Hs04530980_cn

• Gene Symbol: PCSK9
• Assay Reference Genome Location: Chr.1:55045217 on build GRCh38
• Cytoband: 1p32.3

Target Gene Details

• Entrez Gene ID: 255738
• Gene Name: proprotein convertase subtilisin/kexin type 9
• Gene Aliases: FH3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9
• Location: Chr.1:55039476-55064853 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCSK9	NM_174936.3			NP_777596.2
	NR_110451.1
	AK075365.1			BAC11572.1
	AK122717.1
	AK293870.1
	AK297473.1
	EF692496.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518638	Chr.1:55044199 - 55060623 on Build GRCh38	Loss	PCSK9
nsv527129	Chr.1:55034756 - 55058311 on Build GRCh38	Loss	PCSK9
nsv817614	Chr.1:54580862 - 55735351 on Build GRCh38	Gain	FAM151A LOC100507634 ACOT11 MIR4422 PARS2 BSND USP24 PCSK9 TTC4 DHCR24 TMEM61 TTC22 MROH7-TTC4 MROH7 LEXM

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

kidney development
liver development
negative regulation of receptor recycling
positive regulation of receptor internalization
triglyceride metabolic process
phospholipid metabolic process
apoptotic process
lysosomal transport
cholesterol metabolic process
cellular response to starvation
regulation of receptor activity
negative regulation of low-density lipoprotein particle clearance
protein autoprocessing
neurogenesis
neuron differentiation
low-density lipoprotein particle receptor catabolic process
positive regulation of low-density lipoprotein particle receptor catabolic process
cellular response to insulin stimulus
lipoprotein metabolic process
cholesterol homeostasis
regulation of neuron apoptotic process
positive regulation of neuron apoptotic process
negative regulation of receptor activity
negative regulation of sodium ion transmembrane transporter activity

Function(s)

serine-type endopeptidase activity
protein binding
sodium channel inhibitor activity
low-density lipoprotein particle binding
receptor inhibitor activity
apolipoprotein binding
very-low-density lipoprotein particle binding
apolipoprotein receptor binding
protein self-association
poly(A) RNA binding
low-density lipoprotein particle receptor binding
very-low-density lipoprotein particle receptor binding