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Aliases for ESPL1 Gene

Aliases for ESPL1 Gene

  • Extra Spindle Pole Bodies Like 1, Separase 2 3 5
  • Extra Spindle Poles-Like 1 Protein 3 4
  • Separin, Cysteine Protease 2 3
  • Caspase-Like Protein ESPL1 3 4
  • Separase 2 4
  • Separin 2 3
  • ESP1 3 4
  • Extra Spindle Pole Bodies Homolog 1 (S. Cerevisiae) 2
  • Extra Spindle Poles Like 1 (S. Cerevisiae) 2
  • Extra Spindle Pole Bodies 1, Separase 3
  • Extra Spindle Pole Bodies Homolog 1 3
  • Extra Spindle Poles Like 1 3
  • 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 Like 1, Separase) is a Protein Coding gene. Diseases associated with ESPL1 include Fallopian Tube Disease and Salpingitis. Among its related pathways are Cell Cycle, Mitotic and Oocyte meiosis. GO annotations related to this gene include peptidase activity and 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.

Additional gene information for ESPL1 Gene

No data available for CIViC summary , 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

Enhancers for ESPL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H053294 1.4 ENCODE dbSUPER 48.2 +29.4 29414 6 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ESPL1 AAAS ZNF740 LOC105378250 ENSG00000257500 ATP5G2 ENSG00000257605 MFSD5 SP1 ITGB7
GH12H053267 1.1 ENCODE 41 +0.4 448 2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF766 ZNF207 ESPL1 AAAS C12orf10 ITGB7 PFDN5 SOAT2 IGFBP6
GH12H053320 1.2 ENCODE 32.2 +53.1 53122 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 AAAS ESPL1 MAP3K12 HNRNPA1 C12orf10 PFDN5 SP7 SP1 RARG ENSG00000257808
GH12H053279 0.7 ENCODE 40.5 +11.4 11402 1 FOXA2 PKNOX1 CEBPB CEBPG RAD21 NR2F2 TEAD3 ATF3 CEBPA HNF4G ESPL1 PFDN5
GH12H053287 0.7 ENCODE 39.2 +19.6 19616 0 HDGF CTCF PKNOX1 MXI1 ARNT SIN3A RAD21 CC2D1A POLR2A SMC3 ESPL1 MFSD5 ITGB7 ZNF740 CSAD SOAT2 IGFBP6 PFDN5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESPL1 on UCSC Golden Path with GeneCards custom track

Promoters for ESPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052168 34 1401 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF766 ZNF207

Genomic Location for ESPL1 Gene

Chromosome:
12
Start:
53,268,266 bp from pter
End:
53,293,643 bp from pter
Size:
25,378 bases
Orientation:
Plus strand

Genomic View for ESPL1 Gene

Genes around ESPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

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 isoforms=64, isoforms=153, posLast=755755, posLast=760760, isoforms=21336, posLast=18031803, posLast=18321832, and posLast=21032103
  • Modification sites at PhosphoSitePlus

Other Protein References for ESPL1 Gene

No data available for DME Specific Peptides for ESPL1 Gene

Domains & Families for ESPL1 Gene

Gene Families for ESPL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ESPL1 Gene

Suggested Antigen Peptide Sequences for ESPL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

Phenotypes From GWAS Catalog 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 IEA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESPL1
  • Applied Biological Materials Clones for ESPL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESPL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

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 & Interactions for ESPL1 Gene

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

Pathways by source for ESPL1 Gene

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

SIGNOR curated interactions for ESPL1 Gene

Is inactivated by:

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 IEA --
GO:0000910 cytokinesis NAS 11509732
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ESPL1: view

Drugs & Compounds for ESPL1 Gene

(1) Drugs for ESPL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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

Clone Products

  • Addgene plasmids for ESPL1
  • Applied Biological Materials Clones for ESPL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x16.1), Vagina (x4.6), and Testis (x4.2).

Protein differential expression in normal tissues from HIPED for ESPL1 Gene

This gene is overexpressed in Breast (13.3), Testis (12.7), Pancreas (11.1), Retina (8.0), Heart (7.7), and Liver (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ESPL1 Gene



Protein tissue co-expression partners for ESPL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESPL1 Gene:

ESPL1

SOURCE GeneReport for Unigene cluster for ESPL1 Gene:

Hs.153479

Evidence on tissue expression from TISSUES for ESPL1 Gene

  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with ESPL1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia ESPL1 33 34
  • 87.14 (n)
dog
(Canis familiaris)
Mammalia ESPL1 33 34
  • 85.69 (n)
mouse
(Mus musculus)
Mammalia Espl1 33 16 34
  • 81.25 (n)
rat
(Rattus norvegicus)
Mammalia Espl1 33
  • 81.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ESPL1 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESPL1 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESPL1 33 34
  • 59.13 (n)
lizard
(Anolis carolinensis)
Reptilia ESPL1 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia espl1 33
  • 52.27 (n)
Str.4227 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11453 33
zebrafish
(Danio rerio)
Actinopterygii espl1 33 34
  • 48.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sse 34
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sep-1 35 34
  • 25 (a)
ZK430.5 34
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESP1 34 36
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for ESPL1 was found in the sources mined by GeneCards:
  • 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
rs1000195721 -- 53,284,568(+) CCTTT(A/T)TAATC intron-variant
rs1000497413 -- 53,280,684(+) TGTAT(A/T)TAGCT intron-variant
rs1000603702 -- 53,270,680(+) CAGAT(A/G)GTTGA nc-transcript-variant, reference, missense
rs1000846742 -- 53,272,997(+) TGTTT(C/T)CCAAA intron-variant
rs1001222869 -- 53,274,009(+) GCCAC(C/G)ATGCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2745904 CNV deletion 23290073
esv2745905 CNV deletion 23290073
esv3310490 CNV novel sequence insertion 20981092
esv9002 CNV gain 19470904
nsv517066 CNV loss 19592680
nsv52713 CNV insertion 16902084
nsv558994 CNV loss 21841781
nsv558996 CNV loss 21841781

Variation tolerance for ESPL1 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.43; 81.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESPL1 Gene

Human Gene Mutation Database (HGMD)
ESPL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESPL1

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

Disorders for ESPL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ESPL1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fallopian tube disease
  • fallopian tube diseases
salpingitis
richter's syndrome
  • richter syndrome
kbg syndrome
  • short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
- elite association - COSMIC cancer census association via MalaCards
Search ESPL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESPL1

Genetic Association Database (GAD)
ESPL1
Human Genome Epidemiology (HuGE) Navigator
ESPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESPL1
genes like me logo Genes that share disorders with ESPL1: view

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

Publications for ESPL1 Gene

  1. Anaphase specific auto-cleavage of separase. (PMID: 12297314) Zou H … Kirschner MW (FEBS letters 2002) 3 4 22 60
  2. Regulation of human separase by securin binding and autocleavage. (PMID: 12194817) Waizenegger I … Peters JM (Current biology : CB 2002) 3 4 22 60
  3. Dual inhibition of sister chromatid separation at metaphase. (PMID: 11747808) Stemmann O … Kirschner MW (Cell 2001) 3 4 22 60
  4. Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. (PMID: 11509732) Hauf S … Peters JM (Science (New York, N.Y.) 2001) 3 4 22 60
  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 research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 60

Products for ESPL1 Gene

  • Addgene plasmids for ESPL1

Sources for ESPL1 Gene

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