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PCSK9

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GENERAL INFORMATION

Gene name

 PCSK9

Gene description

 Proprotein convertase subtilisin/kexin type 9

Protein class

 Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Cell line enhanced (HaCaT, A-431, HeLa, RPTEC TERT1)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (HaCaT, A-431, HeLa, RPTEC TERT1)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 PCSK9 (HGNC Symbol)

Synonyms

 FH3, HCHOLA3, NARC-1

Description

 Proprotein convertase subtilisin/kexin type 9 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Chromosome

 1

Cytoband

 p32.3

Chromosome location (bp)

 55039548 - 55064852

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000169174 (version 83.38)

Entrez gene

 255738

UniProt

 Q8NBP7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8NBP7

Antibodypedia

 PCSK9 antibodies

PROTEIN BROWSER
PCSK9-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PCSK9-001
ENSP00000303208
ENST00000302118
Q8NBP7 [Direct mapping]
Proprotein convertase subtilisin/kexin type 9
Show all
Enzymes
   Peptidases
   Serine-type peptidases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Biotech drugs
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001822 [kidney development]
GO:0001889 [liver development]
GO:0001920 [negative regulation of receptor recycling]
GO:0002092 [positive regulation of receptor internalization]
GO:0004252 [serine-type endopeptidase activity]
GO:0005515 [protein binding]
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: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:0009986 [cell surface]
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:0019871 [sodium channel inhibitor activity]
GO:0022008 [neurogenesis]
GO:0030134 [ER to Golgi transport vesicle]
GO:0030169 [low-density lipoprotein particle binding]
GO:0030182 [neuron differentiation]
GO:0030547 [receptor inhibitor activity]
GO:0031232 [extrinsic component of external side of plasma membrane]
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: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: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:0044822 [poly(A) RNA binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050750 [low-density lipoprotein particle receptor binding]
GO:0070326 [very-low-density lipoprotein particle receptor binding]
GO:1990666 [PCSK9-LDLR complex]
GO:1990667 [PCSK9-AnxA2 complex]
GO:2000272 [negative regulation of receptor activity]
GO:2000650 [negative regulation of sodium ion transmembrane transporter activity]
Show all
 692 aa
74.3 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.