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ESPL1 (extra spindle pole bodies like 1, separase)

Identity

Alias_namesextra spindle poles like 1 (S. cerevisiae)
extra spindle pole bodies homolog 1 (S. cerevisiae)
Alias_symbol (synonym)KIAA0165
ESP1
SEPA
Other alias
HGNC (Hugo) ESPL1
LocusID (NCBI) 9700
Atlas_Id 43249
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 53268299 and ends at 53293643 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)
FAM118A (22q13.31) / ESPL1 (12q13.13)

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)ESPL1   16856
Cards
Entrez_Gene (NCBI)ESPL1  9700  extra spindle pole bodies like 1, separase
AliasesESP1; SEPA
GeneCards (Weizmann)ESPL1
Ensembl hg19 (Hinxton)ENSG00000135476 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135476 [Gene_View]  ENSG00000135476 [Sequence]  chr12:53268299-53293643 [Contig_View]  ESPL1 [Vega]
ICGC DataPortalENSG00000135476
TCGA cBioPortalESPL1
AceView (NCBI)ESPL1
Genatlas (Paris)ESPL1
WikiGenes9700
SOURCE (Princeton)ESPL1
Genetics Home Reference (NIH)ESPL1
Genomic and cartography
GoldenPath hg38 (UCSC)ESPL1  -     chr12:53268299-53293643 +  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESPL1  -     12q13.13   [Description]    (hg19-Feb_2009)
GoldenPathESPL1 - 12q13.13 [CytoView hg19]  ESPL1 - 12q13.13 [CytoView hg38]
ImmunoBaseENSG00000135476
Mapping of homologs : NCBIESPL1 [Mapview hg19]  ESPL1 [Mapview hg38]
OMIM604143   
Gene and transcription
Genbank (Entrez)AI458447 AK128350 AK299423 AK316135 AW009863
RefSeq transcript (Entrez)NM_012291
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESPL1
Cluster EST : UnigeneHs.153479 [ NCBI ]
CGAP (NCI)Hs.153479
Alternative Splicing GalleryENSG00000135476
Gene ExpressionESPL1 [ NCBI-GEO ]   ESPL1 [ EBI - ARRAY_EXPRESS ]   ESPL1 [ SEEK ]   ESPL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESPL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9700
GTEX Portal (Tissue expression)ESPL1
Human Protein AtlasENSG00000135476-ESPL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14674   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14674  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14674
Splice isoforms : SwissVarQ14674
Catalytic activity : Enzyme3.4.22.49 [ Enzyme-Expasy ]   3.4.22.493.4.22.49 [ IntEnz-EBI ]   3.4.22.49 [ BRENDA ]   3.4.22.49 [ KEGG ]   
PhosPhoSitePlusQ14674
Domaine pattern : Prosite (Expaxy)SEPARIN (PS51700)   
Domains : Interpro (EBI)Peptidase_C50    SEPARIN_core_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ESPL1
DMDM Disease mutations9700
Blocks (Seattle)ESPL1
SuperfamilyQ14674
Human Protein Atlas [tissue]ENSG00000135476-ESPL1 [tissue]
Peptide AtlasQ14674
HPRD06825
IPIIPI00397474   IPI00017538   
Protein Interaction databases
DIP (DOE-UCLA)Q14674
IntAct (EBI)Q14674
FunCoupENSG00000135476
BioGRIDESPL1
STRING (EMBL)ESPL1
ZODIACESPL1
Ontologies - Pathways
QuickGOQ14674
Ontology : AmiGOmitotic sister chromatid segregation  meiotic spindle organization  mitotic cytokinesis  catalytic activity  cysteine-type endopeptidase activity  protein binding  nucleus  cytoplasm  centrosome  centrosome  cytosol  proteolysis  apoptotic process  cysteine-type peptidase activity  cysteine-type peptidase activity  establishment of mitotic spindle localization  homologous chromosome segregation  positive regulation of mitotic metaphase/anaphase transition  negative regulation of sister chromatid cohesion  meiotic chromosome separation  mitotic spindle  
Ontology : EGO-EBImitotic sister chromatid segregation  meiotic spindle organization  mitotic cytokinesis  catalytic activity  cysteine-type endopeptidase activity  protein binding  nucleus  cytoplasm  centrosome  centrosome  cytosol  proteolysis  apoptotic process  cysteine-type peptidase activity  cysteine-type peptidase activity  establishment of mitotic spindle localization  homologous chromosome segregation  positive regulation of mitotic metaphase/anaphase transition  negative regulation of sister chromatid cohesion  meiotic chromosome separation  mitotic spindle  
Pathways : KEGGCell cycle    Oocyte meiosis   
NDEx NetworkESPL1
Atlas of Cancer Signalling NetworkESPL1
Wikipedia pathwaysESPL1
Orthology - Evolution
OrthoDB9700
GeneTree (enSembl)ENSG00000135476
Phylogenetic Trees/Animal Genes : TreeFamESPL1
HOGENOMQ14674
Homologs : HomoloGeneESPL1
Homology/Alignments : Family Browser (UCSC)ESPL1
Gene fusions - Rearrangements
Fusion : QuiverESPL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESPL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESPL1
dbVarESPL1
ClinVarESPL1
1000_GenomesESPL1 
Exome Variant ServerESPL1
ExAC (Exome Aggregation Consortium)ENSG00000135476
GNOMAD BrowserENSG00000135476
Varsome BrowserESPL1
Genetic variants : HAPMAP9700
Genomic Variants (DGV)ESPL1 [DGVbeta]
DECIPHERESPL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESPL1 
Mutations
ICGC Data PortalESPL1 
TCGA Data PortalESPL1 
Broad Tumor PortalESPL1
OASIS PortalESPL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESPL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DESPL1
Mutations and Diseases : HGMDESPL1
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 ESPL1
DgiDB (Drug Gene Interaction Database)ESPL1
DoCM (Curated mutations)ESPL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESPL1 (select a term)
intoGenESPL1
Cancer3DESPL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604143   
Orphanet
DisGeNETESPL1
MedgenESPL1
Genetic Testing Registry ESPL1
NextProtQ14674 [Medical]
TSGene9700
GENETestsESPL1
Target ValidationESPL1
Huge Navigator ESPL1 [HugePedia]
snp3D : Map Gene to Disease9700
BioCentury BCIQESPL1
ClinGenESPL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9700
Chemical/Pharm GKB GenePA27884
Clinical trialESPL1
Miscellaneous
canSAR (ICR)ESPL1 (select the gene name)
DataMed IndexESPL1
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESPL1
EVEXESPL1
GoPubMedESPL1
iHOPESPL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:42:23 CET 2019
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