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

Gene ID: 9700, updated on 9-Apr-2023

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
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53268299..53293638)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53233854..53259351)
105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53645725-53646396 Neighboring gene major facilitator superfamily domain containing 5 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. [Separase, a key-player of mitosis: A new target for cancer therapy?]. Aouadi E, et al. Med Sci (Paris), 2021 Jun-Jul. PMID 34180834
  2. Serum ESPL1 Can Be Used as a Biomarker for Patients With Hepatitis B Virus-Related Liver Cancer: A Chinese Case-Control Study. Wang R, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 33308056, Free PMC Article
  3. Separase-triggered apoptosis enforces minimal length of mitosis. Hellmuth S, et al. Nature, 2020 Apr. PMID 32322059
  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. Increased separase activity and occurrence of centrosome aberrations concur with transformation of MDS. Ruppenthal S, et al. PLoS One, 2018. PMID 29370237, Free PMC Article

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [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?].
  2. 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.
  3. 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.
  4. 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.
  5. TTK, CDC25A, and ESPL1 as Prognostic Biomarkers for Endometrial Cancer.
    Title: TTK, CDC25A, and ESPL1 as Prognostic Biomarkers for Endometrial Cancer.
  6. 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.
  7. 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.
  8. 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.
  9. LPE motif on the Scc1 substrate is required for rapid and specific cleavage by separase.
    Title: Cohesin cleavage by separase is enhanced by a substrate motif distinct from the cleavage site.
  10. Thus, tethering of separase to DSBs and confined cohesin cleavage promote DSB repair in G2 cells. Importantly, this conserved interphase function of separase protects mammalian cells from oncogenic transformation.
    Title: Local activation of mammalian separase in interphase promotes double-strand break repair and prevents oncogenic transformation.
Submit: New GeneRIF Correction See all GeneRIFs (42)

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)

Genotypes

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
 PubMed 
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
 PubMed 
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 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
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

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_2023_03

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

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