDPTS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PTS
DgiDB (Drug Gene Interaction Database)PTS
DoCM (Curated mutations)PTS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTS (select a term)
intoGenPTS
Cancer3DPTS(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261640    612719   
Orphanet771   
DisGeNETPTS
MedgenPTS
Genetic Testing Registry PTS
NextProtQ03393 [Medical]
GENETestsPTS
Target ValidationPTS
Huge Navigator PTS [HugePedia]
ClinGenPTS
Clinical trials, drugs, therapy
MyCancerGenomePTS
Protein Interactions : CTD
Pharm GKB GenePA34032
Clinical trialPTS
Miscellaneous
canSAR (ICR)PTS (select the gene name)
HarmonizomePTS
DataMed IndexPTS
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTS
EVEXPTS
GoPubMedPTS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:23:58 CET 2020

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