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ESPL1 Gene

protein-coding   GIFtS: 63
GCID: GC12P053662

Extra Spindle Pole Bodies Homolog 1 (S. Cerevisiae)

(Previous name: extra spindle poles like 1 (S. cerevisiae))
  Search for ESPL1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Extra Spindle Pole Bodies Homolog 1 (S. Cerevisiae)1 2     separase1
ESP12 3 5     SEPA2
separin1 2     Extra Spindle Poles Like 12
Caspase-Like Protein ESPL12 3     Separin, Cysteine Protease2
Extra Spindle Poles-Like 1 Protein2 3     EC 3.4.22.493
Cysteine Protease1     KIAA01653
Extra Spindle Poles Like 1 (S. Cerevisiae)1     Separase3

External Ids:    HGNC: 168561   Entrez Gene: 97002   Ensembl: ENSG000001354767   OMIM: 6041435   UniProtKB: Q146743   

Export aliases for ESPL1 gene to outside databases

Previous GC identifers: GC12M054021 GC12M053817 GC12P053378 GC12P051948 GC12P050703


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ESPL1 Gene:
Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical
for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct
mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin
complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase,
which initiates the final separation of sister chromatids (Sun et al., 2009 (PubMed 19345191)).(supplied by OMIM,
Nov 2010)

GeneCards Summary for ESPL1 Gene:
ESPL1 (extra spindle pole bodies homolog 1 (S. cerevisiae)) is a protein-coding gene. GO annotations related to this gene include cysteine-type peptidase activity.

UniProtKB/Swiss-Prot: ESPL1_HUMAN, Q14674
Function: Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the
SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is
inactivated by different mechanisms




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ESPL1 gene promoter:
         PPAR-alpha   TBP   PPAR-gamma1   ATF-2   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ESPL1 promoter sequence
   Search Chromatin IP Primers for ESPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ESPL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

ESPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ESPL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P053662:  view genomic region     (about GC identifiers)

Start:
53,662,083 bp from pter      End:
53,687,427 bp from pter
Size:
25,345 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ESPL1_HUMAN, Q14674 (See protein sequence)
Recommended Name: Separin  
Size: 2120 amino acids; 233175 Da
Subunit: Interacts with PTTG1. Interacts with RAD21
Alternative splicing: 2 isoforms:  Q14674-1   Q14674-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ESPL1: NX_Q14674

Explore proteomics data for ESPL1 at MOPED

Post-translational modifications: 

  • Autocleaves. This function, which is not essential for its protease activity, is unknown1
  • Phosphorylated by CDK1. There are 8 Ser/Thr phosphorylation sites. Among them, Ser-1126 phosphorylation is the
    major site, which conducts to the enzyme inactivation1
  • Ubiquitination2 at Lys64, Lys153, Lys755, Lys760, Lys1336, Lys1803, Lys1832, Lys2103
  • Modification sites at PhosphoSitePlus

  • See ESPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036423.4  
    ENSEMBL proteins: 
     ENSP00000456450   ENSP00000447054   ENSP00000449831   ENSP00000257934  
    Reactome Protein details: Q14674

    ESPL1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ESPL1

     
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    Search eBioscience for ELISAs for ESPL1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR005314 Peptidase_C50

    Graphical View of Domain Structure for InterPro Entry Q14674

    ProtoNet protein and cluster: Q14674

    UniProtKB/Swiss-Prot: ESPL1_HUMAN, Q14674
    Similarity: Contains 1 peptidase C50 domain


    Find genes that share domains with ESPL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ESPL1_HUMAN, Q14674
    Function: Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the
    SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is
    inactivated by different mechanisms
    Catalytic activity: All bonds known to be hydrolyzed by this endopeptidase have arginine in P1 and an acidic
    residue in P4. P6 is often occupied by an acidic residue or by a hydroxy-amino-acid residue, the phosphorylation
    of which enhances cleavage
    Enzyme regulation: Regulated by at least two independent mechanisms. First, it is inactivated via its interaction
    with securin/PTTG1, which probably covers its active site. The association with PTTG1 is not only inhibitory,
    since PTTG1 is also required for activating it, the enzyme being inactive in cells in which PTTG1 is absent.
    PTTG1 degradation at anaphase, liberates it and triggers RAD21 cleavage. Second, phosphorylation at Ser-1126
    inactivates it. The complete phosphorylation during mitosis, is removed when cells undergo anaphase. Activation
    of the enzyme at the metaphase-anaphase transition probably requires the removal of both securin and inhibitory
    phosphate

         Enzyme Number (IUBMB): EC 3.4.22.491

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity NAS12672959
    GO:0005515protein binding IPI12194817
    GO:0008233peptidase activity ----
    GO:0008234cysteine-type peptidase activity TAS--
         
    Find genes that share ontologies with ESPL1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for ESPL1:
     Cell division defect  Decreased viability  Increased G2M DNA content, inc  Increased cell number in G2M,  

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Espl1):
     cellular  embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     immune system  liver/biliary system  mortality/aging  nervous system  reproductive system 
     tumorigenesis 

    Find genes that share phenotypes with ESPL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ESPL1: Espl1tm1.2Tno Espl1tm1.2Kna

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ESPL1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ESPL1

    miRNA
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    miRTarBase miRNAs that target ESPL1:
    hsa-let-7d-5p (MIRT032164), hsa-mir-210-3p (MIRT047005), hsa-mir-149-5p (MIRT045591), hsa-mir-615-3p (MIRT039621), hsa-mir-193b-3p (MIRT016597), hsa-mir-10a-5p (MIRT047734), hsa-mir-196a-5p (MIRT026060)

    Block miRNA regulation of human, mouse, rat ESPL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESPL1 (see all 10):
    hsa-miR-3163 hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7g hsa-let-7e hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidESPL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ESPL1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESPL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ESPL1_HUMAN, Q14674: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    plasma membrane3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005813centrosome IDA12672959
    GO:0005829cytosol TAS--

    Find genes that share ontologies with ESPL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ESPL1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    4Oocyte meiosis
    Oocyte meiosis0.35
    5Mitotic Roles of Polo Like Kinases
    Mitotic Roles of Polo Like Kinases


    Find genes that share SuperPaths with ESPL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ESPL1
        Mitotic Roles of Polo Like Kinases

    1 GeneGo (Thomson Reuters) Pathway for ESPL1
        Cell cycle Spindle assembly and chromosome separation

    1 BioSystems Pathway for ESPL1
        Cell cycle

    1 Reactome Pathway for ESPL1
        Separation of Sister Chromatids


    2 Kegg Pathways  (Kegg details for ESPL1):
        Cell cycle
    Oocyte meiosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ESPL1
    Interactions:

        GeneGlobe Interaction Network for ESPL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ESPL1 (Q146743 ENSP000002579344) via UniProtKB, MINT, STRING, and/or I2D (see all 194)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATMQ133153, ENSP000002786164I2D: score=1 STRING: ENSP00000278616
    PTTG1O959973, ENSP000003449364I2D: score=4 STRING: ENSP00000344936
    CCNB1P146353, ENSP000002564424I2D: score=2 STRING: ENSP00000256442
    CKS2P335523I2D: score=2 
    CDK1P064933I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation IMP12672959
    GO:0000212meiotic spindle organization IEA--
    GO:0000278mitotic cell cycle TAS--
    GO:0000910cytokinesis NAS11509732
    GO:0006508proteolysis ----

    Find genes that share ontologies with ESPL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ESPL1

    1 Novoseek inferred chemical compound relationship for ESPL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 27.1 4 12609537 (1), 16357532 (1), 11581162 (1), 16868023 (1)



    Find genes that share compounds with ESPL1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ESPL1 gene: 
    NM_012291.4  

    Unigene Cluster for ESPL1:

    Extra spindle pole bodies homolog 1 (S. cerevisiae)
    Hs.153479  [show with all ESTs]
    Unigene Representative Sequence: NM_012291
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553219 ENST00000552671(uc001scj.2) ENST00000552462 ENST00000550026
    ENST00000535123(uc010soe.1) ENST00000553016 ENST00000549154 ENST00000552600
    ENST00000257934(uc001sck.2)
    miRNA
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    hsa-miR-3163 hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7g hsa-let-7e hsa-let-7b
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    Additional mRNA sequence: 

    AK299423.1 AK316135.1 AY455930.1 BC047603.1 

    5 DOTS entries:

    DT.312912  DT.99960580  DT.92424023  DT.101973720  DT.101964221 

    Selected AceView cDNA sequences (see all 104):

    BG479609 D79987 AA339975 BQ894059 CF137594 BQ958098 BG760762 AY455930 
    BQ052875 AI458447 NM_012291 BM013405 BG469946 BQ881349 BG821987 R21501 
    AI214569 BF683733 BF314077 BC047603 CD359905 AA581005 CF137709 CF135495 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ESPL1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^
    SP1:              -                                                           -                                                                                 
    SP2:                                -                                         -                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 18 ^ 19 ^ 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b
    SP1:              -     -                                                                                                               
    SP2:              -     -                                                                                                               
    SP3:                                                                                                                                    
    SP4:        -     -     -                                                                                                               
    SP5:        -     -     -                                                                                                               


    ECgene alternative splicing isoforms for ESPL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ESPL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCTGTCTT
    ESPL1 Expression
    About this image


    ESPL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Secondary Oocyte Antral Follicle
             Primordial Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    ESPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ESPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.153479
        Custom PCR Arrays for ESPL1
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ESPL1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Espl11 , 5 extra spindle poles-like 1 (S. cerevisiae)5
    extra spindle pole bodies 1 (S. cerevisiae)1
    81.25(n)1
    77.49(a)1
      15 (57.45 cM)5
    1059881  NM_001014976.21  NP_001014976.11 
     1022962935 
    chicken
    (Gallus gallus)
    Aves ESPL11 extra spindle pole bodies homolog 1 (S. cerevisiae) 59.13(n)
    51.05(a)
      425536  XM_423289.4  XP_423289.4 
    lizard
    (Anolis carolinensis)
    Reptilia ESPL16
    extra spindle pole bodies homolog 1 (S. cerevisiae...
    41(a)
    1 ↔ 1
    2(69688166-69774985)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.114532 Xenopus laevis transcribed sequence with weak similarity more 74.16(n)    AW633399.1 
    zebrafish
    (Danio rerio)
    Actinopterygii espl11 extra spindle poles like 1 48.28(n)
    38.61(a)
      797406  XM_001337833.2  XP_001337869.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sse6
    Separase
    20(a)
    1 ↔ 1
    3L(5652800-5655347)
    worm
    (Caenorhabditis elegans)
    Secernentea sep-13   -- 25(a)   I(3433301-3438534)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ESP1(YGR098C)4 Separase, a caspase-like cysteine protease that promotes more   --   7(687458-682566) 852990  NP_011612.1 


    ENSEMBL Gene Tree for ESPL1 (if available)
    TreeFam Gene Tree for ESPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ESPL1 gene

    Find genes that share paralogs with ESPL1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ESPL1
    PGOHUM00000249415


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ESPL1 (see all 710)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79804961,2
    C--53660152(+) aacccA/Ggaggc 1 -- us2k10--------
    rs1457642551,2
    --53660182(+) GATCAC/TGCCAT 1 -- us2k10--------
    rs113668321,2
    C--53660227(+) AAAAA-/AGGCTG 1 -- us2k1 trp31Minor allele frequency- A:0.00NA 2
    rs1926297061,2
    --53660235(+) AAAAAA/CAAAAA 1 -- us2k10--------
    rs1850635631,2
    --53660259(+) ATAGTG/TGCTCA 1 -- us2k10--------
    rs1123282891,2
    C,F--53660266(+) CTCACG/CCCTGT 1 -- us2k12Minor allele frequency- C:0.50CSA 4
    rs1419763551,2
    --53660275(+) GTAATA/TGTAGC 1 -- us2k10--------
    rs73982281,2
    C,F,A,H--53660285(+) cacatC/Tgagag 1 -- us2k114Minor allele frequency- T:0.17NS EA NA WA CSA 783
    rs1171548311,2
    C,F--53660330(+) CAAGAC/TCAACC 1 -- us2k11Minor allele frequency- T:0.07EA 120
    rs1133309721,2
    C,F--53660404(+) ATACGT/CTGGGA 1 -- us2k13Minor allele frequency- C:0.03CSA WA 122

    HapMap Linkage Disequilibrium report for ESPL1 (53662083 - 53687427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ESPL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745905CNV Deletion23290073
    esv2745904CNV Deletion23290073
    nsv52713CNV Insertion16902084
    nsv517066CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604143    OMIM disorders: --


    Find genes that share disorders with ESPL1           About GenesLikeMe

    3 Novoseek inferred disease relationships for ESPL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 0 1 19351757 (1)
    tumors 0 12 19351757 (6), 18728194 (1), 19497291 (1)
    cancer 0 3 19351757 (1), 19497291 (1)

    Genetic Association Database (GAD): ESPL1
    Human Genome Epidemiology (HuGE) Navigator: ESPL1 (3 documents)

    Export disorders for ESPL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ESPL1 gene, integrated from 10 sources (see all 138):
    (articles sorted by number of sources associating them with ESPL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8724849)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1996)
    2. Regulation of human separase by securin binding and autocleavage. (PubMed id 12194817)1, 2, 9 Waizenegger I.... Peters J.-M. (Curr. Biol. 2002)
    3. Anaphase specific auto-cleavage of separase. (PubMed id 12297314)1, 2, 9 Zou H.... Kirschner M.W. (FEBS Lett. 2002)
    4. Dual inhibition of sister chromatid separation at metaphase. (PubMed id 11747808)1, 2, 9 Stemmann O.... Kirschner M.W. (Cell 2001)
    5. Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. (PubMed id 11509732)1, 2, 9 Hauf S.... Peters J.-M. (Science 2001)
    6. Single nucleotide polymorphisms in chromosomal instability genes and risk and clinical outcome of breast cancer: a Swedish prospective case-control study. (PubMed id 19008095)1, 4, 9 Brendle A....FAPrsti A. (Eur. J. Cancer 2009)
    7. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)
    8. BRCA1 regulates gene expression for orderly mitotic progression. (PubMed id 16258266)1, 3 Bae I....Rosen E.M. (Cell Cycle 2005)
    9. Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis. (PubMed id 10411507)1, 2 Zou H.... Kirschner M.W. (Science 1999)
    10. Protein phosphatase 2A and separase form a complex regulated by separase autocleavage. (PubMed id 17604273)1, 9 Holland A.J....Taylor S.S. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9700 HGNC: 16856 AceView: ESPL1 Ensembl:ENSG00000135476 euGenes: HUgn9700
    ECgene: ESPL1 Kegg: 9700 H-InvDB: ESPL1

    (According to HUGE)
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    HUGE: KIAA0165

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ESPL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ESPL1 gene:
    Search GeneIP for patents involving ESPL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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