ESPL1 (extra spindle pole bodies like 1, separase)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9700
Gene name Extra spindle pole bodies like 1, separase
Gene symbol ESPL1
Synonyms (NCBI Gene)
ESP1SEPA
Chromosome 12
Chromosome location 12q13.13
Summary 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 involve
miRNA miRNA information provided by mirtarbase database.
144
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (144)
miRTarBase ID miRNA Experiments Reference
MIRT016597 hsa-miR-193b-3p Microarray 20304954
MIRT026060 hsa-miR-196a-5p Sequencing 20371350
MIRT032164 hsa-let-7d-5p Sequencing 20371350
MIRT047734 hsa-miR-10a-5p CLASH 23622248
MIRT047005 hsa-miR-210-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IEA
GO:0000070 Process Mitotic sister chromatid segregation IMP 12672959
GO:0000212 Process Meiotic spindle organization IEA
GO:0000278 Process Mitotic cell cycle IEA
GO:0000280 Process Nuclear division IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604143 16856 ENSG00000135476
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14674
Protein name Separin (EC 3.4.22.49) (Caspase-like protein ESPL1) (Extra spindle poles-like 1 protein) (Separase)
Protein 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. {ECO:00
PDB 7NJ0 , 7NJ1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03568 Peptidase_C50 1720 → 2069 Family
Sequence 
MRSFKRVNFGTLLSSQKEAEELLPALKEFLSNPPAGFPSSRSDAERRQACDAILRACNQQ
LTAKLACPRHLGSLLELAELACDGYLVSTPQRPPLYLERILFVLLRNAAAQGSPEATLRL
AQPLHACLVQCSREAAPQDYEAVARGSFSLLWKGAEALLERRAAFAARLKALSFLVLLED
ESTPCEVPHFASPTACRAVAAHQLFDASGHGLNEADADFLDDLLSRHVIRALVGERGSSS
GLLSPQRALCLLELTLEHCRRFCWSRHHDKAISAVEKAHSYLRNTNLAPSLQLCQLGVKL
LQVGEEGPQAVAKLLIKASAVLSKSMEAPSPPLRALYESCQFFLSGLERGTKRRYRLDAI
LSLFAFLGGYCSLLQQLRDDGVYGGSSKQQQSFLQMYFQGLHLYTVVVYDFAQGCQIVDL
ADLTQLVDSCKSTVVWMLEALEGLSGQELTDHMGMTASYTSNLAYSFYSHKLYAEACAIS
EPLCQHLGLVKPGTYPEVPPEKLHRCFRLQVESLKKLGKQAQGCKMVILWLAALQPCSPE
HMAEPVTFWVRVKMDAARAGDKELQLKTLRDSLSGWDPETLALLLREELQAYKAVRADTG
QERFNIICDLLELSPEETPAGAWARATHLVELAQVLCYHDFTQQTNCSALDAIREALQLL
DSVRPEAQARDQLLDDKAQALLWLYICTLEAKMQEGIERDRRAQAPGNLEEFEVNDLNYE
DKLQEDRFLYSNIAFNLAADAAQSKCLDQALALWKELLTKGQAPAVRCLQQTAASLQILA
ALYQLVAKPMQALEVLLLLRIVSERLKDHSKAAGSSCHITQLLLTLGCPSYAQLHLEEAA
SSLKHLDQTTDTYLLLSLTCDLLRSQLYWTHQKVTKGVSLLLSVLRDPALQKSSKAWYLL
RVQVLQLVAAYLSLPSNNLSHSLWEQLCAQGWQTPEIALIDSHKLLRSIILLLMGSDILS
TQKAAVETSFLDYGENLVQKWQVLSEVLSCSEKLVCHLGRLGSVSEAKAFCLEALKLTTK
LQIPRQCALFLVLKGELELARNDIDLCQSDLQQVLFLLESCTEFGGVTQHLDSVKKVHLQ
KGKQQAQVPCPPQLPEEELFLRGPALELVATVAKEPGPIAPSTNSSPVLKTKPQPIPNFL
SHSPTCDCSLCASPVLTAVCLRWVLVTAGVRLAMGHQAQGLDLLQVVLKGCPEAAERLTQ
ALQASLNHKTPPSLVPSLLDEILAQAYTLLALEGLNQPSNESLQKVLQSGLKFVAARIPH
LEPWRASLLLIWALTKLGGLSCCTTQLFASSWGWQPPLIKSVPGSEPSKTQGQKRSGRGR
QKLASAPLRLNNTSQKGLEGRGLPCTPKPPDRIRQAGPHVPFTVFEEVCPTESKPEVPQA
PRVQQRVQTRLKVNFSDDSDLEDPVSAEAWLAEEPKRRGTASRGRGRARKGLSLKTDAVV
APGSAPGNPGLNGRSRRAKKVASRHCEERRPQRASDQARPGPEIMRTIPEEELTDNWRKM
SFEILRGSDGEDSASGGKTPAPGPEAASGEWELLRLDSSKKKLPSPCPDKESDKDLGPRL
RLPSAPVATGLSTLDSICDSLSVAFRGISHCPPSGLYAHLCRFLALCLGHRDPYATAFLV
TESVSITCRHQLLTHLHRQLSKAQKHRGSLEIADQLQGLSLQEMPGDVPLARIQRLFSFR
ALESGHFPQPEKESFQERLALIPSGVTVCVLALATLQPGTVGNTLLLTRLEKDSPPVSVQ
IPTGQNKLHLRSVLNEFDAIQKAQKENSSCTDKREWWTGRLALDHRMEVLIASLEKSVLG
CWKGLLLPSSEEPGPAQEASRLQELLQDCGWKYPDRTLLKIMLSGAGALTPQDIQALAYG
LCPTQPERAQELLNEAVGRLQGLTVPSNSHLVLVLDKDLQKLPWESMPSLQALPVTRLPS
FRFLLSYSIIKEYGASPVLSQGVDPRSTFYVLNPHNNLSSTEEQFRANFSSEAGWRGVVG
EVPRPEQVQEALTKHDLYIYAGHGAGARFLDGQAVLRLSCRAVALLFGCSSAALAVRGNL
EGAGIVLKYIMAGCPLFLGNLWDVTDRDIDRYTEALLQGWLGAGPGAPLLYYVNQARQAP
RLKYLIGAAPIAYGLPVSLR
Sequence length 2120
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cell cycle
Oocyte meiosis
Human T-cell leukemia virus 1 infection 		  Separation of Sister Chromatids
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs61752572 RCV005912012
Clear cell carcinoma of kidney Benign rs139523603 RCV005936867
Colon adenocarcinoma Uncertain significance rs139197630 RCV005927185
ESPL1-related disorder Uncertain significance; Likely benign; Benign rs2498523765, rs143830681, rs139523603, rs142528308, rs773785263, rs768270715, rs143177748, rs148885660, rs371739040, rs149663100, rs113736228, rs375195046, rs192407973, rs139654136, rs2364600
View all (5 more)		 RCV003416706
RCV003909245
RCV003909400
RCV003909519
RCV003964645
RCV003977115
RCV003941844
RCV003961514
RCV003961813
RCV003927168
RCV003937102
RCV003951540
RCV003956923
RCV003921941
RCV003979116
RCV003963833
RCV003905865
RCV003910475
RCV003958270
RCV003958271
Show/Hide Text Mining Associations (42)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 26349752
Adenocarcinoma of Lung Associate 32121037
Aneuploidy Stimulate 19351757
Aneuploidy Associate 22870341, 24792645, 26087013, 26267133, 29370237, 32253454
Blast Crisis Associate 19563513, 22870341
Blast Injuries Associate 26087013
Breast Neoplasms Stimulate 19351757
Breast Neoplasms Associate 24792645, 28859055, 30097312, 32546141, 32932728
Carcinogenesis Stimulate 19351757
Carcinogenesis Associate 19351757, 20334636, 24792645, 29370237, 32253454, 37006282, 38203427