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Espl1 extra spindle pole bodies 1, separase [ Mus musculus (house mouse) ]

Gene ID: 105988, updated on 11-Apr-2024

Summary

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Official Symbol
Espl1provided by MGI
Official Full Name
extra spindle pole bodies 1, separaseprovided by MGI
Primary source
MGI:MGI:2146156
See related
Ensembl:ENSMUSG00000058290 AllianceGenome:MGI:2146156
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
SSE; Cerp; ESP1; PRCE
Summary
Enables cysteine-type peptidase activity. Acts upstream of or within homologous chromosome segregation; meiotic spindle organization; and mitotic sister chromatid segregation. Predicted to be active in cytoplasm; microtubule cytoskeleton; and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and respiratory system. Used to study breast cancer. Orthologous to human ESPL1 (extra spindle pole bodies like 1, separase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thymus adult (RPKM 11.7), testis adult (RPKM 11.0) and 19 other tissues See more
Orthologs
human all
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Genomic context

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See Espl1 in Genome Data Viewer
Location:
15 F2; 15 57.45 cM
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (102204688..102232792)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (102296254..102324357)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene 9918 Neighboring gene STARR-seq mESC enhancer starr_39829 Neighboring gene major facilitator superfamily domain containing 5 Neighboring gene STARR-positive B cell enhancer ABC_E5520 Neighboring gene STARR-positive B cell enhancer ABC_E7421 Neighboring gene STARR-positive B cell enhancer ABC_E7422 Neighboring gene microRNA 12187 Neighboring gene prefoldin 5 Neighboring gene melanocyte proliferating gene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. MMTV-Espl1 transgenic mice develop aneuploid, estrogen receptor alpha (ERα)-positive mammary adenocarcinomas. Mukherjee M, et al. Oncogene, 2014 Nov 27. PMID 24276237, Free PMC Article
  2. Cyclin A1 in Oocytes Prevents Chromosome Segregation And Anaphase Entry. Radonova L, et al. Sci Rep, 2020 May 4. PMID 32366979, Free PMC Article
  3. Local activation of mammalian separase in interphase promotes double-strand break repair and prevents oncogenic transformation. Hellmuth S, et al. EMBO J, 2018 Nov 15. PMID 30305303, Free PMC Article
  4. Cyclin A2 is required for sister chromatid segregation, but not separase control, in mouse oocyte meiosis. Touati SA, et al. Cell Rep, 2012 Nov 29. PMID 23122964
  5. Age-dependent susceptibility of chromosome cohesion to premature separase activation in mouse oocytes. Chiang T, et al. Biol Reprod, 2011 Dec. PMID 21865557, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MicroRNA-202 safeguards meiotic progression by preventing premature SEPARASE-mediated REC8 cleavage.
    Title: MicroRNA-202 safeguards meiotic progression by preventing premature SEPARASE-mediated REC8 cleavage.
  2. results indicate that cyclin B2/CDK1 is also responsible for separase inhibition via inhibitory phosphorylation to regulate chromosome separation in oocyte meiosis, which may not occur in other cell types.
    Title: The cyclin B2/CDK1 complex inhibits separase activity in mouse oocyte meiosis I.
  3. 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.
  4. Degradation of the Separase-cleaved Rec8, a Meiotic Cohesin Subunit, by the N-end Rule Pathway.
    Title: Degradation of the Separase-cleaved Rec8, a Meiotic Cohesin Subunit, by the N-end Rule Pathway.
  5. Separase-overexpressing mammary cells are not only susceptible to chromosomal missegregation-induced aneuploidy but also other genetic instabilities
    Title: MMTV-Espl1 transgenic mice develop aneuploid, estrogen receptor alpha (ERα)-positive mammary adenocarcinomas.
  6. With the continual loss of cohesins from chromosomes that occurs throughout the natural reproductive lifespan, tight regulation of separase in oocytes may be particularly important to maintain cohesion and prevent aneuploidy.
    Title: Age-dependent susceptibility of chromosome cohesion to premature separase activation in mouse oocytes.
  7. Separase act synergistically with loss of p53 in the initiation and progression of B- and T- cell lymphomas
    Title: Separase loss of function cooperates with the loss of p53 in the initiation and progression of T- and B-cell lymphoma, leukemia and aneuploidy in mice.
  8. Separase phospho-regulation is critical for genome stability in oogenesis.
    Title: Separase phosphosite mutation leads to genome instability and primordial germ cell depletion during oogenesis.
  9. deregulation of separase may be a significant contributor to infertility in humans.
    Title: Preimplantation mouse embryos depend on inhibitory phosphorylation of separase to prevent chromosome missegregation.
  10. Results describe a new function for the TGF-beta pathway in the regulation of APC to mediate chromatid separation during mitosis.
    Title: Regulation of the anaphase-promoting complex-separase cascade by transforming growth factor-beta modulates mitotic progression in bone marrow stromal cells.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

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

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within chromosome segregation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within homologous chromosome segregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within meiosis I IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in meiotic chromosome separation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within meiotic spindle organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within mitotic cell cycle IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within mitotic sister chromatid segregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic sister chromatid segregation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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
Cut1/ESP1 related protein
caspase-like protein ESPL1
extra spindle poles-like 1 protein
separase
NP_001014976.1
NP_001343241.1
XP_006520321.1
XP_006520322.1
XP_036014955.1
XP_036014956.1

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_001014976.2 → NP_001014976.1  separin

    See identical proteins and their annotated locations for NP_001014976.1

    Status: VALIDATED

    Source sequence(s)
    AC163291
    Consensus CDS
    CCDS27878.1
    UniProtKB/Swiss-Prot
    A6H6E3, P60330
    UniProtKB/TrEMBL
    A6H6E1
    Related
    ENSMUSP00000064465.5, ENSMUST00000064924.6
    Conserved Domains (1) summary
    pfam03568
    Location:1718 → 2065
    Peptidase_C50; Peptidase family C50

  2. NM_001356312.1 → NP_001343241.1  separin

    Status: VALIDATED

    Source sequence(s)
    AC163291
    Consensus CDS
    CCDS27878.1
    UniProtKB/Swiss-Prot
    A6H6E3, P60330
    UniProtKB/TrEMBL
    A6H6E1
    Related
    ENSMUSP00000155304.2, ENSMUST00000229050.2
    Conserved Domains (1) summary
    pfam03568
    Location:1718 → 2065
    Peptidase_C50; Peptidase family C50

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    102204688..102232792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006520258.5 → XP_006520321.1  separin isoform X1

    See identical proteins and their annotated locations for XP_006520321.1

    UniProtKB/Swiss-Prot
    A6H6E3, P60330
    UniProtKB/TrEMBL
    A6H6E1
    Conserved Domains (1) summary
    pfam03568
    Location:1718 → 2065
    Peptidase_C50; Peptidase family C50

  2. XM_036159062.1 → XP_036014955.1  separin isoform X1

    UniProtKB/Swiss-Prot
    A6H6E3, P60330
    UniProtKB/TrEMBL
    A6H6E1
    Conserved Domains (1) summary
    pfam03568
    Location:1718 → 2065
    Peptidase_C50; Peptidase family C50

  3. XM_006520259.5 → XP_006520322.1  separin isoform X1

    See identical proteins and their annotated locations for XP_006520322.1

    UniProtKB/Swiss-Prot
    A6H6E3, P60330
    UniProtKB/TrEMBL
    A6H6E1
    Conserved Domains (1) summary
    pfam03568
    Location:1718 → 2065
    Peptidase_C50; Peptidase family C50

  4. XM_036159063.1 → XP_036014956.1  separin isoform X2

    Conserved Domains (1) summary
    pfam03568
    Location:1179 → 1526
    Peptidase_C50; Peptidase family C50
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P60330.1 GenPept UniProtKB/Swiss-Prot:P60330

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