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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 Mitotic Metaphase and Anaphase and Cell Cycle, Mitotic. 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.

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

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
GH12F053294 1.2 ENCODE 48.2 +29.4 29414 6.5 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ESPL1 AAAS IGFBP6 SP1 ENSG00000258344 ENSG00000257500 LOC105378250 MAP3K12 PFDN5 ATP5G2
GH12F053267 1.1 ENCODE 41 +0.4 448 2.7 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ESPL1 IGFBP6 AAAS C12orf10 MAP3K12 ZNF740 PFDN5 SOAT2
GH12F053320 1.2 ENCODE 32.1 +53.1 53122 2.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 AAAS ESPL1 PFDN5 MIR3198-2 IGFBP6 MAP3K12 SP1 ENSG00000258344 C12orf10 ENSG00000260470
GH12F053279 0.7 ENCODE 40.5 +11.4 11402 1.1 PKNOX1 CEBPB CEBPG NR2F2 TEAD3 CEBPA HNF4G NR2F6 ZNF600 HNF4A ESPL1 PFDN5
GH12F053287 0.7 ENCODE 39.2 +19.6 19616 0.2 CTCF PKNOX1 ZNF654 WRNIP1 SIN3A TRIM22 REST RAD21 POLR2A MBD1 ESPL1 MFSD5 ITGB7 CSAD ZNF740 IGFBP6 SOAT2 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
ENSR00000430818 34 1401 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143

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 Lys 64, Lys 153, Lys 755, Lys 760, Lys 1336, Lys 1803, Lys 1832, and Lys 2103
  • 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

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

Q14674

UniProtKB/Swiss-Prot:

ESPL1_HUMAN :
  • Contains 1 peptidase C50 domain.
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 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESPL1

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for ESPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA,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:0000910 cytokinesis NAS 11509732
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process TAS 11875078
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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 from GTEx, Illumina, BioGPS, and 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
genes like me logo Genes that share expression patterns with ESPL1: view

Primer 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 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia ESPL1 34 35
  • 87.14 (n)
dog
(Canis familiaris)
Mammalia ESPL1 34 35
  • 85.69 (n)
mouse
(Mus musculus)
Mammalia Espl1 34 16 35
  • 81.25 (n)
rat
(Rattus norvegicus)
Mammalia Espl1 34
  • 81.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ESPL1 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESPL1 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESPL1 34 35
  • 59.13 (n)
lizard
(Anolis carolinensis)
Reptilia ESPL1 35
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia espl1 34
  • 52.27 (n)
Str.4227 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11453 34
zebrafish
(Danio rerio)
Actinopterygii espl1 34 35
  • 48.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sse 35
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sep-1 36 35
  • 25 (a)
ZK430.5 35
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESP1 35 37
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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
rs1056685 -- 53,292,919(+) TGTGC(A/G)TGGAA downstream-variant-500B, reference, missense
rs1056692 -- 53,293,603(+) TTTTG(A/G)TTTAA upstream-variant-2KB, utr-variant-3-prime
rs10657112 -- 53,271,173(+) AAGTG(G/T)TTTTT intron-variant
rs10747662 -- 53,276,037(+) CCTTG(A/T)CTCTA intron-variant
rs10783564 -- 53,291,163(+) TGGGC(A/G)TGGTG intron-variant

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

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

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

(3) MalaCards diseases for ESPL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fallopian tube disease
  • fallopian tube diseases
salpingitis
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. Regulation of human separase by securin binding and autocleavage. (PMID: 12194817) Waizenegger I. … Peters J.-M. (Curr. Biol. 2002) 3 4 22 64
  2. Anaphase specific auto-cleavage of separase. (PMID: 12297314) Zou H. … Kirschner M.W. (FEBS Lett. 2002) 3 4 22 64
  3. Dual inhibition of sister chromatid separation at metaphase. (PMID: 11747808) Stemmann O. … Kirschner M.W. (Cell 2001) 3 4 22 64
  4. Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. (PMID: 11509732) Hauf S. … Peters J.-M. (Science 2001) 3 4 22 64
  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 64

Products for ESPL1 Gene

Sources for ESPL1 Gene

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