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PES1 (pescadillo ribosomal biogenesis factor 1)

Identity

Alias_namespescadillo (zebrafish) homolog 1, containing BRCT domain
pescadillo homolog 1, containing BRCT domain (zebrafish)
Alias_symbol (synonym)PES
Other alias
HGNC (Hugo) PES1
LocusID (NCBI) 23481
Atlas_Id 41692
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 30576625 and ends at 30591940 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCAM (19q13.32) / PES1 (22q12.2)

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)PES1   8848
Cards
Entrez_Gene (NCBI)PES1  23481  pescadillo ribosomal biogenesis factor 1
AliasesPES
GeneCards (Weizmann)PES1
Ensembl hg19 (Hinxton)ENSG00000100029 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100029 [Gene_View]  chr22:30576625-30591940 [Contig_View]  PES1 [Vega]
ICGC DataPortalENSG00000100029
TCGA cBioPortalPES1
AceView (NCBI)PES1
Genatlas (Paris)PES1
WikiGenes23481
SOURCE (Princeton)PES1
Genetics Home Reference (NIH)PES1
Genomic and cartography
GoldenPath hg38 (UCSC)PES1  -     chr22:30576625-30591940 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PES1  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblPES1 - 22q12.2 [CytoView hg19]  PES1 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBIPES1 [Mapview hg19]  PES1 [Mapview hg38]
OMIM605819   
Gene and transcription
Genbank (Entrez)AB451380 AK096320 AK125778 AK127185 AK315518
RefSeq transcript (Entrez)NM_001243225 NM_001282327 NM_001282328 NM_014303
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PES1
Cluster EST : UnigeneHs.517543 [ NCBI ]
CGAP (NCI)Hs.517543
Alternative Splicing GalleryENSG00000100029
Gene ExpressionPES1 [ NCBI-GEO ]   PES1 [ EBI - ARRAY_EXPRESS ]   PES1 [ SEEK ]   PES1 [ MEM ]
Gene Expression Viewer (FireBrowse)PES1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23481
GTEX Portal (Tissue expression)PES1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00541   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00541  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00541
Splice isoforms : SwissVarO00541
PhosPhoSitePlusO00541
Domaine pattern : Prosite (Expaxy)BRCT (PS50172)   
Domains : Interpro (EBI)BRCT_dom    PES   
Domain families : Pfam (Sanger)BRCT_2 (PF16589)    Pescadillo_N (PF06732)   
Domain families : Pfam (NCBI)pfam16589    pfam06732   
Domain families : Smart (EMBL)BRCT (SM00292)  
Conserved Domain (NCBI)PES1
DMDM Disease mutations23481
Blocks (Seattle)PES1
PDB (SRS)2EP8   
PDB (PDBSum)2EP8   
PDB (IMB)2EP8   
PDB (RSDB)2EP8   
Structural Biology KnowledgeBase2EP8   
SCOP (Structural Classification of Proteins)2EP8   
CATH (Classification of proteins structures)2EP8   
SuperfamilyO00541
Human Protein AtlasENSG00000100029
Peptide AtlasO00541
HPRD05783
IPIIPI00003768   IPI00554461   IPI00854683   IPI00878536   IPI00879039   IPI00879235   IPI00879274   
Protein Interaction databases
DIP (DOE-UCLA)O00541
IntAct (EBI)O00541
FunCoupENSG00000100029
BioGRIDPES1
STRING (EMBL)PES1
ZODIACPES1
Ontologies - Pathways
QuickGOO00541
Ontology : AmiGOmaturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  condensed chromosome  RNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  rRNA processing  rRNA processing  nucleolus organization  cell proliferation  cell proliferation  membrane  preribosome, large subunit precursor  protein localization to organelle  ribosomal large subunit biogenesis  regulation of cell cycle  PeBoW complex  
Ontology : EGO-EBImaturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  condensed chromosome  RNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  rRNA processing  rRNA processing  nucleolus organization  cell proliferation  cell proliferation  membrane  preribosome, large subunit precursor  protein localization to organelle  ribosomal large subunit biogenesis  regulation of cell cycle  PeBoW complex  
NDEx NetworkPES1
Atlas of Cancer Signalling NetworkPES1
Wikipedia pathwaysPES1
Orthology - Evolution
OrthoDB23481
GeneTree (enSembl)ENSG00000100029
Phylogenetic Trees/Animal Genes : TreeFamPES1
HOVERGENO00541
HOGENOMO00541
Homologs : HomoloGenePES1
Homology/Alignments : Family Browser (UCSC)PES1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPES1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PES1
dbVarPES1
ClinVarPES1
1000_GenomesPES1 
Exome Variant ServerPES1
ExAC (Exome Aggregation Consortium)PES1 (select the gene name)
Genetic variants : HAPMAP23481
Genomic Variants (DGV)PES1 [DGVbeta]
DECIPHERPES1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPES1 
Mutations
ICGC Data PortalPES1 
TCGA Data PortalPES1 
Broad Tumor PortalPES1
OASIS PortalPES1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPES1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPES1
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
BioMutasearch PES1
DgiDB (Drug Gene Interaction Database)PES1
DoCM (Curated mutations)PES1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PES1 (select a term)
intoGenPES1
Cancer3DPES1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605819   
Orphanet
MedgenPES1
Genetic Testing Registry PES1
NextProtO00541 [Medical]
TSGene23481
GENETestsPES1
Target ValidationPES1
Huge Navigator PES1 [HugePedia]
snp3D : Map Gene to Disease23481
BioCentury BCIQPES1
ClinGenPES1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23481
Chemical/Pharm GKB GenePA33190
Clinical trialPES1
Miscellaneous
canSAR (ICR)PES1 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePES1
EVEXPES1
GoPubMedPES1
iHOPPES1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:49:07 CEST 2017

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