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PUS1 (pseudouridylate synthase 1)

Identity

Other aliasMLASA1
HGNC (Hugo) PUS1
LocusID (NCBI) 80324
Atlas_Id 72399
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 131929253 and ends at 131943861 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
IL32 (16p13.3) / PUS1 (12q24.33)PUS1 (12q24.33) / SFSWAP (12q24.33)PUS1 (12q24.33) / ULK1 (12q24.33)

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)PUS1   15508
Cards
Entrez_Gene (NCBI)PUS1  80324  pseudouridylate synthase 1
AliasesMLASA1
GeneCards (Weizmann)PUS1
Ensembl hg19 (Hinxton)ENSG00000177192 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177192 [Gene_View]  chr12:131929253-131943861 [Contig_View]  PUS1 [Vega]
ICGC DataPortalENSG00000177192
TCGA cBioPortalPUS1
AceView (NCBI)PUS1
Genatlas (Paris)PUS1
WikiGenes80324
SOURCE (Princeton)PUS1
Genetics Home Reference (NIH)PUS1
Genomic and cartography
GoldenPath hg38 (UCSC)PUS1  -     chr12:131929253-131943861 +  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PUS1  -     12q24.33   [Description]    (hg19-Feb_2009)
EnsemblPUS1 - 12q24.33 [CytoView hg19]  PUS1 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIPUS1 [Mapview hg19]  PUS1 [Mapview hg38]
OMIM600462   608109   
Gene and transcription
Genbank (Entrez)AF116238 AF318369 AI566545 AI884644 AK074659
RefSeq transcript (Entrez)NM_001002019 NM_001002020 NM_025215
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PUS1
Cluster EST : UnigeneHs.592004 [ NCBI ]
CGAP (NCI)Hs.592004
Alternative Splicing GalleryENSG00000177192
Gene ExpressionPUS1 [ NCBI-GEO ]   PUS1 [ EBI - ARRAY_EXPRESS ]   PUS1 [ SEEK ]   PUS1 [ MEM ]
Gene Expression Viewer (FireBrowse)PUS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80324
GTEX Portal (Tissue expression)PUS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y606   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y606  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y606
Splice isoforms : SwissVarQ9Y606
Catalytic activity : Enzyme5.4.99.12 [ Enzyme-Expasy ]   5.4.99.125.4.99.12 [ IntEnz-EBI ]   5.4.99.12 [ BRENDA ]   5.4.99.12 [ KEGG ]   
PhosPhoSitePlusQ9Y606
Domains : Interpro (EBI)PsdUridine_synth_cat_dom    PsdUridine_synth_TruA    PsdUridine_synth_TruA_a/b_dom    PsdUridine_synth_TruA_C    PsdUridine_synth_TruA_N   
Domain families : Pfam (Sanger)PseudoU_synth_1 (PF01416)   
Domain families : Pfam (NCBI)pfam01416   
Conserved Domain (NCBI)PUS1
DMDM Disease mutations80324
Blocks (Seattle)PUS1
PDB (SRS)4IQM    4ITS    4J37    4NZ6    4NZ7   
PDB (PDBSum)4IQM    4ITS    4J37    4NZ6    4NZ7   
PDB (IMB)4IQM    4ITS    4J37    4NZ6    4NZ7   
PDB (RSDB)4IQM    4ITS    4J37    4NZ6    4NZ7   
Structural Biology KnowledgeBase4IQM    4ITS    4J37    4NZ6    4NZ7   
SCOP (Structural Classification of Proteins)4IQM    4ITS    4J37    4NZ6    4NZ7   
CATH (Classification of proteins structures)4IQM    4ITS    4J37    4NZ6    4NZ7   
SuperfamilyQ9Y606
Human Protein AtlasENSG00000177192
Peptide AtlasQ9Y606
HPRD10481
IPIIPI00619930   IPI00001716   IPI01012093   IPI00795171   IPI01009368   IPI01009394   IPI01009817   IPI01010216   IPI01010630   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y606
IntAct (EBI)Q9Y606
FunCoupENSG00000177192
BioGRIDPUS1
STRING (EMBL)PUS1
ZODIACPUS1
Ontologies - Pathways
QuickGOQ9Y606
Ontology : AmiGORNA binding  pseudouridylate synthase activity  nucleus  nucleus  mitochondrion  mitochondrial matrix  pseudouridine synthase activity  pseudouridine synthase activity  tRNA pseudouridine synthesis  mitochondrial tRNA pseudouridine synthesis  mRNA pseudouridine synthesis  
Ontology : EGO-EBIRNA binding  pseudouridylate synthase activity  nucleus  nucleus  mitochondrion  mitochondrial matrix  pseudouridine synthase activity  pseudouridine synthase activity  tRNA pseudouridine synthesis  mitochondrial tRNA pseudouridine synthesis  mRNA pseudouridine synthesis  
NDEx NetworkPUS1
Atlas of Cancer Signalling NetworkPUS1
Wikipedia pathwaysPUS1
Orthology - Evolution
OrthoDB80324
GeneTree (enSembl)ENSG00000177192
Phylogenetic Trees/Animal Genes : TreeFamPUS1
HOVERGENQ9Y606
HOGENOMQ9Y606
Homologs : HomoloGenePUS1
Homology/Alignments : Family Browser (UCSC)PUS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPUS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PUS1
dbVarPUS1
ClinVarPUS1
1000_GenomesPUS1 
Exome Variant ServerPUS1
ExAC (Exome Aggregation Consortium)PUS1 (select the gene name)
Genetic variants : HAPMAP80324
Genomic Variants (DGV)PUS1 [DGVbeta]
DECIPHERPUS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPUS1 
Mutations
ICGC Data PortalPUS1 
TCGA Data PortalPUS1 
Broad Tumor PortalPUS1
OASIS PortalPUS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPUS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPUS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PUS1
DgiDB (Drug Gene Interaction Database)PUS1
DoCM (Curated mutations)PUS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PUS1 (select a term)
intoGenPUS1
Cancer3DPUS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600462    608109   
Orphanet1213   
MedgenPUS1
Genetic Testing Registry PUS1
NextProtQ9Y606 [Medical]
TSGene80324
GENETestsPUS1
Target ValidationPUS1
Huge Navigator PUS1 [HugePedia]
snp3D : Map Gene to Disease80324
BioCentury BCIQPUS1
ClinGenPUS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80324
Chemical/Pharm GKB GenePA34047
Clinical trialPUS1
Miscellaneous
canSAR (ICR)PUS1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePUS1
EVEXPUS1
GoPubMedPUS1
iHOPPUS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:37:54 CEST 2017

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