ESPL1 - extra spindle pole bodies like 1, separase Gene

Homo sapiens

Also known as ESP1; SEPA

Gene ID: 9700 | Gene type: protein coding

About ESPL1

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,268,299-53,293,638 (from NCBI)

This gene has 8 transcripts (splice variants) and 187 orthologues. Biased expression in esophagus (RPKM 7.6), testis (RPKM 5.7) and 12 other tissues.

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 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]

ESPL1 Products(1)

mRNA	Protein	Name
NM_012291.5	NP_036423.4	separin

ESPL1 Protein Structure

Peptidase_C50

0
400
800
1200
1600
2000
2120 a.a.

Protein Preferred Names

Protein Names

separin

caspase-like protein ESPL1

Related Diseases

Diseases

Alias

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome	Sc Phocomelia Syndrome
RBS	Long Bone Deficiencies Associated With Cleft Lip-Palate
Sc Pseudothalidomide Syndrome	Appelt-Gerken-Lenz Syndrome
Pseudothalidomide Syndrome	Tetraphocomelia-Cleft Palate Syndrome
Hypomelia Hypotrichosis Facial Hemangioma Syndrome	Roberts Syndrome/Sc Phocomelia
Roberts Tetraphocomelia Syndrome	Sc Syndrome
Sc Phocomelia	Sc Disease
Sc	Hemoglobin Sc Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04527	ESPL1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ESPL1	VGNC	VGNC:28603
Canis familiaris	ESPL1	VGNC	VGNC:40475
Mus musculus	ESPL1	MGD	MGI:2146156
Rattus norvegicus	ESPL1	RGD	RGD:1306266
Macaca mulatta	ESPL1	VGNC	VGNC:72282
Felis catus	ESPL1	VGNC	VGNC:61963

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