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

Summary

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

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_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Chm206 (e-PCR)
- UniSTS:518213

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Espl1 (e-PCR), detects polymorphism
- UniSTS:546763

RH125481 (e-PCR)
- UniSTS:162300

AU045071 (e-PCR)
- UniSTS:160511

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

EC 3.4.22.49

NP_001343241.1

EC 3.4.22.49

XP_006520321.1

EC 3.4.22.49

XP_006520322.1

EC 3.4.22.49

XP_036014955.1

EC 3.4.22.49

XP_036014956.1

EC 3.4.22.49

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)

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
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

NC_000081.7 Reference GRCm39 C57BL/6J

Range

102204688..102232792

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
XM_036159063.1 → XP_036014956.1 separin isoform X2

Conserved Domains (1) summary

pfam03568
Location:1179 → 1526

Peptidase_C50; Peptidase family C50