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ESPL1 extra spindle pole bodies like 1, separase [ Homo sapiens (human) ]

Gene ID: 9700, updated on 7-Jun-2020

Summary

Official Symbol
ESPL1provided by HGNC
Official Full Name
extra spindle pole bodies like 1, separaseprovided by HGNC
Primary source
HGNC:HGNC:16856
See related
Ensembl:ENSG00000135476 MIM:604143
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ESP1; SEPA
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]
Expression
Biased expression in esophagus (RPKM 7.6), testis (RPKM 5.7) and 12 other tissues See more
Orthologs

Genomic context

See ESPL1 in Genome Data Viewer
Location:
12q13.13
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (53268257..53293643)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53662083..53687427)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene retinoic acid receptor gamma Neighboring gene major facilitator superfamily domain containing 5 Neighboring gene Sharpr-MPRA regulatory region 12 Neighboring gene MYG1 antisense RNA 1 Neighboring gene prefoldin subunit 5 Neighboring gene MYG1 exonuclease

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46492, KIAA0165

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity NAS
Non-traceable Author Statement
more info
PubMed 
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type peptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
cysteine-type peptidase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
establishment of mitotic spindle localization NAS
Non-traceable Author Statement
more info
PubMed 
homologous chromosome segregation IEA
Inferred from Electronic Annotation
more info
 
meiotic chromosome separation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic spindle organization IEA
Inferred from Electronic Annotation
more info
 
mitotic cytokinesis NAS
Non-traceable Author Statement
more info
PubMed 
mitotic sister chromatid segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of sister chromatid cohesion NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of mitotic metaphase/anaphase transition NAS
Non-traceable Author Statement
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
separin
Names
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
NP_036423.4
XP_006719768.1
XP_011537326.1
XP_011537327.1
XP_016875742.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012291.5NP_036423.4  separin

    See identical proteins and their annotated locations for NP_036423.4

    Status: VALIDATED

    Source sequence(s)
    AC021072, AC073611
    Consensus CDS
    CCDS8852.1
    UniProtKB/Swiss-Prot
    Q14674
    Related
    ENSP00000257934.4, ENST00000257934.9
    Conserved Domains (1) summary
    pfam03568
    Location:17212069
    Peptidase_C50; Peptidase family C50

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    53268257..53293643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539025.2XP_011537327.1  separin isoform X2

    Conserved Domains (1) summary
    cl19248
    Location:17211932
    CHAT; CHAT domain
  2. XM_006719705.3XP_006719768.1  separin isoform X1

    See identical proteins and their annotated locations for XP_006719768.1

    UniProtKB/Swiss-Prot
    Q14674
    Conserved Domains (1) summary
    pfam03568
    Location:17212069
    Peptidase_C50; Peptidase family C50
  3. XM_017020253.1XP_016875742.1  separin isoform X3

    UniProtKB/Swiss-Prot
    Q14674
  4. XM_011539024.2XP_011537326.1  separin isoform X1

    See identical proteins and their annotated locations for XP_011537326.1

    UniProtKB/Swiss-Prot
    Q14674
    Conserved Domains (1) summary
    pfam03568
    Location:17212069
    Peptidase_C50; Peptidase family C50

RNA

  1. XR_001748927.1 RNA Sequence

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