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    ESPL1 extra spindle pole bodies like 1, separase [ Homo sapiens (human) ]

    Gene ID: 9700, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ESPL1provided by HGNC
    Official Full Name
    extra spindle pole bodies like 1, separaseprovided by HGNC
    Primary source
    HGNC:HGNC:16856
    See related
    Ensembl:ENSG00000135476 MIM:604143; AllianceGenome:HGNC:16856
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ESP1; SEPA
    Summary
    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]
    Expression
    Biased expression in esophagus (RPKM 7.6), testis (RPKM 5.7) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ESPL1 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53268299..53293638)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53233854..53259351)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53662083..53687422)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53635595-53636507 Neighboring gene uncharacterized LOC122455340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53645725-53646396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6406 Neighboring gene major facilitator superfamily domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670028-53670528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670529-53671029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53684247-53684748 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:53689034-53690233 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:53692451-53693650 Neighboring gene prefoldin subunit 5 Neighboring gene MYG1 exonuclease

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Upregulation of ESPL1 is associated with poor prognostic outcomes in endometrial cancer. Yang Y, et al. Biomarkers, 2024 Jun. PMID 38568742
    2. Effect of separase depletion on ionizing radiation-induced cell cycle checkpoints and survival in human lung cancer cell lines. Sak A, et al. Cell Prolif, 2008 Aug. PMID 18616699, Free PMC Article
    3. Separase is recruited to mitotic chromosomes to dissolve sister chromatid cohesion in a DNA-dependent manner. Sun Y, et al. Cell, 2009 Apr 3. PMID 19345191, Free PMC Article
    4. Separase activity distribution can be a marker of major molecular response and proliferation of CD34(+) cells in TKI-treated chronic myeloid leukemia patients. Spiess B, et al. Ann Hematol, 2020 May. PMID 32253454, Free PMC Article
    5. Separase-triggered apoptosis enforces minimal length of mitosis. Hellmuth S, et al. Nature, 2020 Apr. PMID 32322059

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Upregulation of ESPL1 is associated with poor prognostic outcomes in endometrial cancer.
      Title: Upregulation of ESPL1 is associated with poor prognostic outcomes in endometrial cancer.
    2. The molecular mechanisms of human separase regulation.
      Title: The molecular mechanisms of human separase regulation.
    3. [Separase, a key-player of mitosis: A new target for cancer therapy?]", trans "La separase, proteine-cle de la mitose - Une nouvelle cible therapeutique anti-cancereuse ?
      Title: [Separase, a key-player of mitosis: A new target for cancer therapy?].
    4. Serum ESPL1 Can Be Used as a Biomarker for Patients With Hepatitis B Virus-Related Liver Cancer: A Chinese Case-Control Study.
      Title: Serum ESPL1 Can Be Used as a Biomarker for Patients With Hepatitis B Virus-Related Liver Cancer: A Chinese Case-Control Study.
    5. Structural basis of human separase regulation by securin and CDK1-cyclin B1.
      Title: Structural basis of human separase regulation by securin and CDK1-cyclin B1.
    6. Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.
      Title: Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.
    7. TTK, CDC25A, and ESPL1 as Prognostic Biomarkers for Endometrial Cancer.
      Title: TTK, CDC25A, and ESPL1 as Prognostic Biomarkers for Endometrial Cancer.
    8. results identify an unexpected function of SGO2 in mitotically dividing cells and a mechanism of separase regulation that is independent of securin but still supervised by the spindle assembly checkpoint
      Title: Securin-independent regulation of separase by checkpoint-induced shugoshin-MAD2.
    9. human cells that enter mitosis with already active separase rapidly undergo death in mitosis owing to direct cleavage of anti-apoptotic MCL1 and BCL-XL by separase; separase-triggered apoptosis enforces minimal length of mitosis
      Title: Separase-triggered apoptosis enforces minimal length of mitosis.
    10. data suggests an association between high separase activity, residual BCR-ABL1 gene expression, and enhanced proliferative capacity in hematopoietic cells within the leukemic niche of TKI-treated chronic phase CML.
      Title: Separase activity distribution can be a marker of major molecular response and proliferation of CD34(+) cells in TKI-treated chronic myeloid leukemia patients.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46492, KIAA0165

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables catalytic activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type peptidase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables cysteine-type peptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in establishment of mitotic spindle localization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in homologous chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic chromosome separation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic spindle organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic cytokinesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic sister chromatid segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic sister chromatid separation TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of sister chromatid cohesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of mitotic metaphase/anaphase transition NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    separin
    Names
    caspase-like protein ESPL1
    extra spindle pole bodies 1, separase
    extra spindle pole bodies homolog 1
    extra spindle poles like 1
    extra spindle poles-like 1 protein
    separin, cysteine protease
    NP_036423.4
    XP_006719768.1
    XP_011537326.1
    XP_016875742.1
    XP_047285871.1
    XP_054229865.1
    XP_054229866.1
    XP_054229867.1
    XP_054229868.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_012291.5 → NP_036423.4  separin

      See identical proteins and their annotated locations for NP_036423.4

      Status: VALIDATED

      Source sequence(s)
      AC021072, AC073611
      Consensus CDS
      CCDS8852.1
      UniProtKB/Swiss-Prot
      Q14674
      Related
      ENSP00000257934.4, ENST00000257934.9
      Conserved Domains (1) summary
      pfam03568
      Location:1721 → 2069
      Peptidase_C50; Peptidase family C50

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53268299..53293638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719705.4 → XP_006719768.1  separin isoform X1

      See identical proteins and their annotated locations for XP_006719768.1

      UniProtKB/Swiss-Prot
      Q14674
      Conserved Domains (1) summary
      pfam03568
      Location:1721 → 2069
      Peptidase_C50; Peptidase family C50

    2. XM_047429915.1 → XP_047285871.1  separin isoform X3

    3. XM_011539024.3 → XP_011537326.1  separin isoform X1

      See identical proteins and their annotated locations for XP_011537326.1

      UniProtKB/Swiss-Prot
      Q14674
      Conserved Domains (1) summary
      pfam03568
      Location:1721 → 2069
      Peptidase_C50; Peptidase family C50

    4. XM_017020253.2 → XP_016875742.1  separin isoform X2

      UniProtKB/Swiss-Prot
      Q14674

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791795.1 Reference GRCh38.p14 PATCHES

      Range
      375..17398
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53233854..53259351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373890.1 → XP_054229865.1  separin isoform X1

    2. XM_054373893.1 → XP_054229868.1  separin isoform X3

    3. XM_054373891.1 → XP_054229866.1  separin isoform X1

    4. XM_054373892.1 → XP_054229867.1  separin isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14674.3 GenPept UniProtKB/Swiss-Prot:Q14674

    Gene LinkOut

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