Homo sapiens Gene: PCSK9
Summary
InnateDB Gene IDBG-99082.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PCSK9
Gene Name proprotein convertase subtilisin/kexin type 9
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000169174
Encoded Proteins
proprotein convertase subtilisin/kexin type 9
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. The encoded protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein may function as a proprotein convertase. This protein plays a role in cholesterol homeostasis and may have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a third form of autosomal dominant familial hypercholesterolemia (HCHOLA3). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:55039548-55064852
Strand Forward strand
Band p32.3
Transcripts
ENST00000302118 ENSP00000303208
ENST00000490692
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0019871 sodium channel inhibitor activity
GO:0030169 low-density lipoprotein particle binding
GO:0034185 apolipoprotein binding
GO:0034189 very-low-density lipoprotein particle binding
GO:0034190 apolipoprotein receptor binding
GO:0043621 protein self-association
GO:0044822 poly(A) RNA binding
GO:0050750 low-density lipoprotein particle receptor binding
GO:0070326 very-low-density lipoprotein particle receptor binding
Biological Process
GO:0001822 kidney development
GO:0001889 liver development
GO:0001920 negative regulation of receptor recycling
GO:0002092 positive regulation of receptor internalization
GO:0006508 proteolysis
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:0010469 regulation of receptor activity
GO:0010989 negative regulation of low-density lipoprotein particle clearance
GO:0016485 protein processing
GO:0016540 protein autoprocessing
GO:0022008 neurogenesis
GO:0030182 neuron differentiation
GO:0032799 low-density lipoprotein receptor particle metabolic process
GO:0032802 low-density lipoprotein particle receptor catabolic process
GO:0032803 regulation of low-density lipoprotein particle receptor catabolic process
GO:0032869 cellular response to insulin stimulus
GO:0042157 lipoprotein metabolic process
GO:0042632 cholesterol homeostasis
GO:0043523 regulation of neuron apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005783 endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0030134 ER to Golgi transport vesicle
GO:0031232 extrinsic component of external side of plasma membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt Q8NBP7
TrEMBL
UniProt Splice Variant
Entrez Gene 255738
UniGene Hs.18844
RefSeq NM_174936
HUGO HGNC:20001
OMIM 607786
CCDS CCDS603
HPRD 07080
IMGT
EMBL AC091609 AK075365 AK124635 AL589790 AX127530 AY829011 CH471059 EF692496 FJ525880
GenPept AAV67948 ABV59216 ACN81318 BAC11572 BAC85910 CAC38896 CAI17845 EAX06660
RNA Seq Atlas 255738