Hs00552980_cn

• Gene Symbol: ESPL1
• Assay Reference Genome Location: Chr.12:53279818 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 9700
• Gene Name: extra spindle pole bodies like 1, separase
• Gene Aliases: ESP1, SEPA
• Location: Chr.12:53268257-53293643 on Build GRCh38
• Assay Gene Location: Overlaps Exon 13 - Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESPL1	NM_012291.4			NP_036423.4
	XM_006719705.3			XP_006719768.1
	XM_011539024.2			XP_011537326.1
	XM_011539025.2			XP_011537327.1
	XM_017020253.1			XP_016875742.1
	AK299423.1
	AK316135.1
	AY455930.1			AAR18247.1
	D79987.1			BAA11482.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv517066	Chr.12:53006394 - 53340722 on Build GRCh38	Loss	PFDN5 RARG ESPL1 SOAT2 EIF4B SP7 ZNF740 SPRYD3 MFSD5 ITGB7 CSAD IGFBP6 C12orf10 LOC283335 TNS2 MIR6757 AAAS
nsv558996	Chr.12:53211761 - 53289202 on Build GRCh38	Loss	RARG ESPL1 MFSD5

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cysteine protease

Gene Ontology Categories:

Process(es)

mitotic sister chromatid segregation
meiotic spindle organization
cytokinesis
proteolysis
apoptotic process
establishment of mitotic spindle localization
homologous chromosome segregation
positive regulation of mitotic metaphase/anaphase transition
negative regulation of sister chromatid cohesion
meiotic chromosome separation
positive regulation of mitotic sister chromatid separation

Function(s)

catalytic activity
cysteine-type endopeptidase activity
protein binding
cysteine-type peptidase activity