ESPL1 - extra spindle pole bodies like 1, separase Gene

Also Known as ESP1; SEPA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9700

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

Peptidase_C50: Peptidase family C50 (1718 - 2069)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2120 a.a.
Protein Preferred Names Protein Names

separin

  • caspase-like protein ESPL1

ESPL1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811095 Separase Antibody WB, IHC-P, ICC/IF Human, Mouse

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

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
Others ESPL1 NCBI