Entity Details

Primary name PCSK9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NBP7
EntryNamePCSK9_HUMAN
FullNameProprotein convertase subtilisin/kexin type 9
TaxID9606
Evidenceevidence at protein level
Length692
SequenceStatuscomplete
DateCreated2003-11-07
DateModified2021-06-02

Ontological Relatives

GenesPCSK9

GO terms

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GOName
GO:0001822 kidney development
GO:0001889 liver development
GO:0001920 negative regulation of receptor recycling
GO:0002092 positive regulation of receptor internalization
GO:0003723 RNA binding
GO:0004252 serine-type endopeptidase activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0006641 triglyceride metabolic process
GO:0006644 phospholipid metabolic process
GO:0006915 apoptotic process
GO:0007041 lysosomal transport
GO:0008203 cholesterol metabolic process
GO:0009267 cellular response to starvation
GO:0009986 cell surface
GO:0010469 regulation of signaling receptor activity
GO:0010989 negative regulation of low-density lipoprotein particle clearance
GO:0016540 protein autoprocessing
GO:0019871 sodium channel inhibitor activity
GO:0022008 neurogenesis
GO:0030134 COPII-coated ER to Golgi transport vesicle
GO:0030169 low-density lipoprotein particle binding
GO:0030182 neuron differentiation
GO:0030547 signaling receptor inhibitor activity
GO:0031232 extrinsic component of external side of plasma membrane
GO:0032802 low-density lipoprotein particle receptor catabolic process
GO:0032805 positive regulation of low-density lipoprotein particle receptor catabolic process
GO:0032869 cellular response to insulin stimulus
GO:0034185 apolipoprotein binding
GO:0034189 very-low-density lipoprotein particle binding
GO:0034190 apolipoprotein receptor binding
GO:0034383 low-density lipoprotein particle clearance
GO:0036020 endolysosome membrane
GO:0042157 lipoprotein metabolic process
GO:0042632 cholesterol homeostasis
GO:0043523 regulation of neuron apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0043621 protein self-association
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0048471 perinuclear region of cytoplasm
GO:0050750 low-density lipoprotein particle receptor binding
GO:0070326 very-low-density lipoprotein particle receptor binding
GO:1905596 negative regulation of low-density lipoprotein particle receptor binding
GO:1905598 negative regulation of low-density lipoprotein receptor activity
GO:1905601 negative regulation of receptor-mediated endocytosis involved in cholesterol transport
GO:1990666 PCSK9-LDLR complex
GO:1990667 PCSK9-AnxA2 complex
GO:2000650 negative regulation of sodium ion transmembrane transporter activity

Subcellular Location

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Subcellular Location
Cell surface
Cytoplasm
Endoplasmic reticulum
Endosome
Golgi apparatus
Lysosome
Secreted

Domains

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DomainNameCategoryType
IPR000209 Peptidase S8/S53 domainDomainDomain
IPR010259 Peptidase S8 propeptide/proteinase inhibitor I9DomainDomain
IPR015500 Peptidase S8, subtilisin-relatedFamilyFamily
IPR034193 Proteinase K-like catalytic domainDomainDomain
IPR036852 Peptidase S8/S53 domain superfamilyFamilyHomologous superfamily
IPR037045 Peptidase S8 propeptide/proteinase inhibitor I9 superfamilyFamilyHomologous superfamily
IPR041051 Proprotein convertase subtilisin/kexin type 9, C-terminal domain 3DomainDomain
IPR041052 Proprotein convertase subtilisin/kexin type 9, C-terminal domain 2DomainDomain
IPR041254 Proprotein convertase subtilisin/kexin type 9, C-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
603776 OMIMHypercholesterolemia, familial, 3 (FHCL3)A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB09302 AlirocumabDrugbankbiotech
DB09303 EvolocumabSwissprotbiotech
DB14901 InclisiranDrugbankbiotech