• Gene id: 9700

Gene Summary

• Gene Symbol: ESPL1   Gene   UCSC   Ensembl
• Aliases: ESP1, SEPA
• Gene name: extra spindle pole bodies like 1, separase
• Alternate names: separin, caspase-like protein ESPL1, extra spindle pole bodies 1, separase, extra spindle pole bodies homolog 1, extra spindle poles like 1, extra spindle poles-like 1 protein, separin, cysteine protease,
• Gene location: 12q13.13 (53268256: 53293642)     Exons: 32     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 604143

Protein Summary

• Protein general information: Q14674  
  • Name: Separin (EC 3.4.22.49) (Caspase like protein ESPL1) (Extra spindle poles like 1 protein) (Separase)
  • Length: 2120  
  • Mass: 233175
• Sequence:

  MRSFKRVNFGTLLSSQKEAEELLPALKEFLSNPPAGFPSSRSDAERRQACDAILRACNQQLTAKLACPRHLGSLL
  ELAELACDGYLVSTPQRPPLYLERILFVLLRNAAAQGSPEATLRLAQPLHACLVQCSREAAPQDYEAVARGSFSL
  LWKGAEALLERRAAFAARLKALSFLVLLEDESTPCEVPHFASPTACRAVAAHQLFDASGHGLNEADADFLDDLLS
  RHVIRALVGERGSSSGLLSPQRALCLLELTLEHCRRFCWSRHHDKAISAVEKAHSYLRNTNLAPSLQLCQLGVKL
  LQVGEEGPQAVAKLLIKASAVLSKSMEAPSPPLRALYESCQFFLSGLERGTKRRYRLDAILSLFAFLGGYCSLLQ
  QLRDDGVYGGSSKQQQSFLQMYFQGLHLYTVVVYDFAQGCQIVDLADLTQLVDSCKSTVVWMLEALEGLSGQELT
  DHMGMTASYTSNLAYSFYSHKLYAEACAISEPLCQHLGLVKPGTYPEVPPEKLHRCFRLQVESLKKLGKQAQGCK
  MVILWLAALQPCSPEHMAEPVTFWVRVKMDAARAGDKELQLKTLRDSLSGWDPETLALLLREELQAYKAVRADTG
  QERFNIICDLLELSPEETPAGAWARATHLVELAQVLCYHDFTQQTNCSALDAIREALQLLDSVRPEAQARDQLLD
  DKAQALLWLYICTLEAKMQEGIERDRRAQAPGNLEEFEVNDLNYEDKLQEDRFLYSNIAFNLAADAAQSKCLDQA
  LALWKELLTKGQAPAVRCLQQTAASLQILAALYQLVAKPMQALEVLLLLRIVSERLKDHSKAAGSSCHITQLLLT
  LGCPSYAQLHLEEAASSLKHLDQTTDTYLLLSLTCDLLRSQLYWTHQKVTKGVSLLLSVLRDPALQKSSKAWYLL
  RVQVLQLVAAYLSLPSNNLSHSLWEQLCAQGWQTPEIALIDSHKLLRSIILLLMGSDILSTQKAAVETSFLDYGE
  NLVQKWQVLSEVLSCSEKLVCHLGRLGSVSEAKAFCLEALKLTTKLQIPRQCALFLVLKGELELARNDIDLCQSD
  LQQVLFLLESCTEFGGVTQHLDSVKKVHLQKGKQQAQVPCPPQLPEEELFLRGPALELVATVAKEPGPIAPSTNS
  SPVLKTKPQPIPNFLSHSPTCDCSLCASPVLTAVCLRWVLVTAGVRLAMGHQAQGLDLLQVVLKGCPEAAERLTQ
  ALQASLNHKTPPSLVPSLLDEILAQAYTLLALEGLNQPSNESLQKVLQSGLKFVAARIPHLEPWRASLLLIWALT
  KLGGLSCCTTQLFASSWGWQPPLIKSVPGSEPSKTQGQKRSGRGRQKLASAPLRLNNTSQKGLEGRGLPCTPKPP
  DRIRQAGPHVPFTVFEEVCPTESKPEVPQAPRVQQRVQTRLKVNFSDDSDLEDPVSAEAWLAEEPKRRGTASRGR
  GRARKGLSLKTDAVVAPGSAPGNPGLNGRSRRAKKVASRHCEERRPQRASDQARPGPEIMRTIPEEELTDNWRKM
  SFEILRGSDGEDSASGGKTPAPGPEAASGEWELLRLDSSKKKLPSPCPDKESDKDLGPRLRLPSAPVATGLSTLD
  SICDSLSVAFRGISHCPPSGLYAHLCRFLALCLGHRDPYATAFLVTESVSITCRHQLLTHLHRQLSKAQKHRGSL
  EIADQLQGLSLQEMPGDVPLARIQRLFSFRALESGHFPQPEKESFQERLALIPSGVTVCVLALATLQPGTVGNTL
  LLTRLEKDSPPVSVQIPTGQNKLHLRSVLNEFDAIQKAQKENSSCTDKREWWTGRLALDHRMEVLIASLEKSVLG
  CWKGLLLPSSEEPGPAQEASRLQELLQDCGWKYPDRTLLKIMLSGAGALTPQDIQALAYGLCPTQPERAQELLNE
  AVGRLQGLTVPSNSHLVLVLDKDLQKLPWESMPSLQALPVTRLPSFRFLLSYSIIKEYGASPVLSQGVDPRSTFY
  VLNPHNNLSSTEEQFRANFSSEAGWRGVVGEVPRPEQVQEALTKHDLYIYAGHGAGARFLDGQAVLRLSCRAVAL
  LFGCSSAALAVRGNLEGAGIVLKYIMAGCPLFLGNLWDVTDRDIDRYTEALLQGWLGAGPGAPLLYYVNQARQAP
  RLKYLIGAAPIAYGLPVSLR

• Structural information:
  • Protein Domains: (1945..204-)
    (/note="Peptidase-C50")
  • Interpro: IPR005314  IPR030397  
  • Prosite: PS51700
  • DIP: 46079
  • STRING: ENSP00000257934
• Other Databases: GeneCards:  ESPL1  Malacards:  ESPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0072686	mitotic spindle	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0051307	meiotic chromosome separation	IBA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0007059	chromosome segregation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0045143	homologous chromosome segregation	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0007127	meiosis I	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0000212	meiotic spindle organization	IEA	biological process
GO:0000070	mitotic sister chromatid segregation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0045875	negative regulation of sister chromatid cohesion	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003824	catalytic activity	NAS	molecular function
GO:0045842	positive regulation of mitotic metaphase/anaphase transition	NAS	biological process
GO:0040001	establishment of mitotic spindle localization	NAS	biological process
GO:0008234	cysteine-type peptidase activity	NAS	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000281	mitotic cytokinesis	NAS	biological process
GO:0000070	mitotic sister chromatid segregation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa04110	Cell cycle
hsa04114	Oocyte meiosis

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray