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Aliases for ESPL1 Gene

Aliases for ESPL1 Gene

  • Extra Spindle Pole Bodies Homolog 1 (S. Cerevisiae) 2 3
  • Separin 2 2 3
  • ESP1 3 4 6
  • Extra Spindle Poles-Like 1 Protein 3 4
  • Caspase-Like Protein ESPL1 3 4
  • Separase 2 4
  • Extra Spindle Poles Like 1 (S. Cerevisiae) 2
  • Extra Spindle Poles Like 1 3
  • Separin, Cysteine Protease 3
  • Cysteine Protease 2
  • EC 3.4.22.49 4
  • KIAA0165 4
  • SEPA 3

External Ids for ESPL1 Gene

Previous GeneCards Identifiers for ESPL1 Gene

  • GC12M054021
  • GC12M053817
  • GC12P053378
  • GC12P051948
  • GC12P053662
  • GC12P050703

Summaries for ESPL1 Gene

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. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include cysteine-type peptidase activity.

UniProtKB/Swiss-Prot for ESPL1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESPL1 Gene

Genomics for ESPL1 Gene

Regulatory Elements for ESPL1 Gene

Genomic Location for ESPL1 Gene

Start:
53,268,293 bp from pter
End:
53,293,643 bp from pter
Size:
25,351 bases
Orientation:
Plus strand

Genomic View for ESPL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ESPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESPL1 Gene

Proteins for ESPL1 Gene

  • Protein details for ESPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14674-ESPL1_HUMAN
    Recommended name:
    Separin
    Protein Accession:
    Q14674
    Secondary Accessions:

    Protein attributes for ESPL1 Gene

    Size:
    2120 amino acids
    Molecular mass:
    233175 Da
    Quaternary structure:
    • Interacts with PTTG1. Interacts with RAD21.

    Alternative splice isoforms for ESPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESPL1 Gene

Proteomics data for ESPL1 Gene at MOPED

Post-translational modifications for ESPL1 Gene

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

Other Protein References for ESPL1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ESPL1 Gene

Domains for ESPL1 Gene

Protein Domains for ESPL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ESPL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14674

UniProtKB/Swiss-Prot:

ESPL1_HUMAN :
  • Q14674
Domain:
  • Contains 1 peptidase C50 domain.
genes like me logo Genes that share domains with ESPL1: view

No data available for Gene Families for ESPL1 Gene

Function for ESPL1 Gene

Molecular function for ESPL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: 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
UniProtKB/Swiss-Prot EnzymeRegulation: 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ESPL1 Gene

Gene Ontology (GO) - Molecular Function for ESPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity NAS 12672959
GO:0004197 cysteine-type endopeptidase activity IBA --
GO:0005515 protein binding IPI 12194817
GO:0008233 peptidase activity --
GO:0008234 cysteine-type peptidase activity TAS --
genes like me logo Genes that share ontologies with ESPL1: view
genes like me logo Genes that share phenotypes with ESPL1: view

Animal Models for ESPL1 Gene

MGI Knock Outs for ESPL1:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targeting and HOMER Transcription for ESPL1 Gene

Localization for ESPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESPL1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESPL1 Gene COMPARTMENTS Subcellular localization image for ESPL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for ESPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0005813 centrosome IDA 12672959
GO:0005829 cytosol TAS --
GO:0072686 mitotic spindle IBA --
genes like me logo Genes that share ontologies with ESPL1: view

Pathways for ESPL1 Gene

genes like me logo Genes that share pathways with ESPL1: view

Pathways by source for ESPL1 Gene

1 Qiagen pathway for ESPL1 Gene
1 BioSystems pathway for ESPL1 Gene
2 KEGG pathways for ESPL1 Gene
1 GeneGo (Thomson Reuters) pathway for ESPL1 Gene

Gene Ontology (GO) - Biological Process for ESPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IMP 12672959
GO:0000212 meiotic spindle organization IEA --
GO:0000278 mitotic cell cycle TAS --
GO:0000910 cytokinesis NAS 11509732
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ESPL1: view

Compounds for ESPL1 Gene

(1) Novoseek inferred chemical compound relationships for ESPL1 Gene

Compound -log(P) Hits PubMed IDs
cysteine 27.1 4
genes like me logo Genes that share compounds with ESPL1: view

Transcripts for ESPL1 Gene

Unigene Clusters for ESPL1 Gene

Extra spindle pole bodies homolog 1 (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ESPL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ESPL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESPL1 Gene

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:
SP6:
SP7:
SP8: - -
SP9: -
SP10:

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: - - -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ESPL1 Gene

GeneLoc Exon Structure for
ESPL1
ECgene alternative splicing isoforms for
ESPL1

Expression for ESPL1 Gene

mRNA expression in normal human tissues for ESPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ESPL1 Gene

This gene is overexpressed in Esophagus - Mucosa (16.1), Vagina (4.6), and Testis (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ESPL1 Gene

SOURCE GeneReport for Unigene cluster for ESPL1 Gene Hs.153479

genes like me logo Genes that share expressions with ESPL1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ESPL1 Gene

Orthologs for ESPL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ESPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESPL1 35
  • 99.38 (n)
  • 99.31 (a)
ESPL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESPL1 35
  • 87.14 (n)
  • 84.6 (a)
ESPL1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESPL1 35
  • 85.69 (n)
  • 82.92 (a)
ESPL1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Espl1 35
  • 81.25 (n)
  • 77.49 (a)
Espl1 16
Espl1 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESPL1 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESPL1 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Espl1 35
  • 81.19 (n)
  • 78.26 (a)
chicken
(Gallus gallus)
Aves ESPL1 35
  • 59.13 (n)
  • 51.05 (a)
ESPL1 36
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESPL1 36
  • 41 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11453 35
tropical clawed frog
(Silurana tropicalis)
Amphibia espl1 35
  • 52.27 (n)
  • 44.95 (a)
Str.4227 35
zebrafish
(Danio rerio)
Actinopterygii espl1 35
  • 48.28 (n)
  • 38.61 (a)
espl1 36
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sse 36
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sep-1 36
  • 17 (a)
OneToMany
ZK430.5 36
  • 17 (a)
OneToMany
sep-1 37
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESP1 36
  • 19 (a)
OneToOne
ESP1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for ESPL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ESPL1 Gene

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

Paralogs for ESPL1 Gene

Pseudogenes.org Pseudogenes for ESPL1 Gene

genes like me logo Genes that share paralogs with ESPL1: view

No data available for Paralogs for ESPL1 Gene

Variants for ESPL1 Gene

Sequence variations from dbSNP and Humsavar for ESPL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1056685 -- 53,292,919(+) TGTGC(A/G)TGGAA missense, reference
rs1064218 -- 53,286,187(+) CGCTC(A/C/G/T)ACGCC frameshift-variant, reference
rs1110719 - 53,288,099(+) CCTAA(A/T)GACGG reference, missense
rs1110720 -- 53,288,542(+) GGTGG(A/G)AAGAC synonymous-codon, reference
rs1318648 - 53,276,761(-) TCGGG(G/T)CTCAG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for ESPL1 Gene

Variant ID Type Subtype PubMed ID
nsv517066 CNV Loss 19592680
esv2745904 CNV Deletion 23290073
esv2745905 CNV Deletion 23290073
nsv52713 CNV Insertion 16902084

Relevant External Links for ESPL1 Gene

HapMap Linkage Disequilibrium report
ESPL1
Human Gene Mutation Database (HGMD)
ESPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESPL1 Gene

Disorders for ESPL1 Gene

(3) Novoseek inferred disease relationships for ESPL1 Gene

Disease -log(P) Hits PubMed IDs
metastasis 0 1
tumors 0 8
cancer 0 2

Relevant External Links for ESPL1

Genetic Association Database (GAD)
ESPL1
Human Genome Epidemiology (HuGE) Navigator
ESPL1
genes like me logo Genes that share disorders with ESPL1: view

No data available for UniProtKB/Swiss-Prot for ESPL1 Gene

Publications for ESPL1 Gene

  1. Dual inhibition of sister chromatid separation at metaphase. (PMID: 11747808) Stemmann O. … Kirschner M.W. (Cell 2001) 3 4 23
  2. Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. (PMID: 11509732) Hauf S. … Peters J.-M. (Science 2001) 3 4 23
  3. Anaphase specific auto-cleavage of separase. (PMID: 12297314) Zou H. … Kirschner M.W. (FEBS Lett. 2002) 3 4 23
  4. Regulation of human separase by securin binding and autocleavage. (PMID: 12194817) Waizenegger I. … Peters J.-M. (Curr. Biol. 2002) 3 4 23
  5. 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. (PMID: 8724849) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4

Products for ESPL1 Gene

  • Addgene plasmids for ESPL1

Sources for ESPL1 Gene

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