InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-99084

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

ENSMUSG00000044254

View Gene Order

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.18844

RefSeq

NM_174936

HUGO

OMIM

CCDS

CCDS603

HPRD

07080

IMGT

EMBL

GenPept

RNA Seq Atlas